Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154966577T>A | CA414916722 | F8 | c.1120A>T (p.Met374Leu) c.*996A>T (n.*996A>T) c.1015A>T (p.Met339Leu) | |
X | g.154966577T>C | CA414916724 | F8 | c.1120A>G (p.Met374Val) c.*996A>G (n.*996A>G) c.1015A>G (p.Met339Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966577T>G | CA414916727 | F8 | c.1120A>C (p.Met374Leu) c.*996A>C (n.*996A>C) c.1015A>C (p.Met339Leu) | |
X | g.154966579del | CA2695197149 | F8 | c.1120del (p.Met374TrpfsTer?) c.*996del (n.*996del) c.1015del (p.Met339TrpfsTer?) | ClinVar |
X | g.154966578T>A | CA414916730 | F8 | c.1119A>T (p.Glu373Asp) c.*995A>T (n.*995A>T) c.1014A>T (p.Glu338Asp) | |
X | g.154966578T>C | CA519365454 | F8 | c.1119A>G (p.Glu373=) c.*995A>G (n.*995A>G) c.1014A>G (p.Glu338=) | |
X | g.154966578T>G | CA414916732 | F8 | c.1119A>C (p.Glu373Asp) c.*995A>C (n.*995A>C) c.1014A>C (p.Glu338Asp) | |
X | g.154966579T>A | CA414916735 | F8 | c.1118A>T (p.Glu373Val) c.*994A>T (n.*994A>T) c.1013A>T (p.Glu338Val) | |
X | g.154966579T>C | CA414916737 | F8 | c.1118A>G (p.Glu373Gly) c.*994A>G (n.*994A>G) c.1013A>G (p.Glu338Gly) | |
X | g.154966579T>G | CA414916740 | F8 | c.1118A>C (p.Glu373Ala) c.*994A>C (n.*994A>C) c.1013A>C (p.Glu338Ala) | |
X | g.154966580C>A | CA414916742 | F8 | c.1117G>T (p.Glu373Ter) c.*993G>T (n.*993G>T) c.1012G>T (p.Glu338Ter) | |
X | g.154966580C>G | CA414916743 | F8 | c.1117G>C (p.Glu373Gln) c.*993G>C (n.*993G>C) c.1012G>C (p.Glu338Gln) | gnomAD v4 |
X | g.154966580C>T | CA414916745 | F8 | c.1117G>A (p.Glu373Lys) c.*993G>A (n.*993G>A) c.1012G>A (p.Glu338Lys) | |
X | g.154966581A>C | CA519365466 | F8 | c.1116T>G (p.Ser372=) c.*992T>G (n.*992T>G) c.1011T>G (p.Ser337=) | |
X | g.154966581A>G | CA519365470 | F8 | c.1116T>C (p.Ser372=) c.*992T>C (n.*992T>C) c.1011T>C (p.Ser337=) | COSMIC COSMIC |
X | g.154966581A>T | CA519365468 | F8 | c.1116T>A (p.Ser372=) c.*992T>A (n.*992T>A) c.1011T>A (p.Ser337=) | |
X | g.154966582G>A | CA414916747 | F8 | c.1115C>T (p.Ser372Phe) c.*991C>T (n.*991C>T) c.1010C>T (p.Ser337Phe) | COSMIC COSMIC |
X | g.154966582G>C | CA414916749 | F8 | c.1115C>G (p.Ser372Cys) c.*991C>G (n.*991C>G) c.1010C>G (p.Ser337Cys) | |
X | g.154966582G>T | CA414916751 | F8 | c.1115C>A (p.Ser372Tyr) c.*991C>A (n.*991C>A) c.1010C>A (p.Ser337Tyr) | |
X | g.154966583A>C | CA414916757 | F8 | c.1114T>G (p.Ser372Ala) c.*990T>G (n.*990T>G) c.1009T>G (p.Ser337Ala) | |
X | g.154966583A>G | CA414916755 | F8 | c.1114T>C (p.Ser372Pro) c.*990T>C (n.*990T>C) c.1009T>C (p.Ser337Pro) | |
X | g.154966583A>T | CA414916753 | F8 | c.1114T>A (p.Ser372Thr) c.*990T>A (n.*990T>A) c.1009T>A (p.Ser337Thr) | |
X | g.154966584A>C | CA414916760 | F8 | c.1113T>G (p.Asp371Glu) c.*989T>G (n.*989T>G) c.1008T>G (p.Asp336Glu) | |
X | g.154966584A>G | CA519365487 | F8 | c.1113T>C (p.Asp371=) c.*989T>C (n.*989T>C) c.1008T>C (p.Asp336=) | |
X | g.154966584A>T | CA414916761 | F8 | c.1113T>A (p.Asp371Glu) c.*989T>A (n.*989T>A) c.1008T>A (p.Asp336Glu) | |
X | g.154966585T>A | CA414916765 | F8 | c.1112A>T (p.Asp371Val) c.*988A>T (n.*988A>T) c.1007A>T (p.Asp336Val) | |
X | g.154966585T>C | CA414916768 | F8 | c.1112A>G (p.Asp371Gly) c.*988A>G (n.*988A>G) c.1007A>G (p.Asp336Gly) | |
X | g.154966585T>G | CA414916769 | F8 | c.1112A>C (p.Asp371Ala) c.*988A>C (n.*988A>C) c.1007A>C (p.Asp336Ala) | |
X | g.154966586C>A | CA414916772 | F8 | c.1111G>T (p.Asp371Tyr) c.*987G>T (n.*987G>T) c.1006G>T (p.Asp336Tyr) | |
X | g.154966586C= | CA2466848136 | F8 | c.1111G= (p.Asp371=) c.*987G= (n.*987G=) c.1006G= (p.Asp336=) | |
X | g.154966586C>G | CA414916774 | F8 | c.1111G>C (p.Asp371His) c.*987G>C (n.*987G>C) c.1006G>C (p.Asp336His) | |
X | g.154966586C>T | CA10568500 | F8 | c.1111G>A (p.Asp371Asn) c.*987G>A (n.*987G>A) c.1006G>A (p.Asp336Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966587A>C | CA519365497 | F8 | c.1110T>G (p.Thr370=) c.*986T>G (n.*986T>G) c.1005T>G (p.Thr335=) | |
X | g.154966587A>G | CA519365500 | F8 | c.1110T>C (p.Thr370=) c.*986T>C (n.*986T>C) c.1005T>C (p.Thr335=) | |
X | g.154966587A>T | CA519365502 | F8 | c.1110T>A (p.Thr370=) c.*986T>A (n.*986T>A) c.1005T>A (p.Thr335=) | |
X | g.154966588G>A | CA414916778 | F8 | c.1109C>T (p.Thr370Ile) c.*985C>T (n.*985C>T) c.1004C>T (p.Thr335Ile) | |
X | g.154966588G>C | CA414916781 | F8 | c.1109C>G (p.Thr370Ser) c.*985C>G (n.*985C>G) c.1004C>G (p.Thr335Ser) | dbSNP |
X | g.154966588G= | CA2466848137 | F8 | c.1109C= (p.Thr370=) c.*985C= (n.*985C=) c.1004C= (p.Thr335=) | |
X | g.154966588G>T | CA414916782 | F8 | c.1109C>A (p.Thr370Asn) c.*985C>A (n.*985C>A) c.1004C>A (p.Thr335Asn) | |
X | g.154966589T>A | CA414916795 | F8 | c.1108A>T (p.Thr370Ser) c.*984A>T (n.*984A>T) c.1003A>T (p.Thr335Ser) | |
X | g.154966589T>C | CA414916787 | F8 | c.1108A>G (p.Thr370Ala) c.*984A>G (n.*984A>G) c.1003A>G (p.Thr335Ala) | |
X | g.154966589T>G | CA414916785 | F8 | c.1108A>C (p.Thr370Pro) c.*984A>C (n.*984A>C) c.1003A>C (p.Thr335Pro) | |
X | g.154966589dup | CA873344640 | F8 | c.1108dup (p.Thr370AsnfsTer2) c.*984dup (n.*984dup) c.1003dup (p.Thr335AsnfsTer2) | dbSNP |
X | g.154966589_154966590delinsTA | CA2466848138 | F8 | c.1107_1108delinsTA (p.Leu369=) c.*983_*984delinsTA (n.*983_*984delinsTA) c.1002_1003delinsTA (p.Leu334=) | |
X | g.154966590A= | CA2466848139 | F8 | c.1107T= (p.Leu369=) c.*983T= (n.*983T=) c.1002T= (p.Leu334=) | |
X | g.154966590A>C | CA519365515 | F8 | c.1107T>G (p.Leu369=) c.*983T>G (n.*983T>G) c.1002T>G (p.Leu334=) | |
X | g.154966590A>G | CA337336552 | F8 | c.1107T>C (p.Leu369=) c.*983T>C (n.*983T>C) c.1002T>C (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966590A>T | CA519365520 | F8 | c.1107T>A (p.Leu369=) c.*983T>A (n.*983T>A) c.1002T>A (p.Leu334=) | |
X | g.154966591del | CA645292831 | F8 | c.1107del (p.Thr370LeufsTer?) c.*983del (n.*983del) c.1002del (p.Thr335LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966591A>C | CA414916800 | F8 | c.1106T>G (p.Leu369Arg) c.*982T>G (n.*982T>G) c.1001T>G (p.Leu334Arg) | |
X | g.154966591A>G | CA414916801 | F8 | c.1106T>C (p.Leu369Pro) c.*982T>C (n.*982T>C) c.1001T>C (p.Leu334Pro) | |
X | g.154966591A>T | CA414916803 | F8 | c.1106T>A (p.Leu369His) c.*982T>A (n.*982T>A) c.1001T>A (p.Leu334His) | gnomAD v4 |
X | g.154966592G>A | CA414916805 | F8 | c.1105C>T (p.Leu369Phe) c.*981C>T (n.*981C>T) c.1000C>T (p.Leu334Phe) | |
X | g.154966592G>C | CA414916807 | F8 | c.1105C>G (p.Leu369Val) c.*981C>G (n.*981C>G) c.1000C>G (p.Leu334Val) | |
X | g.154966592G>T | CA414916811 | F8 | c.1105C>A (p.Leu369Ile) c.*981C>A (n.*981C>A) c.1000C>A (p.Leu334Ile) | |
X | g.154966592_154966595delinsGATC | CA2466848140 | F8 | c.1102_1105delinsGATC (p.Asp368=) c.*978_*981delinsGATC (n.*978_*981delinsGATC) c.997_1000delinsGATC (p.Asp333=) | |
X | g.154966593A>C | CA414916814 | F8 | c.1104T>G (p.Asp368Glu) c.*980T>G (n.*980T>G) c.999T>G (p.Asp333Glu) | |
X | g.154966593A>G | CA519365533 | F8 | c.1104T>C (p.Asp368=) c.*980T>C (n.*980T>C) c.999T>C (p.Asp333=) | |
X | g.154966593A>T | CA414916815 | F8 | c.1104T>A (p.Asp368Glu) c.*980T>A (n.*980T>A) c.999T>A (p.Asp333Glu) | |
X | g.154966601_154966603dup | CA2695169706 | F8 | c.1102_1104dup (p.Asp368_Leu369insAsp) c.*978_*980dup (n.*978_*980dup) c.997_999dup (p.Asp333_Leu334insAsp) | gnomAD v4 |
X | g.154966601_154966603del | CA873344644 | F8 | c.1102_1104del (p.Asp368del) c.*978_*980del (n.*978_*980del) c.997_999del (p.Asp333del) | dbSNP gnomAD v4 |
X | g.154966594T>A | CA414916818 | F8 | c.1103A>T (p.Asp368Val) c.*979A>T (n.*979A>T) c.998A>T (p.Asp333Val) | COSMIC COSMIC |
X | g.154966594T>C | CA414916820 | F8 | c.1103A>G (p.Asp368Gly) c.*979A>G (n.*979A>G) c.998A>G (p.Asp333Gly) | |
X | g.154966594T>G | CA414916824 | F8 | c.1103A>C (p.Asp368Ala) c.*979A>C (n.*979A>C) c.998A>C (p.Asp333Ala) | |
X | g.154966595C>A | CA414916829 | F8 | c.1102G>T (p.Asp368Tyr) c.*978G>T (n.*978G>T) c.997G>T (p.Asp333Tyr) | |
X | g.154966595C>G | CA414916832 | F8 | c.1102G>C (p.Asp368His) c.*978G>C (n.*978G>C) c.997G>C (p.Asp333His) | |
X | g.154966595C>T | CA414916827 | F8 | c.1102G>A (p.Asp368Asn) c.*978G>A (n.*978G>A) c.997G>A (p.Asp333Asn) | |
X | g.154966596A>C | CA414916836 | F8 | c.1101T>G (p.Asp367Glu) c.*977T>G (n.*977T>G) c.996T>G (p.Asp332Glu) | |
X | g.154966596A>G | CA519365546 | F8 | c.1101T>C (p.Asp367=) c.*977T>C (n.*977T>C) c.996T>C (p.Asp332=) | gnomAD v4 |
X | g.154966596A>T | CA414916837 | F8 | c.1101T>A (p.Asp367Glu) c.*977T>A (n.*977T>A) c.996T>A (p.Asp332Glu) | |
X | g.154966597T>A | CA414916840 | F8 | c.1100A>T (p.Asp367Val) c.*976A>T (n.*976A>T) c.995A>T (p.Asp332Val) | |
X | g.154966597T>C | CA414916842 | F8 | c.1100A>G (p.Asp367Gly) c.*976A>G (n.*976A>G) c.995A>G (p.Asp332Gly) | gnomAD v4 |
X | g.154966597T>G | CA414916845 | F8 | c.1100A>C (p.Asp367Ala) c.*976A>C (n.*976A>C) c.995A>C (p.Asp332Ala) | |
X | g.154966597_154966610del | CA2695237375 | F8 | c.1087_1100del (p.Glu363Ter) c.*963_*976del (n.*963_*976del) c.982_995del (p.Glu328Ter) | |
X | g.154966598C>A | CA414916852 | F8 | c.1099G>T (p.Asp367Tyr) c.*975G>T (n.*975G>T) c.994G>T (p.Asp332Tyr) | |
X | g.154966598C>G | CA414916847 | F8 | c.1099G>C (p.Asp367His) c.*975G>C (n.*975G>C) c.994G>C (p.Asp332His) | |
X | g.154966598C>T | CA414916850 | F8 | c.1099G>A (p.Asp367Asn) c.*975G>A (n.*975G>A) c.994G>A (p.Asp332Asn) | |
X | g.154966599A>C | CA414916855 | F8 | c.1098T>G (p.Asp366Glu) c.*974T>G (n.*974T>G) c.993T>G (p.Asp331Glu) | |
X | g.154966599A>G | CA519365561 | F8 | c.1098T>C (p.Asp366=) c.*974T>C (n.*974T>C) c.993T>C (p.Asp331=) | |
X | g.154966599A>T | CA414916858 | F8 | c.1098T>A (p.Asp366Glu) c.*974T>A (n.*974T>A) c.993T>A (p.Asp331Glu) | |
X | g.154966600T>A | CA414916860 | F8 | c.1097A>T (p.Asp366Val) c.*973A>T (n.*973A>T) c.992A>T (p.Asp331Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966600T>C | CA414916861 | F8 | c.1097A>G (p.Asp366Gly) c.*973A>G (n.*973A>G) c.992A>G (p.Asp331Gly) | |
X | g.154966600T>G | CA414916863 | F8 | c.1097A>C (p.Asp366Ala) c.*973A>C (n.*973A>C) c.992A>C (p.Asp331Ala) | |
X | g.154966600T= | CA2466848141 | F8 | c.1097A= (p.Asp366=) c.*973A= (n.*973A=) c.992A= (p.Asp331=) | |
X | g.154966601C>A | CA414916870 | F8 | c.1096G>T (p.Asp366Tyr) c.*972G>T (n.*972G>T) c.991G>T (p.Asp331Tyr) | |
X | g.154966601C= | CA2466848142 | F8 | c.1096G= (p.Asp366=) c.*972G= (n.*972G=) c.991G= (p.Asp331=) | |
X | g.154966601C>G | CA414916865 | F8 | c.1096G>C (p.Asp366His) c.*972G>C (n.*972G>C) c.991G>C (p.Asp331His) | |
X | g.154966601C>T | CA414916867 | F8 | c.1096G>A (p.Asp366Asn) c.*972G>A (n.*972G>A) c.991G>A (p.Asp331Asn) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966602A>C | CA414916872 | F8 | c.1095T>G (p.Tyr365Ter) c.*971T>G (n.*971T>G) c.990T>G (p.Tyr330Ter) | |
X | g.154966602A>G | CA519365577 | F8 | c.1095T>C (p.Tyr365=) c.*971T>C (n.*971T>C) c.990T>C (p.Tyr330=) | gnomAD v4 |
X | g.154966602A>T | CA414916874 | F8 | c.1095T>A (p.Tyr365Ter) c.*971T>A (n.*971T>A) c.990T>A (p.Tyr330Ter) | |
X | g.154966603T>A | CA414916878 | F8 | c.1094A>T (p.Tyr365Phe) c.*970A>T (n.*970A>T) c.989A>T (p.Tyr330Phe) | |
X | g.154966603T>C | CA10568501 | F8 | c.1094A>G (p.Tyr365Cys) c.*970A>G (n.*970A>G) c.989A>G (p.Tyr330Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154966603T>G | CA414916882 | F8 | c.1094A>C (p.Tyr365Ser) c.*970A>C (n.*970A>C) c.989A>C (p.Tyr330Ser) | |
X | g.154966603T= | CA2466848143 | F8 | c.1094A= (p.Tyr365=) c.*970A= (n.*970A=) c.989A= (p.Tyr330=) | |
X | g.154966604A= | CA2466848144 | F8 | c.1093T= (p.Tyr365=) c.*969T= (n.*969T=) c.988T= (p.Tyr330=) | |
X | g.154966604A>C | CA414916885 | F8 | c.1093T>G (p.Tyr365Asp) c.*969T>G (n.*969T>G) c.988T>G (p.Tyr330Asp) | |
X | g.154966604A>G | CA10568502 | F8 | c.1093T>C (p.Tyr365His) c.*969T>C (n.*969T>C) c.988T>C (p.Tyr330His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966604A>T | CA414916888 | F8 | c.1093T>A (p.Tyr365Asn) c.*969T>A (n.*969T>A) c.988T>A (p.Tyr330Asn) | |
X | g.154966605G>A | CA519365588 | F8 | c.1092C>T (p.Asp364=) c.*968C>T (n.*968C>T) c.987C>T (p.Asp329=) | gnomAD v4 |
X | g.154966605G>C | CA414916891 | F8 | c.1092C>G (p.Asp364Glu) c.*968C>G (n.*968C>G) c.987C>G (p.Asp329Glu) | |
X | g.154966605G>T | CA414916894 | F8 | c.1092C>A (p.Asp364Glu) c.*968C>A (n.*968C>A) c.987C>A (p.Asp329Glu) | |
X | g.154966606T>A | CA414916897 | F8 | c.1091A>T (p.Asp364Val) c.*967A>T (n.*967A>T) c.986A>T (p.Asp329Val) | |
X | g.154966606T>C | CA414916899 | F8 | c.1091A>G (p.Asp364Gly) c.*967A>G (n.*967A>G) c.986A>G (p.Asp329Gly) | |
X | g.154966606T>G | CA414916901 | F8 | c.1091A>C (p.Asp364Ala) c.*967A>C (n.*967A>C) c.986A>C (p.Asp329Ala) | |
X | g.154966607del | CA2695237381 | F8 | c.1090del (p.Asp364ThrfsTer?) c.*966del (n.*966del) c.985del (p.Asp329ThrfsTer?) | |
X | g.154966607C>A | CA414916904 | F8 | c.1090G>T (p.Asp364Tyr) c.*966G>T (n.*966G>T) c.985G>T (p.Asp329Tyr) | COSMIC COSMIC |
X | g.154966607C= | CA2466848145 | F8 | c.1090G= (p.Asp364=) c.*966G= (n.*966G=) c.985G= (p.Asp329=) | |
X | g.154966607C>G | CA414916907 | F8 | c.1090G>C (p.Asp364His) c.*966G>C (n.*966G>C) c.985G>C (p.Asp329His) | COSMIC COSMIC |
X | g.154966607C>T | CA10568503 | F8 | c.1090G>A (p.Asp364Asn) c.*966G>A (n.*966G>A) c.985G>A (p.Asp329Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966608T>A | CA414916908 | F8 | c.1089A>T (p.Glu363Asp) c.*965A>T (n.*965A>T) c.984A>T (p.Glu328Asp) | |
X | g.154966608T>C | CA519365600 | F8 | c.1089A>G (p.Glu363=) c.*965A>G (n.*965A>G) c.984A>G (p.Glu328=) | |
X | g.154966608T>G | CA414916910 | F8 | c.1089A>C (p.Glu363Asp) c.*965A>C (n.*965A>C) c.984A>C (p.Glu328Asp) | |
X | g.154966609T>A | CA414916911 | F8 | c.1088A>T (p.Glu363Val) c.*964A>T (n.*964A>T) c.983A>T (p.Glu328Val) | |
X | g.154966609T>C | CA414916912 | F8 | c.1088A>G (p.Glu363Gly) c.*964A>G (n.*964A>G) c.983A>G (p.Glu328Gly) | |
X | g.154966609T>G | CA414916914 | F8 | c.1088A>C (p.Glu363Ala) c.*964A>C (n.*964A>C) c.983A>C (p.Glu328Ala) | |
X | g.154966610C>A | CA414916916 | F8 | c.1087G>T (p.Glu363Ter) c.*963G>T (n.*963G>T) c.982G>T (p.Glu328Ter) | |
X | g.154966610C>G | CA414916917 | F8 | c.1087G>C (p.Glu363Gln) c.*963G>C (n.*963G>C) c.982G>C (p.Glu328Gln) | COSMIC COSMIC |
X | g.154966610C>T | CA414916920 | F8 | c.1087G>A (p.Glu363Lys) c.*963G>A (n.*963G>A) c.982G>A (p.Glu328Lys) | |
X | g.154966611C>A | CA519365606 | F8 | c.1086G>T (p.Ala362=) c.*962G>T (n.*962G>T) c.981G>T (p.Ala327=) | |
X | g.154966611C= | CA2466848146 | F8 | c.1086G= (p.Ala362=) c.*962G= (n.*962G=) c.981G= (p.Ala327=) | |
X | g.154966611C>G | CA519365609 | F8 | c.1086G>C (p.Ala362=) c.*962G>C (n.*962G>C) c.981G>C (p.Ala327=) | gnomAD v4 |
X | g.154966611C>T | CA10568504 | F8 | c.1086G>A (p.Ala362=) c.*962G>A (n.*962G>A) c.981G>A (p.Ala327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966612G>A | CA10568505 | F8 | c.1085C>T (p.Ala362Val) c.*961C>T (n.*961C>T) c.980C>T (p.Ala327Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966612G>C | CA414916925 | F8 | c.1085C>G (p.Ala362Gly) c.*961C>G (n.*961C>G) c.980C>G (p.Ala327Gly) | |
X | g.154966612G= | CA2466848148 | F8 | c.1085C= (p.Ala362=) c.*961C= (n.*961C=) c.980C= (p.Ala327=) | |
X | g.154966612G>T | CA414916927 | F8 | c.1085C>A (p.Ala362Glu) c.*961C>A (n.*961C>A) c.980C>A (p.Ala327Glu) | |
X | g.154966612_154966615delinsGCTT | CA2466848147 | F8 | c.1082_1085delinsAAGC (p.Glu361=) c.*958_*961delinsAAGC (n.*958_*961delinsAAGC) c.977_980delinsAAGC (p.Glu326=) | |
X | g.154966613C>A | CA414916935 | F8 | c.1084G>T (p.Ala362Ser) c.*960G>T (n.*960G>T) c.979G>T (p.Ala327Ser) | |
X | g.154966613C>G | CA414916930 | F8 | c.1084G>C (p.Ala362Pro) c.*960G>C (n.*960G>C) c.979G>C (p.Ala327Pro) | |
X | g.154966613C>T | CA414916933 | F8 | c.1084G>A (p.Ala362Thr) c.*960G>A (n.*960G>A) c.979G>A (p.Ala327Thr) | |
X | g.154966617_154966619del | CA10568506 | F8 | c.1082_1084del (p.Glu361del) c.*958_*960del (n.*958_*960del) c.977_979del (p.Glu326del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966614T>A | CA414916937 | F8 | c.1083A>T (p.Glu361Asp) c.*959A>T (n.*959A>T) c.978A>T (p.Glu326Asp) | |
X | g.154966614T>C | CA519365634 | F8 | c.1083A>G (p.Glu361=) c.*959A>G (n.*959A>G) c.978A>G (p.Glu326=) | |
X | g.154966614T>G | CA414916939 | F8 | c.1083A>C (p.Glu361Asp) c.*959A>C (n.*959A>C) c.978A>C (p.Glu326Asp) | |
X | g.154966615dup | CA2695237384 | F8 | c.1083dup (p.Ala362SerfsTer5) c.*959dup (n.*959dup) c.978dup (p.Ala327SerfsTer5) | |
X | g.154966616_154966627del | CA2695237385 | F8 | c.1072_1083del (p.Asn358_Glu361del) c.*948_*959del (n.*948_*959del) c.967_978del (p.Asn323_Glu326del) | |
X | g.154966615T>A | CA414916942 | F8 | c.1082A>T (p.Glu361Val) c.*958A>T (n.*958A>T) c.977A>T (p.Glu326Val) | |
X | g.154966615T>C | CA414916944 | F8 | c.1082A>G (p.Glu361Gly) c.*958A>G (n.*958A>G) c.977A>G (p.Glu326Gly) | |
X | g.154966615T>G | CA414916946 | F8 | c.1082A>C (p.Glu361Ala) c.*958A>C (n.*958A>C) c.977A>C (p.Glu326Ala) | |
X | g.154966616C>A | CA414916950 | F8 | c.1081G>T (p.Glu361Ter) c.*957G>T (n.*957G>T) c.976G>T (p.Glu326Ter) | |
X | g.154966616C>G | CA414916953 | F8 | c.1081G>C (p.Glu361Gln) c.*957G>C (n.*957G>C) c.976G>C (p.Glu326Gln) | |
X | g.154966616C>T | CA414916955 | F8 | c.1081G>A (p.Glu361Lys) c.*957G>A (n.*957G>A) c.976G>A (p.Glu326Lys) | |
X | g.154966616_154966620delinsCTTCA | CA2466848149 | F8 | c.1077_1081delinsTGAAG (p.Asn359=) c.*953_*957delinsTGAAG (n.*953_*957delinsTGAAG) c.972_976delinsTGAAG (p.Asn324=) | |
X | g.154966617T>A | CA414916957 | F8 | c.1080A>T (p.Glu360Asp) c.*956A>T (n.*956A>T) c.975A>T (p.Glu325Asp) | |
X | g.154966617T>C | CA519365650 | F8 | c.1080A>G (p.Glu360=) c.*956A>G (n.*956A>G) c.975A>G (p.Glu325=) | |
X | g.154966617T>G | CA414916959 | F8 | c.1080A>C (p.Glu360Asp) c.*956A>C (n.*956A>C) c.975A>C (p.Glu325Asp) | |
X | g.154966617_154966619delinsTTC | CA2466848150 | F8 | c.1078_1080delinsGAA (p.Glu360=) c.*954_*956delinsGAA (n.*954_*956delinsGAA) c.973_975delinsGAA (p.Glu325=) | |
X | g.154966619_154966622del | CA255037 | F8 | c.1077_1080del (p.Asn359LysfsTer?) c.*953_*956del (n.*953_*956del) c.972_975del (p.Asn324LysfsTer?) | ClinVar dbSNP |
X | g.154966618T>A | CA414916965 | F8 | c.1079A>T (p.Glu360Val) c.*955A>T (n.*955A>T) c.974A>T (p.Glu325Val) | |
X | g.154966618T>C | CA414916976 | F8 | c.1079A>G (p.Glu360Gly) c.*955A>G (n.*955A>G) c.974A>G (p.Glu325Gly) | |
X | g.154966618T>G | CA414916971 | F8 | c.1079A>C (p.Glu360Ala) c.*955A>C (n.*955A>C) c.974A>C (p.Glu325Ala) | |
X | g.154966618_154966619del | CA255092 | F8 | c.1078_1079del (p.Glu360ArgfsTer6) c.*954_*955del (n.*954_*955del) c.973_974del (p.Glu325ArgfsTer6) | ClinVar dbSNP |
X | g.154966619C>A | CA414916978 | F8 | c.1078G>T (p.Glu360Ter) c.*954G>T (n.*954G>T) c.973G>T (p.Glu325Ter) | |
X | g.154966619C>G | CA414916981 | F8 | c.1078G>C (p.Glu360Gln) c.*954G>C (n.*954G>C) c.973G>C (p.Glu325Gln) | |
X | g.154966619C>T | CA414916982 | F8 | c.1078G>A (p.Glu360Lys) c.*954G>A (n.*954G>A) c.973G>A (p.Glu325Lys) | |
X | g.154966620A= | CA2466848151 | F8 | c.1077T= (p.Asn359=) c.*953T= (n.*953T=) c.972T= (p.Asn324=) | |
X | g.154966620A>C | CA414916983 | F8 | c.1077T>G (p.Asn359Lys) c.*953T>G (n.*953T>G) c.972T>G (p.Asn324Lys) | |
X | g.154966620A>G | CA10568507 | F8 | c.1077T>C (p.Asn359=) c.*953T>C (n.*953T>C) c.972T>C (p.Asn324=) | dbSNP ExAC gnomAD v2 |
X | g.154966620A>T | CA414916984 | F8 | c.1077T>A (p.Asn359Lys) c.*953T>A (n.*953T>A) c.972T>A (p.Asn324Lys) | |
X | g.154966621T>A | CA414916985 | F8 | c.1076A>T (p.Asn359Ile) c.*952A>T (n.*952A>T) c.971A>T (p.Asn324Ile) | |
X | g.154966621T>C | CA414916987 | F8 | c.1076A>G (p.Asn359Ser) c.*952A>G (n.*952A>G) c.971A>G (p.Asn324Ser) | dbSNP gnomAD v4 |
X | g.154966621T>G | CA414916990 | F8 | c.1076A>C (p.Asn359Thr) c.*952A>C (n.*952A>C) c.971A>C (p.Asn324Thr) | |
X | g.154966621T= | CA2466848152 | F8 | c.1076A= (p.Asn359=) c.*952A= (n.*952A=) c.971A= (p.Asn324=) | |
X | g.154966622T>A | CA414916994 | F8 | c.1075A>T (p.Asn359Tyr) c.*951A>T (n.*951A>T) c.970A>T (p.Asn324Tyr) | |
X | g.154966622T>C | CA414916997 | F8 | c.1075A>G (p.Asn359Asp) c.*951A>G (n.*951A>G) c.970A>G (p.Asn324Asp) | |
X | g.154966622T>G | CA414916999 | F8 | c.1075A>C (p.Asn359His) c.*951A>C (n.*951A>C) c.970A>C (p.Asn324His) | |
X | g.154966623A= | CA2466848153 | F8 | c.1074T= (p.Asn358=) c.*950T= (n.*950T=) c.969T= (p.Asn323=) | |
X | g.154966623A>C | CA414917002 | F8 | c.1074T>G (p.Asn358Lys) c.*950T>G (n.*950T>G) c.969T>G (p.Asn323Lys) | |
X | g.154966623A>G | CA519365683 | F8 | c.1074T>C (p.Asn358=) c.*950T>C (n.*950T>C) c.969T>C (p.Asn323=) | |
X | g.154966623A>T | CA414917003 | F8 | c.1074T>A (p.Asn358Lys) c.*950T>A (n.*950T>A) c.969T>A (p.Asn323Lys) | |
X | g.154966623dup | CA2695237389 | F8 | c.1074dup (p.Asn359Ter) c.*950dup (n.*950dup) c.969dup (p.Asn324Ter) | |
X | g.154966624T>A | CA414917004 | F8 | c.1073A>T (p.Asn358Ile) c.*949A>T (n.*949A>T) c.968A>T (p.Asn323Ile) | |
X | g.154966624T>C | CA414917006 | F8 | c.1073A>G (p.Asn358Ser) c.*949A>G (n.*949A>G) c.968A>G (p.Asn323Ser) | |
X | g.154966624T>G | CA414917005 | F8 | c.1073A>C (p.Asn358Thr) c.*949A>C (n.*949A>C) c.968A>C (p.Asn323Thr) | |
X | g.154966628dup | CA645605367 | F8 | c.1073dup (p.Asn358LysfsTer2) c.*949dup (n.*949dup) c.968dup (p.Asn323LysfsTer2) | ClinVar dbSNP COSMIC COSMIC |
X | g.154966628del | CA2695237392 | F8 | c.1073del (p.Asn358IlefsTer?) c.*949del (n.*949del) c.968del (p.Asn323IlefsTer?) | |
X | g.154966625T>A | CA414917009 | F8 | c.1072A>T (p.Asn358Tyr) c.*948A>T (n.*948A>T) c.967A>T (p.Asn323Tyr) | |
X | g.154966625T>C | CA414917010 | F8 | c.1072A>G (p.Asn358Asp) c.*948A>G (n.*948A>G) c.967A>G (p.Asn323Asp) | |
X | g.154966625T>G | CA414917012 | F8 | c.1072A>C (p.Asn358His) c.*948A>C (n.*948A>C) c.967A>C (p.Asn323His) | |
X | g.154966626T>A | CA414917014 | F8 | c.1071A>T (p.Lys357Asn) c.*947A>T (n.*947A>T) c.966A>T (p.Lys322Asn) | |
X | g.154966626T>C | CA519365700 | F8 | c.1071A>G (p.Lys357=) c.*947A>G (n.*947A>G) c.966A>G (p.Lys322=) | |
X | g.154966626T>G | CA414917020 | F8 | c.1071A>C (p.Lys357Asn) c.*947A>C (n.*947A>C) c.966A>C (p.Lys322Asn) | |
X | g.154966627T>A | CA414917022 | F8 | c.1070A>T (p.Lys357Ile) c.*946A>T (n.*946A>T) c.965A>T (p.Lys322Ile) | |
X | g.154966627T>C | CA414917024 | F8 | c.1070A>G (p.Lys357Arg) c.*946A>G (n.*946A>G) c.965A>G (p.Lys322Arg) | |
X | g.154966627T>G | CA414917027 | F8 | c.1070A>C (p.Lys357Thr) c.*946A>C (n.*946A>C) c.965A>C (p.Lys322Thr) | |
X | g.154966628T>A | CA414917034 | F8 | c.1069A>T (p.Lys357Ter) c.*945A>T (n.*945A>T) c.964A>T (p.Lys322Ter) | |
X | g.154966628T>C | CA414917032 | F8 | c.1069A>G (p.Lys357Glu) c.*945A>G (n.*945A>G) c.964A>G (p.Lys322Glu) | |
X | g.154966628T>G | CA414917030 | F8 | c.1069A>C (p.Lys357Gln) c.*945A>C (n.*945A>C) c.964A>C (p.Lys322Gln) | |
X | g.154966629C>A | CA414917038 | F8 | c.1068G>T (p.Met356Ile) c.*944G>T (n.*944G>T) c.963G>T (p.Met321Ile) | |
X | g.154966629C>G | CA414917041 | F8 | c.1068G>C (p.Met356Ile) c.*944G>C (n.*944G>C) c.963G>C (p.Met321Ile) | |
X | g.154966629C>T | CA414917042 | F8 | c.1068G>A (p.Met356Ile) c.*944G>A (n.*944G>A) c.963G>A (p.Met321Ile) | gnomAD v4 |
X | g.154966630A>C | CA414917045 | F8 | c.1067T>G (p.Met356Arg) c.*943T>G (n.*943T>G) c.962T>G (p.Met321Arg) | |
X | g.154966630A>G | CA414917047 | F8 | c.1067T>C (p.Met356Thr) c.*943T>C (n.*943T>C) c.962T>C (p.Met321Thr) | |
X | g.154966630A>T | CA414917050 | F8 | c.1067T>A (p.Met356Lys) c.*943T>A (n.*943T>A) c.962T>A (p.Met321Lys) | |
X | g.154966630_154966631del | CA2551730358 | F8 | c.1066_1067del (p.Met356GlufsTer3) c.*942_*943del (n.*942_*943del) c.961_962del (p.Met321GlufsTer3) | |
X | g.154966631T>A | CA414917051 | F8 | c.1066A>T (p.Met356Leu) c.*942A>T (n.*942A>T) c.961A>T (p.Met321Leu) | |
X | g.154966631T>C | CA414917052 | F8 | c.1066A>G (p.Met356Val) c.*942A>G (n.*942A>G) c.961A>G (p.Met321Val) | |
X | g.154966631T>G | CA414917053 | F8 | c.1066A>C (p.Met356Leu) c.*942A>C (n.*942A>C) c.961A>C (p.Met321Leu) | |
X | g.154966632T>A | CA519365725 | F8 | c.1065A>T (p.Arg355=) c.*941A>T (n.*941A>T) c.960A>T (p.Arg320=) | |
X | g.154966632T>C | CA519365721 | F8 | c.1065A>G (p.Arg355=) c.*941A>G (n.*941A>G) c.960A>G (p.Arg320=) | |
X | g.154966632T>G | CA519365726 | F8 | c.1065A>C (p.Arg355=) c.*941A>C (n.*941A>C) c.960A>C (p.Arg320=) | |
X | g.154966633C>A | CA414917054 | F8 | c.1064G>T (p.Arg355Leu) c.*940G>T (n.*940G>T) c.959G>T (p.Arg320Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966633C= | CA2466848154 | F8 | c.1064G= (p.Arg355=) c.*940G= (n.*940G=) c.959G= (p.Arg320=) | |
X | g.154966633C>G | CA414917055 | F8 | c.1064G>C (p.Arg355Pro) c.*940G>C (n.*940G>C) c.959G>C (p.Arg320Pro) | |
X | g.154966633C>T | CA10568508 | F8 | c.1064G>A (p.Arg355Gln) c.*940G>A (n.*940G>A) c.959G>A (p.Arg320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966634G>A | CA255031 | F8 | c.1063C>T (p.Arg355Ter) c.*939C>T (n.*939C>T) c.958C>T (p.Arg320Ter) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.154966634G>C | CA414917071 | F8 | c.1063C>G (p.Arg355Gly) c.*939C>G (n.*939C>G) c.958C>G (p.Arg320Gly) | |
X | g.154966634G= | CA2466848155 | F8 | c.1063C= (p.Arg355=) c.*939C= (n.*939C=) c.958C= (p.Arg320=) | |
X | g.154966634G>T | CA519365739 | F8 | c.1063C>A (p.Arg355=) c.*939C>A (n.*939C>A) c.958C>A (p.Arg320=) | dbSNP |
X | g.154966635T>A | CA519365745 | F8 | c.1062A>T (p.Leu354=) c.*938A>T (n.*938A>T) c.957A>T (p.Leu319=) | |
X | g.154966635T>C | CA519365748 | F8 | c.1062A>G (p.Leu354=) c.*938A>G (n.*938A>G) c.957A>G (p.Leu319=) | dbSNP |
X | g.154966635T>G | CA519365751 | F8 | c.1062A>C (p.Leu354=) c.*938A>C (n.*938A>C) c.957A>C (p.Leu319=) | |
X | g.154966635T= | CA2466848156 | F8 | c.1062A= (p.Leu354=) c.*938A= (n.*938A=) c.957A= (p.Leu319=) | |
X | g.154966635_154966636dup | CA2695237393 | F8 | c.1061_1062dup (p.Arg355TyrfsTer3) c.*937_*938dup (n.*937_*938dup) c.956_957dup (p.Arg320TyrfsTer3) | |
X | g.154966636A>C | CA414917078 | F8 | c.1061T>G (p.Leu354Arg) c.*937T>G (n.*937T>G) c.956T>G (p.Leu319Arg) | |
X | g.154966636A>G | CA414917081 | F8 | c.1061T>C (p.Leu354Pro) c.*937T>C (n.*937T>C) c.956T>C (p.Leu319Pro) | |
X | g.154966636A>T | CA414917082 | F8 | c.1061T>A (p.Leu354Gln) c.*937T>A (n.*937T>A) c.956T>A (p.Leu319Gln) | |
X | g.154966637G>A | CA519365758 | F8 | c.1060C>T (p.Leu354=) c.*936C>T (n.*936C>T) c.955C>T (p.Leu319=) | |
X | g.154966637G>C | CA414917085 | F8 | c.1060C>G (p.Leu354Val) c.*936C>G (n.*936C>G) c.955C>G (p.Leu319Val) | |
X | g.154966637G>T | CA414917087 | F8 | c.1060C>A (p.Leu354Ile) c.*936C>A (n.*936C>A) c.955C>A (p.Leu319Ile) | |
X | g.154966638T>A | CA414917092 | F8 | c.1059A>T (p.Gln353His) c.*935A>T (n.*935A>T) c.954A>T (p.Gln318His) | |
X | g.154966638T>C | CA10568509 | F8 | c.1059A>G (p.Gln353=) c.*935A>G (n.*935A>G) c.954A>G (p.Gln318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966638T>G | CA414917095 | F8 | c.1059A>C (p.Gln353His) c.*935A>C (n.*935A>C) c.954A>C (p.Gln318His) | |
X | g.154966638T= | CA2466848157 | F8 | c.1059A= (p.Gln353=) c.*935A= (n.*935A=) c.954A= (p.Gln318=) | |
X | g.154966639T>A | CA414917100 | F8 | c.1058A>T (p.Gln353Leu) c.*934A>T (n.*934A>T) c.953A>T (p.Gln318Leu) | |
X | g.154966639T>C | CA414917103 | F8 | c.1058A>G (p.Gln353Arg) c.*934A>G (n.*934A>G) c.953A>G (p.Gln318Arg) | |
X | g.154966639T>G | CA414917104 | F8 | c.1058A>C (p.Gln353Pro) c.*934A>C (n.*934A>C) c.953A>C (p.Gln318Pro) | |
X | g.154966640G>A | CA414917107 | F8 | c.1057C>T (p.Gln353Ter) c.*933C>T (n.*933C>T) c.952C>T (p.Gln318Ter) | |
X | g.154966640G>C | CA414917106 | F8 | c.1057C>G (p.Gln353Glu) c.*933C>G (n.*933C>G) c.952C>G (p.Gln318Glu) | |
X | g.154966640G>T | CA414917105 | F8 | c.1057C>A (p.Gln353Lys) c.*933C>A (n.*933C>A) c.952C>A (p.Gln318Lys) | |
X | g.154966641G>A | CA519365774 | F8 | c.1056C>T (p.Pro352=) c.*932C>T (n.*932C>T) c.951C>T (p.Pro317=) | |
X | g.154966641G>C | CA519365775 | F8 | c.1056C>G (p.Pro352=) c.*932C>G (n.*932C>G) c.951C>G (p.Pro317=) | |
X | g.154966641G>T | CA519365776 | F8 | c.1056C>A (p.Pro352=) c.*932C>A (n.*932C>A) c.951C>A (p.Pro317=) | |
X | g.154966642G>A | CA414917109 | F8 | c.1055C>T (p.Pro352Leu) c.*931C>T (n.*931C>T) c.950C>T (p.Pro317Leu) | |
X | g.154966642G>C | CA414917113 | F8 | c.1055C>G (p.Pro352Arg) c.*931C>G (n.*931C>G) c.950C>G (p.Pro317Arg) | |
X | g.154966642G>T | CA414917111 | F8 | c.1055C>A (p.Pro352His) c.*931C>A (n.*931C>A) c.950C>A (p.Pro317His) | |
X | g.154966643G>A | CA414917115 | F8 | c.1054C>T (p.Pro352Ser) c.*930C>T (n.*930C>T) c.949C>T (p.Pro317Ser) | |
X | g.154966643G>C | CA414917117 | F8 | c.1054C>G (p.Pro352Ala) c.*930C>G (n.*930C>G) c.949C>G (p.Pro317Ala) | |
X | g.154966643G>T | CA414917116 | F8 | c.1054C>A (p.Pro352Thr) c.*930C>A (n.*930C>A) c.949C>A (p.Pro317Thr) | |
X | g.154966644T>A | CA414917118 | F8 | c.1053A>T (p.Glu351Asp) c.*929A>T (n.*929A>T) c.948A>T (p.Glu316Asp) | |
X | g.154966644T>C | CA519365790 | F8 | c.1053A>G (p.Glu351=) c.*929A>G (n.*929A>G) c.948A>G (p.Glu316=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966644T>G | CA414917119 | F8 | c.1053A>C (p.Glu351Asp) c.*929A>C (n.*929A>C) c.948A>C (p.Glu316Asp) | |
X | g.154966644T= | CA2466848158 | F8 | c.1053A= (p.Glu351=) c.*929A= (n.*929A=) c.948A= (p.Glu316=) | |
X | g.154966645T>A | CA414917122 | F8 | c.1052A>T (p.Glu351Val) c.*928A>T (n.*928A>T) c.947A>T (p.Glu316Val) | |
X | g.154966645T>C | CA414917139 | F8 | c.1052A>G (p.Glu351Gly) c.*928A>G (n.*928A>G) c.947A>G (p.Glu316Gly) | |
X | g.154966645T>G | CA414917125 | F8 | c.1052A>C (p.Glu351Ala) c.*928A>C (n.*928A>C) c.947A>C (p.Glu316Ala) | |
X | g.154966646C>A | CA414917143 | F8 | c.1051G>T (p.Glu351Ter) c.*927G>T (n.*927G>T) c.946G>T (p.Glu316Ter) | |
X | g.154966646C>G | CA414917144 | F8 | c.1051G>C (p.Glu351Gln) c.*927G>C (n.*927G>C) c.946G>C (p.Glu316Gln) | |
X | g.154966646C>T | CA414917145 | F8 | c.1051G>A (p.Glu351Lys) c.*927G>A (n.*927G>A) c.946G>A (p.Glu316Lys) | |
X | g.154966647C>A | CA414917146 | F8 | c.1050G>T (p.Glu350Asp) c.*926G>T (n.*926G>T) c.945G>T (p.Glu315Asp) | |
X | g.154966647C>G | CA414917148 | F8 | c.1050G>C (p.Glu350Asp) c.*926G>C (n.*926G>C) c.945G>C (p.Glu315Asp) | |
X | g.154966647C>T | CA519365805 | F8 | c.1050G>A (p.Glu350=) c.*926G>A (n.*926G>A) c.945G>A (p.Glu315=) | |
X | g.154966648T>A | CA414917149 | F8 | c.1049A>T (p.Glu350Val) c.*925A>T (n.*925A>T) c.944A>T (p.Glu315Val) | |
X | g.154966648T>C | CA414917151 | F8 | c.1049A>G (p.Glu350Gly) c.*925A>G (n.*925A>G) c.944A>G (p.Glu315Gly) | |
X | g.154966648T>G | CA414917154 | F8 | c.1049A>C (p.Glu350Ala) c.*925A>C (n.*925A>C) c.944A>C (p.Glu315Ala) | |
X | g.154966649C>A | CA414917161 | F8 | c.1048G>T (p.Glu350Ter) c.*924G>T (n.*924G>T) c.943G>T (p.Glu315Ter) | dbSNP |
X | g.154966649C= | CA2466848159 | F8 | c.1048G= (p.Glu350=) c.*924G= (n.*924G=) c.943G= (p.Glu315=) | |
X | g.154966649C>G | CA414917163 | F8 | c.1048G>C (p.Glu350Gln) c.*924G>C (n.*924G>C) c.943G>C (p.Glu315Gln) | |
X | g.154966649C>T | CA414917169 | F8 | c.1048G>A (p.Glu350Lys) c.*924G>A (n.*924G>A) c.943G>A (p.Glu315Lys) | |
X | g.154966650T>A | CA519365835 | F8 | c.1047A>T (p.Pro349=) c.*923A>T (n.*923A>T) c.942A>T (p.Pro314=) | |
X | g.154966650T>C | CA519365837 | F8 | c.1047A>G (p.Pro349=) c.*923A>G (n.*923A>G) c.942A>G (p.Pro314=) | |
X | g.154966650T>G | CA519365841 | F8 | c.1047A>C (p.Pro349=) c.*923A>C (n.*923A>C) c.942A>C (p.Pro314=) | |
X | g.154966651G>A | CA414917172 | F8 | c.1046C>T (p.Pro349Leu) c.*922C>T (n.*922C>T) c.941C>T (p.Pro314Leu) | |
X | g.154966651G>C | CA414917176 | F8 | c.1046C>G (p.Pro349Arg) c.*922C>G (n.*922C>G) c.941C>G (p.Pro314Arg) | |
X | g.154966651G>T | CA414917174 | F8 | c.1046C>A (p.Pro349Gln) c.*922C>A (n.*922C>A) c.941C>A (p.Pro314Gln) | |
X | g.154966652G>A | CA414917180 | F8 | c.1045C>T (p.Pro349Ser) c.*921C>T (n.*921C>T) c.940C>T (p.Pro314Ser) | |
X | g.154966652G>C | CA414917182 | F8 | c.1045C>G (p.Pro349Ala) c.*921C>G (n.*921C>G) c.940C>G (p.Pro314Ala) | |
X | g.154966652G>T | CA414917184 | F8 | c.1045C>A (p.Pro349Thr) c.*921C>A (n.*921C>A) c.940C>A (p.Pro314Thr) | |
X | g.154966653A>C | CA414917187 | F8 | c.1044T>G (p.Cys348Trp) c.*920T>G (n.*920T>G) c.939T>G (p.Cys313Trp) | |
X | g.154966653A>G | CA519365858 | F8 | c.1044T>C (p.Cys348=) c.*920T>C (n.*920T>C) c.939T>C (p.Cys313=) | |
X | g.154966653A>T | CA414917189 | F8 | c.1044T>A (p.Cys348Ter) c.*920T>A (n.*920T>A) c.939T>A (p.Cys313Ter) | |
X | g.154966654C>A | CA414917192 | F8 | c.1043G>T (p.Cys348Phe) c.*919G>T (n.*919G>T) c.938G>T (p.Cys313Phe) | |
X | g.154966654C= | CA2466848160 | F8 | c.1043G= (p.Cys348=) c.*919G= (n.*919G=) c.938G= (p.Cys313=) | |
X | g.154966654C>G | CA255091 | F8 | c.1043G>C (p.Cys348Ser) c.*919G>C (n.*919G>C) c.938G>C (p.Cys313Ser) | ClinVar dbSNP |
X | g.154966654C>T | CA414917196 | F8 | c.1043G>A (p.Cys348Tyr) c.*919G>A (n.*919G>A) c.938G>A (p.Cys313Tyr) | |
X | g.154966655A= | CA2466848161 | F8 | c.1042T= (p.Cys348=) c.*918T= (n.*918T=) c.937T= (p.Cys313=) | |
X | g.154966655A>C | CA414917199 | F8 | c.1042T>G (p.Cys348Gly) c.*918T>G (n.*918T>G) c.937T>G (p.Cys313Gly) | |
X | g.154966655A>G | CA337336620 | F8 | c.1042T>C (p.Cys348Arg) c.*918T>C (n.*918T>C) c.937T>C (p.Cys313Arg) | dbSNP |
X | g.154966655A>T | CA414917198 | F8 | c.1042T>A (p.Cys348Ser) c.*918T>A (n.*918T>A) c.937T>A (p.Cys313Ser) | |
X | g.154966656G>A | CA519365876 | F8 | c.1041C>T (p.Ser347=) c.*917C>T (n.*917C>T) c.936C>T (p.Ser312=) | |
X | g.154966656G>C | CA414917205 | F8 | c.1041C>G (p.Ser347Arg) c.*917C>G (n.*917C>G) c.936C>G (p.Ser312Arg) | |
X | g.154966656G>T | CA414917209 | F8 | c.1041C>A (p.Ser347Arg) c.*917C>A (n.*917C>A) c.936C>A (p.Ser312Arg) | |
X | g.154966657C>A | CA414917213 | F8 | c.1040G>T (p.Ser347Ile) c.*916G>T (n.*916G>T) c.935G>T (p.Ser312Ile) | gnomAD v4 |
X | g.154966657C= | CA2466848162 | F8 | c.1040G= (p.Ser347=) c.*916G= (n.*916G=) c.935G= (p.Ser312=) | |
X | g.154966657C>G | CA414917218 | F8 | c.1040G>C (p.Ser347Thr) c.*916G>C (n.*916G>C) c.935G>C (p.Ser312Thr) | |
X | g.154966657C>T | CA414917220 | F8 | c.1040G>A (p.Ser347Asn) c.*916G>A (n.*916G>A) c.935G>A (p.Ser312Asn) | dbSNP gnomAD v4 |
X | g.154966659_154966662del | CA2695237394 | F8 | c.1037_1040del (p.Asp346AlafsTer10) c.*913_*916del (n.*913_*916del) c.932_935del (p.Asp311AlafsTer10) | |
X | g.154966658T>A | CA414917226 | F8 | c.1039A>T (p.Ser347Cys) c.*915A>T (n.*915A>T) c.934A>T (p.Ser312Cys) | |
X | g.154966658T>C | CA414917227 | F8 | c.1039A>G (p.Ser347Gly) c.*915A>G (n.*915A>G) c.934A>G (p.Ser312Gly) | |
X | g.154966658T>G | CA414917229 | F8 | c.1039A>C (p.Ser347Arg) c.*915A>C (n.*915A>C) c.934A>C (p.Ser312Arg) | |
X | g.154966658_154966659delinsTG | CA2466848163 | F8 | c.1038_1039delinsCA (p.Asp346=) c.*914_*915delinsCA (n.*914_*915delinsCA) c.933_934delinsCA (p.Asp311=) | |
X | g.154966659del | CA873344792 | F8 | c.1038del (p.Asp346GlufsTer11) c.*914del (n.*914del) c.933del (p.Asp311GlufsTer11) | dbSNP |
X | g.154966659G>A | CA519365888 | F8 | c.1038C>T (p.Asp346=) c.*914C>T (n.*914C>T) c.933C>T (p.Asp311=) | |
X | g.154966659G>C | CA414917230 | F8 | c.1038C>G (p.Asp346Glu) c.*914C>G (n.*914C>G) c.933C>G (p.Asp311Glu) | |
X | g.154966659G>T | CA414917232 | F8 | c.1038C>A (p.Asp346Glu) c.*914C>A (n.*914C>A) c.933C>A (p.Asp311Glu) | |
X | g.154966660T>A | CA414917241 | F8 | c.1037A>T (p.Asp346Val) c.*913A>T (n.*913A>T) c.932A>T (p.Asp311Val) | |
X | g.154966660T>C | CA414917238 | F8 | c.1037A>G (p.Asp346Gly) c.*913A>G (n.*913A>G) c.932A>G (p.Asp311Gly) | gnomAD v4 |
X | g.154966660T>G | CA414917236 | F8 | c.1037A>C (p.Asp346Ala) c.*913A>C (n.*913A>C) c.932A>C (p.Asp311Ala) | |
X | g.154966661C>A | CA414917248 | F8 | c.1036G>T (p.Asp346Tyr) c.*912G>T (n.*912G>T) c.931G>T (p.Asp311Tyr) | |
X | g.154966661C>G | CA414917250 | F8 | c.1036G>C (p.Asp346His) c.*912G>C (n.*912G>C) c.931G>C (p.Asp311His) | |
X | g.154966661C>T | CA414917251 | F8 | c.1036G>A (p.Asp346Asn) c.*912G>A (n.*912G>A) c.931G>A (p.Asp311Asn) | |
X | g.154966662T>A | CA519365905 | F8 | c.1035A>T (p.Val345=) c.*911A>T (n.*911A>T) c.930A>T (p.Val310=) | |
X | g.154966662T>C | CA519365908 | F8 | c.1035A>G (p.Val345=) c.*911A>G (n.*911A>G) c.930A>G (p.Val310=) | |
X | g.154966662T>G | CA519365910 | F8 | c.1035A>C (p.Val345=) c.*911A>C (n.*911A>C) c.930A>C (p.Val310=) | |
X | g.154966663A= | CA2466848164 | F8 | c.1034T= (p.Val345=) c.*910T= (n.*910T=) c.929T= (p.Val310=) | |
X | g.154966663A>C | CA414917255 | F8 | c.1034T>G (p.Val345Gly) c.*910T>G (n.*910T>G) c.929T>G (p.Val310Gly) | |
X | g.154966663A>G | CA414917257 | F8 | c.1034T>C (p.Val345Ala) c.*910T>C (n.*910T>C) c.929T>C (p.Val310Ala) | ClinVar dbSNP |
X | g.154966663A>T | CA414917259 | F8 | c.1034T>A (p.Val345Glu) c.*910T>A (n.*910T>A) c.929T>A (p.Val310Glu) | |
X | g.154966664C>A | CA255036 | F8 | c.1033G>T (p.Val345Leu) c.*909G>T (n.*909G>T) c.928G>T (p.Val310Leu) | ClinVar dbSNP |
X | g.154966664C= | CA2466848165 | F8 | c.1033G= (p.Val345=) c.*909G= (n.*909G=) c.928G= (p.Val310=) | |
X | g.154966664C>G | CA337336646 | F8 | c.1033G>C (p.Val345Leu) c.*909G>C (n.*909G>C) c.928G>C (p.Val310Leu) | dbSNP |
X | g.154966664C>T | CA414917265 | F8 | c.1033G>A (p.Val345Ile) c.*909G>A (n.*909G>A) c.928G>A (p.Val310Ile) | |
X | g.154966665T>A | CA414917269 | F8 | c.1032A>T (p.Lys344Asn) c.*908A>T (n.*908A>T) c.927A>T (p.Lys309Asn) | |
X | g.154966665T>C | CA337336648 | F8 | c.1032A>G (p.Lys344=) c.*908A>G (n.*908A>G) c.927A>G (p.Lys309=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966665T>G | CA414917270 | F8 | c.1032A>C (p.Lys344Asn) c.*908A>C (n.*908A>C) c.927A>C (p.Lys309Asn) | |
X | g.154966665T= | CA2466848166 | F8 | c.1032A= (p.Lys344=) c.*908A= (n.*908A=) c.927A= (p.Lys309=) | |
X | g.154966666T>A | CA414917274 | F8 | c.1031A>T (p.Lys344Ile) c.*907A>T (n.*907A>T) c.926A>T (p.Lys309Ile) | |
X | g.154966666T>C | CA414917272 | F8 | c.1031A>G (p.Lys344Arg) c.*907A>G (n.*907A>G) c.926A>G (p.Lys309Arg) | |
X | g.154966666T>G | CA414917271 | F8 | c.1031A>C (p.Lys344Thr) c.*907A>C (n.*907A>C) c.926A>C (p.Lys309Thr) | |
X | g.154966667T>A | CA414917275 | F8 | c.1030A>T (p.Lys344Ter) c.*906A>T (n.*906A>T) c.925A>T (p.Lys309Ter) | |
X | g.154966667T>C | CA414917279 | F8 | c.1030A>G (p.Lys344Glu) c.*906A>G (n.*906A>G) c.925A>G (p.Lys309Glu) | |
X | g.154966667T>G | CA10568510 | F8 | c.1030A>C (p.Lys344Gln) c.*906A>C (n.*906A>C) c.925A>C (p.Lys309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966667T= | CA2466848167 | F8 | c.1030A= (p.Lys344=) c.*906A= (n.*906A=) c.925A= (p.Lys309=) | |
X | g.154966668_154966677del | CA2695237397 | F8 | c.1021_1030del (p.Ala341LysfsTer2) c.*897_*906del (n.*897_*906del) c.916_925del (p.Ala306LysfsTer2) | |
X | g.154966668G>A | CA519365942 | F8 | c.1029C>T (p.Val343=) c.*905C>T (n.*905C>T) c.924C>T (p.Val308=) | gnomAD v4 |
X | g.154966668G>C | CA519365935 | F8 | c.1029C>G (p.Val343=) c.*905C>G (n.*905C>G) c.924C>G (p.Val308=) | |
X | g.154966668G>T | CA519365940 | F8 | c.1029C>A (p.Val343=) c.*905C>A (n.*905C>A) c.924C>A (p.Val308=) | |
X | g.154966669A>C | CA414917284 | F8 | c.1028T>G (p.Val343Gly) c.*904T>G (n.*904T>G) c.923T>G (p.Val308Gly) | |
X | g.154966669A>G | CA414917285 | F8 | c.1028T>C (p.Val343Ala) c.*904T>C (n.*904T>C) c.923T>C (p.Val308Ala) | COSMIC COSMIC |
X | g.154966669A>T | CA414917287 | F8 | c.1028T>A (p.Val343Asp) c.*904T>A (n.*904T>A) c.923T>A (p.Val308Asp) | |
X | g.154966670C>A | CA414917288 | F8 | c.1027G>T (p.Val343Phe) c.*903G>T (n.*903G>T) c.922G>T (p.Val308Phe) | gnomAD v4 |
X | g.154966670C>G | CA414917291 | F8 | c.1027G>C (p.Val343Leu) c.*903G>C (n.*903G>C) c.922G>C (p.Val308Leu) | |
X | g.154966670C>T | CA414917293 | F8 | c.1027G>A (p.Val343Ile) c.*903G>A (n.*903G>A) c.922G>A (p.Val308Ile) | |
X | g.154966671A= | CA2466848168 | F8 | c.1026T= (p.Tyr342=) c.*902T= (n.*902T=) c.921T= (p.Tyr307=) | |
X | g.154966671A>C | CA414917296 | F8 | c.1026T>G (p.Tyr342Ter) c.*902T>G (n.*902T>G) c.921T>G (p.Tyr307Ter) | |
X | g.154966671A>G | CA519365961 | F8 | c.1026T>C (p.Tyr342=) c.*902T>C (n.*902T>C) c.921T>C (p.Tyr307=) | |
X | g.154966671A>T | CA255087 | F8 | c.1026T>A (p.Tyr342Ter) c.*902T>A (n.*902T>A) c.921T>A (p.Tyr307Ter) | ClinVar dbSNP |
X | g.154966672_154966673del | CA2695237398 | F8 | c.1025_1026del (p.Tyr342CysfsTer17) c.*901_*902del (n.*901_*902del) c.920_921del (p.Tyr307CysfsTer17) | |
X | g.154966672T>A | CA414917299 | F8 | c.1025A>T (p.Tyr342Phe) c.*901A>T (n.*901A>T) c.920A>T (p.Tyr307Phe) | |
X | g.154966672T>C | CA414917302 | F8 | c.1025A>G (p.Tyr342Cys) c.*901A>G (n.*901A>G) c.920A>G (p.Tyr307Cys) | |
X | g.154966672T>G | CA414917305 | F8 | c.1025A>C (p.Tyr342Ser) c.*901A>C (n.*901A>C) c.920A>C (p.Tyr307Ser) | |
X | g.154966673A>C | CA414917308 | F8 | c.1024T>G (p.Tyr342Asp) c.*900T>G (n.*900T>G) c.919T>G (p.Tyr307Asp) | |
X | g.154966673A>G | CA414917315 | F8 | c.1024T>C (p.Tyr342His) c.*900T>C (n.*900T>C) c.919T>C (p.Tyr307His) | |
X | g.154966673A>T | CA414917310 | F8 | c.1024T>A (p.Tyr342Asn) c.*900T>A (n.*900T>A) c.919T>A (p.Tyr307Asn) | |
X | g.154966674del | CA2695237400 | F8 | c.1024del (p.Tyr342MetfsTer4) c.*900del (n.*900del) c.919del (p.Tyr307MetfsTer4) | |
X | g.154966674_154966681del | CA2695237399 | F8 | c.1017_1024del (p.Met339IlefsTer18) c.*893_*900del (n.*893_*900del) c.912_919del (p.Met304IlefsTer18) | |
X | g.154966674A= | CA2466848169 | F8 | c.1023T= (p.Ala341=) c.*899T= (n.*899T=) c.918T= (p.Ala306=) | |
X | g.154966674A>C | CA519365982 | F8 | c.1023T>G (p.Ala341=) c.*899T>G (n.*899T>G) c.918T>G (p.Ala306=) | |
X | g.154966674A>G | CA519365977 | F8 | c.1023T>C (p.Ala341=) c.*899T>C (n.*899T>C) c.918T>C (p.Ala306=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966674A>T | CA519365979 | F8 | c.1023T>A (p.Ala341=) c.*899T>A (n.*899T>A) c.918T>A (p.Ala306=) | |
X | g.154966675G>A | CA414917317 | F8 | c.1022C>T (p.Ala341Val) c.*898C>T (n.*898C>T) c.917C>T (p.Ala306Val) | |
X | g.154966675G>C | CA414917319 | F8 | c.1022C>G (p.Ala341Gly) c.*898C>G (n.*898C>G) c.917C>G (p.Ala306Gly) | |
X | g.154966675G>T | CA414917322 | F8 | c.1022C>A (p.Ala341Asp) c.*898C>A (n.*898C>A) c.917C>A (p.Ala306Asp) | |
X | g.154966676C>A | CA414917326 | F8 | c.1021G>T (p.Ala341Ser) c.*897G>T (n.*897G>T) c.916G>T (p.Ala306Ser) | |
X | g.154966676C>G | CA414917327 | F8 | c.1021G>C (p.Ala341Pro) c.*897G>C (n.*897G>C) c.916G>C (p.Ala306Pro) | |
X | g.154966676C>T | CA414917330 | F8 | c.1021G>A (p.Ala341Thr) c.*897G>A (n.*897G>A) c.916G>A (p.Ala306Thr) | gnomAD v4 |
X | g.154966677T>A | CA414917333 | F8 | c.1020A>T (p.Glu340Asp) c.*896A>T (n.*896A>T) c.915A>T (p.Glu305Asp) | |
X | g.154966677T>C | CA519365995 | F8 | c.1020A>G (p.Glu340=) c.*896A>G (n.*896A>G) c.915A>G (p.Glu305=) | |
X | g.154966677T>G | CA414917341 | F8 | c.1020A>C (p.Glu340Asp) c.*896A>C (n.*896A>C) c.915A>C (p.Glu305Asp) | ClinVar dbSNP gnomAD v4 |
X | g.154966677T= | CA2466848170 | F8 | c.1020A= (p.Glu340=) c.*896A= (n.*896A=) c.915A= (p.Glu305=) |