Kell > KEL
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nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
c.71G>A | p.Trp24Ter | Exon 2 | chr7:142658892 | chr7:142961805 | rs753369164 | ||||
c.160_161delATinsCTCC | p.Ile54Leufs*136 | Exon 3 | chr7:142658509 | chr7:142961422 | |||||
c.184delT | p.Ser62Leufs*127 | Exon 3 | chr7:142658486 | chr7:142961399 | |||||
c.184_185insT | p.Ser62Phefs*17 | Exon 3 | chr7:142658485 | chr7:142961398 | rs751207765 | ||||
c.201C>A | p.Tyr67Ter | Exon 3 | chr7:142658469 | chr7:142961382 | |||||
c.223+1G>C | p.Ser28Alafs*113 | Intron 3 | chr7:142658446 | chr7:142961359 | rs369569464 | ||||
c.223+1G>T | p.Ser28Alafs*113 | Intron 3 | chr7:142658446 | chr7:142961359 | rs369569464 | ||||
c.223+1G>A | p.Ser28Alafs*113 | Intron 3 | chr7:142658446 | chr7:142961359 | rs369569464 | ||||
c.230G>T | p.Cys77Phe | Exon 4 | chr7:142658185 | chr7:142961098 | |||||
c.244T>C | p.Cys82Arg | Exon 4 | chr7:142658171 | chr7:142961084 | rs369127636 | ||||
c.246T>A | p.Cys82Ter | Exon 4 | chr7:142658169 | chr7:142961082 | rs61729058 | ||||
c.257G>A | p.Arg86Gln | Exon 4 | chr7:142658158 | chr7:142961071 | rs777011308 | ||||
c.267C>G | p.Tyr89Ter | Exon 4 | chr7:142658148 | chr7:142961061 | rs879327552 | ||||
c.299G>C | p.Cys100Ser | Exon 4 | chr7:142658116 | chr7:142961029 | rs200268316 | ||||
c.306C>A | p.Asp102Glu | Exon 4 | chr7:142658109 | chr7:142961022 | rs758637202 | ||||
c.328delA | p.Arg110Glyfs*79 | Exon 4 | chr7:142658087 | chr7:142961000 | |||||
c.371delA | p.Lys124Argfs*65 | Exon 4 | chr7:142658044 | chr7:142960957 | |||||
c.382C>T | p.Arg128Ter | Exon 4 | chr7:142658033 | chr7:142960946 | rs61729053 | ||||
c.388C>T | p.Arg130Trp | Exon 4 | chr7:142658027 | chr7:142960940 | rs184131044 | ||||
c.389G>A | p.Arg130Gln | Exon 4 | chr7:142658026 | chr7:142960939 | rs201110152 | ||||
c.398T>C | p.Leu133Pro | Exon 4 | chr7:142658017 | chr7:142960930 | |||||
c.436delG | p.Glu146Argfs*43 | Exon 5 | chr7:142655480 | chr7:142958393 | rs762799244 | ||||
c.455A>G | p.Tyr152Cys | Exon 5 | chr7:142655461 | chr7:142958374 | rs1228818924 | ||||
c.481A>T | p.Ile161Phe | Exon 5 | chr7:142655435 | chr7:142958348 | |||||
c.526-2A>G | p.Leu176Alafs*9 | Intron 5 | chr7:142655062 | chr7:142957975 | |||||
c.538C>T | p.Arg180Cys | Exon 6 | chr7:142655048 | chr7:142957961 | rs747437444 | ||||
c.539G>A | p.Arg180His | Exon 6 | chr7:142655047 | chr7:142957960 | rs61729039 | ||||
c.539G>C | p.Arg180Pro | Exon 6 | chr7:142655047 | chr7:142957960 | rs61729039 | ||||
c.574C>T | p.Arg192Ter | Exon 6 | chr7:142655012 | chr7:142957925 | rs200430183 | ||||
c.575G>A | p.Arg192Gln | Exon 6 | chr7:142655011 | chr7:142957924 | rs754663945 | ||||
c.575G>C | p.Arg192Pro | Exon 6 | chr7:142655011 | chr7:142957924 | rs754663945 | ||||
c.577A>T | p.Thr193Ser | Exon 6 | chr7:142655009 | chr7:142957922 | rs61729031 | ||||
c.578C>T | p.Thr193Met | Exon 6 | chr7:142655008 | chr7:142957921 | rs8176058 | ||||
c.578C>G | p.Thr193Arg | Exon 6 | chr7:142655008 | chr7:142957921 | rs8176058 | ||||
c.586C>G | p.Leu196Val | Exon 6 | chr7:142655000 | chr7:142957913 | rs760539605 | ||||
c.712C>T | p.Gln238Ter | Exon 7 | chr7:142651575 | chr7:142954488 | rs753948889 | ||||
c.715G>T | p.Glu239Ter | Exon 7 | chr7:142651572 | chr7:142954485 | rs766427535 | ||||
c.730delG | p.Ala244Profs*8 | Exon 7 | chr7:142651557 | chr7:142954470 | |||||
c.736-1G>C | Intron 7 | chr7:142651460 | chr7:142954373 | rs765075509 | |||||
c.742C>T | p.Arg248Trp | Exon 8 | chr7:142651453 | chr7:142954366 | rs61728832 | ||||
c.743G>A | p.Arg248Gln | Exon 8 | chr7:142651452 | chr7:142954365 | rs61729040 | ||||
c.745G>A | p.Glu249Lys | Exon 8 | chr7:142651450 | chr7:142954363 | rs61729042 | ||||
c.758A>G | p.Tyr253Cys | Exon 8 | chr7:142651437 | chr7:142954350 | |||||
c.780G>T | p.Leu260Phe | Exon 8 | chr7:142651415 | chr7:142954328 | rs1235779167 | ||||
c.787G>A | p.Gly263Arg | Exon 8 | chr7:142651408 | chr7:142954321 | |||||
c.788G>A | p.Gly263Glu | Exon 8 | chr7:142651407 | chr7:142954320 | rs775889759 | ||||
c.841C>T | p.Arg281Trp | Exon 8 | chr7:142651354 | chr7:142954267 | rs8176059 | ||||
c.842G>A | p.Arg281Gln | Exon 8 | chr7:142651353 | chr7:142954266 | rs61729036 | ||||
c.875G>A | p.Arg292Gln | Exon 8 | chr7:142651320 | chr7:142954233 | rs201698610 | ||||
c.877C>T | p.Arg293Trp | Exon 8 | chr7:142651318 | chr7:142954231 | rs557358978 | ||||
c.903delG | p.Val302Serfs*28 | Exon 8 | chr7:142651292 | chr7:142954205 | rs61729059 | ||||
c.905T>C | p.Val302Ala | Exon 8 | chr7:142651290 | chr7:142954203 | rs61729034 | ||||
c.913G>A | p.Asp305Asn | Exon 8 | chr7:142651282 | chr7:142954195 | rs61729044 | ||||
c.924+1G>T | Intron 8 | chr7:142651270 | chr7:142954183 | rs568600999 | |||||
c.924+1G>A | Intron 8 | chr7:142651270 | chr7:142954183 | rs568600999 | |||||
c.937G>A | p.Ala313Thr | Exon 9 | chr7:142651031 | chr7:142953944 | rs191311545 | ||||
c.948G>A | p.Trp316Ter | Exon 9 | chr7:142651020 | chr7:142953933 | rs61729049 | ||||
c.965C>T | p.Ala322Val | Exon 9 | chr7:142651003 | chr7:142953916 | rs61729037 | ||||
c.977C>T | p.Pro326Leu | Exon 9 | chr7:142650991 | chr7:142953904 | rs751284993 | ||||
c.986T>C | p.Leu329Pro | Exon 9 | chr7:142650982 | chr7:142953895 | rs61729057 | ||||
c.997C>T | p.Gln333Ter | Exon 9 | chr7:142650971 | chr7:142953884 | |||||
c.1042C>T | p.Gln348Ter | Exon 9 | chr7:142650926 | chr7:142953839 | rs61729054 | ||||
c.1073G>C | p.Arg358Thr | Exon 9 | chr7:142650895 | chr7:142953808 | |||||
c.1084C>A | p.Gln362Lys | Exon 10 | chr7:142649715 | chr7:142952628 | rs766310210 | ||||
c.1088G>A | p.Ser363Asn | Exon 10 | chr7:142649711 | chr7:142952624 | rs61729055 | ||||
c.1145A>G | p.Gln382Arg | Exon 10 | chr7:142649654 | chr7:142952567 | rs61729038 | ||||
c.1216C>T | p.Arg406Ter | Exon 11 | chr7:142643392 | chr7:142946305 | rs61729045 | ||||
c.1217G>A | p.Arg406Gln | Exon 11 | chr7:142643391 | chr7:142946304 | rs61729041 | ||||
c.1253T>C | p.Phe418Ser | Exon 11 | chr7:142643355 | chr7:142946268 | rs149225200 | ||||
c.1268C>T | p.Ala423Val | Exon 11 | chr7:142643340 | chr7:142946253 | rs61728831 | ||||
c.1271C>T | p.Ala424Val | Exon 11 | chr7:142643337 | chr7:142946250 | rs779011501 | ||||
c.1283G>T | p.Arg428Leu | Exon 11 | chr7:142643325 | chr7:142946238 | rs750806448 | ||||
c.1298C>T | p.Pro433Leu | Exon 11 | chr7:142643310 | chr7:142946223 | rs143238294 | ||||
c.1314+5G>A | Intron 11 | chr7:142643289 | chr7:142946202 | ||||||
c.1896-1897delCT | p.Leu633Argfs*50 | Exon 17 | chr7:142641904 | chr7:142944817 | |||||
c.1339C>T | p.Arg447Trp | Exon 12 | chr7:142641804 | chr7:142944717 | rs142604829 | ||||
c.1377G>A | p.Trp459Ter | Exon 12 | chr7:142641766 | chr7:142944679 | rs61729052 | ||||
c.1382_1385del4 | p.Asn461Argfs*25 | Exon 12 | chr7:142641758 | chr7:142944671 | |||||
c.1391C>T | p.Thr464Ile | Exon 12 | chr7:142641752 | chr7:142944665 | rs190890637 | ||||
c.1414-1G>C | Intron 12 | chr7:142641488 | chr7:142944401 | rs906814829 | |||||
c.1420C>T | p.Gln474Ter | Exon 13 | chr7:142641481 | chr7:142944394 | rs61729056 | ||||
c.1474C>T | p.Arg492TER | Exon 13 | chr7:142641427 | chr7:142944340 | rs932456335 | ||||
c.1475G>A | p.Arg492Gln | Exon 13 | chr7:142641426 | chr7:142944339 | rs61729035 | ||||
c.1477C>T | p.Gln493Ter | Exon 13 | chr7:142641424 | chr7:142944337 | rs61729050 | ||||
c.1481A>T | p.Glu494Val | Exon 13 | chr7:142641420 | chr7:142944333 | rs61729032 | ||||
c.1490A>T | p.Asp497Val | Exon 13 | chr7:142641411 | chr7:142944324 | rs1286534156 | ||||
c.1546C>A | p.Arg516Arg | Exon 14 | chr7:142640916 | chr7:142943829 | rs8176034 | ||||
c.1546C>T | p.Arg516Ter | Exon 14 | chr7:142640916 | chr7:142943829 | rs8176034 | ||||
c.1596G>A | p.Trp532Ter | Exon 15 | chr7:142640680 | chr7:142943593 | |||||
c.1643A>G | p.His548Arg | Exon 15 | chr7:142640633 | chr7:142943546 | rs61729033 | ||||
c.1664G>A | p.Gly555Glu | Exon 15 | chr7:142640612 | chr7:142943525 | |||||
c.1664G>T | p.Gly555Val | Exon 15 | chr7:142640612 | chr7:142943525 | |||||
c.1678C>G | p.Pro560Ala | Exon 15 | chr7:142640598 | chr7:142943511 | rs61729046 | ||||
c.1680A>C | p.Pro560Pro | Exon 15 | chr7:142640596 | chr7:142943509 | rs8176036 | ||||
c.1708G>A | p.Val570Met | Exon 16 | chr7:142640426 | chr7:142943339 | rs766803262 | ||||
c.1719C>T | p.Gly573Gly | Exon 16 | chr7:142640415 | chr7:142943328 | rs145850557 | ||||
c.1726G>C | p.Gly576Arg | Exon 16 | chr7:142640408 | chr7:142943321 | rs201778033 | ||||
c.1757T>G | p.Ile586Ser | Exon 16 | chr7:142640377 | chr7:142943290 | |||||
c.1763A>G | p.Tyr588Cys | Exon 16 | chr7:142640371 | chr7:142943284 | rs61729048 | ||||
c.1771+1G>A | Intron 16 | chr7:142640362 | chr7:142943275 | rs869025768 | |||||
c.1790T>C | p.Leu597Pro | Exon 17 | chr7:142640113 | chr7:142943026 | rs8176038 | ||||
c.1813_1814insC | p.Gln605Profs*18 | Exon 17 | chr7:142640089 | chr7:142943002 | |||||
c.1832T>G | p.Leu611Arg | Exon 17 | chr7:142640071 | chr7:142942984 | |||||
c.1868G>A | p.Arg623Lys | Exon 17 | chr7:142640035 | chr7:142942948 | rs61729043 | ||||
c.1899A>G | p.Leu633Leu | Exon 17 | chr7:142640004 | chr7:142942917 | rs8176039 | ||||
c.1920G>C | p.Gly640Gly | Exon 17 | chr7:142639983 | chr7:142942896 | rs542976466 | ||||
c.1921G>A | p.Gly641Arg | Exon 17 | chr7:142639982 | chr7:142942895 | |||||
c.1934C>T | p.Ala645Val | Exon 17 | chr7:142639969 | chr7:142942882 | rs147851584 | ||||
c.1947C>G | p.Tyr649Ter | Exon 18 | chr7:142639611 | chr7:142942524 | rs902425813 | ||||
c.1975delG | p.Glu659Argfs*22 | Exon 18 | chr7:142639583 | chr7:142942496 | rs1042359399 | ||||
c.2023C>T | p.Arg675Ter | Exon 18 | chr7:142639535 | chr7:142942448 | rs61729047 | ||||
c.2024G>A | p.Arg675Gln | Exon 18 | chr7:142639534 | chr7:142942447 | rs760716472 | ||||
c.2027G>A | p.Ser676Asn | Exon 18 | chr7:142639531 | chr7:142942444 | rs61729051 | ||||
c.2030A>G | p.Tyr677Cys | Exon 18 | chr7:142639528 | chr7:142942441 | rs147464117 | ||||
c.2098C>T | p.Arg700Ter | Exon 19 | chr7:142638440 | chr7:142941353 | rs565926203 | ||||
c.2099G>A | p.Arg700Gln | Exon 19 | chr7:142638439 | chr7:142941352 | rs1268359042 | ||||
c.2107G>C | p.Gly703Arg | Exon 19 | chr7:142638431 | chr7:142941344 | rs191330570 | ||||
c.2107G>A | p.Gly703Arg | Exon 19 | chr7:142638431 | chr7:142941344 | rs191330570 | ||||
c.2111C>A | p.Pro704His | Exon 19 | chr7:142638427 | chr7:142941340 | rs747806266 | ||||
c.2120delG | p.Ser707Thrfs*17 | Exon 19 | chr7:142638418 | chr7:142941331 | |||||
c.2175delC | p.Ser726Profs*43 | Exon 19 | chr7:142638363 | chr7:142941276 | rs369569464 |
Kell metallo-endopeptidase | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome: | chr7 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Strand: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic ref.: | NG_007492.3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Transcript ref.: | NM_000420.3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein ref.: | NP_000411.1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Entrez GeneID: | 3792 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Uniprot ID: | P23276 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Further links: | GTEx Portal, gnomAD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
hg19: |
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hg38: |
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