Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18787459_18787460delinsTC | CA2326526398 | COMP | c.1135+31_1135+32delinsGA (n.1135+31_1135+32delinsGA) c.976+31_976+32delinsGA (n.976+31_976+32delinsGA) c.1036+31_1036+32delinsGA (n.1036+31_1036+32delinsGA) | |
19 | g.18787460del | CA9316529 | COMP | c.1135+31del (n.1135+31del) c.976+31del (n.976+31del) c.1036+31del (n.1036+31del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787460C= | CA2326526400 | COMP | c.1135+31G= (n.1135+31G=) c.976+31G= (n.976+31G=) c.1036+31G= (n.1036+31G=) | |
19 | g.18787460C>T | CA306256459 | COMP | c.1135+31G>A (n.1135+31G>A) c.976+31G>A (n.976+31G>A) c.1036+31G>A (n.1036+31G>A) | dbSNP gnomAD v4 |
19 | g.18787461del | CA404887577 | COMP | c.1135+30del (n.1135+30del) c.976+30del (n.976+30del) c.1036+30del (n.1036+30del) | |
19 | g.18787462C>A | CA2576725845 | COMP | c.1135+29G>T (n.1135+29G>T) c.976+29G>T (n.976+29G>T) c.1036+29G>T (n.1036+29G>T) | gnomAD v4 |
19 | g.18787463C>A | CA9316530 | COMP | c.1135+28G>T (n.1135+28G>T) c.976+28G>T (n.976+28G>T) c.1036+28G>T (n.1036+28G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787463C= | CA2326526402 | COMP | c.1135+28G= (n.1135+28G=) c.976+28G= (n.976+28G=) c.1036+28G= (n.1036+28G=) | |
19 | g.18787463C>T | CA783973071 | COMP | c.1135+28G>A (n.1135+28G>A) c.976+28G>A (n.976+28G>A) c.1036+28G>A (n.1036+28G>A) | dbSNP |
19 | g.18787464T>A | CA9316531 | COMP | c.1135+27A>T (n.1135+27A>T) c.976+27A>T (n.976+27A>T) c.1036+27A>T (n.1036+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787464T>C | CA9316532 | COMP | c.1135+27A>G (n.1135+27A>G) c.976+27A>G (n.976+27A>G) c.1036+27A>G (n.1036+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787464T= | CA2326526403 | COMP | c.1135+27A= (n.1135+27A=) c.976+27A= (n.976+27A=) c.1036+27A= (n.1036+27A=) | |
19 | g.18787465C>A | CA632375734 | COMP | c.1135+26G>T (n.1135+26G>T) c.976+26G>T (n.976+26G>T) c.1036+26G>T (n.1036+26G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787465C= | CA2326526404 | COMP | c.1135+26G= (n.1135+26G=) c.976+26G= (n.976+26G=) c.1036+26G= (n.1036+26G=) | |
19 | g.18787465C>G | CA2583622617 | COMP | c.1135+26G>C (n.1135+26G>C) c.976+26G>C (n.976+26G>C) c.1036+26G>C (n.1036+26G>C) | gnomAD v4 |
19 | g.18787465C>T | CA2583622618 | COMP | c.1135+26G>A (n.1135+26G>A) c.976+26G>A (n.976+26G>A) c.1036+26G>A (n.1036+26G>A) | gnomAD v4 |
19 | g.18787466G>A | CA9316533 | COMP | c.1135+25C>T (n.1135+25C>T) c.976+25C>T (n.976+25C>T) c.1036+25C>T (n.1036+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787466G>C | CA2583622619 | COMP | c.1135+25C>G (n.1135+25C>G) c.976+25C>G (n.976+25C>G) c.1036+25C>G (n.1036+25C>G) | gnomAD v4 |
19 | g.18787466G= | CA2326526405 | COMP | c.1135+25C= (n.1135+25C=) c.976+25C= (n.976+25C=) c.1036+25C= (n.1036+25C=) | |
19 | g.18787466G>T | CA2576725846 | COMP | c.1135+25C>A (n.1135+25C>A) c.976+25C>A (n.976+25C>A) c.1036+25C>A (n.1036+25C>A) | gnomAD v4 |
19 | g.18787467C>A | CA2326526407 | COMP | c.1135+24G>T (n.1135+24G>T) c.976+24G>T (n.976+24G>T) c.1036+24G>T (n.1036+24G>T) | dbSNP gnomAD v4 |
19 | g.18787467C= | CA2326526406 | COMP | c.1135+24G= (n.1135+24G=) c.976+24G= (n.976+24G=) c.1036+24G= (n.1036+24G=) | |
19 | g.18787467C>T | CA9316534 | COMP | c.1135+24G>A (n.1135+24G>A) c.976+24G>A (n.976+24G>A) c.1036+24G>A (n.1036+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787472dup | CA2583622621 | COMP | c.1135+24dup (n.1135+24dup) c.976+24dup (n.976+24dup) c.1036+24dup (n.1036+24dup) | dbSNP gnomAD v4 |
19 | g.18787472del | CA2583622620 | COMP | c.1135+24del (n.1135+24del) c.976+24del (n.976+24del) c.1036+24del (n.1036+24del) | gnomAD v4 |
19 | g.18787468C>T | CA2583622622 | COMP | c.1135+23G>A (n.1135+23G>A) c.976+23G>A (n.976+23G>A) c.1036+23G>A (n.1036+23G>A) | gnomAD v4 |
19 | g.18787469C>A | CA2513951589 | COMP | c.1135+22G>T (n.1135+22G>T) c.976+22G>T (n.976+22G>T) c.1036+22G>T (n.1036+22G>T) | |
19 | g.18787469C>T | CA2576725847 | COMP | c.1135+22G>A (n.1135+22G>A) c.976+22G>A (n.976+22G>A) c.1036+22G>A (n.1036+22G>A) | |
19 | g.18787470C>A | CA2576725848 | COMP | c.1135+21G>T (n.1135+21G>T) c.976+21G>T (n.976+21G>T) c.1036+21G>T (n.1036+21G>T) | |
19 | g.18787470C= | CA2326526408 | COMP | c.1135+21G= (n.1135+21G=) c.976+21G= (n.976+21G=) c.1036+21G= (n.1036+21G=) | |
19 | g.18787470C>T | CA9316535 | COMP | c.1135+21G>A (n.1135+21G>A) c.976+21G>A (n.976+21G>A) c.1036+21G>A (n.1036+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787471C>A | CA632375735 | COMP | c.1135+20G>T (n.1135+20G>T) c.976+20G>T (n.976+20G>T) c.1036+20G>T (n.1036+20G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787471C= | CA2326526412 | COMP | c.1135+20G= (n.1135+20G=) c.976+20G= (n.976+20G=) c.1036+20G= (n.1036+20G=) | |
19 | g.18787471C>G | CA306256480 | COMP | c.1135+20G>C (n.1135+20G>C) c.976+20G>C (n.976+20G>C) c.1036+20G>C (n.1036+20G>C) | dbSNP |
19 | g.18787471C>T | CA306256484 | COMP | c.1135+20G>A (n.1135+20G>A) c.976+20G>A (n.976+20G>A) c.1036+20G>A (n.1036+20G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787472C>A | CA2576725849 | COMP | c.1135+19G>T (n.1135+19G>T) c.976+19G>T (n.976+19G>T) c.1036+19G>T (n.1036+19G>T) | |
19 | g.18787472C= | CA2326526414 | COMP | c.1135+19G= (n.1135+19G=) c.976+19G= (n.976+19G=) c.1036+19G= (n.1036+19G=) | |
19 | g.18787472C>T | CA2583622623 | COMP | c.1135+19G>A (n.1135+19G>A) c.976+19G>A (n.976+19G>A) c.1036+19G>A (n.1036+19G>A) | gnomAD v4 |
19 | g.18787473A= | CA2326526415 | COMP | c.1135+18T= (n.1135+18T=) c.976+18T= (n.976+18T=) c.1036+18T= (n.1036+18T=) | |
19 | g.18787473A>C | CA2326526417 | COMP | c.1135+18T>G (n.1135+18T>G) c.976+18T>G (n.976+18T>G) c.1036+18T>G (n.1036+18T>G) | dbSNP gnomAD v4 |
19 | g.18787474dup | CA404887614 | COMP | c.1135+18dup (n.1135+18dup) c.976+18dup (n.976+18dup) c.1036+18dup (n.1036+18dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787474A>C | CA994237251 | COMP | c.1135+17T>G (n.1135+17T>G) c.976+17T>G (n.976+17T>G) c.1036+17T>G (n.1036+17T>G) | gnomAD v3 gnomAD v4 |
19 | g.18787474A>G | CA2576725850 | COMP | c.1135+17T>C (n.1135+17T>C) c.976+17T>C (n.976+17T>C) c.1036+17T>C (n.1036+17T>C) | gnomAD v4 |
19 | g.18787475C>A | CA2326526420 | COMP | c.1135+16G>T (n.1135+16G>T) c.976+16G>T (n.976+16G>T) c.1036+16G>T (n.1036+16G>T) | dbSNP gnomAD v4 |
19 | g.18787475C= | CA2326526419 | COMP | c.1135+16G= (n.1135+16G=) c.976+16G= (n.976+16G=) c.1036+16G= (n.1036+16G=) | |
19 | g.18787475C>T | CA306256494 | COMP | c.1135+16G>A (n.1135+16G>A) c.976+16G>A (n.976+16G>A) c.1036+16G>A (n.1036+16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787476C>G | CA2583622624 | COMP | c.1135+15G>C (n.1135+15G>C) c.976+15G>C (n.976+15G>C) c.1036+15G>C (n.1036+15G>C) | gnomAD v4 |
19 | g.18787477C>A | CA2583622625 | COMP | c.1135+14G>T (n.1135+14G>T) c.976+14G>T (n.976+14G>T) c.1036+14G>T (n.1036+14G>T) | gnomAD v4 |
19 | g.18787477C>T | CA2576725851 | COMP | c.1135+14G>A (n.1135+14G>A) c.976+14G>A (n.976+14G>A) c.1036+14G>A (n.1036+14G>A) | gnomAD v4 |
19 | g.18787478C>T | CA2583622626 | COMP | c.1135+13G>A (n.1135+13G>A) c.976+13G>A (n.976+13G>A) c.1036+13G>A (n.1036+13G>A) | gnomAD v4 |
19 | g.18787480A= | CA2326526421 | COMP | c.1135+11T= (n.1135+11T=) c.976+11T= (n.976+11T=) c.1036+11T= (n.1036+11T=) | |
19 | g.18787480A>C | CA994237266 | COMP | c.1135+11T>G (n.1135+11T>G) c.976+11T>G (n.976+11T>G) c.1036+11T>G (n.1036+11T>G) | gnomAD v3 gnomAD v4 |
19 | g.18787480A>G | CA9316536 | COMP | c.1135+11T>C (n.1135+11T>C) c.976+11T>C (n.976+11T>C) c.1036+11T>C (n.1036+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787481T>A | CA2583622627 | COMP | c.1135+10A>T (n.1135+10A>T) c.976+10A>T (n.976+10A>T) c.1036+10A>T (n.1036+10A>T) | gnomAD v4 |
19 | g.18787482C>T | CA2583622628 | COMP | c.1135+9G>A (n.1135+9G>A) c.976+9G>A (n.976+9G>A) c.1036+9G>A (n.1036+9G>A) | gnomAD v4 |
19 | g.18787484A>G | CA2813847476 | COMP | c.1135+7T>C (n.1135+7T>C) c.976+7T>C (n.976+7T>C) c.1036+7T>C (n.1036+7T>C) | |
19 | g.18787485G>A | CA2326526425 | COMP | c.1135+6C>T (n.1135+6C>T) c.976+6C>T (n.976+6C>T) c.1036+6C>T (n.1036+6C>T) | dbSNP gnomAD v4 |
19 | g.18787485G= | CA2326526423 | COMP | c.1135+6C= (n.1135+6C=) c.976+6C= (n.976+6C=) c.1036+6C= (n.1036+6C=) | |
19 | g.18787486C= | CA2326526428 | COMP | c.1135+5G= (n.1135+5G=) c.976+5G= (n.976+5G=) c.1036+5G= (n.1036+5G=) | |
19 | g.18787486C>T | CA783973076 | COMP | c.1135+5G>A (n.1135+5G>A) c.976+5G>A (n.976+5G>A) c.1036+5G>A (n.1036+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787488C>A | CA2583622629 | COMP | c.1135+3G>T (n.1135+3G>T) c.976+3G>T (n.976+3G>T) c.1036+3G>T (n.1036+3G>T) | gnomAD v4 |
19 | g.18787489A= | CA2326526432 | COMP | c.1135+2T= (n.1135+2T=) c.976+2T= (n.976+2T=) c.1036+2T= (n.1036+2T=) | |
19 | g.18787489A>C | CA404887628 | COMP | c.1135+2T>G (n.1135+2T>G) c.976+2T>G (n.976+2T>G) c.1036+2T>G (n.1036+2T>G) | |
19 | g.18787489A>G | CA404887631 | COMP | c.1135+2T>C (n.1135+2T>C) c.976+2T>C (n.976+2T>C) c.1036+2T>C (n.1036+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787489A>T | CA404887637 | COMP | c.1135+2T>A (n.1135+2T>A) c.976+2T>A (n.976+2T>A) c.1036+2T>A (n.1036+2T>A) | |
19 | g.18787490C>A | CA404887641 | COMP | c.1135+1G>T (n.1135+1G>T) c.976+1G>T (n.976+1G>T) c.1036+1G>T (n.1036+1G>T) | |
19 | g.18787490C= | CA2326526435 | COMP | c.1135+1G= (n.1135+1G=) c.976+1G= (n.976+1G=) c.1036+1G= (n.1036+1G=) | |
19 | g.18787490C>G | CA404887644 | COMP | c.1135+1G>C (n.1135+1G>C) c.976+1G>C (n.976+1G>C) c.1036+1G>C (n.1036+1G>C) | |
19 | g.18787490C>T | CA404887643 | COMP | c.1135+1G>A (n.1135+1G>A) c.976+1G>A (n.976+1G>A) c.1036+1G>A (n.1036+1G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18787491G>A | CA404887646 | COMP | c.1135C>T (p.Arg379Trp) c.976C>T (p.Arg326Trp) c.1036C>T (p.Arg346Trp) | |
19 | g.18787491G>C | CA404887650 | COMP | c.1135C>G (p.Arg379Gly) c.976C>G (p.Arg326Gly) c.1036C>G (p.Arg346Gly) | |
19 | g.18787491G= | CA2326526437 | COMP | c.1135C= (p.Arg379=) c.976C= (p.Arg326=) c.1036C= (p.Arg346=) | |
19 | g.18787491G>T | CA506053050 | COMP | c.1135C>A (p.Arg379=) c.976C>A (p.Arg326=) c.1036C>A (p.Arg346=) | dbSNP gnomAD v4 |
19 | g.18787492G>A | CA506053051 | COMP | c.1134C>T (p.Asp378=) c.975C>T (p.Asp325=) c.1035C>T (p.Asp345=) | gnomAD v4 |
19 | g.18787492G>C | CA404887654 | COMP | c.1134C>G (p.Asp378Glu) c.975C>G (p.Asp325Glu) c.1035C>G (p.Asp345Glu) | |
19 | g.18787492G>T | CA404887656 | COMP | c.1134C>A (p.Asp378Glu) c.975C>A (p.Asp325Glu) c.1035C>A (p.Asp345Glu) | |
19 | g.18787496_18787507del | CA2695228439 | COMP | c.1123_1134del (p.Ile375_Asp378del) c.964_975del (p.Ile322_Asp325del) c.1024_1035del (p.Ile342_Asp345del) | ClinVar |
19 | g.18787493T>A | CA404887666 | COMP | c.1133A>T (p.Asp378Val) c.974A>T (p.Asp325Val) c.1034A>T (p.Asp345Val) | |
19 | g.18787493T>C | CA404887667 | COMP | c.1133A>G (p.Asp378Gly) c.974A>G (p.Asp325Gly) c.1034A>G (p.Asp345Gly) | |
19 | g.18787493T>G | CA404887669 | COMP | c.1133A>C (p.Asp378Ala) c.974A>C (p.Asp325Ala) c.1034A>C (p.Asp345Ala) | |
19 | g.18787494C>A | CA404887674 | COMP | c.1132G>T (p.Asp378Tyr) c.973G>T (p.Asp325Tyr) c.1033G>T (p.Asp345Tyr) | gnomAD v4 |
19 | g.18787494C>G | CA404887679 | COMP | c.1132G>C (p.Asp378His) c.973G>C (p.Asp325His) c.1033G>C (p.Asp345His) | |
19 | g.18787494C>T | CA404887681 | COMP | c.1132G>A (p.Asp378Asn) c.973G>A (p.Asp325Asn) c.1033G>A (p.Asp345Asn) | ClinVar dbSNP |
19 | g.18787495G>A | CA506053052 | COMP | c.1131C>T (p.Gly377=) c.972C>T (p.Gly324=) c.1032C>T (p.Gly344=) | gnomAD v4 |
19 | g.18787495G>C | CA9316537 | COMP | c.1131C>G (p.Gly377=) c.972C>G (p.Gly324=) c.1032C>G (p.Gly344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787495G= | CA2326526444 | COMP | c.1131C= (p.Gly377=) c.972C= (p.Gly324=) c.1032C= (p.Gly344=) | |
19 | g.18787495G>T | CA506053053 | COMP | c.1131C>A (p.Gly377=) c.972C>A (p.Gly324=) c.1032C>A (p.Gly344=) | gnomAD v4 |
19 | g.18787496C>A | CA404887694 | COMP | c.1130G>T (p.Gly377Val) c.971G>T (p.Gly324Val) c.1031G>T (p.Gly344Val) | |
19 | g.18787496C= | CA2326526445 | COMP | c.1130G= (p.Gly377=) c.971G= (p.Gly324=) c.1031G= (p.Gly344=) | |
19 | g.18787496C>G | CA404887689 | COMP | c.1130G>C (p.Gly377Ala) c.971G>C (p.Gly324Ala) c.1031G>C (p.Gly344Ala) | |
19 | g.18787496C>T | CA404887687 | COMP | c.1130G>A (p.Gly377Asp) c.971G>A (p.Gly324Asp) c.1031G>A (p.Gly344Asp) | dbSNP |
19 | g.18787497C>A | CA404887698 | COMP | c.1129G>T (p.Gly377Cys) c.970G>T (p.Gly324Cys) c.1030G>T (p.Gly344Cys) | |
19 | g.18787497C= | CA2326526446 | COMP | c.1129G= (p.Gly377=) c.970G= (p.Gly324=) c.1030G= (p.Gly344=) | |
19 | g.18787497C>G | CA404887709 | COMP | c.1129G>C (p.Gly377Arg) c.970G>C (p.Gly324Arg) c.1030G>C (p.Gly344Arg) | |
19 | g.18787497C>T | CA404887706 | COMP | c.1129G>A (p.Gly377Ser) c.970G>A (p.Gly324Ser) c.1030G>A (p.Gly344Ser) | dbSNP gnomAD v2 |
19 | g.18787498G>A | CA506053054 | COMP | c.1128C>T (p.Asp376=) c.969C>T (p.Asp323=) c.1029C>T (p.Asp343=) | |
19 | g.18787498G>C | CA404887712 | COMP | c.1128C>G (p.Asp376Glu) c.969C>G (p.Asp323Glu) c.1029C>G (p.Asp343Glu) | |
19 | g.18787498G>T | CA404887713 | COMP | c.1128C>A (p.Asp376Glu) c.969C>A (p.Asp323Glu) c.1029C>A (p.Asp343Glu) | |
19 | g.18787502_18787507del | CA2580096748 | COMP | c.1123_1128del (p.Ile375_Asp376del) c.964_969del (p.Ile322_Asp323del) c.1024_1029del (p.Ile342_Asp343del) | ClinVar |
19 | g.18787499T>A | CA404887715 | COMP | c.1127A>T (p.Asp376Val) c.968A>T (p.Asp323Val) c.1028A>T (p.Asp343Val) | ClinVar dbSNP |
19 | g.18787499T>C | CA404887716 | COMP | c.1127A>G (p.Asp376Gly) c.968A>G (p.Asp323Gly) c.1028A>G (p.Asp343Gly) | ClinVar |
19 | g.18787499T>G | CA404887719 | COMP | c.1127A>C (p.Asp376Ala) c.968A>C (p.Asp323Ala) c.1028A>C (p.Asp343Ala) | |
19 | g.18787500C>A | CA404887723 | COMP | c.1126G>T (p.Asp376Tyr) c.967G>T (p.Asp323Tyr) c.1027G>T (p.Asp343Tyr) | ClinVar dbSNP |
19 | g.18787500C= | CA2326526447 | COMP | c.1126G= (p.Asp376=) c.967G= (p.Asp323=) c.1027G= (p.Asp343=) | |
19 | g.18787500C>G | CA404887729 | COMP | c.1126G>C (p.Asp376His) c.967G>C (p.Asp323His) c.1027G>C (p.Asp343His) | ClinVar dbSNP |
19 | g.18787500C>T | CA404887730 | COMP | c.1126G>A (p.Asp376Asn) c.967G>A (p.Asp323Asn) c.1027G>A (p.Asp343Asn) | ClinVar dbSNP |
19 | g.18787501G>A | CA506053055 | COMP | c.1125C>T (p.Ile375=) c.966C>T (p.Ile322=) c.1026C>T (p.Ile342=) | |
19 | g.18787501G>C | CA404887731 | COMP | c.1125C>G (p.Ile375Met) c.966C>G (p.Ile322Met) c.1026C>G (p.Ile342Met) | |
19 | g.18787501G= | CA2326526449 | COMP | c.1125C= (p.Ile375=) c.966C= (p.Ile322=) c.1026C= (p.Ile342=) | |
19 | g.18787501G>T | CA306256506 | COMP | c.1125C>A (p.Ile375=) c.966C>A (p.Ile322=) c.1026C>A (p.Ile342=) | dbSNP |
19 | g.18787502A= | CA2326526450 | COMP | c.1124T= (p.Ile375=) c.965T= (p.Ile322=) c.1025T= (p.Ile342=) | |
19 | g.18787502A>C | CA404887733 | COMP | c.1124T>G (p.Ile375Ser) c.965T>G (p.Ile322Ser) c.1025T>G (p.Ile342Ser) | |
19 | g.18787502A>G | CA404887735 | COMP | c.1124T>C (p.Ile375Thr) c.965T>C (p.Ile322Thr) c.1025T>C (p.Ile342Thr) | ClinVar |
19 | g.18787502A>T | CA404887736 | COMP | c.1124T>A (p.Ile375Asn) c.965T>A (p.Ile322Asn) c.1025T>A (p.Ile342Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787503T>A | CA404887740 | COMP | c.1123A>T (p.Ile375Phe) c.964A>T (p.Ile322Phe) c.1024A>T (p.Ile342Phe) | |
19 | g.18787503T>C | CA404887746 | COMP | c.1123A>G (p.Ile375Val) c.964A>G (p.Ile322Val) c.1024A>G (p.Ile342Val) | gnomAD v4 |
19 | g.18787503T>G | CA404887744 | COMP | c.1123A>C (p.Ile375Leu) c.964A>C (p.Ile322Leu) c.1024A>C (p.Ile342Leu) | |
19 | g.18787503T= | CA2326526453 | COMP | c.1123A= (p.Ile375=) c.964A= (p.Ile322=) c.1024A= (p.Ile342=) | |
19 | g.18787504G>A | CA506053056 | COMP | c.1122C>T (p.Asp374=) c.963C>T (p.Asp321=) c.1023C>T (p.Asp341=) | gnomAD v4 |
19 | g.18787504G>C | CA404887748 | COMP | c.1122C>G (p.Asp374Glu) c.963C>G (p.Asp321Glu) c.1023C>G (p.Asp341Glu) | |
19 | g.18787504G>T | CA404887750 | COMP | c.1122C>A (p.Asp374Glu) c.963C>A (p.Asp321Glu) c.1023C>A (p.Asp341Glu) | |
19 | g.18787511_18787513dup | CA632375736 | COMP | c.1120_1122dup (p.Asp374_Ile375insAsp) c.961_963dup (p.Asp321_Ile322insAsp) c.1021_1023dup (p.Asp341_Ile342insAsp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787511_18787513del | CA2580613096 | COMP | c.1120_1122del (p.Asp374del) c.961_963del (p.Asp321del) c.1021_1023del (p.Asp341del) | ClinVar dbSNP |
19 | g.18787508_18787513del | CA2695228440 | COMP | c.1117_1122del (p.Asp373_Asp374del) c.958_963del (p.Asp320_Asp321del) c.1018_1023del (p.Asp340_Asp341del) | |
19 | g.18787505T>A | CA404887753 | COMP | c.1121A>T (p.Asp374Val) c.962A>T (p.Asp321Val) c.1022A>T (p.Asp341Val) | |
19 | g.18787505T>C | CA404887755 | COMP | c.1121A>G (p.Asp374Gly) c.962A>G (p.Asp321Gly) c.1022A>G (p.Asp341Gly) | |
19 | g.18787505T>G | CA404887765 | COMP | c.1121A>C (p.Asp374Ala) c.962A>C (p.Asp321Ala) c.1022A>C (p.Asp341Ala) | |
19 | g.18787506C>A | CA404887768 | COMP | c.1120G>T (p.Asp374Tyr) c.961G>T (p.Asp321Tyr) c.1021G>T (p.Asp341Tyr) | |
19 | g.18787506C>G | CA404887770 | COMP | c.1120G>C (p.Asp374His) c.961G>C (p.Asp321His) c.1021G>C (p.Asp341His) | |
19 | g.18787506C>T | CA404887773 | COMP | c.1120G>A (p.Asp374Asn) c.961G>A (p.Asp321Asn) c.1021G>A (p.Asp341Asn) | |
19 | g.18787507G>A | CA306256507 | COMP | c.1119C>T (p.Asp373=) c.960C>T (p.Asp320=) c.1020C>T (p.Asp340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18787507G>C | CA404887776 | COMP | c.1119C>G (p.Asp373Glu) c.960C>G (p.Asp320Glu) c.1020C>G (p.Asp340Glu) | gnomAD v4 |
19 | g.18787507G= | CA2326526457 | COMP | c.1119C= (p.Asp373=) c.960C= (p.Asp320=) c.1020C= (p.Asp340=) | |
19 | g.18787507G>T | CA404887780 | COMP | c.1119C>A (p.Asp373Glu) c.960C>A (p.Asp320Glu) c.1020C>A (p.Asp340Glu) | gnomAD v4 |
19 | g.18787508T>A | CA404887788 | COMP | c.1118A>T (p.Asp373Val) c.959A>T (p.Asp320Val) c.1019A>T (p.Asp340Val) | |
19 | g.18787508T>C | CA9316538 | COMP | c.1118A>G (p.Asp373Gly) c.959A>G (p.Asp320Gly) c.1019A>G (p.Asp340Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787508T>G | CA404887785 | COMP | c.1118A>C (p.Asp373Ala) c.959A>C (p.Asp320Ala) c.1019A>C (p.Asp340Ala) | |
19 | g.18787508T= | CA2326526458 | COMP | c.1118A= (p.Asp373=) c.959A= (p.Asp320=) c.1019A= (p.Asp340=) | |
19 | g.18787509C>A | CA404887795 | COMP | c.1117G>T (p.Asp373Tyr) c.958G>T (p.Asp320Tyr) c.1018G>T (p.Asp340Tyr) | |
19 | g.18787509C= | CA2326526459 | COMP | c.1117G= (p.Asp373=) c.958G= (p.Asp320=) c.1018G= (p.Asp340=) | |
19 | g.18787509C>G | CA404887801 | COMP | c.1117G>C (p.Asp373His) c.958G>C (p.Asp320His) c.1018G>C (p.Asp340His) | |
19 | g.18787509C>T | CA9316539 | COMP | c.1117G>A (p.Asp373Asn) c.958G>A (p.Asp320Asn) c.1018G>A (p.Asp340Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18787510G>A | CA506053057 | COMP | c.1116C>T (p.Asp372=) c.957C>T (p.Asp319=) c.1017C>T (p.Asp339=) | |
19 | g.18787510G>C | CA404887805 | COMP | c.1116C>G (p.Asp372Glu) c.957C>G (p.Asp319Glu) c.1017C>G (p.Asp339Glu) | |
19 | g.18787510G>T | CA404887806 | COMP | c.1116C>A (p.Asp372Glu) c.957C>A (p.Asp319Glu) c.1017C>A (p.Asp339Glu) | |
19 | g.18787511T>A | CA404887808 | COMP | c.1115A>T (p.Asp372Val) c.956A>T (p.Asp319Val) c.1016A>T (p.Asp339Val) | |
19 | g.18787511T>C | CA404887811 | COMP | c.1115A>G (p.Asp372Gly) c.956A>G (p.Asp319Gly) c.1016A>G (p.Asp339Gly) | |
19 | g.18787511T>G | CA404887813 | COMP | c.1115A>C (p.Asp372Ala) c.956A>C (p.Asp319Ala) c.1016A>C (p.Asp339Ala) | |
19 | g.18787512C>A | CA404887817 | COMP | c.1114G>T (p.Asp372Tyr) c.955G>T (p.Asp319Tyr) c.1015G>T (p.Asp339Tyr) | |
19 | g.18787512C>G | CA404887819 | COMP | c.1114G>C (p.Asp372His) c.955G>C (p.Asp319His) c.1015G>C (p.Asp339His) | |
19 | g.18787512C>T | CA404887822 | COMP | c.1114G>A (p.Asp372Asn) c.955G>A (p.Asp319Asn) c.1015G>A (p.Asp339Asn) | |
19 | g.18787513G>A | CA506053058 | COMP | c.1113C>T (p.Cys371=) c.954C>T (p.Cys318=) c.1014C>T (p.Cys338=) | |
19 | g.18787513G>C | CA404887831 | COMP | c.1113C>G (p.Cys371Trp) c.954C>G (p.Cys318Trp) c.1014C>G (p.Cys338Trp) | ClinVar dbSNP |
19 | g.18787513G>T | CA404887833 | COMP | c.1113C>A (p.Cys371Ter) c.954C>A (p.Cys318Ter) c.1014C>A (p.Cys338Ter) | gnomAD v4 |
19 | g.18787514C>A | CA404887842 | COMP | c.1112G>T (p.Cys371Phe) c.953G>T (p.Cys318Phe) c.1013G>T (p.Cys338Phe) | |
19 | g.18787514C= | CA2326526460 | COMP | c.1112G= (p.Cys371=) c.953G= (p.Cys318=) c.1013G= (p.Cys338=) | |
19 | g.18787514C>G | CA404887840 | COMP | c.1112G>C (p.Cys371Ser) c.953G>C (p.Cys318Ser) c.1013G>C (p.Cys338Ser) | |
19 | g.18787514C>T | CA16607768 | COMP | c.1112G>A (p.Cys371Tyr) c.953G>A (p.Cys318Tyr) c.1013G>A (p.Cys338Tyr) | ClinVar dbSNP |
19 | g.18787515A>C | CA404887846 | COMP | c.1111T>G (p.Cys371Gly) c.952T>G (p.Cys318Gly) c.1012T>G (p.Cys338Gly) | |
19 | g.18787515A>G | CA404887847 | COMP | c.1111T>C (p.Cys371Arg) c.952T>C (p.Cys318Arg) c.1012T>C (p.Cys338Arg) | ClinVar dbSNP |
19 | g.18787515A>T | CA404887848 | COMP | c.1111T>A (p.Cys371Ser) c.952T>A (p.Cys318Ser) c.1012T>A (p.Cys338Ser) | gnomAD v4 |
19 | g.18787516C>A | CA506053059 | COMP | c.1110G>T (p.Ala370=) c.951G>T (p.Ala317=) c.1011G>T (p.Ala337=) | |
19 | g.18787516C= | CA2326526461 | COMP | c.1110G= (p.Ala370=) c.951G= (p.Ala317=) c.1011G= (p.Ala337=) | |
19 | g.18787516C>G | CA9316541 | COMP | c.1110G>C (p.Ala370=) c.951G>C (p.Ala317=) c.1011G>C (p.Ala337=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18787516C>T | CA9316540 | COMP | c.1110G>A (p.Ala370=) c.951G>A (p.Ala317=) c.1011G>A (p.Ala337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787517G>A | CA9316542 | COMP | c.1109C>T (p.Ala370Val) c.950C>T (p.Ala317Val) c.1010C>T (p.Ala337Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18787517G>C | CA404887858 | COMP | c.1109C>G (p.Ala370Gly) c.950C>G (p.Ala317Gly) c.1010C>G (p.Ala337Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787517G= | CA2326526462 | COMP | c.1109C= (p.Ala370=) c.950C= (p.Ala317=) c.1010C= (p.Ala337=) | |
19 | g.18787517G>T | CA404887860 | COMP | c.1109C>A (p.Ala370Glu) c.950C>A (p.Ala317Glu) c.1010C>A (p.Ala337Glu) | dbSNP gnomAD v4 |
19 | g.18787518C>A | CA404887866 | COMP | c.1108G>T (p.Ala370Ser) c.949G>T (p.Ala317Ser) c.1009G>T (p.Ala337Ser) | |
19 | g.18787518C>G | CA404887869 | COMP | c.1108G>C (p.Ala370Pro) c.949G>C (p.Ala317Pro) c.1009G>C (p.Ala337Pro) | |
19 | g.18787518C>T | CA404887878 | COMP | c.1108G>A (p.Ala370Thr) c.949G>A (p.Ala317Thr) c.1009G>A (p.Ala337Thr) | |
19 | g.18787519A>C | CA404887882 | COMP | c.1107T>G (p.Asp369Glu) c.948T>G (p.Asp316Glu) c.1008T>G (p.Asp336Glu) | |
19 | g.18787519A>G | CA506053060 | COMP | c.1107T>C (p.Asp369=) c.948T>C (p.Asp316=) c.1008T>C (p.Asp336=) | |
19 | g.18787519A>T | CA404887883 | COMP | c.1107T>A (p.Asp369Glu) c.948T>A (p.Asp316Glu) c.1008T>A (p.Asp336Glu) | |
19 | g.18787520T>A | CA404887890 | COMP | c.1106A>T (p.Asp369Val) c.947A>T (p.Asp316Val) c.1007A>T (p.Asp336Val) | |
19 | g.18787520T>C | CA404887896 | COMP | c.1106A>G (p.Asp369Gly) c.947A>G (p.Asp316Gly) c.1007A>G (p.Asp336Gly) | |
19 | g.18787520T>G | CA404887892 | COMP | c.1106A>C (p.Asp369Ala) c.947A>C (p.Asp316Ala) c.1007A>C (p.Asp336Ala) | |
19 | g.18787521C>A | CA404887909 | COMP | c.1105G>T (p.Asp369Tyr) c.946G>T (p.Asp316Tyr) c.1006G>T (p.Asp336Tyr) | |
19 | g.18787521C= | CA2326526463 | COMP | c.1105G= (p.Asp369=) c.946G= (p.Asp316=) c.1006G= (p.Asp336=) | |
19 | g.18787521C>G | CA404887914 | COMP | c.1105G>C (p.Asp369His) c.946G>C (p.Asp316His) c.1006G>C (p.Asp336His) | dbSNP |
19 | g.18787521C>T | CA404887911 | COMP | c.1105G>A (p.Asp369Asn) c.946G>A (p.Asp316Asn) c.1006G>A (p.Asp336Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787522G>A | CA506053061 | COMP | c.1104C>T (p.Gly368=) c.945C>T (p.Gly315=) c.1005C>T (p.Gly335=) | ClinVar dbSNP COSMIC |
19 | g.18787522G>C | CA506053063 | COMP | c.1104C>G (p.Gly368=) c.945C>G (p.Gly315=) c.1005C>G (p.Gly335=) | |
19 | g.18787522G= | CA2326526464 | COMP | c.1104C= (p.Gly368=) c.945C= (p.Gly315=) c.1005C= (p.Gly335=) | |
19 | g.18787522G>T | CA506053062 | COMP | c.1104C>A (p.Gly368=) c.945C>A (p.Gly315=) c.1005C>A (p.Gly335=) | ClinVar gnomAD v4 |
19 | g.18787525_18787530del | CA2573156202 | COMP | c.1099_1104del (p.Arg367_Gly368del) c.940_945del (p.Arg314_Gly315del) c.1000_1005del (p.Arg334_Gly335del) | ClinVar dbSNP |
19 | g.18787523C>A | CA404887918 | COMP | c.1103G>T (p.Gly368Val) c.944G>T (p.Gly315Val) c.1004G>T (p.Gly335Val) | |
19 | g.18787523C>G | CA404887927 | COMP | c.1103G>C (p.Gly368Ala) c.944G>C (p.Gly315Ala) c.1004G>C (p.Gly335Ala) | |
19 | g.18787523C>T | CA404887930 | COMP | c.1103G>A (p.Gly368Asp) c.944G>A (p.Gly315Asp) c.1004G>A (p.Gly335Asp) | gnomAD v4 |
19 | g.18787524C>A | CA404887933 | COMP | c.1102G>T (p.Gly368Cys) c.943G>T (p.Gly315Cys) c.1003G>T (p.Gly335Cys) | |
19 | g.18787524C= | CA2326526465 | COMP | c.1102G= (p.Gly368=) c.943G= (p.Gly315=) c.1003G= (p.Gly335=) | |
19 | g.18787524C>G | CA404887936 | COMP | c.1102G>C (p.Gly368Arg) c.943G>C (p.Gly315Arg) c.1003G>C (p.Gly335Arg) | |
19 | g.18787524C>T | CA9316543 | COMP | c.1102G>A (p.Gly368Ser) c.943G>A (p.Gly315Ser) c.1003G>A (p.Gly335Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787525C>A | CA506053064 | COMP | c.1101G>T (p.Arg367=) c.942G>T (p.Arg314=) c.1002G>T (p.Arg334=) | |
19 | g.18787525C>G | CA506053065 | COMP | c.1101G>C (p.Arg367=) c.942G>C (p.Arg314=) c.1002G>C (p.Arg334=) | |
19 | g.18787525C>T | CA506053066 | COMP | c.1101G>A (p.Arg367=) c.942G>A (p.Arg314=) c.1002G>A (p.Arg334=) | |
19 | g.18787526C>A | CA404887948 | COMP | c.1100G>T (p.Arg367Leu) c.941G>T (p.Arg314Leu) c.1001G>T (p.Arg334Leu) | gnomAD v4 |
19 | g.18787526C= | CA2326526466 | COMP | c.1100G= (p.Arg367=) c.941G= (p.Arg314=) c.1001G= (p.Arg334=) | |
19 | g.18787526C>G | CA404887945 | COMP | c.1100G>C (p.Arg367Pro) c.941G>C (p.Arg314Pro) c.1001G>C (p.Arg334Pro) | gnomAD v4 |
19 | g.18787526C>T | CA9316544 | COMP | c.1100G>A (p.Arg367Gln) c.941G>A (p.Arg314Gln) c.1001G>A (p.Arg334Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787527G>A | CA9316545 | COMP | c.1099C>T (p.Arg367Trp) c.940C>T (p.Arg314Trp) c.1000C>T (p.Arg334Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18787527G>C | CA404887953 | COMP | c.1099C>G (p.Arg367Gly) c.940C>G (p.Arg314Gly) c.1000C>G (p.Arg334Gly) | |
19 | g.18787527G= | CA2326526467 | COMP | c.1099C= (p.Arg367=) c.940C= (p.Arg314=) c.1000C= (p.Arg334=) | |
19 | g.18787527G>T | CA506053067 | COMP | c.1099C>A (p.Arg367=) c.940C>A (p.Arg314=) c.1000C>A (p.Arg334=) | |
19 | g.18787528G>A | CA9316546 | COMP | c.1098C>T (p.Gly366=) c.939C>T (p.Gly313=) c.999C>T (p.Gly333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787528G>C | CA506053068 | COMP | c.1098C>G (p.Gly366=) c.939C>G (p.Gly313=) c.999C>G (p.Gly333=) | |
19 | g.18787528G= | CA2326526468 | COMP | c.1098C= (p.Gly366=) c.939C= (p.Gly313=) c.999C= (p.Gly333=) | |
19 | g.18787528G>T | CA506053069 | COMP | c.1098C>A (p.Gly366=) c.939C>A (p.Gly313=) c.999C>A (p.Gly333=) | |
19 | g.18787529C>A | CA404887967 | COMP | c.1097G>T (p.Gly366Val) c.938G>T (p.Gly313Val) c.998G>T (p.Gly333Val) | |
19 | g.18787529C>G | CA404887970 | COMP | c.1097G>C (p.Gly366Ala) c.938G>C (p.Gly313Ala) c.998G>C (p.Gly333Ala) | |
19 | g.18787529C>T | CA404887972 | COMP | c.1097G>A (p.Gly366Asp) c.938G>A (p.Gly313Asp) c.998G>A (p.Gly333Asp) | ClinVar gnomAD v4 |
19 | g.18787529_18787530insACGCAT | CA2573156203 | COMP | c.1096_1097insATGCGT (p.Gly366delinsAspAlaCys) c.937_938insATGCGT (p.Gly313delinsAspAlaCys) c.997_998insATGCGT (p.Gly333delinsAspAlaCys) | ClinVar dbSNP |
19 | g.18787530C>A | CA404887979 | COMP | c.1096G>T (p.Gly366Cys) c.937G>T (p.Gly313Cys) c.997G>T (p.Gly333Cys) | |
19 | g.18787530C= | CA2326526469 | COMP | c.1096G= (p.Gly366=) c.937G= (p.Gly313=) c.997G= (p.Gly333=) | |
19 | g.18787530C>G | CA404887976 | COMP | c.1096G>C (p.Gly366Arg) c.937G>C (p.Gly313Arg) c.997G>C (p.Gly333Arg) | dbSNP gnomAD v4 |
19 | g.18787530C>T | CA404887978 | COMP | c.1096G>A (p.Gly366Ser) c.937G>A (p.Gly313Ser) c.997G>A (p.Gly333Ser) | |
19 | g.18787531G>A | CA506053070 | COMP | c.1095C>T (p.Asp365=) c.936C>T (p.Asp312=) c.996C>T (p.Asp332=) | dbSNP gnomAD v4 |
19 | g.18787531G>C | CA404887984 | COMP | c.1095C>G (p.Asp365Glu) c.936C>G (p.Asp312Glu) c.996C>G (p.Asp332Glu) | |
19 | g.18787531G= | CA2326526470 | COMP | c.1095C= (p.Asp365=) c.936C= (p.Asp312=) c.996C= (p.Asp332=) | |
19 | g.18787531G>T | CA404887986 | COMP | c.1095C>A (p.Asp365Glu) c.936C>A (p.Asp312Glu) c.996C>A (p.Asp332Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787532T>A | CA404887987 | COMP | c.1094A>T (p.Asp365Val) c.935A>T (p.Asp312Val) c.995A>T (p.Asp332Val) | |
19 | g.18787532T>C | CA404887988 | COMP | c.1094A>G (p.Asp365Gly) c.935A>G (p.Asp312Gly) c.995A>G (p.Asp332Gly) | gnomAD v4 |
19 | g.18787532T>G | CA404887990 | COMP | c.1094A>C (p.Asp365Ala) c.935A>C (p.Asp312Ala) c.995A>C (p.Asp332Ala) | |
19 | g.18787533C>A | CA404887995 | COMP | c.1093G>T (p.Asp365Tyr) c.934G>T (p.Asp312Tyr) c.994G>T (p.Asp332Tyr) | |
19 | g.18787533C= | CA2326526471 | COMP | c.1093G= (p.Asp365=) c.934G= (p.Asp312=) c.994G= (p.Asp332=) | |
19 | g.18787533C>G | CA404887998 | COMP | c.1093G>C (p.Asp365His) c.934G>C (p.Asp312His) c.994G>C (p.Asp332His) | |
19 | g.18787533C>T | CA306256559 | COMP | c.1093G>A (p.Asp365Asn) c.934G>A (p.Asp312Asn) c.994G>A (p.Asp332Asn) | dbSNP gnomAD v4 |
19 | g.18787534C>A | CA404888004 | COMP | c.1092G>T (p.Gln364His) c.933G>T (p.Gln311His) c.993G>T (p.Gln331His) | |
19 | g.18787534C= | CA2326526472 | COMP | c.1092G= (p.Gln364=) c.933G= (p.Gln311=) c.993G= (p.Gln331=) | |
19 | g.18787534C>G | CA404888007 | COMP | c.1092G>C (p.Gln364His) c.933G>C (p.Gln311His) c.993G>C (p.Gln331His) | |
19 | g.18787534C>T | CA506053071 | COMP | c.1092G>A (p.Gln364=) c.933G>A (p.Gln311=) c.993G>A (p.Gln331=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787535T>A | CA404888010 | COMP | c.1091A>T (p.Gln364Leu) c.932A>T (p.Gln311Leu) c.992A>T (p.Gln331Leu) | |
19 | g.18787535T>C | CA404888011 | COMP | c.1091A>G (p.Gln364Arg) c.932A>G (p.Gln311Arg) c.992A>G (p.Gln331Arg) | |
19 | g.18787535T>G | CA404888012 | COMP | c.1091A>C (p.Gln364Pro) c.932A>C (p.Gln311Pro) c.992A>C (p.Gln331Pro) | |
19 | g.18787536G>A | CA404888014 | COMP | c.1090C>T (p.Gln364Ter) c.931C>T (p.Gln311Ter) c.991C>T (p.Gln331Ter) | gnomAD v4 |
19 | g.18787536G>C | CA404888018 | COMP | c.1090C>G (p.Gln364Glu) c.931C>G (p.Gln311Glu) c.991C>G (p.Gln331Glu) | |
19 | g.18787536G>T | CA404888016 | COMP | c.1090C>A (p.Gln364Lys) c.931C>A (p.Gln311Lys) c.991C>A (p.Gln331Lys) | |
19 | g.18787537G>A | CA506053072 | COMP | c.1089C>T (p.Asp363=) c.930C>T (p.Asp310=) c.990C>T (p.Asp330=) | |
19 | g.18787537G>C | CA404888024 | COMP | c.1089C>G (p.Asp363Glu) c.930C>G (p.Asp310Glu) c.990C>G (p.Asp330Glu) | |
19 | g.18787537G>T | CA404888027 | COMP | c.1089C>A (p.Asp363Glu) c.930C>A (p.Asp310Glu) c.990C>A (p.Asp330Glu) | |
19 | g.18787538T>A | CA404888029 | COMP | c.1088A>T (p.Asp363Val) c.929A>T (p.Asp310Val) c.989A>T (p.Asp330Val) | |
19 | g.18787538T>C | CA404888032 | COMP | c.1088A>G (p.Asp363Gly) c.929A>G (p.Asp310Gly) c.989A>G (p.Asp330Gly) | |
19 | g.18787538T>G | CA404888034 | COMP | c.1088A>C (p.Asp363Ala) c.929A>C (p.Asp310Ala) c.989A>C (p.Asp330Ala) | |
19 | g.18787539C>A | CA404888038 | COMP | c.1087G>T (p.Asp363Tyr) c.928G>T (p.Asp310Tyr) c.988G>T (p.Asp330Tyr) | |
19 | g.18787539C>G | CA404888039 | COMP | c.1087G>C (p.Asp363His) c.928G>C (p.Asp310His) c.988G>C (p.Asp330His) | |
19 | g.18787539C>T | CA404888042 | COMP | c.1087G>A (p.Asp363Asn) c.928G>A (p.Asp310Asn) c.988G>A (p.Asp330Asn) | COSMIC |
19 | g.18787539_18787541delinsCTG | CA2326526473 | COMP | c.1085_1087delinsCAG (p.Thr362=) c.926_928delinsCAG (p.Thr309=) c.986_988delinsCAG (p.Thr329=) | |
19 | g.18787540T>A | CA506053073 | COMP | c.1086A>T (p.Thr362=) c.927A>T (p.Thr309=) c.987A>T (p.Thr329=) | |
19 | g.18787540T>C | CA506053074 | COMP | c.1086A>G (p.Thr362=) c.927A>G (p.Thr309=) c.987A>G (p.Thr329=) | dbSNP |
19 | g.18787540T>G | CA506053075 | COMP | c.1086A>C (p.Thr362=) c.927A>C (p.Thr309=) c.987A>C (p.Thr329=) | |
19 | g.18787540T= | CA2326526007 | COMP | c.1086A= (p.Thr362=) c.927A= (p.Thr309=) c.987A= (p.Thr329=) | |
19 | g.18787543_18787544del | CA783973147 | COMP | c.1085_1086del (p.Thr362ArgfsTer27) c.926_927del (p.Thr309ArgfsTer27) c.986_987del (p.Thr329ArgfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787541G>A | CA404888043 | COMP | c.1085C>T (p.Thr362Ile) c.926C>T (p.Thr309Ile) c.986C>T (p.Thr329Ile) | |
19 | g.18787541G>C | CA404888044 | COMP | c.1085C>G (p.Thr362Arg) c.926C>G (p.Thr309Arg) c.986C>G (p.Thr329Arg) | |
19 | g.18787541G>T | CA404888046 | COMP | c.1085C>A (p.Thr362Lys) c.926C>A (p.Thr309Lys) c.986C>A (p.Thr329Lys) | |
19 | g.18787542T>A | CA404888048 | COMP | c.1084A>T (p.Thr362Ser) c.925A>T (p.Thr309Ser) c.985A>T (p.Thr329Ser) | |
19 | g.18787542T>C | CA404888049 | COMP | c.1084A>G (p.Thr362Ala) c.925A>G (p.Thr309Ala) c.985A>G (p.Thr329Ala) | dbSNP |
19 | g.18787542T>G | CA404888052 | COMP | c.1084A>C (p.Thr362Pro) c.925A>C (p.Thr309Pro) c.985A>C (p.Thr329Pro) | |
19 | g.18787542T= | CA2326526009 | COMP | c.1084A= (p.Thr362=) c.925A= (p.Thr309=) c.985A= (p.Thr329=) | |
19 | g.18787543G>A | CA506053076 | COMP | c.1083C>T (p.Asp361=) c.924C>T (p.Asp308=) c.984C>T (p.Asp328=) | dbSNP |
19 | g.18787543G>C | CA404888054 | COMP | c.1083C>G (p.Asp361Glu) c.924C>G (p.Asp308Glu) c.984C>G (p.Asp328Glu) | gnomAD v4 |
19 | g.18787543G= | CA2326526010 | COMP | c.1083C= (p.Asp361=) c.924C= (p.Asp308=) c.984C= (p.Asp328=) | |
19 | g.18787543G>T | CA404888056 | COMP | c.1083C>A (p.Asp361Glu) c.924C>A (p.Asp308Glu) c.984C>A (p.Asp328Glu) | |
19 | g.18787544T>A | CA404888058 | COMP | c.1082A>T (p.Asp361Val) c.923A>T (p.Asp308Val) c.983A>T (p.Asp328Val) | |
19 | g.18787544T>C | CA404888060 | COMP | c.1082A>G (p.Asp361Gly) c.923A>G (p.Asp308Gly) c.983A>G (p.Asp328Gly) | |
19 | g.18787544T>G | CA404888061 | COMP | c.1082A>C (p.Asp361Ala) c.923A>C (p.Asp308Ala) c.983A>C (p.Asp328Ala) | |
19 | g.18787545C>A | CA404888064 | COMP | c.1081G>T (p.Asp361Tyr) c.922G>T (p.Asp308Tyr) c.982G>T (p.Asp328Tyr) | gnomAD v4 |
19 | g.18787545C>G | CA404888066 | COMP | c.1081G>C (p.Asp361His) c.922G>C (p.Asp308His) c.982G>C (p.Asp328His) | |
19 | g.18787545C>T | CA404888081 | COMP | c.1081G>A (p.Asp361Asn) c.922G>A (p.Asp308Asn) c.982G>A (p.Asp328Asn) | COSMIC |
19 | g.18787546del | CA2583622630 | COMP | c.1081del (p.Asp361ThrfsTer?) c.922del (p.Asp308ThrfsTer?) c.982del (p.Asp328ThrfsTer?) | gnomAD v4 |
19 | g.18787546C>A | CA404888082 | COMP | c.1080G>T (p.Lys360Asn) c.921G>T (p.Lys307Asn) c.981G>T (p.Lys327Asn) | |
19 | g.18787546C= | CA2326526011 | COMP | c.1080G= (p.Lys360=) c.921G= (p.Lys307=) c.981G= (p.Lys327=) | |
19 | g.18787546C>G | CA404888084 | COMP | c.1080G>C (p.Lys360Asn) c.921G>C (p.Lys307Asn) c.981G>C (p.Lys327Asn) | dbSNP |
19 | g.18787546C>T | CA506053077 | COMP | c.1080G>A (p.Lys360=) c.921G>A (p.Lys307=) c.981G>A (p.Lys327=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787547T>A | CA404888087 | COMP | c.1079A>T (p.Lys360Met) c.920A>T (p.Lys307Met) c.980A>T (p.Lys327Met) | gnomAD v4 |
19 | g.18787547T>C | CA404888090 | COMP | c.1079A>G (p.Lys360Arg) c.920A>G (p.Lys307Arg) c.980A>G (p.Lys327Arg) | |
19 | g.18787547T>G | CA404888093 | COMP | c.1079A>C (p.Lys360Thr) c.920A>C (p.Lys307Thr) c.980A>C (p.Lys327Thr) | dbSNP gnomAD v4 |
19 | g.18787547T= | CA2326526012 | COMP | c.1079A= (p.Lys360=) c.920A= (p.Lys307=) c.980A= (p.Lys327=) | |
19 | g.18787550dup | CA2583622631 | COMP | c.1079dup (p.Asp361GlyfsTer29) c.920dup (p.Asp308GlyfsTer29) c.980dup (p.Asp328GlyfsTer29) | gnomAD v4 |
19 | g.18787548T>A | CA404888097 | COMP | c.1078A>T (p.Lys360Ter) c.919A>T (p.Lys307Ter) c.979A>T (p.Lys327Ter) | |
19 | g.18787548T>C | CA404888102 | COMP | c.1078A>G (p.Lys360Glu) c.919A>G (p.Lys307Glu) c.979A>G (p.Lys327Glu) | |
19 | g.18787548T>G | CA404888099 | COMP | c.1078A>C (p.Lys360Gln) c.919A>C (p.Lys307Gln) c.979A>C (p.Lys327Gln) | |
19 | g.18787549T>A | CA404888110 | COMP | c.1077A>T (p.Gln359His) c.918A>T (p.Gln306His) c.978A>T (p.Gln326His) | |
19 | g.18787549T>C | CA506053078 | COMP | c.1077A>G (p.Gln359=) c.918A>G (p.Gln306=) c.978A>G (p.Gln326=) | |
19 | g.18787549T>G | CA404888112 | COMP | c.1077A>C (p.Gln359His) c.918A>C (p.Gln306His) c.978A>C (p.Gln326His) | |
19 | g.18787550T>A | CA404888116 | COMP | c.1076A>T (p.Gln359Leu) c.917A>T (p.Gln306Leu) c.977A>T (p.Gln326Leu) | |
19 | g.18787550T>C | CA404888121 | COMP | c.1076A>G (p.Gln359Arg) c.917A>G (p.Gln306Arg) c.977A>G (p.Gln326Arg) | |
19 | g.18787550T>G | CA404888124 | COMP | c.1076A>C (p.Gln359Pro) c.917A>C (p.Gln306Pro) c.977A>C (p.Gln326Pro) | |
19 | g.18787551G>A | CA404888131 | COMP | c.1075C>T (p.Gln359Ter) c.916C>T (p.Gln306Ter) c.976C>T (p.Gln326Ter) | |
19 | g.18787551G>C | CA404888137 | COMP | c.1075C>G (p.Gln359Glu) c.916C>G (p.Gln306Glu) c.976C>G (p.Gln326Glu) | |
19 | g.18787551G>T | CA404888140 | COMP | c.1075C>A (p.Gln359Lys) c.916C>A (p.Gln306Lys) c.976C>A (p.Gln326Lys) | |
19 | g.18787552G>A | CA506053079 | COMP | c.1074C>T (p.Asp358=) c.915C>T (p.Asp305=) c.975C>T (p.Asp325=) | |
19 | g.18787552G>C | CA404888145 | COMP | c.1074C>G (p.Asp358Glu) c.915C>G (p.Asp305Glu) c.975C>G (p.Asp325Glu) | |
19 | g.18787552G>T | CA404888148 | COMP | c.1074C>A (p.Asp358Glu) c.915C>A (p.Asp305Glu) c.975C>A (p.Asp325Glu) | gnomAD v4 |
19 | g.18787553T>A | CA404888152 | COMP | c.1073A>T (p.Asp358Val) c.914A>T (p.Asp305Val) c.974A>T (p.Asp325Val) | |
19 | g.18787553T>C | CA404888154 | COMP | c.1073A>G (p.Asp358Gly) c.914A>G (p.Asp305Gly) c.974A>G (p.Asp325Gly) | |
19 | g.18787553T>G | CA404888157 | COMP | c.1073A>C (p.Asp358Ala) c.914A>C (p.Asp305Ala) c.974A>C (p.Asp325Ala) | |
19 | g.18787554C>A | CA404888162 | COMP | c.1072G>T (p.Asp358Tyr) c.913G>T (p.Asp305Tyr) c.973G>T (p.Asp325Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.18787554C= | CA2326526014 | COMP | c.1072G= (p.Asp358=) c.913G= (p.Asp305=) c.973G= (p.Asp325=) | |
19 | g.18787554C>G | CA9316547 | COMP | c.1072G>C (p.Asp358His) c.913G>C (p.Asp305His) c.973G>C (p.Asp325His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787554C>T | CA404888158 | COMP | c.1072G>A (p.Asp358Asn) c.913G>A (p.Asp305Asn) c.973G>A (p.Asp325Asn) | |
19 | g.18787555G>A | CA506053081 | COMP | c.1071C>T (p.Asp357=) c.912C>T (p.Asp304=) c.972C>T (p.Asp324=) | gnomAD v4 |
19 | g.18787555G>C | CA404888164 | COMP | c.1071C>G (p.Asp357Glu) c.912C>G (p.Asp304Glu) c.972C>G (p.Asp324Glu) | |
19 | g.18787555G= | CA2326526016 | COMP | c.1071C= (p.Asp357=) c.912C= (p.Asp304=) c.972C= (p.Asp324=) | |
19 | g.18787555G>T | CA404888167 | COMP | c.1071C>A (p.Asp357Glu) c.912C>A (p.Asp304Glu) c.972C>A (p.Asp324Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787556T>A | CA404888170 | COMP | c.1070A>T (p.Asp357Val) c.911A>T (p.Asp304Val) c.971A>T (p.Asp324Val) | |
19 | g.18787556T>C | CA404888173 | COMP | c.1070A>G (p.Asp357Gly) c.911A>G (p.Asp304Gly) c.971A>G (p.Asp324Gly) | |
19 | g.18787556T>G | CA404888174 | COMP | c.1070A>C (p.Asp357Ala) c.911A>C (p.Asp304Ala) c.971A>C (p.Asp324Ala) | |
19 | g.18787556_18787557delinsAA | CA2697556420 | COMP | c.1069_1070delinsTT (p.Asp357Phe) c.910_911delinsTT (p.Asp304Phe) c.970_971delinsTT (p.Asp324Phe) | ClinVar |
19 | g.18787557C>A | CA404888175 | COMP | c.1069G>T (p.Asp357Tyr) c.910G>T (p.Asp304Tyr) c.970G>T (p.Asp324Tyr) | |
19 | g.18787557C= | CA2326526019 | COMP | c.1069G= (p.Asp357=) c.910G= (p.Asp304=) c.970G= (p.Asp324=) | |
19 | g.18787557C>G | CA404888177 | COMP | c.1069G>C (p.Asp357His) c.910G>C (p.Asp304His) c.970G>C (p.Asp324His) | |
19 | g.18787557C>T | CA404888179 | COMP | c.1069G>A (p.Asp357Asn) c.910G>A (p.Asp304Asn) c.970G>A (p.Asp324Asn) | dbSNP |
19 | g.18787558G>A | CA506053082 | COMP | c.1068C>T (p.Asn356=) c.909C>T (p.Asn303=) c.969C>T (p.Asn323=) | dbSNP gnomAD v4 |
19 | g.18787558G>C | CA404888181 | COMP | c.1068C>G (p.Asn356Lys) c.909C>G (p.Asn303Lys) c.969C>G (p.Asn323Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.18787558G= | CA2326526027 | COMP | c.1068C= (p.Asn356=) c.909C= (p.Asn303=) c.969C= (p.Asn323=) | |
19 | g.18787558G>T | CA404888184 | COMP | c.1068C>A (p.Asn356Lys) c.909C>A (p.Asn303Lys) c.969C>A (p.Asn323Lys) | dbSNP COSMIC |
19 | g.18787559T>A | CA404888190 | COMP | c.1067A>T (p.Asn356Ile) c.908A>T (p.Asn303Ile) c.968A>T (p.Asn323Ile) | |
19 | g.18787559T>C | CA9316548 | COMP | c.1067A>G (p.Asn356Ser) c.908A>G (p.Asn303Ser) c.968A>G (p.Asn323Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787559T>G | CA404888192 | COMP | c.1067A>C (p.Asn356Thr) c.908A>C (p.Asn303Thr) c.968A>C (p.Asn323Thr) | |
19 | g.18787559T= | CA2326526029 | COMP | c.1067A= (p.Asn356=) c.908A= (p.Asn303=) c.968A= (p.Asn323=) | |
19 | g.18787560T>A | CA404888203 | COMP | c.1066A>T (p.Asn356Tyr) c.907A>T (p.Asn303Tyr) c.967A>T (p.Asn323Tyr) | |
19 | g.18787560T>C | CA404888206 | COMP | c.1066A>G (p.Asn356Asp) c.907A>G (p.Asn303Asp) c.967A>G (p.Asn323Asp) | |
19 | g.18787560T>G | CA404888195 | COMP | c.1066A>C (p.Asn356His) c.907A>C (p.Asn303His) c.967A>C (p.Asn323His) |