Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39665697_39665699del | CA2637632483 | TCAP | c.111-19_111-17del (n.111-19_111-17del) | gnomAD v4 |
17 | g.39665701dup | CA134913 | TCAP | c.111-15dup (n.111-15dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665701del | CA626209133 | TCAP | c.111-15del (n.111-15del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665699C= | CA2259200561 | TCAP | c.111-17C= (n.111-17C=) | |
17 | g.39665699C>G | CA2637632489 | TCAP | c.111-17C>G (n.111-17C>G) | gnomAD v4 |
17 | g.39665699C>T | CA8532854 | TCAP | c.111-17C>T (n.111-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665700C>A | CA2842171092 | TCAP | c.111-16C>A (n.111-16C>A) | |
17 | g.39665700C= | CA2259200563 | TCAP | c.111-16C= (n.111-16C=) | |
17 | g.39665700C>G | CA8532855 | TCAP | c.111-16C>G (n.111-16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665700C>T | CA8532856 | TCAP | c.111-16C>T (n.111-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665701C= | CA2259200565 | TCAP | c.111-15C= (n.111-15C=) | |
17 | g.39665701C>G | CA626209135 | TCAP | c.111-15C>G (n.111-15C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665701C>T | CA2580093659 | TCAP | c.111-15C>T (n.111-15C>T) | ClinVar gnomAD v4 |
17 | g.39665702T>A | CA290433933 | TCAP | c.111-14T>A (n.111-14T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665702T>C | CA2637632490 | TCAP | c.111-14T>C (n.111-14T>C) | gnomAD v4 |
17 | g.39665702T= | CA2259200567 | TCAP | c.111-14T= (n.111-14T=) | |
17 | g.39665703C>A | CA10645594 | TCAP | c.111-13C>A (n.111-13C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.39665703C= | CA2259200569 | TCAP | c.111-13C= (n.111-13C=) | |
17 | g.39665703C>T | CA8532857 | TCAP | c.111-13C>T (n.111-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665704_39665706del | CA2637632491 | TCAP | c.111-12_111-10del (n.111-12_111-10del) | gnomAD v4 |
17 | g.39665704C>A | CA2637632492 | TCAP | c.111-12C>A (n.111-12C>A) | gnomAD v4 |
17 | g.39665704C= | CA2259200572 | TCAP | c.111-12C= (n.111-12C=) | |
17 | g.39665704C>T | CA8532858 | TCAP | c.111-12C>T (n.111-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665705C>A | CA2637632493 | TCAP | c.111-11C>A (n.111-11C>A) | gnomAD v4 |
17 | g.39665705C= | CA2259200573 | TCAP | c.111-11C= (n.111-11C=) | |
17 | g.39665705C>T | CA771858041 | TCAP | c.111-11C>T (n.111-11C>T) | ClinVar dbSNP |
17 | g.39665706C>A | CA2842171093 | TCAP | c.111-10C>A (n.111-10C>A) | |
17 | g.39665706C>T | CA2637632494 | TCAP | c.111-10C>T (n.111-10C>T) | gnomAD v4 |
17 | g.39665707T>A | CA2637632496 | TCAP | c.111-9T>A (n.111-9T>A) | gnomAD v4 |
17 | g.39665707T>C | CA2637632495 | TCAP | c.111-9T>C (n.111-9T>C) | gnomAD v4 |
17 | g.39665708C>A | CA2637632497 | TCAP | c.111-8C>A (n.111-8C>A) | gnomAD v4 |
17 | g.39665708C>T | CA2637632498 | TCAP | c.111-8C>T (n.111-8C>T) | gnomAD v4 |
17 | g.39665709T>C | CA2838562444 | TCAP | c.111-7T>C (n.111-7T>C) | |
17 | g.39665710C= | CA2259200575 | TCAP | c.111-6C= (n.111-6C=) | |
17 | g.39665710C>T | CA290433946 | TCAP | c.111-6C>T (n.111-6C>T) | dbSNP |
17 | g.39665713del | CA2637632499 | TCAP | c.111-3del (n.111-3del) | gnomAD v4 |
17 | g.39665712C>A | CA2637632500 | TCAP | c.111-4C>A (n.111-4C>A) | gnomAD v4 |
17 | g.39665712C= | CA2259200576 | TCAP | c.111-4C= (n.111-4C=) | |
17 | g.39665712C>G | CA2637632501 | TCAP | c.111-4C>G (n.111-4C>G) | gnomAD v4 |
17 | g.39665712C>T | CA771858058 | TCAP | c.111-4C>T (n.111-4C>T) | dbSNP gnomAD v4 |
17 | g.39665713C>A | CA2637632502 | TCAP | c.111-3C>A (n.111-3C>A) | gnomAD v4 |
17 | g.39665713C= | CA2259200577 | TCAP | c.111-3C= (n.111-3C=) | |
17 | g.39665713C>G | CA290433949 | TCAP | c.111-3C>G (n.111-3C>G) | dbSNP |
17 | g.39665714A= | CA2259200579 | TCAP | c.111-2A= (n.111-2A=) | |
17 | g.39665714A>C | CA399303355 | TCAP | c.111-2A>C (n.111-2A>C) | |
17 | g.39665714A>G | CA290433951 | TCAP | c.111-2A>G (n.111-2A>G) | dbSNP |
17 | g.39665714A>T | CA290433963 | TCAP | c.111-2A>T (n.111-2A>T) | dbSNP |
17 | g.39665715G>A | CA399303363 | TCAP | c.111-1G>A (n.111-1G>A) | gnomAD v4 |
17 | g.39665715G>C | CA399303366 | TCAP | c.111-1G>C (n.111-1G>C) | gnomAD v4 |
17 | g.39665715G>T | CA399303369 | TCAP | c.111-1G>T (n.111-1G>T) | |
17 | g.39665716C>A | CA499888895 | TCAP | c.111C>A (p.Gly37=) | |
17 | g.39665716C= | CA2259200581 | TCAP | c.111C= (p.Gly37=) | |
17 | g.39665716C>G | CA499888896 | TCAP | c.111C>G (p.Gly37=) | ClinVar dbSNP gnomAD v2 |
17 | g.39665716C>T | CA499888897 | TCAP | c.111C>T (p.Gly37=) | dbSNP gnomAD v2 |
17 | g.39665717T>A | CA399303374 | TCAP | c.112T>A (p.Cys38Ser) | |
17 | g.39665717T>C | CA399303376 | TCAP | c.112T>C (p.Cys38Arg) | |
17 | g.39665717T>G | CA399303379 | TCAP | c.112T>G (p.Cys38Gly) | |
17 | g.39665718G>A | CA8532859 | TCAP | c.113G>A (p.Cys38Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665718G>C | CA399303386 | TCAP | c.113G>C (p.Cys38Ser) | |
17 | g.39665718G= | CA2259200584 | TCAP | c.113G= (p.Cys38=) | |
17 | g.39665718G>T | CA308835 | TCAP | c.113G>T (p.Cys38Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665719C>A | CA399303391 | TCAP | c.114C>A (p.Cys38Ter) | gnomAD v4 |
17 | g.39665719C>G | CA399303394 | TCAP | c.114C>G (p.Cys38Trp) | |
17 | g.39665719C>T | CA499888903 | TCAP | c.114C>T (p.Cys38=) | gnomAD v4 |
17 | g.39665720T>A | CA399303399 | TCAP | c.115T>A (p.Ser39Thr) | |
17 | g.39665720T>C | CA399303402 | TCAP | c.115T>C (p.Ser39Pro) | |
17 | g.39665720T>G | CA399303400 | TCAP | c.115T>G (p.Ser39Ala) | |
17 | g.39665721C>A | CA399303406 | TCAP | c.116C>A (p.Ser39Tyr) | gnomAD v4 |
17 | g.39665721C= | CA2259200587 | TCAP | c.116C= (p.Ser39=) | |
17 | g.39665721C>G | CA399303407 | TCAP | c.116C>G (p.Ser39Cys) | ClinVar dbSNP |
17 | g.39665721C>T | CA399303410 | TCAP | c.116C>T (p.Ser39Phe) | |
17 | g.39665722C>A | CA499888909 | TCAP | c.117C>A (p.Ser39=) | gnomAD v4 |
17 | g.39665722C= | CA2259200588 | TCAP | c.117C= (p.Ser39=) | |
17 | g.39665722C>G | CA499888911 | TCAP | c.117C>G (p.Ser39=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665722C>T | CA8532860 | TCAP | c.117C>T (p.Ser39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665723C>A | CA399303417 | TCAP | c.118C>A (p.Leu40Met) | gnomAD v4 |
17 | g.39665723C= | CA2259200590 | TCAP | c.118C= (p.Leu40=) | |
17 | g.39665723C>G | CA399303419 | TCAP | c.118C>G (p.Leu40Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665723C>T | CA10605509 | TCAP | c.118C>T (p.Leu40=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665724T>A | CA399303437 | TCAP | c.119T>A (p.Leu40Gln) | |
17 | g.39665724T>C | CA399303440 | TCAP | c.119T>C (p.Leu40Pro) | gnomAD v4 |
17 | g.39665724T>G | CA399303442 | TCAP | c.119T>G (p.Leu40Arg) | |
17 | g.39665724T= | CA2259200593 | TCAP | c.119T= (p.Leu40=) | |
17 | g.39665725G>A | CA499888920 | TCAP | c.120G>A (p.Leu40=) | gnomAD v4 |
17 | g.39665725G>C | CA499888921 | TCAP | c.120G>C (p.Leu40=) | |
17 | g.39665725G= | CA2259200594 | TCAP | c.120G= (p.Leu40=) | |
17 | g.39665725G>T | CA499888917 | TCAP | c.120G>T (p.Leu40=) | gnomAD v4 |
17 | g.39665725_39665745dup | CA983629406 | TCAP | c.120_140dup (p.Arg47_His48insHisGluGluAspThrGlnArg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665726C>A | CA399303446 | TCAP | c.121C>A (p.His41Asn) | |
17 | g.39665726C= | CA2259200595 | TCAP | c.121C= (p.His41=) | |
17 | g.39665726C>G | CA399303449 | TCAP | c.121C>G (p.His41Asp) | |
17 | g.39665726C>T | CA399303452 | TCAP | c.121C>T (p.His41Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665726_39665727insTC | CA626209136 | TCAP | c.121_122insTC (p.His41LeufsTer28) c.121_122insTC (p.His41LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665727A= | CA2259200596 | TCAP | c.122A= (p.His41=) | |
17 | g.39665727A>C | CA399303465 | TCAP | c.122A>C (p.His41Pro) | gnomAD v4 |
17 | g.39665727A>G | CA399303468 | TCAP | c.122A>G (p.His41Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.39665727A>T | CA399303467 | TCAP | c.122A>T (p.His41Leu) | |
17 | g.39665728T>A | CA399303470 | TCAP | c.123T>A (p.His41Gln) | |
17 | g.39665728T>C | CA499888925 | TCAP | c.123T>C (p.His41=) | |
17 | g.39665728T>G | CA399303473 | TCAP | c.123T>G (p.His41Gln) | |
17 | g.39665728_39665730delinsTGA | CA2259200597 | TCAP | c.123_125delinsTGA (p.His41=) | |
17 | g.39665728_39665731delinsTGAG | CA2259200598 | TCAP | c.123_126delinsTGAG (p.His41=) | |
17 | g.39665729G>A | CA399303478 | TCAP | c.124G>A (p.Glu42Lys) | gnomAD v4 |
17 | g.39665729G>C | CA399303480 | TCAP | c.124G>C (p.Glu42Gln) | |
17 | g.39665729G>T | CA399303485 | TCAP | c.124G>T (p.Glu42Ter) | |
17 | g.39665730_39665731del | CA626209137 | TCAP | c.125_126del (p.Glu42GlyfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665734_39665736del | CA626209138 | TCAP | c.129_131del (p.Glu43del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665730A>C | CA399303489 | TCAP | c.125A>C (p.Glu42Ala) | |
17 | g.39665730A>G | CA399303492 | TCAP | c.125A>G (p.Glu42Gly) | |
17 | g.39665730A>T | CA399303494 | TCAP | c.125A>T (p.Glu42Val) | |
17 | g.39665731G>A | CA499888926 | TCAP | c.126G>A (p.Glu42=) | |
17 | g.39665731G>C | CA399303498 | TCAP | c.126G>C (p.Glu42Asp) | |
17 | g.39665731G= | CA2259200600 | TCAP | c.126G= (p.Glu42=) | |
17 | g.39665731G>T | CA399303501 | TCAP | c.126G>T (p.Glu42Asp) | dbSNP |
17 | g.39665732G>A | CA399303514 | TCAP | c.127G>A (p.Glu43Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.39665732G>C | CA399303512 | TCAP | c.127G>C (p.Glu43Gln) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665732G= | CA2259200602 | TCAP | c.127G= (p.Glu43=) | |
17 | g.39665732G>T | CA399303510 | TCAP | c.127G>T (p.Glu43Ter) | |
17 | g.39665733A>C | CA399303517 | TCAP | c.128A>C (p.Glu43Ala) | |
17 | g.39665733A>G | CA399303522 | TCAP | c.128A>G (p.Glu43Gly) | |
17 | g.39665733A>T | CA399303519 | TCAP | c.128A>T (p.Glu43Val) | |
17 | g.39665734G>A | CA499888930 | TCAP | c.129G>A (p.Glu43=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665734G>C | CA399303525 | TCAP | c.129G>C (p.Glu43Asp) | |
17 | g.39665734G= | CA2259200604 | TCAP | c.129G= (p.Glu43=) | |
17 | g.39665734G>T | CA399303527 | TCAP | c.129G>T (p.Glu43Asp) | |
17 | g.39665735G>A | CA399303530 | TCAP | c.130G>A (p.Asp44Asn) | ClinVar |
17 | g.39665735G>C | CA399303531 | TCAP | c.130G>C (p.Asp44His) | |
17 | g.39665735G>T | CA399303532 | TCAP | c.130G>T (p.Asp44Tyr) | gnomAD v4 |
17 | g.39665736A>C | CA399303533 | TCAP | c.131A>C (p.Asp44Ala) | |
17 | g.39665736A>G | CA399303536 | TCAP | c.131A>G (p.Asp44Gly) | |
17 | g.39665736A>T | CA399303538 | TCAP | c.131A>T (p.Asp44Val) | |
17 | g.39665737C>A | CA399303540 | TCAP | c.132C>A (p.Asp44Glu) | |
17 | g.39665737C= | CA2259200609 | TCAP | c.132C= (p.Asp44=) | |
17 | g.39665737C>G | CA399303541 | TCAP | c.132C>G (p.Asp44Glu) | |
17 | g.39665737C>T | CA134914 | TCAP | c.132C>T (p.Asp44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665738A>C | CA399303557 | TCAP | c.133A>C (p.Thr45Pro) | |
17 | g.39665738A>G | CA399303552 | TCAP | c.133A>G (p.Thr45Ala) | |
17 | g.39665738A>T | CA399303554 | TCAP | c.133A>T (p.Thr45Ser) | |
17 | g.39665739C>A | CA399303564 | TCAP | c.134C>A (p.Thr45Asn) | |
17 | g.39665739C= | CA2259200610 | TCAP | c.134C= (p.Thr45=) | |
17 | g.39665739C>G | CA399303567 | TCAP | c.134C>G (p.Thr45Ser) | |
17 | g.39665739C>T | CA399303570 | TCAP | c.134C>T (p.Thr45Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665740C>A | CA499888935 | TCAP | c.135C>A (p.Thr45=) | dbSNP |
17 | g.39665740C= | CA2259200611 | TCAP | c.135C= (p.Thr45=) | |
17 | g.39665740C>G | CA499888936 | TCAP | c.135C>G (p.Thr45=) | gnomAD v4 |
17 | g.39665740C>T | CA499888937 | TCAP | c.135C>T (p.Thr45=) | gnomAD v4 |
17 | g.39665740_39665742delinsCCA | CA2259200612 | TCAP | c.135_137delinsCCA (p.Thr45=) | |
17 | g.39665741C>A | CA399303574 | TCAP | c.136C>A (p.Gln46Lys) | gnomAD v4 |
17 | g.39665741C= | CA2259200613 | TCAP | c.136C= (p.Gln46=) | |
17 | g.39665741C>G | CA399303578 | TCAP | c.136C>G (p.Gln46Glu) | dbSNP |
17 | g.39665741C>T | CA399303582 | TCAP | c.136C>T (p.Gln46Ter) | |
17 | g.39665741_39665742del | CA916080659 | TCAP | c.136_137del (p.Gln46GlufsTer3) | ClinVar dbSNP |
17 | g.39665742A= | CA2259200614 | TCAP | c.137A= (p.Gln46=) | |
17 | g.39665742A>C | CA399303585 | TCAP | c.137A>C (p.Gln46Pro) | |
17 | g.39665742A>G | CA399303587 | TCAP | c.137A>G (p.Gln46Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.39665742A>T | CA399303592 | TCAP | c.137A>T (p.Gln46Leu) | |
17 | g.39665743G>A | CA499888942 | TCAP | c.138G>A (p.Gln46=) | |
17 | g.39665743G>C | CA399303596 | TCAP | c.138G>C (p.Gln46His) | |
17 | g.39665743G>T | CA399303598 | TCAP | c.138G>T (p.Gln46His) | |
17 | g.39665744A= | CA2259200615 | TCAP | c.139A= (p.Arg47=) | |
17 | g.39665744A>C | CA8532861 | TCAP | c.139A>C (p.Arg47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665744A>G | CA399303608 | TCAP | c.139A>G (p.Arg47Gly) | |
17 | g.39665744A>T | CA399303605 | TCAP | c.139A>T (p.Arg47Ter) | |
17 | g.39665745G>A | CA399303612 | TCAP | c.140G>A (p.Arg47Lys) | COSMIC |
17 | g.39665745G>C | CA399303613 | TCAP | c.140G>C (p.Arg47Thr) | |
17 | g.39665745G= | CA2259200616 | TCAP | c.140G= (p.Arg47=) | |
17 | g.39665745G>T | CA399303614 | TCAP | c.140G>T (p.Arg47Ile) | dbSNP |
17 | g.39665746A= | CA2259200617 | TCAP | c.141A= (p.Arg47=) | |
17 | g.39665746A>C | CA399303616 | TCAP | c.141A>C (p.Arg47Ser) | |
17 | g.39665746A>G | CA499888946 | TCAP | c.141A>G (p.Arg47=) | dbSNP |
17 | g.39665746A>T | CA399303617 | TCAP | c.141A>T (p.Arg47Ser) | |
17 | g.39665747C>A | CA399303620 | TCAP | c.142C>A (p.His48Asn) | |
17 | g.39665747C>G | CA399303623 | TCAP | c.142C>G (p.His48Asp) | |
17 | g.39665747C>T | CA399303627 | TCAP | c.142C>T (p.His48Tyr) | |
17 | g.39665748A= | CA2259200618 | TCAP | c.143A= (p.His48=) | |
17 | g.39665748A>C | CA399303632 | TCAP | c.143A>C (p.His48Pro) | |
17 | g.39665748A>G | CA8532862 | TCAP | c.143A>G (p.His48Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665748A>T | CA399303637 | TCAP | c.143A>T (p.His48Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665749T>A | CA399303641 | TCAP | c.144T>A (p.His48Gln) | gnomAD v4 |
17 | g.39665749T>C | CA499888954 | TCAP | c.144T>C (p.His48=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665749T>G | CA399303647 | TCAP | c.144T>G (p.His48Gln) | gnomAD v4 |
17 | g.39665749T= | CA2259200620 | TCAP | c.144T= (p.His48=) | |
17 | g.39665750G>A | CA8532863 | TCAP | c.145G>A (p.Glu49Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665750G>C | CA399303657 | TCAP | c.145G>C (p.Glu49Gln) | |
17 | g.39665750G= | CA2259200623 | TCAP | c.145G= (p.Glu49=) | |
17 | g.39665750G>T | CA399303653 | TCAP | c.145G>T (p.Glu49Ter) | COSMIC |
17 | g.39665751A= | CA2259200625 | TCAP | c.146A= (p.Glu49=) | |
17 | g.39665751A>C | CA399303672 | TCAP | c.146A>C (p.Glu49Ala) | |
17 | g.39665751A>G | CA290433983 | TCAP | c.146A>G (p.Glu49Gly) | dbSNP |
17 | g.39665751A>T | CA399303677 | TCAP | c.146A>T (p.Glu49Val) | |
17 | g.39665752G>A | CA499888956 | TCAP | c.147G>A (p.Glu49=) | |
17 | g.39665752G>C | CA399303680 | TCAP | c.147G>C (p.Glu49Asp) | |
17 | g.39665752G>T | CA399303684 | TCAP | c.147G>T (p.Glu49Asp) | |
17 | g.39665752_39665756delinsGACCT | CA2259200626 | TCAP | c.147_151delinsGACCT (p.Glu49=) | |
17 | g.39665753A= | CA2259200627 | TCAP | c.148A= (p.Thr50=) | |
17 | g.39665753A>C | CA399303689 | TCAP | c.148A>C (p.Thr50Pro) | |
17 | g.39665753A>G | CA399303692 | TCAP | c.148A>G (p.Thr50Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.39665753A>T | CA399303697 | TCAP | c.148A>T (p.Thr50Ser) | |
17 | g.39665756_39665759del | CA983629449 | TCAP | c.151_154del (p.Tyr51ThrfsTer16) c.151_154del (p.Tyr51ThrfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665754C>A | CA399303701 | TCAP | c.149C>A (p.Thr50Asn) | |
17 | g.39665754C= | CA2259200628 | TCAP | c.149C= (p.Thr50=) | |
17 | g.39665754C>G | CA399303704 | TCAP | c.149C>G (p.Thr50Ser) | |
17 | g.39665754C>T | CA399303708 | TCAP | c.149C>T (p.Thr50Ile) | dbSNP |
17 | g.39665755C>A | CA499888962 | TCAP | c.150C>A (p.Thr50=) | gnomAD v4 |
17 | g.39665755C>G | CA499888963 | TCAP | c.150C>G (p.Thr50=) | |
17 | g.39665755C>T | CA499888961 | TCAP | c.150C>T (p.Thr50=) | |
17 | g.39665756T>A | CA399303717 | TCAP | c.151T>A (p.Tyr51Asn) | |
17 | g.39665756T>C | CA8532864 | TCAP | c.151T>C (p.Tyr51His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665756T>G | CA399303722 | TCAP | c.151T>G (p.Tyr51Asp) | |
17 | g.39665756T= | CA2259200630 | TCAP | c.151T= (p.Tyr51=) | |
17 | g.39665757A= | CA2259200633 | TCAP | c.152A= (p.Tyr51=) | |
17 | g.39665757A>C | CA399303736 | TCAP | c.152A>C (p.Tyr51Ser) | dbSNP |
17 | g.39665757A>G | CA399303733 | TCAP | c.152A>G (p.Tyr51Cys) | gnomAD v4 |
17 | g.39665757A>T | CA8532865 | TCAP | c.152A>T (p.Tyr51Phe) | dbSNP ExAC |
17 | g.39665757_39665758insAA | CA2637632568 | TCAP | c.152_153insAA (p.Tyr51Ter) | gnomAD v4 |
17 | g.39665758C>A | CA8532866 | TCAP | c.153C>A (p.Tyr51Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665758C= | CA2259200636 | TCAP | c.153C= (p.Tyr51=) | |
17 | g.39665758C>G | CA399303739 | TCAP | c.153C>G (p.Tyr51Ter) | |
17 | g.39665758C>T | CA499889081 | TCAP | c.153C>T (p.Tyr51=) | |
17 | g.39665759C>A | CA399303751 | TCAP | c.154C>A (p.His52Asn) | |
17 | g.39665759C= | CA2259200638 | TCAP | c.154C= (p.His52=) | |
17 | g.39665759C>G | CA8532867 | TCAP | c.154C>G (p.His52Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665759C>T | CA399303759 | TCAP | c.154C>T (p.His52Tyr) | |
17 | g.39665760A= | CA2259200641 | TCAP | c.155A= (p.His52=) | |
17 | g.39665760A>C | CA399303763 | TCAP | c.155A>C (p.His52Pro) | |
17 | g.39665760A>G | CA399303768 | TCAP | c.155A>G (p.His52Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665760A>T | CA399303765 | TCAP | c.155A>T (p.His52Leu) | |
17 | g.39665761C>A | CA399303770 | TCAP | c.156C>A (p.His52Gln) | gnomAD v4 |
17 | g.39665761C>G | CA399303773 | TCAP | c.156C>G (p.His52Gln) | |
17 | g.39665761C>T | CA499889082 | TCAP | c.156C>T (p.His52=) | gnomAD v4 |
17 | g.39665762C>A | CA399303779 | TCAP | c.157C>A (p.Gln53Lys) | gnomAD v4 COSMIC |
17 | g.39665762C= | CA2259200643 | TCAP | c.157C= (p.Gln53=) | |
17 | g.39665762C>G | CA399303781 | TCAP | c.157C>G (p.Gln53Glu) | |
17 | g.39665762C>T | CA117567 | TCAP | c.157C>T (p.Gln53Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665763A= | CA2259200645 | TCAP | c.158A= (p.Gln53=) | |
17 | g.39665763A>C | CA399303786 | TCAP | c.158A>C (p.Gln53Pro) | |
17 | g.39665763A>G | CA399303788 | TCAP | c.158A>G (p.Gln53Arg) | dbSNP |
17 | g.39665763A>T | CA399303790 | TCAP | c.158A>T (p.Gln53Leu) | |
17 | g.39665764G>A | CA499889083 | TCAP | c.159G>A (p.Gln53=) | |
17 | g.39665764G>C | CA399303794 | TCAP | c.159G>C (p.Gln53His) | |
17 | g.39665764G>T | CA399303797 | TCAP | c.159G>T (p.Gln53His) | gnomAD v4 |
17 | g.39665765C>A | CA399303807 | TCAP | c.160C>A (p.Gln54Lys) | gnomAD v4 |
17 | g.39665765C>G | CA399303806 | TCAP | c.160C>G (p.Gln54Glu) | |
17 | g.39665765C>T | CA399303804 | TCAP | c.160C>T (p.Gln54Ter) | |
17 | g.39665766A= | CA2259200647 | TCAP | c.161A= (p.Gln54=) | |
17 | g.39665766A>C | CA399303808 | TCAP | c.161A>C (p.Gln54Pro) | |
17 | g.39665766A>G | CA399303809 | TCAP | c.161A>G (p.Gln54Arg) | |
17 | g.39665766A>T | CA399303810 | TCAP | c.161A>T (p.Gln54Leu) | |
17 | g.39665767G>A | CA499889084 | TCAP | c.162G>A (p.Gln54=) | gnomAD v4 |
17 | g.39665767G>C | CA399303813 | TCAP | c.162G>C (p.Gln54His) | |
17 | g.39665767G>T | CA399303818 | TCAP | c.162G>T (p.Gln54His) | |
17 | g.39665770dup | CA2259200650 | TCAP | c.165dup (p.Gln56AlafsTer?) c.165dup (p.Gln56AlafsTer28) | dbSNP |
17 | g.39665769_39665786dup | CA626209139 | TCAP | c.164_181dup (p.Leu60_Val61insGlyGlnCysGlnValLeu) c.164_174+7dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665768G>A | CA399303820 | TCAP | c.163G>A (p.Gly55Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665768G>C | CA399303822 | TCAP | c.163G>C (p.Gly55Arg) | gnomAD v4 |
17 | g.39665768G= | CA2259200653 | TCAP | c.163G= (p.Gly55=) | |
17 | g.39665768G>T | CA399303832 | TCAP | c.163G>T (p.Gly55Trp) | |
17 | g.39665769G>A | CA399303835 | TCAP | c.164G>A (p.Gly55Glu) | |
17 | g.39665769G>C | CA399303837 | TCAP | c.164G>C (p.Gly55Ala) | |
17 | g.39665769G>T | CA399303839 | TCAP | c.164G>T (p.Gly55Val) | gnomAD v4 |
17 | g.39665770G>A | CA290433989 | TCAP | c.165G>A (p.Gly55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665770G>C | CA499889085 | TCAP | c.165G>C (p.Gly55=) | ClinVar dbSNP gnomAD v4 |
17 | g.39665770G= | CA2259200654 | TCAP | c.165G= (p.Gly55=) | |
17 | g.39665770G>T | CA499889086 | TCAP | c.165G>T (p.Gly55=) | |
17 | g.39665771C>A | CA399303852 | TCAP | c.166C>A (p.Gln56Lys) | |
17 | g.39665771C= | CA2259200657 | TCAP | c.166C= (p.Gln56=) | |
17 | g.39665771C>G | CA399303850 | TCAP | c.166C>G (p.Gln56Glu) | |
17 | g.39665771C>T | CA399303846 | TCAP | c.166C>T (p.Gln56Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665772A>C | CA399303854 | TCAP | c.167A>C (p.Gln56Pro) | gnomAD v4 |
17 | g.39665772A>G | CA399303856 | TCAP | c.167A>G (p.Gln56Arg) | gnomAD v4 |
17 | g.39665772A>T | CA399303858 | TCAP | c.167A>T (p.Gln56Leu) | |
17 | g.39665773G>A | CA16615340 | TCAP | c.168G>A (p.Gln56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665773G>C | CA399303860 | TCAP | c.168G>C (p.Gln56His) | |
17 | g.39665773G= | CA2259200660 | TCAP | c.168G= (p.Gln56=) | |
17 | g.39665773G>T | CA399303864 | TCAP | c.168G>T (p.Gln56His) | |
17 | g.39665774T>A | CA399303867 | TCAP | c.169T>A (p.Cys57Ser) | |
17 | g.39665774T>C | CA10604666 | TCAP | c.169T>C (p.Cys57Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.39665774T>G | CA399303870 | TCAP | c.169T>G (p.Cys57Gly) | |
17 | g.39665774T= | CA2259200667 | TCAP | c.169T= (p.Cys57=) | |
17 | g.39665775G>A | CA8532868 | TCAP | c.170G>A (p.Cys57Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665775G>C | CA399303875 | TCAP | c.170G>C (p.Cys57Ser) | |
17 | g.39665775G= | CA2259200678 | TCAP | c.170G= (p.Cys57=) | |
17 | g.39665775G>T | CA399303878 | TCAP | c.170G>T (p.Cys57Phe) | |
17 | g.39665775dup | CA2842171094 | TCAP | c.170dup (p.Cys57TrpfsTer?) c.170dup (p.Cys57TrpfsTer27) | |
17 | g.39665776C>A | CA290433996 | TCAP | c.171C>A (p.Cys57Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665776C= | CA2259200683 | TCAP | c.171C= (p.Cys57=) | |
17 | g.39665776C>G | CA8532869 | TCAP | c.171C>G (p.Cys57Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665776C>T | CA499889087 | TCAP | c.171C>T (p.Cys57=) | dbSNP |
17 | g.39665777C>A | CA399303884 | TCAP | c.172C>A (p.Gln58Lys) | gnomAD v4 |
17 | g.39665777C>G | CA399303887 | TCAP | c.172C>G (p.Gln58Glu) | ClinVar gnomAD v4 |
17 | g.39665777C>T | CA399303885 | TCAP | c.172C>T (p.Gln58Ter) | |
17 | g.39665778A= | CA2259200687 | TCAP | c.173A= (p.Gln58=) | |
17 | g.39665778A>C | CA399303892 | TCAP | c.173A>C (p.Gln58Pro) | |
17 | g.39665778A>G | CA399303895 | TCAP | c.173A>G (p.Gln58Arg) | dbSNP |
17 | g.39665778A>T | CA399303897 | TCAP | c.173A>T (p.Gln58Leu) | |
17 | g.39665779G>A | CA499889088 | TCAP | c.174G>A (p.Gln58=) | |
17 | g.39665779G>C | CA399303903 | TCAP | c.174G>C (p.Gln58His) | |
17 | g.39665779G>T | CA399303910 | TCAP | c.174G>T (p.Gln58His) | |
17 | g.39665780G>A | CA16620401 | TCAP | c.175G>A (p.Val59Met) c.174+1G>A (n.174+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665780G>C | CA399303914 | TCAP | c.175G>C (p.Val59Leu) c.174+1G>C (n.174+1G>C) | |
17 | g.39665780G= | CA2259200692 | TCAP | c.175G= (p.Val59=) c.174+1G= (n.174+1G=) | |
17 | g.39665780G>T | CA399303915 | TCAP | c.175G>T (p.Val59Leu) c.174+1G>T (n.174+1G>T) | gnomAD v4 |
17 | g.39665781T>A | CA399303917 | TCAP | c.176T>A (p.Val59Glu) c.174+2T>A (n.174+2T>A) | |
17 | g.39665781T>C | CA399303919 | TCAP | c.176T>C (p.Val59Ala) c.174+2T>C (n.174+2T>C) | dbSNP COSMIC |
17 | g.39665781T>G | CA399303920 | TCAP | c.176T>G (p.Val59Gly) c.174+2T>G (n.174+2T>G) | |
17 | g.39665781T= | CA2259200697 | TCAP | c.176T= (p.Val59=) c.174+2T= (n.174+2T=) | |
17 | g.39665782G>A | CA499889089 | TCAP | c.177G>A (p.Val59=) c.174+3G>A (n.174+3G>A) | gnomAD v4 |
17 | g.39665782G>C | CA499889090 | TCAP | c.177G>C (p.Val59=) c.174+3G>C (n.174+3G>C) | dbSNP |
17 | g.39665782G= | CA2259200700 | TCAP | c.177G= (p.Val59=) c.174+3G= (n.174+3G=) | |
17 | g.39665782G>T | CA499889091 | TCAP | c.177G>T (p.Val59=) c.174+3G>T (n.174+3G>T) | |
17 | g.39665783C>A | CA399303925 | TCAP | c.178C>A (p.Leu60Met) c.174+4C>A (n.174+4C>A) | gnomAD v4 |
17 | g.39665783C= | CA2259200703 | TCAP | c.178C= (p.Leu60=) c.174+4C= (n.174+4C=) | |
17 | g.39665783C>G | CA399303926 | TCAP | c.178C>G (p.Leu60Val) c.174+4C>G (n.174+4C>G) | ClinVar dbSNP gnomAD v4 |
17 | g.39665783C>T | CA8532870 | TCAP | c.178C>T (p.Leu60=) c.174+4C>T (n.174+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665783dup | CA2842171095 | TCAP | c.178dup (p.Leu60ProfsTer?) c.174+4dup (n.174+4dup) | |
17 | g.39665784T>A | CA399303927 | TCAP | c.179T>A (p.Leu60Gln) c.174+5T>A (n.174+5T>A) | |
17 | g.39665784T>C | CA399303928 | TCAP | c.179T>C (p.Leu60Pro) c.174+5T>C (n.174+5T>C) | |
17 | g.39665784T>G | CA399303931 | TCAP | c.179T>G (p.Leu60Arg) c.174+5T>G (n.174+5T>G) | |
17 | g.39665785G>A | CA499889093 | TCAP | c.180G>A (p.Leu60=) c.174+6G>A (n.174+6G>A) | |
17 | g.39665785G>C | CA499889092 | TCAP | c.180G>C (p.Leu60=) c.174+6G>C (n.174+6G>C) | |
17 | g.39665785G>T | CA499889094 | TCAP | c.180G>T (p.Leu60=) c.174+6G>T (n.174+6G>T) | gnomAD v4 |
17 | g.39665786G>A | CA399303933 | TCAP | c.181G>A (p.Val61Met) c.174+7G>A (n.174+7G>A) | |
17 | g.39665786G>C | CA399303937 | TCAP | c.181G>C (p.Val61Leu) c.174+7G>C (n.174+7G>C) | |
17 | g.39665786G>T | CA399303941 | TCAP | c.181G>T (p.Val61Leu) c.174+7G>T (n.174+7G>T) | gnomAD v4 |
17 | g.39665787T>A | CA399303944 | TCAP | c.182T>A (p.Val61Glu) c.174+8T>A (n.174+8T>A) | |
17 | g.39665787T>C | CA399303947 | TCAP | c.182T>C (p.Val61Ala) c.174+8T>C (n.174+8T>C) | |
17 | g.39665787T>G | CA399303948 | TCAP | c.182T>G (p.Val61Gly) c.174+8T>G (n.174+8T>G) | |
17 | g.39665788G>A | CA499889095 | TCAP | c.183G>A (p.Val61=) c.174+9G>A (n.174+9G>A) | dbSNP |
17 | g.39665788G>C | CA499889096 | TCAP | c.183G>C (p.Val61=) c.174+9G>C (n.174+9G>C) | |
17 | g.39665788G= | CA2259200706 | TCAP | c.183G= (p.Val61=) c.174+9G= (n.174+9G=) | |
17 | g.39665788G>T | CA499889097 | TCAP | c.183G>T (p.Val61=) c.174+9G>T (n.174+9G>T) | |
17 | g.39665789C>A | CA399303952 | TCAP | c.184C>A (p.Gln62Lys) c.174+10C>A (n.174+10C>A) | |
17 | g.39665789C>G | CA399303956 | TCAP | c.184C>G (p.Gln62Glu) c.174+10C>G (n.174+10C>G) | |
17 | g.39665789C>T | CA399303960 | TCAP | c.184C>T (p.Gln62Ter) c.174+10C>T (n.174+10C>T) | ClinVar gnomAD v4 |
17 | g.39665790A>C | CA399303965 | TCAP | c.185A>C (p.Gln62Pro) c.174+11A>C (n.174+11A>C) | |
17 | g.39665790A>G | CA399303968 | TCAP | c.185A>G (p.Gln62Arg) c.174+11A>G (n.174+11A>G) | gnomAD v4 |
17 | g.39665790A>T | CA399303969 | TCAP | c.185A>T (p.Gln62Leu) c.174+11A>T (n.174+11A>T) | |
17 | g.39665791G>A | CA499889098 | TCAP | c.186G>A (p.Gln62=) c.174+12G>A (n.174+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665791G>C | CA399303970 | TCAP | c.186G>C (p.Gln62His) c.174+12G>C (n.174+12G>C) | |
17 | g.39665791G= | CA2259200709 | TCAP | c.186G= (p.Gln62=) c.174+12G= (n.174+12G=) | |
17 | g.39665791G>T | CA399303971 | TCAP | c.186G>T (p.Gln62His) c.174+12G>T (n.174+12G>T) | |
17 | g.39665792C>A | CA399303972 | TCAP | c.187C>A (p.Arg63Ser) c.174+13C>A (n.174+13C>A) | gnomAD v4 |
17 | g.39665792C= | CA2259200713 | TCAP | c.187C= (p.Arg63=) c.174+13C= (n.174+13C=) | |
17 | g.39665792C>G | CA399303974 | TCAP | c.187C>G (p.Arg63Gly) c.174+13C>G (n.174+13C>G) | |
17 | g.39665792C>T | CA8532871 | TCAP | c.187C>T (p.Arg63Cys) c.174+13C>T (n.174+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665793G>A | CA8532872 | TCAP | c.188G>A (p.Arg63His) c.174+14G>A (n.174+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665793G>C | CA399303989 | TCAP | c.188G>C (p.Arg63Pro) c.174+14G>C (n.174+14G>C) | |
17 | g.39665793G= | CA2259200717 | TCAP | c.188G= (p.Arg63=) c.174+14G= (n.174+14G=) | |
17 | g.39665793G>T | CA399303996 | TCAP | c.188G>T (p.Arg63Leu) c.174+14G>T (n.174+14G>T) | |
17 | g.39665794C>A | CA499889099 | TCAP | c.189C>A (p.Arg63=) c.174+15C>A (n.174+15C>A) | |
17 | g.39665794C= | CA2259200719 | TCAP | c.189C= (p.Arg63=) c.174+15C= (n.174+15C=) | |
17 | g.39665794C>G | CA499889100 | TCAP | c.189C>G (p.Arg63=) c.174+15C>G (n.174+15C>G) | |
17 | g.39665794C>T | CA499889101 | TCAP | c.189C>T (p.Arg63=) c.174+15C>T (n.174+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665795T>A | CA399304001 | TCAP | c.190T>A (p.Ser64Thr) c.174+16T>A (n.174+16T>A) | gnomAD v4 |
17 | g.39665795T>C | CA399304004 | TCAP | c.190T>C (p.Ser64Pro) c.174+16T>C (n.174+16T>C) | gnomAD v4 |
17 | g.39665795T>G | CA399304008 | TCAP | c.190T>G (p.Ser64Ala) c.174+16T>G (n.174+16T>G) | |
17 | g.39665796C>A | CA399304018 | TCAP | c.191C>A (p.Ser64Ter) c.174+17C>A (n.174+17C>A) | |
17 | g.39665796C= | CA2259200722 | TCAP | c.191C= (p.Ser64=) c.174+17C= (n.174+17C=) | |
17 | g.39665796C>G | CA399304021 | TCAP | c.191C>G (p.Ser64Trp) c.174+17C>G (n.174+17C>G) | |
17 | g.39665796C>T | CA282448 | TCAP | c.191C>T (p.Ser64Leu) c.174+17C>T (n.174+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665797G>A | CA8532873 | TCAP | c.192G>A (p.Ser64=) c.174+18G>A (n.174+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665797G>C | CA499889103 | TCAP | c.192G>C (p.Ser64=) c.174+18G>C (n.174+18G>C) | dbSNP |
17 | g.39665797G= | CA2259200730 | TCAP | c.192G= (p.Ser64=) c.174+18G= (n.174+18G=) | |
17 | g.39665797G>T | CA499889102 | TCAP | c.192G>T (p.Ser64=) c.174+18G>T (n.174+18G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665798C>A | CA399304029 | TCAP | c.193C>A (p.Pro65Thr) c.174+19C>A (n.174+19C>A) | |
17 | g.39665798C>G | CA399304035 | TCAP | c.193C>G (p.Pro65Ala) c.174+19C>G (n.174+19C>G) | |
17 | g.39665798C>T | CA399304031 | TCAP | c.193C>T (p.Pro65Ser) c.174+19C>T (n.174+19C>T) | |
17 | g.39665800del | CA2637632657 | TCAP | c.195del (p.Trp66GlyfsTer2) c.174+21del (n.174+21del) | gnomAD v4 |
17 | g.39665799C>A | CA399304040 | TCAP | c.194C>A (p.Pro65His) c.174+20C>A (n.174+20C>A) | |
17 | g.39665799C= | CA2259200736 | TCAP | c.194C= (p.Pro65=) c.174+20C= (n.174+20C=) | |
17 | g.39665799C>G | CA399304042 | TCAP | c.194C>G (p.Pro65Arg) c.174+20C>G (n.174+20C>G) | |
17 | g.39665799C>T | CA399304044 | TCAP | c.194C>T (p.Pro65Leu) c.174+20C>T (n.174+20C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |