Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28141570A>C | CA391381495 | HERC2 | c.11877T>G (p.His3959Gln) c.3588T>G (p.His1196Gln) c.11763T>G (p.His3921Gln) c.11862T>G (p.His3954Gln) c.11619T>G (p.His3873Gln) c.11394T>G (p.His3798Gln) c.9393T>G (p.His3131Gln) c.8622T>G (p.His2874Gln) c.5994T>G (p.His1998Gln) c.5043T>G (p.His1681Gln) | |
15 | g.28141570A>G | CA489234781 | HERC2 | c.11877T>C (p.His3959=) c.3588T>C (p.His1196=) c.11763T>C (p.His3921=) c.11862T>C (p.His3954=) c.11619T>C (p.His3873=) c.11394T>C (p.His3798=) c.9393T>C (p.His3131=) c.8622T>C (p.His2874=) c.5994T>C (p.His1998=) c.5043T>C (p.His1681=) | |
15 | g.28141570A>T | CA391381497 | HERC2 | c.11877T>A (p.His3959Gln) c.3588T>A (p.His1196Gln) c.11763T>A (p.His3921Gln) c.11862T>A (p.His3954Gln) c.11619T>A (p.His3873Gln) c.11394T>A (p.His3798Gln) c.9393T>A (p.His3131Gln) c.8622T>A (p.His2874Gln) c.5994T>A (p.His1998Gln) c.5043T>A (p.His1681Gln) | |
15 | g.28141571T>A | CA391381499 | HERC2 | c.11876A>T (p.His3959Leu) c.3587A>T (p.His1196Leu) c.11762A>T (p.His3921Leu) c.11861A>T (p.His3954Leu) c.11618A>T (p.His3873Leu) c.11393A>T (p.His3798Leu) c.9392A>T (p.His3131Leu) c.8621A>T (p.His2874Leu) c.5993A>T (p.His1998Leu) c.5042A>T (p.His1681Leu) | |
15 | g.28141571T>C | CA391381500 | HERC2 | c.11876A>G (p.His3959Arg) c.3587A>G (p.His1196Arg) c.11762A>G (p.His3921Arg) c.11861A>G (p.His3954Arg) c.11618A>G (p.His3873Arg) c.11393A>G (p.His3798Arg) c.9392A>G (p.His3131Arg) c.8621A>G (p.His2874Arg) c.5993A>G (p.His1998Arg) c.5042A>G (p.His1681Arg) | |
15 | g.28141571T>G | CA391381502 | HERC2 | c.11876A>C (p.His3959Pro) c.3587A>C (p.His1196Pro) c.11762A>C (p.His3921Pro) c.11861A>C (p.His3954Pro) c.11618A>C (p.His3873Pro) c.11393A>C (p.His3798Pro) c.9392A>C (p.His3131Pro) c.8621A>C (p.His2874Pro) c.5993A>C (p.His1998Pro) c.5042A>C (p.His1681Pro) | |
15 | g.28141572G>A | CA391381504 | HERC2 | c.11875C>T (p.His3959Tyr) c.3586C>T (p.His1196Tyr) c.11761C>T (p.His3921Tyr) c.11860C>T (p.His3954Tyr) c.11617C>T (p.His3873Tyr) c.11392C>T (p.His3798Tyr) c.9391C>T (p.His3131Tyr) c.8620C>T (p.His2874Tyr) c.5992C>T (p.His1998Tyr) c.5041C>T (p.His1681Tyr) | gnomAD v4 |
15 | g.28141572G>C | CA391381505 | HERC2 | c.11875C>G (p.His3959Asp) c.3586C>G (p.His1196Asp) c.11761C>G (p.His3921Asp) c.11860C>G (p.His3954Asp) c.11617C>G (p.His3873Asp) c.11392C>G (p.His3798Asp) c.9391C>G (p.His3131Asp) c.8620C>G (p.His2874Asp) c.5992C>G (p.His1998Asp) c.5041C>G (p.His1681Asp) | |
15 | g.28141572G>T | CA391381507 | HERC2 | c.11875C>A (p.His3959Asn) c.3586C>A (p.His1196Asn) c.11761C>A (p.His3921Asn) c.11860C>A (p.His3954Asn) c.11617C>A (p.His3873Asn) c.11392C>A (p.His3798Asn) c.9391C>A (p.His3131Asn) c.8620C>A (p.His2874Asn) c.5992C>A (p.His1998Asn) c.5041C>A (p.His1681Asn) | |
15 | g.28141573T>A | CA489234784 | HERC2 | c.11874A>T (p.Gly3958=) c.3585A>T (p.Gly1195=) c.11760A>T (p.Gly3920=) c.11859A>T (p.Gly3953=) c.11616A>T (p.Gly3872=) c.11391A>T (p.Gly3797=) c.9390A>T (p.Gly3130=) c.8619A>T (p.Gly2873=) c.5991A>T (p.Gly1997=) c.5040A>T (p.Gly1680=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141573T>C | CA489234782 | HERC2 | c.11874A>G (p.Gly3958=) c.3585A>G (p.Gly1195=) c.11760A>G (p.Gly3920=) c.11859A>G (p.Gly3953=) c.11616A>G (p.Gly3872=) c.11391A>G (p.Gly3797=) c.9390A>G (p.Gly3130=) c.8619A>G (p.Gly2873=) c.5991A>G (p.Gly1997=) c.5040A>G (p.Gly1680=) | |
15 | g.28141573T>G | CA489234783 | HERC2 | c.11874A>C (p.Gly3958=) c.3585A>C (p.Gly1195=) c.11760A>C (p.Gly3920=) c.11859A>C (p.Gly3953=) c.11616A>C (p.Gly3872=) c.11391A>C (p.Gly3797=) c.9390A>C (p.Gly3130=) c.8619A>C (p.Gly2873=) c.5991A>C (p.Gly1997=) c.5040A>C (p.Gly1680=) | |
15 | g.28141573T= | CA2166479928 | HERC2 | c.11874A= (p.Gly3958=) c.3585A= (p.Gly1195=) c.11760A= (p.Gly3920=) c.11859A= (p.Gly3953=) c.11616A= (p.Gly3872=) c.11391A= (p.Gly3797=) c.9390A= (p.Gly3130=) c.8619A= (p.Gly2873=) c.5991A= (p.Gly1997=) c.5040A= (p.Gly1680=) | |
15 | g.28141574C>A | CA391381513 | HERC2 | c.11873G>T (p.Gly3958Val) c.3584G>T (p.Gly1195Val) c.11759G>T (p.Gly3920Val) c.11858G>T (p.Gly3953Val) c.11615G>T (p.Gly3872Val) c.11390G>T (p.Gly3797Val) c.9389G>T (p.Gly3130Val) c.8618G>T (p.Gly2873Val) c.5990G>T (p.Gly1997Val) c.5039G>T (p.Gly1680Val) | gnomAD v4 |
15 | g.28141574C>G | CA391381511 | HERC2 | c.11873G>C (p.Gly3958Ala) c.3584G>C (p.Gly1195Ala) c.11759G>C (p.Gly3920Ala) c.11858G>C (p.Gly3953Ala) c.11615G>C (p.Gly3872Ala) c.11390G>C (p.Gly3797Ala) c.9389G>C (p.Gly3130Ala) c.8618G>C (p.Gly2873Ala) c.5990G>C (p.Gly1997Ala) c.5039G>C (p.Gly1680Ala) | |
15 | g.28141574C>T | CA391381509 | HERC2 | c.11873G>A (p.Gly3958Glu) c.3584G>A (p.Gly1195Glu) c.11759G>A (p.Gly3920Glu) c.11858G>A (p.Gly3953Glu) c.11615G>A (p.Gly3872Glu) c.11390G>A (p.Gly3797Glu) c.9389G>A (p.Gly3130Glu) c.8618G>A (p.Gly2873Glu) c.5990G>A (p.Gly1997Glu) c.5039G>A (p.Gly1680Glu) | |
15 | g.28141575C>A | CA391381515 | HERC2 | c.11872G>T (p.Gly3958Ter) c.3583G>T (p.Gly1195Ter) c.11758G>T (p.Gly3920Ter) c.11857G>T (p.Gly3953Ter) c.11614G>T (p.Gly3872Ter) c.11389G>T (p.Gly3797Ter) c.9388G>T (p.Gly3130Ter) c.8617G>T (p.Gly2873Ter) c.5989G>T (p.Gly1997Ter) c.5038G>T (p.Gly1680Ter) | |
15 | g.28141575C>G | CA391381517 | HERC2 | c.11872G>C (p.Gly3958Arg) c.3583G>C (p.Gly1195Arg) c.11758G>C (p.Gly3920Arg) c.11857G>C (p.Gly3953Arg) c.11614G>C (p.Gly3872Arg) c.11389G>C (p.Gly3797Arg) c.9388G>C (p.Gly3130Arg) c.8617G>C (p.Gly2873Arg) c.5989G>C (p.Gly1997Arg) c.5038G>C (p.Gly1680Arg) | |
15 | g.28141575C>T | CA391381519 | HERC2 | c.11872G>A (p.Gly3958Arg) c.3583G>A (p.Gly1195Arg) c.11758G>A (p.Gly3920Arg) c.11857G>A (p.Gly3953Arg) c.11614G>A (p.Gly3872Arg) c.11389G>A (p.Gly3797Arg) c.9388G>A (p.Gly3130Arg) c.8617G>A (p.Gly2873Arg) c.5989G>A (p.Gly1997Arg) c.5038G>A (p.Gly1680Arg) | |
15 | g.28141576C>A | CA391381521 | HERC2 | c.11871G>T (p.Trp3957Cys) c.3582G>T (p.Trp1194Cys) c.11757G>T (p.Trp3919Cys) c.11856G>T (p.Trp3952Cys) c.11613G>T (p.Trp3871Cys) c.11388G>T (p.Trp3796Cys) c.9387G>T (p.Trp3129Cys) c.8616G>T (p.Trp2872Cys) c.5988G>T (p.Trp1996Cys) c.5037G>T (p.Trp1679Cys) | |
15 | g.28141576C>G | CA391381523 | HERC2 | c.11871G>C (p.Trp3957Cys) c.3582G>C (p.Trp1194Cys) c.11757G>C (p.Trp3919Cys) c.11856G>C (p.Trp3952Cys) c.11613G>C (p.Trp3871Cys) c.11388G>C (p.Trp3796Cys) c.9387G>C (p.Trp3129Cys) c.8616G>C (p.Trp2872Cys) c.5988G>C (p.Trp1996Cys) c.5037G>C (p.Trp1679Cys) | |
15 | g.28141576C>T | CA391381525 | HERC2 | c.11871G>A (p.Trp3957Ter) c.3582G>A (p.Trp1194Ter) c.11757G>A (p.Trp3919Ter) c.11856G>A (p.Trp3952Ter) c.11613G>A (p.Trp3871Ter) c.11388G>A (p.Trp3796Ter) c.9387G>A (p.Trp3129Ter) c.8616G>A (p.Trp2872Ter) c.5988G>A (p.Trp1996Ter) c.5037G>A (p.Trp1679Ter) | |
15 | g.28141577C>A | CA391381527 | HERC2 | c.11870G>T (p.Trp3957Leu) c.3581G>T (p.Trp1194Leu) c.11756G>T (p.Trp3919Leu) c.11855G>T (p.Trp3952Leu) c.11612G>T (p.Trp3871Leu) c.11387G>T (p.Trp3796Leu) c.9386G>T (p.Trp3129Leu) c.8615G>T (p.Trp2872Leu) c.5987G>T (p.Trp1996Leu) c.5036G>T (p.Trp1679Leu) | gnomAD v4 |
15 | g.28141577C>G | CA391381531 | HERC2 | c.11870G>C (p.Trp3957Ser) c.3581G>C (p.Trp1194Ser) c.11756G>C (p.Trp3919Ser) c.11855G>C (p.Trp3952Ser) c.11612G>C (p.Trp3871Ser) c.11387G>C (p.Trp3796Ser) c.9386G>C (p.Trp3129Ser) c.8615G>C (p.Trp2872Ser) c.5987G>C (p.Trp1996Ser) c.5036G>C (p.Trp1679Ser) | |
15 | g.28141577C>T | CA391381529 | HERC2 | c.11870G>A (p.Trp3957Ter) c.3581G>A (p.Trp1194Ter) c.11756G>A (p.Trp3919Ter) c.11855G>A (p.Trp3952Ter) c.11612G>A (p.Trp3871Ter) c.11387G>A (p.Trp3796Ter) c.9386G>A (p.Trp3129Ter) c.8615G>A (p.Trp2872Ter) c.5987G>A (p.Trp1996Ter) c.5036G>A (p.Trp1679Ter) | |
15 | g.28141578A>C | CA391381533 | HERC2 | c.11869T>G (p.Trp3957Gly) c.3580T>G (p.Trp1194Gly) c.11755T>G (p.Trp3919Gly) c.11854T>G (p.Trp3952Gly) c.11611T>G (p.Trp3871Gly) c.11386T>G (p.Trp3796Gly) c.9385T>G (p.Trp3129Gly) c.8614T>G (p.Trp2872Gly) c.5986T>G (p.Trp1996Gly) c.5035T>G (p.Trp1679Gly) | |
15 | g.28141578A>G | CA391381534 | HERC2 | c.11869T>C (p.Trp3957Arg) c.3580T>C (p.Trp1194Arg) c.11755T>C (p.Trp3919Arg) c.11854T>C (p.Trp3952Arg) c.11611T>C (p.Trp3871Arg) c.11386T>C (p.Trp3796Arg) c.9385T>C (p.Trp3129Arg) c.8614T>C (p.Trp2872Arg) c.5986T>C (p.Trp1996Arg) c.5035T>C (p.Trp1679Arg) | |
15 | g.28141578A>T | CA391381535 | HERC2 | c.11869T>A (p.Trp3957Arg) c.3580T>A (p.Trp1194Arg) c.11755T>A (p.Trp3919Arg) c.11854T>A (p.Trp3952Arg) c.11611T>A (p.Trp3871Arg) c.11386T>A (p.Trp3796Arg) c.9385T>A (p.Trp3129Arg) c.8614T>A (p.Trp2872Arg) c.5986T>A (p.Trp1996Arg) c.5035T>A (p.Trp1679Arg) | |
15 | g.28141579T>A | CA7440437 | HERC2 | c.11868A>T (p.Gly3956=) c.3579A>T (p.Gly1193=) c.11754A>T (p.Gly3918=) c.11853A>T (p.Gly3951=) c.11610A>T (p.Gly3870=) c.11385A>T (p.Gly3795=) c.9384A>T (p.Gly3128=) c.8613A>T (p.Gly2871=) c.5985A>T (p.Gly1995=) c.5034A>T (p.Gly1678=) | dbSNP ExAC gnomAD v2 |
15 | g.28141579T>C | CA489234852 | HERC2 | c.11868A>G (p.Gly3956=) c.3579A>G (p.Gly1193=) c.11754A>G (p.Gly3918=) c.11853A>G (p.Gly3951=) c.11610A>G (p.Gly3870=) c.11385A>G (p.Gly3795=) c.9384A>G (p.Gly3128=) c.8613A>G (p.Gly2871=) c.5985A>G (p.Gly1995=) c.5034A>G (p.Gly1678=) | |
15 | g.28141579T>G | CA489234854 | HERC2 | c.11868A>C (p.Gly3956=) c.3579A>C (p.Gly1193=) c.11754A>C (p.Gly3918=) c.11853A>C (p.Gly3951=) c.11610A>C (p.Gly3870=) c.11385A>C (p.Gly3795=) c.9384A>C (p.Gly3128=) c.8613A>C (p.Gly2871=) c.5985A>C (p.Gly1995=) c.5034A>C (p.Gly1678=) | |
15 | g.28141579T= | CA2166479929 | HERC2 | c.11868A= (p.Gly3956=) c.3579A= (p.Gly1193=) c.11754A= (p.Gly3918=) c.11853A= (p.Gly3951=) c.11610A= (p.Gly3870=) c.11385A= (p.Gly3795=) c.9384A= (p.Gly3128=) c.8613A= (p.Gly2871=) c.5985A= (p.Gly1995=) c.5034A= (p.Gly1678=) | |
15 | g.28141580C>A | CA391381537 | HERC2 | c.11867G>T (p.Gly3956Val) c.3578G>T (p.Gly1193Val) c.11753G>T (p.Gly3918Val) c.11852G>T (p.Gly3951Val) c.11609G>T (p.Gly3870Val) c.11384G>T (p.Gly3795Val) c.9383G>T (p.Gly3128Val) c.8612G>T (p.Gly2871Val) c.5984G>T (p.Gly1995Val) c.5033G>T (p.Gly1678Val) | |
15 | g.28141580C>G | CA391381539 | HERC2 | c.11867G>C (p.Gly3956Ala) c.3578G>C (p.Gly1193Ala) c.11753G>C (p.Gly3918Ala) c.11852G>C (p.Gly3951Ala) c.11609G>C (p.Gly3870Ala) c.11384G>C (p.Gly3795Ala) c.9383G>C (p.Gly3128Ala) c.8612G>C (p.Gly2871Ala) c.5984G>C (p.Gly1995Ala) c.5033G>C (p.Gly1678Ala) | |
15 | g.28141580C>T | CA391381540 | HERC2 | c.11867G>A (p.Gly3956Glu) c.3578G>A (p.Gly1193Glu) c.11753G>A (p.Gly3918Glu) c.11852G>A (p.Gly3951Glu) c.11609G>A (p.Gly3870Glu) c.11384G>A (p.Gly3795Glu) c.9383G>A (p.Gly3128Glu) c.8612G>A (p.Gly2871Glu) c.5984G>A (p.Gly1995Glu) c.5033G>A (p.Gly1678Glu) | gnomAD v4 |
15 | g.28141581C>A | CA267946126 | HERC2 | c.11866G>T (p.Gly3956Ter) c.3577G>T (p.Gly1193Ter) c.11752G>T (p.Gly3918Ter) c.11851G>T (p.Gly3951Ter) c.11608G>T (p.Gly3870Ter) c.11383G>T (p.Gly3795Ter) c.9382G>T (p.Gly3128Ter) c.8611G>T (p.Gly2871Ter) c.5983G>T (p.Gly1995Ter) c.5032G>T (p.Gly1678Ter) | dbSNP COSMIC COSMIC |
15 | g.28141581C= | CA2166479932 | HERC2 | c.11866G= (p.Gly3956=) c.3577G= (p.Gly1193=) c.11752G= (p.Gly3918=) c.11851G= (p.Gly3951=) c.11608G= (p.Gly3870=) c.11383G= (p.Gly3795=) c.9382G= (p.Gly3128=) c.8611G= (p.Gly2871=) c.5983G= (p.Gly1995=) c.5032G= (p.Gly1678=) | |
15 | g.28141581C>G | CA391381543 | HERC2 | c.11866G>C (p.Gly3956Arg) c.3577G>C (p.Gly1193Arg) c.11752G>C (p.Gly3918Arg) c.11851G>C (p.Gly3951Arg) c.11608G>C (p.Gly3870Arg) c.11383G>C (p.Gly3795Arg) c.9382G>C (p.Gly3128Arg) c.8611G>C (p.Gly2871Arg) c.5983G>C (p.Gly1995Arg) c.5032G>C (p.Gly1678Arg) | |
15 | g.28141581C>T | CA391381545 | HERC2 | c.11866G>A (p.Gly3956Arg) c.3577G>A (p.Gly1193Arg) c.11752G>A (p.Gly3918Arg) c.11851G>A (p.Gly3951Arg) c.11608G>A (p.Gly3870Arg) c.11383G>A (p.Gly3795Arg) c.9382G>A (p.Gly3128Arg) c.8611G>A (p.Gly2871Arg) c.5983G>A (p.Gly1995Arg) c.5032G>A (p.Gly1678Arg) | |
15 | g.28141582A>C | CA391381546 | HERC2 | c.11865T>G (p.Tyr3955Ter) c.3576T>G (p.Tyr1192Ter) c.11751T>G (p.Tyr3917Ter) c.11850T>G (p.Tyr3950Ter) c.11607T>G (p.Tyr3869Ter) c.11382T>G (p.Tyr3794Ter) c.9381T>G (p.Tyr3127Ter) c.8610T>G (p.Tyr2870Ter) c.5982T>G (p.Tyr1994Ter) c.5031T>G (p.Tyr1677Ter) | |
15 | g.28141582A>G | CA489234864 | HERC2 | c.11865T>C (p.Tyr3955=) c.3576T>C (p.Tyr1192=) c.11751T>C (p.Tyr3917=) c.11850T>C (p.Tyr3950=) c.11607T>C (p.Tyr3869=) c.11382T>C (p.Tyr3794=) c.9381T>C (p.Tyr3127=) c.8610T>C (p.Tyr2870=) c.5982T>C (p.Tyr1994=) c.5031T>C (p.Tyr1677=) | gnomAD v4 |
15 | g.28141582A>T | CA391381548 | HERC2 | c.11865T>A (p.Tyr3955Ter) c.3576T>A (p.Tyr1192Ter) c.11751T>A (p.Tyr3917Ter) c.11850T>A (p.Tyr3950Ter) c.11607T>A (p.Tyr3869Ter) c.11382T>A (p.Tyr3794Ter) c.9381T>A (p.Tyr3127Ter) c.8610T>A (p.Tyr2870Ter) c.5982T>A (p.Tyr1994Ter) c.5031T>A (p.Tyr1677Ter) | |
15 | g.28141583T>A | CA391381551 | HERC2 | c.11864A>T (p.Tyr3955Phe) c.3575A>T (p.Tyr1192Phe) c.11750A>T (p.Tyr3917Phe) c.11849A>T (p.Tyr3950Phe) c.11606A>T (p.Tyr3869Phe) c.11381A>T (p.Tyr3794Phe) c.9380A>T (p.Tyr3127Phe) c.8609A>T (p.Tyr2870Phe) c.5981A>T (p.Tyr1994Phe) c.5030A>T (p.Tyr1677Phe) | gnomAD v4 |
15 | g.28141583T>C | CA391381553 | HERC2 | c.11864A>G (p.Tyr3955Cys) c.3575A>G (p.Tyr1192Cys) c.11750A>G (p.Tyr3917Cys) c.11849A>G (p.Tyr3950Cys) c.11606A>G (p.Tyr3869Cys) c.11381A>G (p.Tyr3794Cys) c.9380A>G (p.Tyr3127Cys) c.8609A>G (p.Tyr2870Cys) c.5981A>G (p.Tyr1994Cys) c.5030A>G (p.Tyr1677Cys) | |
15 | g.28141583T>G | CA391381552 | HERC2 | c.11864A>C (p.Tyr3955Ser) c.3575A>C (p.Tyr1192Ser) c.11750A>C (p.Tyr3917Ser) c.11849A>C (p.Tyr3950Ser) c.11606A>C (p.Tyr3869Ser) c.11381A>C (p.Tyr3794Ser) c.9380A>C (p.Tyr3127Ser) c.8609A>C (p.Tyr2870Ser) c.5981A>C (p.Tyr1994Ser) c.5030A>C (p.Tyr1677Ser) | |
15 | g.28141584A>C | CA391381555 | HERC2 | c.11863T>G (p.Tyr3955Asp) c.3574T>G (p.Tyr1192Asp) c.11749T>G (p.Tyr3917Asp) c.11848T>G (p.Tyr3950Asp) c.11605T>G (p.Tyr3869Asp) c.11380T>G (p.Tyr3794Asp) c.9379T>G (p.Tyr3127Asp) c.8608T>G (p.Tyr2870Asp) c.5980T>G (p.Tyr1994Asp) c.5029T>G (p.Tyr1677Asp) | |
15 | g.28141584A>G | CA391381557 | HERC2 | c.11863T>C (p.Tyr3955His) c.3574T>C (p.Tyr1192His) c.11749T>C (p.Tyr3917His) c.11848T>C (p.Tyr3950His) c.11605T>C (p.Tyr3869His) c.11380T>C (p.Tyr3794His) c.9379T>C (p.Tyr3127His) c.8608T>C (p.Tyr2870His) c.5980T>C (p.Tyr1994His) c.5029T>C (p.Tyr1677His) | |
15 | g.28141584A>T | CA391381559 | HERC2 | c.11863T>A (p.Tyr3955Asn) c.3574T>A (p.Tyr1192Asn) c.11749T>A (p.Tyr3917Asn) c.11848T>A (p.Tyr3950Asn) c.11605T>A (p.Tyr3869Asn) c.11380T>A (p.Tyr3794Asn) c.9379T>A (p.Tyr3127Asn) c.8608T>A (p.Tyr2870Asn) c.5980T>A (p.Tyr1994Asn) c.5029T>A (p.Tyr1677Asn) | |
15 | g.28141585A= | CA2166479934 | HERC2 | c.11862T= (p.Ile3954=) c.3573T= (p.Ile1191=) c.11748T= (p.Ile3916=) c.11847T= (p.Ile3949=) c.11604T= (p.Ile3868=) c.11379T= (p.Ile3793=) c.9378T= (p.Ile3126=) c.8607T= (p.Ile2869=) c.5979T= (p.Ile1993=) c.5028T= (p.Ile1676=) | |
15 | g.28141585A>C | CA391381560 | HERC2 | c.11862T>G (p.Ile3954Met) c.3573T>G (p.Ile1191Met) c.11748T>G (p.Ile3916Met) c.11847T>G (p.Ile3949Met) c.11604T>G (p.Ile3868Met) c.11379T>G (p.Ile3793Met) c.9378T>G (p.Ile3126Met) c.8607T>G (p.Ile2869Met) c.5979T>G (p.Ile1993Met) c.5028T>G (p.Ile1676Met) | |
15 | g.28141585A>G | CA489234868 | HERC2 | c.11862T>C (p.Ile3954=) c.3573T>C (p.Ile1191=) c.11748T>C (p.Ile3916=) c.11847T>C (p.Ile3949=) c.11604T>C (p.Ile3868=) c.11379T>C (p.Ile3793=) c.9378T>C (p.Ile3126=) c.8607T>C (p.Ile2869=) c.5979T>C (p.Ile1993=) c.5028T>C (p.Ile1676=) | |
15 | g.28141585A>T | CA489234870 | HERC2 | c.11862T>A (p.Ile3954=) c.3573T>A (p.Ile1191=) c.11748T>A (p.Ile3916=) c.11847T>A (p.Ile3949=) c.11604T>A (p.Ile3868=) c.11379T>A (p.Ile3793=) c.9378T>A (p.Ile3126=) c.8607T>A (p.Ile2869=) c.5979T>A (p.Ile1993=) c.5028T>A (p.Ile1676=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141586A= | CA2166479935 | HERC2 | c.11861T= (p.Ile3954=) c.3572T= (p.Ile1191=) c.11747T= (p.Ile3916=) c.11846T= (p.Ile3949=) c.11603T= (p.Ile3868=) c.11378T= (p.Ile3793=) c.9377T= (p.Ile3126=) c.8606T= (p.Ile2869=) c.5978T= (p.Ile1993=) c.5027T= (p.Ile1676=) | |
15 | g.28141586A>C | CA391381561 | HERC2 | c.11861T>G (p.Ile3954Ser) c.3572T>G (p.Ile1191Ser) c.11747T>G (p.Ile3916Ser) c.11846T>G (p.Ile3949Ser) c.11603T>G (p.Ile3868Ser) c.11378T>G (p.Ile3793Ser) c.9377T>G (p.Ile3126Ser) c.8606T>G (p.Ile2869Ser) c.5978T>G (p.Ile1993Ser) c.5027T>G (p.Ile1676Ser) | |
15 | g.28141586A>G | CA7440438 | HERC2 | c.11861T>C (p.Ile3954Thr) c.3572T>C (p.Ile1191Thr) c.11747T>C (p.Ile3916Thr) c.11846T>C (p.Ile3949Thr) c.11603T>C (p.Ile3868Thr) c.11378T>C (p.Ile3793Thr) c.9377T>C (p.Ile3126Thr) c.8606T>C (p.Ile2869Thr) c.5978T>C (p.Ile1993Thr) c.5027T>C (p.Ile1676Thr) | dbSNP ExAC gnomAD v4 |
15 | g.28141586A>T | CA391381563 | HERC2 | c.11861T>A (p.Ile3954Asn) c.3572T>A (p.Ile1191Asn) c.11747T>A (p.Ile3916Asn) c.11846T>A (p.Ile3949Asn) c.11603T>A (p.Ile3868Asn) c.11378T>A (p.Ile3793Asn) c.9377T>A (p.Ile3126Asn) c.8606T>A (p.Ile2869Asn) c.5978T>A (p.Ile1993Asn) c.5027T>A (p.Ile1676Asn) | |
15 | g.28141587T>A | CA391381565 | HERC2 | c.11860A>T (p.Ile3954Phe) c.3571A>T (p.Ile1191Phe) c.11746A>T (p.Ile3916Phe) c.11845A>T (p.Ile3949Phe) c.11602A>T (p.Ile3868Phe) c.11377A>T (p.Ile3793Phe) c.9376A>T (p.Ile3126Phe) c.8605A>T (p.Ile2869Phe) c.5977A>T (p.Ile1993Phe) c.5026A>T (p.Ile1676Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141587T>C | CA391381566 | HERC2 | c.11860A>G (p.Ile3954Val) c.3571A>G (p.Ile1191Val) c.11746A>G (p.Ile3916Val) c.11845A>G (p.Ile3949Val) c.11602A>G (p.Ile3868Val) c.11377A>G (p.Ile3793Val) c.9376A>G (p.Ile3126Val) c.8605A>G (p.Ile2869Val) c.5977A>G (p.Ile1993Val) c.5026A>G (p.Ile1676Val) | gnomAD v4 |
15 | g.28141587T>G | CA391381568 | HERC2 | c.11860A>C (p.Ile3954Leu) c.3571A>C (p.Ile1191Leu) c.11746A>C (p.Ile3916Leu) c.11845A>C (p.Ile3949Leu) c.11602A>C (p.Ile3868Leu) c.11377A>C (p.Ile3793Leu) c.9376A>C (p.Ile3126Leu) c.8605A>C (p.Ile2869Leu) c.5977A>C (p.Ile1993Leu) c.5026A>C (p.Ile1676Leu) | |
15 | g.28141587T= | CA2166479938 | HERC2 | c.11860A= (p.Ile3954=) c.3571A= (p.Ile1191=) c.11746A= (p.Ile3916=) c.11845A= (p.Ile3949=) c.11602A= (p.Ile3868=) c.11377A= (p.Ile3793=) c.9376A= (p.Ile3126=) c.8605A= (p.Ile2869=) c.5977A= (p.Ile1993=) c.5026A= (p.Ile1676=) | |
15 | g.28141588T>A | CA489234873 | HERC2 | c.11859A>T (p.Thr3953=) c.3570A>T (p.Thr1190=) c.11745A>T (p.Thr3915=) c.11844A>T (p.Thr3948=) c.11601A>T (p.Thr3867=) c.11376A>T (p.Thr3792=) c.9375A>T (p.Thr3125=) c.8604A>T (p.Thr2868=) c.5976A>T (p.Thr1992=) c.5025A>T (p.Thr1675=) | |
15 | g.28141588T>C | CA489234874 | HERC2 | c.11859A>G (p.Thr3953=) c.3570A>G (p.Thr1190=) c.11745A>G (p.Thr3915=) c.11844A>G (p.Thr3948=) c.11601A>G (p.Thr3867=) c.11376A>G (p.Thr3792=) c.9375A>G (p.Thr3125=) c.8604A>G (p.Thr2868=) c.5976A>G (p.Thr1992=) c.5025A>G (p.Thr1675=) | |
15 | g.28141588T>G | CA489234872 | HERC2 | c.11859A>C (p.Thr3953=) c.3570A>C (p.Thr1190=) c.11745A>C (p.Thr3915=) c.11844A>C (p.Thr3948=) c.11601A>C (p.Thr3867=) c.11376A>C (p.Thr3792=) c.9375A>C (p.Thr3125=) c.8604A>C (p.Thr2868=) c.5976A>C (p.Thr1992=) c.5025A>C (p.Thr1675=) | gnomAD v4 |
15 | g.28141589G>A | CA391381570 | HERC2 | c.11858C>T (p.Thr3953Ile) c.3569C>T (p.Thr1190Ile) c.11744C>T (p.Thr3915Ile) c.11843C>T (p.Thr3948Ile) c.11600C>T (p.Thr3867Ile) c.11375C>T (p.Thr3792Ile) c.9374C>T (p.Thr3125Ile) c.8603C>T (p.Thr2868Ile) c.5975C>T (p.Thr1992Ile) c.5024C>T (p.Thr1675Ile) | |
15 | g.28141589G>C | CA391381572 | HERC2 | c.11858C>G (p.Thr3953Arg) c.3569C>G (p.Thr1190Arg) c.11744C>G (p.Thr3915Arg) c.11843C>G (p.Thr3948Arg) c.11600C>G (p.Thr3867Arg) c.11375C>G (p.Thr3792Arg) c.9374C>G (p.Thr3125Arg) c.8603C>G (p.Thr2868Arg) c.5975C>G (p.Thr1992Arg) c.5024C>G (p.Thr1675Arg) | |
15 | g.28141589G>T | CA391381573 | HERC2 | c.11858C>A (p.Thr3953Lys) c.3569C>A (p.Thr1190Lys) c.11744C>A (p.Thr3915Lys) c.11843C>A (p.Thr3948Lys) c.11600C>A (p.Thr3867Lys) c.11375C>A (p.Thr3792Lys) c.9374C>A (p.Thr3125Lys) c.8603C>A (p.Thr2868Lys) c.5975C>A (p.Thr1992Lys) c.5024C>A (p.Thr1675Lys) | |
15 | g.28141590T>A | CA391381579 | HERC2 | c.11857A>T (p.Thr3953Ser) c.3568A>T (p.Thr1190Ser) c.11743A>T (p.Thr3915Ser) c.11842A>T (p.Thr3948Ser) c.11599A>T (p.Thr3867Ser) c.11374A>T (p.Thr3792Ser) c.9373A>T (p.Thr3125Ser) c.8602A>T (p.Thr2868Ser) c.5974A>T (p.Thr1992Ser) c.5023A>T (p.Thr1675Ser) | |
15 | g.28141590T>C | CA391381576 | HERC2 | c.11857A>G (p.Thr3953Ala) c.3568A>G (p.Thr1190Ala) c.11743A>G (p.Thr3915Ala) c.11842A>G (p.Thr3948Ala) c.11599A>G (p.Thr3867Ala) c.11374A>G (p.Thr3792Ala) c.9373A>G (p.Thr3125Ala) c.8602A>G (p.Thr2868Ala) c.5974A>G (p.Thr1992Ala) c.5023A>G (p.Thr1675Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141590T>G | CA391381578 | HERC2 | c.11857A>C (p.Thr3953Pro) c.3568A>C (p.Thr1190Pro) c.11743A>C (p.Thr3915Pro) c.11842A>C (p.Thr3948Pro) c.11599A>C (p.Thr3867Pro) c.11374A>C (p.Thr3792Pro) c.9373A>C (p.Thr3125Pro) c.8602A>C (p.Thr2868Pro) c.5974A>C (p.Thr1992Pro) c.5023A>C (p.Thr1675Pro) | |
15 | g.28141590T= | CA2166479940 | HERC2 | c.11857A= (p.Thr3953=) c.3568A= (p.Thr1190=) c.11743A= (p.Thr3915=) c.11842A= (p.Thr3948=) c.11599A= (p.Thr3867=) c.11374A= (p.Thr3792=) c.9373A= (p.Thr3125=) c.8602A= (p.Thr2868=) c.5974A= (p.Thr1992=) c.5023A= (p.Thr1675=) | |
15 | g.28141591T>A | CA489234878 | HERC2 | c.11856A>T (p.Gly3952=) c.3567A>T (p.Gly1189=) c.11742A>T (p.Gly3914=) c.11841A>T (p.Gly3947=) c.11598A>T (p.Gly3866=) c.11373A>T (p.Gly3791=) c.9372A>T (p.Gly3124=) c.8601A>T (p.Gly2867=) c.5973A>T (p.Gly1991=) c.5022A>T (p.Gly1674=) | |
15 | g.28141591T>C | CA489234879 | HERC2 | c.11856A>G (p.Gly3952=) c.3567A>G (p.Gly1189=) c.11742A>G (p.Gly3914=) c.11841A>G (p.Gly3947=) c.11598A>G (p.Gly3866=) c.11373A>G (p.Gly3791=) c.9372A>G (p.Gly3124=) c.8601A>G (p.Gly2867=) c.5973A>G (p.Gly1991=) c.5022A>G (p.Gly1674=) | |
15 | g.28141591T>G | CA489234880 | HERC2 | c.11856A>C (p.Gly3952=) c.3567A>C (p.Gly1189=) c.11742A>C (p.Gly3914=) c.11841A>C (p.Gly3947=) c.11598A>C (p.Gly3866=) c.11373A>C (p.Gly3791=) c.9372A>C (p.Gly3124=) c.8601A>C (p.Gly2867=) c.5973A>C (p.Gly1991=) c.5022A>C (p.Gly1674=) | |
15 | g.28141592C>A | CA391381581 | HERC2 | c.11855G>T (p.Gly3952Val) c.3566G>T (p.Gly1189Val) c.11741G>T (p.Gly3914Val) c.11840G>T (p.Gly3947Val) c.11597G>T (p.Gly3866Val) c.11372G>T (p.Gly3791Val) c.9371G>T (p.Gly3124Val) c.8600G>T (p.Gly2867Val) c.5972G>T (p.Gly1991Val) c.5021G>T (p.Gly1674Val) | |
15 | g.28141592C>G | CA391381583 | HERC2 | c.11855G>C (p.Gly3952Ala) c.3566G>C (p.Gly1189Ala) c.11741G>C (p.Gly3914Ala) c.11840G>C (p.Gly3947Ala) c.11597G>C (p.Gly3866Ala) c.11372G>C (p.Gly3791Ala) c.9371G>C (p.Gly3124Ala) c.8600G>C (p.Gly2867Ala) c.5972G>C (p.Gly1991Ala) c.5021G>C (p.Gly1674Ala) | |
15 | g.28141592C>T | CA391381585 | HERC2 | c.11855G>A (p.Gly3952Glu) c.3566G>A (p.Gly1189Glu) c.11741G>A (p.Gly3914Glu) c.11840G>A (p.Gly3947Glu) c.11597G>A (p.Gly3866Glu) c.11372G>A (p.Gly3791Glu) c.9371G>A (p.Gly3124Glu) c.8600G>A (p.Gly2867Glu) c.5972G>A (p.Gly1991Glu) c.5021G>A (p.Gly1674Glu) | |
15 | g.28141593C>A | CA391381586 | HERC2 | c.11854G>T (p.Gly3952Ter) c.3565G>T (p.Gly1189Ter) c.11740G>T (p.Gly3914Ter) c.11839G>T (p.Gly3947Ter) c.11596G>T (p.Gly3866Ter) c.11371G>T (p.Gly3791Ter) c.9370G>T (p.Gly3124Ter) c.8599G>T (p.Gly2867Ter) c.5971G>T (p.Gly1991Ter) c.5020G>T (p.Gly1674Ter) | COSMIC |
15 | g.28141593C>G | CA391381588 | HERC2 | c.11854G>C (p.Gly3952Arg) c.3565G>C (p.Gly1189Arg) c.11740G>C (p.Gly3914Arg) c.11839G>C (p.Gly3947Arg) c.11596G>C (p.Gly3866Arg) c.11371G>C (p.Gly3791Arg) c.9370G>C (p.Gly3124Arg) c.8599G>C (p.Gly2867Arg) c.5971G>C (p.Gly1991Arg) c.5020G>C (p.Gly1674Arg) | |
15 | g.28141593C>T | CA391381590 | HERC2 | c.11854G>A (p.Gly3952Arg) c.3565G>A (p.Gly1189Arg) c.11740G>A (p.Gly3914Arg) c.11839G>A (p.Gly3947Arg) c.11596G>A (p.Gly3866Arg) c.11371G>A (p.Gly3791Arg) c.9370G>A (p.Gly3124Arg) c.8599G>A (p.Gly2867Arg) c.5971G>A (p.Gly1991Arg) c.5020G>A (p.Gly1674Arg) | |
15 | g.28141594A>C | CA391381592 | HERC2 | c.11853T>G (p.Ser3951Arg) c.3564T>G (p.Ser1188Arg) c.11739T>G (p.Ser3913Arg) c.11838T>G (p.Ser3946Arg) c.11595T>G (p.Ser3865Arg) c.11370T>G (p.Ser3790Arg) c.9369T>G (p.Ser3123Arg) c.8598T>G (p.Ser2866Arg) c.5970T>G (p.Ser1990Arg) c.5019T>G (p.Ser1673Arg) | |
15 | g.28141594A>G | CA489234886 | HERC2 | c.11853T>C (p.Ser3951=) c.3564T>C (p.Ser1188=) c.11739T>C (p.Ser3913=) c.11838T>C (p.Ser3946=) c.11595T>C (p.Ser3865=) c.11370T>C (p.Ser3790=) c.9369T>C (p.Ser3123=) c.8598T>C (p.Ser2866=) c.5970T>C (p.Ser1990=) c.5019T>C (p.Ser1673=) | |
15 | g.28141594A>T | CA391381593 | HERC2 | c.11853T>A (p.Ser3951Arg) c.3564T>A (p.Ser1188Arg) c.11739T>A (p.Ser3913Arg) c.11838T>A (p.Ser3946Arg) c.11595T>A (p.Ser3865Arg) c.11370T>A (p.Ser3790Arg) c.9369T>A (p.Ser3123Arg) c.8598T>A (p.Ser2866Arg) c.5970T>A (p.Ser1990Arg) c.5019T>A (p.Ser1673Arg) | |
15 | g.28141595C>A | CA391381595 | HERC2 | c.11852G>T (p.Ser3951Ile) c.3563G>T (p.Ser1188Ile) c.11738G>T (p.Ser3913Ile) c.11837G>T (p.Ser3946Ile) c.11594G>T (p.Ser3865Ile) c.11369G>T (p.Ser3790Ile) c.9368G>T (p.Ser3123Ile) c.8597G>T (p.Ser2866Ile) c.5969G>T (p.Ser1990Ile) c.5018G>T (p.Ser1673Ile) | |
15 | g.28141595C>G | CA391381597 | HERC2 | c.11852G>C (p.Ser3951Thr) c.3563G>C (p.Ser1188Thr) c.11738G>C (p.Ser3913Thr) c.11837G>C (p.Ser3946Thr) c.11594G>C (p.Ser3865Thr) c.11369G>C (p.Ser3790Thr) c.9368G>C (p.Ser3123Thr) c.8597G>C (p.Ser2866Thr) c.5969G>C (p.Ser1990Thr) c.5018G>C (p.Ser1673Thr) | |
15 | g.28141595C>T | CA391381598 | HERC2 | c.11852G>A (p.Ser3951Asn) c.3563G>A (p.Ser1188Asn) c.11738G>A (p.Ser3913Asn) c.11837G>A (p.Ser3946Asn) c.11594G>A (p.Ser3865Asn) c.11369G>A (p.Ser3790Asn) c.9368G>A (p.Ser3123Asn) c.8597G>A (p.Ser2866Asn) c.5969G>A (p.Ser1990Asn) c.5018G>A (p.Ser1673Asn) | gnomAD v4 |
15 | g.28141596_28141598dup | CA2627386249 | HERC2 | c.11850_11852dup (p.Ser3951_Gly3952insSer) c.3561_3563dup (p.Ser1188_Gly1189insSer) c.11736_11738dup (p.Ser3913_Gly3914insSer) c.11835_11837dup (p.Ser3946_Gly3947insSer) c.11592_11594dup (p.Ser3865_Gly3866insSer) c.11367_11369dup (p.Ser3790_Gly3791insSer) c.9366_9368dup (p.Ser3123_Gly3124insSer) c.8595_8597dup (p.Ser2866_Gly2867insSer) c.5967_5969dup (p.Ser1990_Gly1991insSer) c.5016_5018dup (p.Ser1673_Gly1674insSer) | gnomAD v4 |
15 | g.28141596T>A | CA391381601 | HERC2 | c.11851A>T (p.Ser3951Cys) c.3562A>T (p.Ser1188Cys) c.11737A>T (p.Ser3913Cys) c.11836A>T (p.Ser3946Cys) c.11593A>T (p.Ser3865Cys) c.11368A>T (p.Ser3790Cys) c.9367A>T (p.Ser3123Cys) c.8596A>T (p.Ser2866Cys) c.5968A>T (p.Ser1990Cys) c.5017A>T (p.Ser1673Cys) | |
15 | g.28141596T>C | CA391381604 | HERC2 | c.11851A>G (p.Ser3951Gly) c.3562A>G (p.Ser1188Gly) c.11737A>G (p.Ser3913Gly) c.11836A>G (p.Ser3946Gly) c.11593A>G (p.Ser3865Gly) c.11368A>G (p.Ser3790Gly) c.9367A>G (p.Ser3123Gly) c.8596A>G (p.Ser2866Gly) c.5968A>G (p.Ser1990Gly) c.5017A>G (p.Ser1673Gly) | |
15 | g.28141596T>G | CA391381602 | HERC2 | c.11851A>C (p.Ser3951Arg) c.3562A>C (p.Ser1188Arg) c.11737A>C (p.Ser3913Arg) c.11836A>C (p.Ser3946Arg) c.11593A>C (p.Ser3865Arg) c.11368A>C (p.Ser3790Arg) c.9367A>C (p.Ser3123Arg) c.8596A>C (p.Ser2866Arg) c.5968A>C (p.Ser1990Arg) c.5017A>C (p.Ser1673Arg) | |
15 | g.28141597G>A | CA489234894 | HERC2 | c.11850C>T (p.Gly3950=) c.3561C>T (p.Gly1187=) c.11736C>T (p.Gly3912=) c.11835C>T (p.Gly3945=) c.11592C>T (p.Gly3864=) c.11367C>T (p.Gly3789=) c.9366C>T (p.Gly3122=) c.8595C>T (p.Gly2865=) c.5967C>T (p.Gly1989=) c.5016C>T (p.Gly1672=) | |
15 | g.28141597G>C | CA489234895 | HERC2 | c.11850C>G (p.Gly3950=) c.3561C>G (p.Gly1187=) c.11736C>G (p.Gly3912=) c.11835C>G (p.Gly3945=) c.11592C>G (p.Gly3864=) c.11367C>G (p.Gly3789=) c.9366C>G (p.Gly3122=) c.8595C>G (p.Gly2865=) c.5967C>G (p.Gly1989=) c.5016C>G (p.Gly1672=) | |
15 | g.28141597G>T | CA489234896 | HERC2 | c.11850C>A (p.Gly3950=) c.3561C>A (p.Gly1187=) c.11736C>A (p.Gly3912=) c.11835C>A (p.Gly3945=) c.11592C>A (p.Gly3864=) c.11367C>A (p.Gly3789=) c.9366C>A (p.Gly3122=) c.8595C>A (p.Gly2865=) c.5967C>A (p.Gly1989=) c.5016C>A (p.Gly1672=) | |
15 | g.28141598C>A | CA391381606 | HERC2 | c.11849G>T (p.Gly3950Val) c.3560G>T (p.Gly1187Val) c.11735G>T (p.Gly3912Val) c.11834G>T (p.Gly3945Val) c.11591G>T (p.Gly3864Val) c.11366G>T (p.Gly3789Val) c.9365G>T (p.Gly3122Val) c.8594G>T (p.Gly2865Val) c.5966G>T (p.Gly1989Val) c.5015G>T (p.Gly1672Val) | |
15 | g.28141598C>G | CA391381608 | HERC2 | c.11849G>C (p.Gly3950Ala) c.3560G>C (p.Gly1187Ala) c.11735G>C (p.Gly3912Ala) c.11834G>C (p.Gly3945Ala) c.11591G>C (p.Gly3864Ala) c.11366G>C (p.Gly3789Ala) c.9365G>C (p.Gly3122Ala) c.8594G>C (p.Gly2865Ala) c.5966G>C (p.Gly1989Ala) c.5015G>C (p.Gly1672Ala) | |
15 | g.28141598C>T | CA391381610 | HERC2 | c.11849G>A (p.Gly3950Asp) c.3560G>A (p.Gly1187Asp) c.11735G>A (p.Gly3912Asp) c.11834G>A (p.Gly3945Asp) c.11591G>A (p.Gly3864Asp) c.11366G>A (p.Gly3789Asp) c.9365G>A (p.Gly3122Asp) c.8594G>A (p.Gly2865Asp) c.5966G>A (p.Gly1989Asp) c.5015G>A (p.Gly1672Asp) | |
15 | g.28141599C>A | CA391381612 | HERC2 | c.11848G>T (p.Gly3950Cys) c.3559G>T (p.Gly1187Cys) c.11734G>T (p.Gly3912Cys) c.11833G>T (p.Gly3945Cys) c.11590G>T (p.Gly3864Cys) c.11365G>T (p.Gly3789Cys) c.9364G>T (p.Gly3122Cys) c.8593G>T (p.Gly2865Cys) c.5965G>T (p.Gly1989Cys) c.5014G>T (p.Gly1672Cys) | |
15 | g.28141599C>G | CA391381613 | HERC2 | c.11848G>C (p.Gly3950Arg) c.3559G>C (p.Gly1187Arg) c.11734G>C (p.Gly3912Arg) c.11833G>C (p.Gly3945Arg) c.11590G>C (p.Gly3864Arg) c.11365G>C (p.Gly3789Arg) c.9364G>C (p.Gly3122Arg) c.8593G>C (p.Gly2865Arg) c.5965G>C (p.Gly1989Arg) c.5014G>C (p.Gly1672Arg) | |
15 | g.28141599C>T | CA391381615 | HERC2 | c.11848G>A (p.Gly3950Ser) c.3559G>A (p.Gly1187Ser) c.11734G>A (p.Gly3912Ser) c.11833G>A (p.Gly3945Ser) c.11590G>A (p.Gly3864Ser) c.11365G>A (p.Gly3789Ser) c.9364G>A (p.Gly3122Ser) c.8593G>A (p.Gly2865Ser) c.5965G>A (p.Gly1989Ser) c.5014G>A (p.Gly1672Ser) | |
15 | g.28141600A= | CA2166479943 | HERC2 | c.11847T= (p.Gly3949=) c.3558T= (p.Gly1186=) c.11733T= (p.Gly3911=) c.11832T= (p.Gly3944=) c.11589T= (p.Gly3863=) c.11364T= (p.Gly3788=) c.9363T= (p.Gly3121=) c.8592T= (p.Gly2864=) c.5964T= (p.Gly1988=) c.5013T= (p.Gly1671=) | |
15 | g.28141600A>C | CA489234901 | HERC2 | c.11847T>G (p.Gly3949=) c.3558T>G (p.Gly1186=) c.11733T>G (p.Gly3911=) c.11832T>G (p.Gly3944=) c.11589T>G (p.Gly3863=) c.11364T>G (p.Gly3788=) c.9363T>G (p.Gly3121=) c.8592T>G (p.Gly2864=) c.5964T>G (p.Gly1988=) c.5013T>G (p.Gly1671=) | |
15 | g.28141600A>G | CA489234903 | HERC2 | c.11847T>C (p.Gly3949=) c.3558T>C (p.Gly1186=) c.11733T>C (p.Gly3911=) c.11832T>C (p.Gly3944=) c.11589T>C (p.Gly3863=) c.11364T>C (p.Gly3788=) c.9363T>C (p.Gly3121=) c.8592T>C (p.Gly2864=) c.5964T>C (p.Gly1988=) c.5013T>C (p.Gly1671=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141600A>T | CA489234902 | HERC2 | c.11847T>A (p.Gly3949=) c.3558T>A (p.Gly1186=) c.11733T>A (p.Gly3911=) c.11832T>A (p.Gly3944=) c.11589T>A (p.Gly3863=) c.11364T>A (p.Gly3788=) c.9363T>A (p.Gly3121=) c.8592T>A (p.Gly2864=) c.5964T>A (p.Gly1988=) c.5013T>A (p.Gly1671=) | |
15 | g.28141601C>A | CA391381617 | HERC2 | c.11846G>T (p.Gly3949Val) c.3557G>T (p.Gly1186Val) c.11732G>T (p.Gly3911Val) c.11831G>T (p.Gly3944Val) c.11588G>T (p.Gly3863Val) c.11363G>T (p.Gly3788Val) c.9362G>T (p.Gly3121Val) c.8591G>T (p.Gly2864Val) c.5963G>T (p.Gly1988Val) c.5012G>T (p.Gly1671Val) | gnomAD v4 |
15 | g.28141601C= | CA2166479945 | HERC2 | c.11846G= (p.Gly3949=) c.3557G= (p.Gly1186=) c.11732G= (p.Gly3911=) c.11831G= (p.Gly3944=) c.11588G= (p.Gly3863=) c.11363G= (p.Gly3788=) c.9362G= (p.Gly3121=) c.8591G= (p.Gly2864=) c.5963G= (p.Gly1988=) c.5012G= (p.Gly1671=) | |
15 | g.28141601C>G | CA391381619 | HERC2 | c.11846G>C (p.Gly3949Ala) c.3557G>C (p.Gly1186Ala) c.11732G>C (p.Gly3911Ala) c.11831G>C (p.Gly3944Ala) c.11588G>C (p.Gly3863Ala) c.11363G>C (p.Gly3788Ala) c.9362G>C (p.Gly3121Ala) c.8591G>C (p.Gly2864Ala) c.5963G>C (p.Gly1988Ala) c.5012G>C (p.Gly1671Ala) | dbSNP gnomAD v2 |
15 | g.28141601C>T | CA391381621 | HERC2 | c.11846G>A (p.Gly3949Asp) c.3557G>A (p.Gly1186Asp) c.11732G>A (p.Gly3911Asp) c.11831G>A (p.Gly3944Asp) c.11588G>A (p.Gly3863Asp) c.11363G>A (p.Gly3788Asp) c.9362G>A (p.Gly3121Asp) c.8591G>A (p.Gly2864Asp) c.5963G>A (p.Gly1988Asp) c.5012G>A (p.Gly1671Asp) | |
15 | g.28141602C>A | CA7440439 | HERC2 | c.11845G>T (p.Gly3949Cys) c.3556G>T (p.Gly1186Cys) c.11731G>T (p.Gly3911Cys) c.11830G>T (p.Gly3944Cys) c.11587G>T (p.Gly3863Cys) c.11362G>T (p.Gly3788Cys) c.9361G>T (p.Gly3121Cys) c.8590G>T (p.Gly2864Cys) c.5962G>T (p.Gly1988Cys) c.5011G>T (p.Gly1671Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141602C= | CA2166479947 | HERC2 | c.11845G= (p.Gly3949=) c.3556G= (p.Gly1186=) c.11731G= (p.Gly3911=) c.11830G= (p.Gly3944=) c.11587G= (p.Gly3863=) c.11362G= (p.Gly3788=) c.9361G= (p.Gly3121=) c.8590G= (p.Gly2864=) c.5962G= (p.Gly1988=) c.5011G= (p.Gly1671=) | |
15 | g.28141602C>G | CA391381623 | HERC2 | c.11845G>C (p.Gly3949Arg) c.3556G>C (p.Gly1186Arg) c.11731G>C (p.Gly3911Arg) c.11830G>C (p.Gly3944Arg) c.11587G>C (p.Gly3863Arg) c.11362G>C (p.Gly3788Arg) c.9361G>C (p.Gly3121Arg) c.8590G>C (p.Gly2864Arg) c.5962G>C (p.Gly1988Arg) c.5011G>C (p.Gly1671Arg) | |
15 | g.28141602C>T | CA391381625 | HERC2 | c.11845G>A (p.Gly3949Ser) c.3556G>A (p.Gly1186Ser) c.11731G>A (p.Gly3911Ser) c.11830G>A (p.Gly3944Ser) c.11587G>A (p.Gly3863Ser) c.11362G>A (p.Gly3788Ser) c.9361G>A (p.Gly3121Ser) c.8590G>A (p.Gly2864Ser) c.5962G>A (p.Gly1988Ser) c.5011G>A (p.Gly1671Ser) | |
15 | g.28141603A= | CA2166479949 | HERC2 | c.11844T= (p.Ala3948=) c.3555T= (p.Ala1185=) c.11730T= (p.Ala3910=) c.11829T= (p.Ala3943=) c.11586T= (p.Ala3862=) c.11361T= (p.Ala3787=) c.9360T= (p.Ala3120=) c.8589T= (p.Ala2863=) c.5961T= (p.Ala1987=) c.5010T= (p.Ala1670=) | |
15 | g.28141603A>C | CA489234909 | HERC2 | c.11844T>G (p.Ala3948=) c.3555T>G (p.Ala1185=) c.11730T>G (p.Ala3910=) c.11829T>G (p.Ala3943=) c.11586T>G (p.Ala3862=) c.11361T>G (p.Ala3787=) c.9360T>G (p.Ala3120=) c.8589T>G (p.Ala2863=) c.5961T>G (p.Ala1987=) c.5010T>G (p.Ala1670=) | |
15 | g.28141603A>G | CA7440440 | HERC2 | c.11844T>C (p.Ala3948=) c.3555T>C (p.Ala1185=) c.11730T>C (p.Ala3910=) c.11829T>C (p.Ala3943=) c.11586T>C (p.Ala3862=) c.11361T>C (p.Ala3787=) c.9360T>C (p.Ala3120=) c.8589T>C (p.Ala2863=) c.5961T>C (p.Ala1987=) c.5010T>C (p.Ala1670=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141603A>T | CA489234910 | HERC2 | c.11844T>A (p.Ala3948=) c.3555T>A (p.Ala1185=) c.11730T>A (p.Ala3910=) c.11829T>A (p.Ala3943=) c.11586T>A (p.Ala3862=) c.11361T>A (p.Ala3787=) c.9360T>A (p.Ala3120=) c.8589T>A (p.Ala2863=) c.5961T>A (p.Ala1987=) c.5010T>A (p.Ala1670=) | |
15 | g.28141604G>A | CA391381632 | HERC2 | c.11843C>T (p.Ala3948Val) c.3554C>T (p.Ala1185Val) c.11729C>T (p.Ala3910Val) c.11828C>T (p.Ala3943Val) c.11585C>T (p.Ala3862Val) c.11360C>T (p.Ala3787Val) c.9359C>T (p.Ala3120Val) c.8588C>T (p.Ala2863Val) c.5960C>T (p.Ala1987Val) c.5009C>T (p.Ala1670Val) | |
15 | g.28141604G>C | CA391381630 | HERC2 | c.11843C>G (p.Ala3948Gly) c.3554C>G (p.Ala1185Gly) c.11729C>G (p.Ala3910Gly) c.11828C>G (p.Ala3943Gly) c.11585C>G (p.Ala3862Gly) c.11360C>G (p.Ala3787Gly) c.9359C>G (p.Ala3120Gly) c.8588C>G (p.Ala2863Gly) c.5960C>G (p.Ala1987Gly) c.5009C>G (p.Ala1670Gly) | |
15 | g.28141604G>T | CA391381628 | HERC2 | c.11843C>A (p.Ala3948Asp) c.3554C>A (p.Ala1185Asp) c.11729C>A (p.Ala3910Asp) c.11828C>A (p.Ala3943Asp) c.11585C>A (p.Ala3862Asp) c.11360C>A (p.Ala3787Asp) c.9359C>A (p.Ala3120Asp) c.8588C>A (p.Ala2863Asp) c.5960C>A (p.Ala1987Asp) c.5009C>A (p.Ala1670Asp) | |
15 | g.28141605C>A | CA391381634 | HERC2 | c.11842G>T (p.Ala3948Ser) c.3553G>T (p.Ala1185Ser) c.11728G>T (p.Ala3910Ser) c.11827G>T (p.Ala3943Ser) c.11584G>T (p.Ala3862Ser) c.11359G>T (p.Ala3787Ser) c.9358G>T (p.Ala3120Ser) c.8587G>T (p.Ala2863Ser) c.5959G>T (p.Ala1987Ser) c.5008G>T (p.Ala1670Ser) | dbSNP |
15 | g.28141605C>G | CA391381636 | HERC2 | c.11842G>C (p.Ala3948Pro) c.3553G>C (p.Ala1185Pro) c.11728G>C (p.Ala3910Pro) c.11827G>C (p.Ala3943Pro) c.11584G>C (p.Ala3862Pro) c.11359G>C (p.Ala3787Pro) c.9358G>C (p.Ala3120Pro) c.8587G>C (p.Ala2863Pro) c.5959G>C (p.Ala1987Pro) c.5008G>C (p.Ala1670Pro) | |
15 | g.28141605C>T | CA391381637 | HERC2 | c.11842G>A (p.Ala3948Thr) c.3553G>A (p.Ala1185Thr) c.11728G>A (p.Ala3910Thr) c.11827G>A (p.Ala3943Thr) c.11584G>A (p.Ala3862Thr) c.11359G>A (p.Ala3787Thr) c.9358G>A (p.Ala3120Thr) c.8587G>A (p.Ala2863Thr) c.5959G>A (p.Ala1987Thr) c.5008G>A (p.Ala1670Thr) | |
15 | g.28141605_28141607delinsCAG | CA2166479952 | HERC2 | c.11840_11842delinsCTG (p.Ser3947=) c.3551_3553delinsCTG (p.Ser1184=) c.11726_11728delinsCTG (p.Ser3909=) c.11825_11827delinsCTG (p.Ser3942=) c.11582_11584delinsCTG (p.Ser3861=) c.11357_11359delinsCTG (p.Ser3786=) c.9356_9358delinsCTG (p.Ser3119=) c.8585_8587delinsCTG (p.Ser2862=) c.5957_5959delinsCTG (p.Ser1986=) c.5006_5008delinsCTG (p.Ser1669=) | |
15 | g.28141606A>C | CA489234925 | HERC2 | c.11841T>G (p.Ser3947=) c.3552T>G (p.Ser1184=) c.11727T>G (p.Ser3909=) c.11826T>G (p.Ser3942=) c.11583T>G (p.Ser3861=) c.11358T>G (p.Ser3786=) c.9357T>G (p.Ser3119=) c.8586T>G (p.Ser2862=) c.5958T>G (p.Ser1986=) c.5007T>G (p.Ser1669=) | |
15 | g.28141606A>G | CA489234923 | HERC2 | c.11841T>C (p.Ser3947=) c.3552T>C (p.Ser1184=) c.11727T>C (p.Ser3909=) c.11826T>C (p.Ser3942=) c.11583T>C (p.Ser3861=) c.11358T>C (p.Ser3786=) c.9357T>C (p.Ser3119=) c.8586T>C (p.Ser2862=) c.5958T>C (p.Ser1986=) c.5007T>C (p.Ser1669=) | |
15 | g.28141606A>T | CA489234921 | HERC2 | c.11841T>A (p.Ser3947=) c.3552T>A (p.Ser1184=) c.11727T>A (p.Ser3909=) c.11826T>A (p.Ser3942=) c.11583T>A (p.Ser3861=) c.11358T>A (p.Ser3786=) c.9357T>A (p.Ser3119=) c.8586T>A (p.Ser2862=) c.5958T>A (p.Ser1986=) c.5007T>A (p.Ser1669=) | |
15 | g.28141612_28141613del | CA489234922 | HERC2 | c.11840_11841del (p.Ser3947CysfsTer13) c.3551_3552del (p.Ser1184CysfsTer13) c.11726_11727del (p.Ser3909CysfsTer13) c.11825_11826del (p.Ser3942CysfsTer13) c.11582_11583del (p.Ser3861CysfsTer13) c.11357_11358del (p.Ser3786CysfsTer13) c.9356_9357del (p.Ser3119CysfsTer13) c.8585_8586del (p.Ser2862CysfsTer13) c.5957_5958del (p.Ser1986CysfsTer13) c.5006_5007del (p.Ser1669CysfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.28141607G>A | CA391381639 | HERC2 | c.11840C>T (p.Ser3947Phe) c.3551C>T (p.Ser1184Phe) c.11726C>T (p.Ser3909Phe) c.11825C>T (p.Ser3942Phe) c.11582C>T (p.Ser3861Phe) c.11357C>T (p.Ser3786Phe) c.9356C>T (p.Ser3119Phe) c.8585C>T (p.Ser2862Phe) c.5957C>T (p.Ser1986Phe) c.5006C>T (p.Ser1669Phe) | |
15 | g.28141607G>C | CA391381641 | HERC2 | c.11840C>G (p.Ser3947Cys) c.3551C>G (p.Ser1184Cys) c.11726C>G (p.Ser3909Cys) c.11825C>G (p.Ser3942Cys) c.11582C>G (p.Ser3861Cys) c.11357C>G (p.Ser3786Cys) c.9356C>G (p.Ser3119Cys) c.8585C>G (p.Ser2862Cys) c.5957C>G (p.Ser1986Cys) c.5006C>G (p.Ser1669Cys) | gnomAD v4 |
15 | g.28141607G>T | CA391381643 | HERC2 | c.11840C>A (p.Ser3947Tyr) c.3551C>A (p.Ser1184Tyr) c.11726C>A (p.Ser3909Tyr) c.11825C>A (p.Ser3942Tyr) c.11582C>A (p.Ser3861Tyr) c.11357C>A (p.Ser3786Tyr) c.9356C>A (p.Ser3119Tyr) c.8585C>A (p.Ser2862Tyr) c.5957C>A (p.Ser1986Tyr) c.5006C>A (p.Ser1669Tyr) | |
15 | g.28141608A>C | CA391381645 | HERC2 | c.11839T>G (p.Ser3947Ala) c.3550T>G (p.Ser1184Ala) c.11725T>G (p.Ser3909Ala) c.11824T>G (p.Ser3942Ala) c.11581T>G (p.Ser3861Ala) c.11356T>G (p.Ser3786Ala) c.9355T>G (p.Ser3119Ala) c.8584T>G (p.Ser2862Ala) c.5956T>G (p.Ser1986Ala) c.5005T>G (p.Ser1669Ala) | |
15 | g.28141608A>G | CA391381646 | HERC2 | c.11839T>C (p.Ser3947Pro) c.3550T>C (p.Ser1184Pro) c.11725T>C (p.Ser3909Pro) c.11824T>C (p.Ser3942Pro) c.11581T>C (p.Ser3861Pro) c.11356T>C (p.Ser3786Pro) c.9355T>C (p.Ser3119Pro) c.8584T>C (p.Ser2862Pro) c.5956T>C (p.Ser1986Pro) c.5005T>C (p.Ser1669Pro) | gnomAD v4 |
15 | g.28141608A>T | CA391381648 | HERC2 | c.11839T>A (p.Ser3947Thr) c.3550T>A (p.Ser1184Thr) c.11725T>A (p.Ser3909Thr) c.11824T>A (p.Ser3942Thr) c.11581T>A (p.Ser3861Thr) c.11356T>A (p.Ser3786Thr) c.9355T>A (p.Ser3119Thr) c.8584T>A (p.Ser2862Thr) c.5956T>A (p.Ser1986Thr) c.5005T>A (p.Ser1669Thr) | gnomAD v4 |
15 | g.28141609G>A | CA7440441 | HERC2 | c.11838C>T (p.Leu3946=) c.3549C>T (p.Leu1183=) c.11724C>T (p.Leu3908=) c.11823C>T (p.Leu3941=) c.11580C>T (p.Leu3860=) c.11355C>T (p.Leu3785=) c.9354C>T (p.Leu3118=) c.8583C>T (p.Leu2861=) c.5955C>T (p.Leu1985=) c.5004C>T (p.Leu1668=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141609G>C | CA489234934 | HERC2 | c.11838C>G (p.Leu3946=) c.3549C>G (p.Leu1183=) c.11724C>G (p.Leu3908=) c.11823C>G (p.Leu3941=) c.11580C>G (p.Leu3860=) c.11355C>G (p.Leu3785=) c.9354C>G (p.Leu3118=) c.8583C>G (p.Leu2861=) c.5955C>G (p.Leu1985=) c.5004C>G (p.Leu1668=) | |
15 | g.28141609G= | CA2166479955 | HERC2 | c.11838C= (p.Leu3946=) c.3549C= (p.Leu1183=) c.11724C= (p.Leu3908=) c.11823C= (p.Leu3941=) c.11580C= (p.Leu3860=) c.11355C= (p.Leu3785=) c.9354C= (p.Leu3118=) c.8583C= (p.Leu2861=) c.5955C= (p.Leu1985=) c.5004C= (p.Leu1668=) | |
15 | g.28141609G>T | CA489234935 | HERC2 | c.11838C>A (p.Leu3946=) c.3549C>A (p.Leu1183=) c.11724C>A (p.Leu3908=) c.11823C>A (p.Leu3941=) c.11580C>A (p.Leu3860=) c.11355C>A (p.Leu3785=) c.9354C>A (p.Leu3118=) c.8583C>A (p.Leu2861=) c.5955C>A (p.Leu1985=) c.5004C>A (p.Leu1668=) | |
15 | g.28141610A>C | CA391381650 | HERC2 | c.11837T>G (p.Leu3946Arg) c.3548T>G (p.Leu1183Arg) c.11723T>G (p.Leu3908Arg) c.11822T>G (p.Leu3941Arg) c.11579T>G (p.Leu3860Arg) c.11354T>G (p.Leu3785Arg) c.9353T>G (p.Leu3118Arg) c.8582T>G (p.Leu2861Arg) c.5954T>G (p.Leu1985Arg) c.5003T>G (p.Leu1668Arg) | |
15 | g.28141610A>G | CA391381651 | HERC2 | c.11837T>C (p.Leu3946Pro) c.3548T>C (p.Leu1183Pro) c.11723T>C (p.Leu3908Pro) c.11822T>C (p.Leu3941Pro) c.11579T>C (p.Leu3860Pro) c.11354T>C (p.Leu3785Pro) c.9353T>C (p.Leu3118Pro) c.8582T>C (p.Leu2861Pro) c.5954T>C (p.Leu1985Pro) c.5003T>C (p.Leu1668Pro) | |
15 | g.28141610A>T | CA391381652 | HERC2 | c.11837T>A (p.Leu3946His) c.3548T>A (p.Leu1183His) c.11723T>A (p.Leu3908His) c.11822T>A (p.Leu3941His) c.11579T>A (p.Leu3860His) c.11354T>A (p.Leu3785His) c.9353T>A (p.Leu3118His) c.8582T>A (p.Leu2861His) c.5954T>A (p.Leu1985His) c.5003T>A (p.Leu1668His) | |
15 | g.28141610dup | CA2166479957 | HERC2 | c.11837dup (p.Ser3947LeufsTer14) c.3548dup (p.Ser1184LeufsTer14) c.11723dup (p.Ser3909LeufsTer14) c.11822dup (p.Ser3942LeufsTer14) c.11579dup (p.Ser3861LeufsTer14) c.11354dup (p.Ser3786LeufsTer14) c.9353dup (p.Ser3119LeufsTer14) c.8582dup (p.Ser2862LeufsTer14) c.5954dup (p.Ser1986LeufsTer14) c.5003dup (p.Ser1669LeufsTer14) | dbSNP |
15 | g.28141611G>A | CA391381657 | HERC2 | c.11836C>T (p.Leu3946Phe) c.3547C>T (p.Leu1183Phe) c.11722C>T (p.Leu3908Phe) c.11821C>T (p.Leu3941Phe) c.11578C>T (p.Leu3860Phe) c.11353C>T (p.Leu3785Phe) c.9352C>T (p.Leu3118Phe) c.8581C>T (p.Leu2861Phe) c.5953C>T (p.Leu1985Phe) c.5002C>T (p.Leu1668Phe) | |
15 | g.28141611G>C | CA7440442 | HERC2 | c.11836C>G (p.Leu3946Val) c.3547C>G (p.Leu1183Val) c.11722C>G (p.Leu3908Val) c.11821C>G (p.Leu3941Val) c.11578C>G (p.Leu3860Val) c.11353C>G (p.Leu3785Val) c.9352C>G (p.Leu3118Val) c.8581C>G (p.Leu2861Val) c.5953C>G (p.Leu1985Val) c.5002C>G (p.Leu1668Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141611G= | CA2166479960 | HERC2 | c.11836C= (p.Leu3946=) c.3547C= (p.Leu1183=) c.11722C= (p.Leu3908=) c.11821C= (p.Leu3941=) c.11578C= (p.Leu3860=) c.11353C= (p.Leu3785=) c.9352C= (p.Leu3118=) c.8581C= (p.Leu2861=) c.5953C= (p.Leu1985=) c.5002C= (p.Leu1668=) | |
15 | g.28141611G>T | CA391381655 | HERC2 | c.11836C>A (p.Leu3946Ile) c.3547C>A (p.Leu1183Ile) c.11722C>A (p.Leu3908Ile) c.11821C>A (p.Leu3941Ile) c.11578C>A (p.Leu3860Ile) c.11353C>A (p.Leu3785Ile) c.9352C>A (p.Leu3118Ile) c.8581C>A (p.Leu2861Ile) c.5953C>A (p.Leu1985Ile) c.5002C>A (p.Leu1668Ile) | |
15 | g.28141612A= | CA2166479963 | HERC2 | c.11835T= (p.Thr3945=) c.3546T= (p.Thr1182=) c.11721T= (p.Thr3907=) c.11820T= (p.Thr3940=) c.11577T= (p.Thr3859=) c.11352T= (p.Thr3784=) c.9351T= (p.Thr3117=) c.8580T= (p.Thr2860=) c.5952T= (p.Thr1984=) c.5001T= (p.Thr1667=) | |
15 | g.28141612A>C | CA489234938 | HERC2 | c.11835T>G (p.Thr3945=) c.3546T>G (p.Thr1182=) c.11721T>G (p.Thr3907=) c.11820T>G (p.Thr3940=) c.11577T>G (p.Thr3859=) c.11352T>G (p.Thr3784=) c.9351T>G (p.Thr3117=) c.8580T>G (p.Thr2860=) c.5952T>G (p.Thr1984=) c.5001T>G (p.Thr1667=) | |
15 | g.28141612A>G | CA267946185 | HERC2 | c.11835T>C (p.Thr3945=) c.3546T>C (p.Thr1182=) c.11721T>C (p.Thr3907=) c.11820T>C (p.Thr3940=) c.11577T>C (p.Thr3859=) c.11352T>C (p.Thr3784=) c.9351T>C (p.Thr3117=) c.8580T>C (p.Thr2860=) c.5952T>C (p.Thr1984=) c.5001T>C (p.Thr1667=) | ClinVar dbSNP gnomAD v4 |
15 | g.28141612A>T | CA489234939 | HERC2 | c.11835T>A (p.Thr3945=) c.3546T>A (p.Thr1182=) c.11721T>A (p.Thr3907=) c.11820T>A (p.Thr3940=) c.11577T>A (p.Thr3859=) c.11352T>A (p.Thr3784=) c.9351T>A (p.Thr3117=) c.8580T>A (p.Thr2860=) c.5952T>A (p.Thr1984=) c.5001T>A (p.Thr1667=) | |
15 | g.28141613G>A | CA391381661 | HERC2 | c.11834C>T (p.Thr3945Ile) c.3545C>T (p.Thr1182Ile) c.11720C>T (p.Thr3907Ile) c.11819C>T (p.Thr3940Ile) c.11576C>T (p.Thr3859Ile) c.11351C>T (p.Thr3784Ile) c.9350C>T (p.Thr3117Ile) c.8579C>T (p.Thr2860Ile) c.5951C>T (p.Thr1984Ile) c.5000C>T (p.Thr1667Ile) | gnomAD v4 |
15 | g.28141613G>C | CA391381662 | HERC2 | c.11834C>G (p.Thr3945Ser) c.3545C>G (p.Thr1182Ser) c.11720C>G (p.Thr3907Ser) c.11819C>G (p.Thr3940Ser) c.11576C>G (p.Thr3859Ser) c.11351C>G (p.Thr3784Ser) c.9350C>G (p.Thr3117Ser) c.8579C>G (p.Thr2860Ser) c.5951C>G (p.Thr1984Ser) c.5000C>G (p.Thr1667Ser) | |
15 | g.28141613G= | CA2166479965 | HERC2 | c.11834C= (p.Thr3945=) c.3545C= (p.Thr1182=) c.11720C= (p.Thr3907=) c.11819C= (p.Thr3940=) c.11576C= (p.Thr3859=) c.11351C= (p.Thr3784=) c.9350C= (p.Thr3117=) c.8579C= (p.Thr2860=) c.5951C= (p.Thr1984=) c.5000C= (p.Thr1667=) | |
15 | g.28141613G>T | CA391381663 | HERC2 | c.11834C>A (p.Thr3945Asn) c.3545C>A (p.Thr1182Asn) c.11720C>A (p.Thr3907Asn) c.11819C>A (p.Thr3940Asn) c.11576C>A (p.Thr3859Asn) c.11351C>A (p.Thr3784Asn) c.9350C>A (p.Thr3117Asn) c.8579C>A (p.Thr2860Asn) c.5951C>A (p.Thr1984Asn) c.5000C>A (p.Thr1667Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141614T>A | CA391381665 | HERC2 | c.11833A>T (p.Thr3945Ser) c.3544A>T (p.Thr1182Ser) c.11719A>T (p.Thr3907Ser) c.11818A>T (p.Thr3940Ser) c.11575A>T (p.Thr3859Ser) c.11350A>T (p.Thr3784Ser) c.9349A>T (p.Thr3117Ser) c.8578A>T (p.Thr2860Ser) c.5950A>T (p.Thr1984Ser) c.4999A>T (p.Thr1667Ser) | |
15 | g.28141614T>C | CA391381666 | HERC2 | c.11833A>G (p.Thr3945Ala) c.3544A>G (p.Thr1182Ala) c.11719A>G (p.Thr3907Ala) c.11818A>G (p.Thr3940Ala) c.11575A>G (p.Thr3859Ala) c.11350A>G (p.Thr3784Ala) c.9349A>G (p.Thr3117Ala) c.8578A>G (p.Thr2860Ala) c.5950A>G (p.Thr1984Ala) c.4999A>G (p.Thr1667Ala) | |
15 | g.28141614T>G | CA391381668 | HERC2 | c.11833A>C (p.Thr3945Pro) c.3544A>C (p.Thr1182Pro) c.11719A>C (p.Thr3907Pro) c.11818A>C (p.Thr3940Pro) c.11575A>C (p.Thr3859Pro) c.11350A>C (p.Thr3784Pro) c.9349A>C (p.Thr3117Pro) c.8578A>C (p.Thr2860Pro) c.5950A>C (p.Thr1984Pro) c.4999A>C (p.Thr1667Pro) | |
15 | g.28141615C>A | CA391381670 | HERC2 | c.11832G>T (p.Trp3944Cys) c.3543G>T (p.Trp1181Cys) c.11718G>T (p.Trp3906Cys) c.11817G>T (p.Trp3939Cys) c.11574G>T (p.Trp3858Cys) c.11349G>T (p.Trp3783Cys) c.9348G>T (p.Trp3116Cys) c.8577G>T (p.Trp2859Cys) c.5949G>T (p.Trp1983Cys) c.4998G>T (p.Trp1666Cys) | |
15 | g.28141615C>G | CA391381672 | HERC2 | c.11832G>C (p.Trp3944Cys) c.3543G>C (p.Trp1181Cys) c.11718G>C (p.Trp3906Cys) c.11817G>C (p.Trp3939Cys) c.11574G>C (p.Trp3858Cys) c.11349G>C (p.Trp3783Cys) c.9348G>C (p.Trp3116Cys) c.8577G>C (p.Trp2859Cys) c.5949G>C (p.Trp1983Cys) c.4998G>C (p.Trp1666Cys) | |
15 | g.28141615C>T | CA391381673 | HERC2 | c.11832G>A (p.Trp3944Ter) c.3543G>A (p.Trp1181Ter) c.11718G>A (p.Trp3906Ter) c.11817G>A (p.Trp3939Ter) c.11574G>A (p.Trp3858Ter) c.11349G>A (p.Trp3783Ter) c.9348G>A (p.Trp3116Ter) c.8577G>A (p.Trp2859Ter) c.5949G>A (p.Trp1983Ter) c.4998G>A (p.Trp1666Ter) | |
15 | g.28141616C>A | CA391381675 | HERC2 | c.11831G>T (p.Trp3944Leu) c.3542G>T (p.Trp1181Leu) c.11717G>T (p.Trp3906Leu) c.11816G>T (p.Trp3939Leu) c.11573G>T (p.Trp3858Leu) c.11348G>T (p.Trp3783Leu) c.9347G>T (p.Trp3116Leu) c.8576G>T (p.Trp2859Leu) c.5948G>T (p.Trp1983Leu) c.4997G>T (p.Trp1666Leu) | gnomAD v4 |
15 | g.28141616C>G | CA391381677 | HERC2 | c.11831G>C (p.Trp3944Ser) c.3542G>C (p.Trp1181Ser) c.11717G>C (p.Trp3906Ser) c.11816G>C (p.Trp3939Ser) c.11573G>C (p.Trp3858Ser) c.11348G>C (p.Trp3783Ser) c.9347G>C (p.Trp3116Ser) c.8576G>C (p.Trp2859Ser) c.5948G>C (p.Trp1983Ser) c.4997G>C (p.Trp1666Ser) | |
15 | g.28141616C>T | CA391381678 | HERC2 | c.11831G>A (p.Trp3944Ter) c.3542G>A (p.Trp1181Ter) c.11717G>A (p.Trp3906Ter) c.11816G>A (p.Trp3939Ter) c.11573G>A (p.Trp3858Ter) c.11348G>A (p.Trp3783Ter) c.9347G>A (p.Trp3116Ter) c.8576G>A (p.Trp2859Ter) c.5948G>A (p.Trp1983Ter) c.4997G>A (p.Trp1666Ter) | |
15 | g.28141617A>C | CA391381680 | HERC2 | c.11830T>G (p.Trp3944Gly) c.3541T>G (p.Trp1181Gly) c.11716T>G (p.Trp3906Gly) c.11815T>G (p.Trp3939Gly) c.11572T>G (p.Trp3858Gly) c.11347T>G (p.Trp3783Gly) c.9346T>G (p.Trp3116Gly) c.8575T>G (p.Trp2859Gly) c.5947T>G (p.Trp1983Gly) c.4996T>G (p.Trp1666Gly) | |
15 | g.28141617A>G | CA391381683 | HERC2 | c.11830T>C (p.Trp3944Arg) c.3541T>C (p.Trp1181Arg) c.11716T>C (p.Trp3906Arg) c.11815T>C (p.Trp3939Arg) c.11572T>C (p.Trp3858Arg) c.11347T>C (p.Trp3783Arg) c.9346T>C (p.Trp3116Arg) c.8575T>C (p.Trp2859Arg) c.5947T>C (p.Trp1983Arg) c.4996T>C (p.Trp1666Arg) | |
15 | g.28141617A>T | CA391381681 | HERC2 | c.11830T>A (p.Trp3944Arg) c.3541T>A (p.Trp1181Arg) c.11716T>A (p.Trp3906Arg) c.11815T>A (p.Trp3939Arg) c.11572T>A (p.Trp3858Arg) c.11347T>A (p.Trp3783Arg) c.9346T>A (p.Trp3116Arg) c.8575T>A (p.Trp2859Arg) c.5947T>A (p.Trp1983Arg) c.4996T>A (p.Trp1666Arg) | |
15 | g.28141618G>A | CA489234945 | HERC2 | c.11829C>T (p.Asp3943=) c.3540C>T (p.Asp1180=) c.11715C>T (p.Asp3905=) c.11814C>T (p.Asp3938=) c.11571C>T (p.Asp3857=) c.11346C>T (p.Asp3782=) c.9345C>T (p.Asp3115=) c.8574C>T (p.Asp2858=) c.5946C>T (p.Asp1982=) c.4995C>T (p.Asp1665=) | dbSNP |
15 | g.28141618G>C | CA391381685 | HERC2 | c.11829C>G (p.Asp3943Glu) c.3540C>G (p.Asp1180Glu) c.11715C>G (p.Asp3905Glu) c.11814C>G (p.Asp3938Glu) c.11571C>G (p.Asp3857Glu) c.11346C>G (p.Asp3782Glu) c.9345C>G (p.Asp3115Glu) c.8574C>G (p.Asp2858Glu) c.5946C>G (p.Asp1982Glu) c.4995C>G (p.Asp1665Glu) | dbSNP gnomAD v4 |
15 | g.28141618G= | CA2166479967 | HERC2 | c.11829C= (p.Asp3943=) c.3540C= (p.Asp1180=) c.11715C= (p.Asp3905=) c.11814C= (p.Asp3938=) c.11571C= (p.Asp3857=) c.11346C= (p.Asp3782=) c.9345C= (p.Asp3115=) c.8574C= (p.Asp2858=) c.5946C= (p.Asp1982=) c.4995C= (p.Asp1665=) | |
15 | g.28141618G>T | CA391381686 | HERC2 | c.11829C>A (p.Asp3943Glu) c.3540C>A (p.Asp1180Glu) c.11715C>A (p.Asp3905Glu) c.11814C>A (p.Asp3938Glu) c.11571C>A (p.Asp3857Glu) c.11346C>A (p.Asp3782Glu) c.9345C>A (p.Asp3115Glu) c.8574C>A (p.Asp2858Glu) c.5946C>A (p.Asp1982Glu) c.4995C>A (p.Asp1665Glu) | |
15 | g.28141619T>A | CA391381688 | HERC2 | c.11828A>T (p.Asp3943Val) c.3539A>T (p.Asp1180Val) c.11714A>T (p.Asp3905Val) c.11813A>T (p.Asp3938Val) c.11570A>T (p.Asp3857Val) c.11345A>T (p.Asp3782Val) c.9344A>T (p.Asp3115Val) c.8573A>T (p.Asp2858Val) c.5945A>T (p.Asp1982Val) c.4994A>T (p.Asp1665Val) | |
15 | g.28141619T>C | CA391381690 | HERC2 | c.11828A>G (p.Asp3943Gly) c.3539A>G (p.Asp1180Gly) c.11714A>G (p.Asp3905Gly) c.11813A>G (p.Asp3938Gly) c.11570A>G (p.Asp3857Gly) c.11345A>G (p.Asp3782Gly) c.9344A>G (p.Asp3115Gly) c.8573A>G (p.Asp2858Gly) c.5945A>G (p.Asp1982Gly) c.4994A>G (p.Asp1665Gly) | |
15 | g.28141619T>G | CA391381692 | HERC2 | c.11828A>C (p.Asp3943Ala) c.3539A>C (p.Asp1180Ala) c.11714A>C (p.Asp3905Ala) c.11813A>C (p.Asp3938Ala) c.11570A>C (p.Asp3857Ala) c.11345A>C (p.Asp3782Ala) c.9344A>C (p.Asp3115Ala) c.8573A>C (p.Asp2858Ala) c.5945A>C (p.Asp1982Ala) c.4994A>C (p.Asp1665Ala) | |
15 | g.28141620C>A | CA391381694 | HERC2 | c.11827G>T (p.Asp3943Tyr) c.3538G>T (p.Asp1180Tyr) c.11713G>T (p.Asp3905Tyr) c.11812G>T (p.Asp3938Tyr) c.11569G>T (p.Asp3857Tyr) c.11344G>T (p.Asp3782Tyr) c.9343G>T (p.Asp3115Tyr) c.8572G>T (p.Asp2858Tyr) c.5944G>T (p.Asp1982Tyr) c.4993G>T (p.Asp1665Tyr) | |
15 | g.28141620C>G | CA391381696 | HERC2 | c.11827G>C (p.Asp3943His) c.3538G>C (p.Asp1180His) c.11713G>C (p.Asp3905His) c.11812G>C (p.Asp3938His) c.11569G>C (p.Asp3857His) c.11344G>C (p.Asp3782His) c.9343G>C (p.Asp3115His) c.8572G>C (p.Asp2858His) c.5944G>C (p.Asp1982His) c.4993G>C (p.Asp1665His) | |
15 | g.28141620C>T | CA391381698 | HERC2 | c.11827G>A (p.Asp3943Asn) c.3538G>A (p.Asp1180Asn) c.11713G>A (p.Asp3905Asn) c.11812G>A (p.Asp3938Asn) c.11569G>A (p.Asp3857Asn) c.11344G>A (p.Asp3782Asn) c.9343G>A (p.Asp3115Asn) c.8572G>A (p.Asp2858Asn) c.5944G>A (p.Asp1982Asn) c.4993G>A (p.Asp1665Asn) | |
15 | g.28141621A>C | CA391381699 | HERC2 | c.11826T>G (p.Asp3942Glu) c.3537T>G (p.Asp1179Glu) c.11712T>G (p.Asp3904Glu) c.11811T>G (p.Asp3937Glu) c.11568T>G (p.Asp3856Glu) c.11343T>G (p.Asp3781Glu) c.9342T>G (p.Asp3114Glu) c.8571T>G (p.Asp2857Glu) c.5943T>G (p.Asp1981Glu) c.4992T>G (p.Asp1664Glu) | |
15 | g.28141621A>G | CA489234948 | HERC2 | c.11826T>C (p.Asp3942=) c.3537T>C (p.Asp1179=) c.11712T>C (p.Asp3904=) c.11811T>C (p.Asp3937=) c.11568T>C (p.Asp3856=) c.11343T>C (p.Asp3781=) c.9342T>C (p.Asp3114=) c.8571T>C (p.Asp2857=) c.5943T>C (p.Asp1981=) c.4992T>C (p.Asp1664=) | |
15 | g.28141621A>T | CA391381701 | HERC2 | c.11826T>A (p.Asp3942Glu) c.3537T>A (p.Asp1179Glu) c.11712T>A (p.Asp3904Glu) c.11811T>A (p.Asp3937Glu) c.11568T>A (p.Asp3856Glu) c.11343T>A (p.Asp3781Glu) c.9342T>A (p.Asp3114Glu) c.8571T>A (p.Asp2857Glu) c.5943T>A (p.Asp1981Glu) c.4992T>A (p.Asp1664Glu) | |
15 | g.28141622T>A | CA391381705 | HERC2 | c.11825A>T (p.Asp3942Val) c.3536A>T (p.Asp1179Val) c.11711A>T (p.Asp3904Val) c.11810A>T (p.Asp3937Val) c.11567A>T (p.Asp3856Val) c.11342A>T (p.Asp3781Val) c.9341A>T (p.Asp3114Val) c.8570A>T (p.Asp2857Val) c.5942A>T (p.Asp1981Val) c.4991A>T (p.Asp1664Val) | |
15 | g.28141622T>C | CA391381707 | HERC2 | c.11825A>G (p.Asp3942Gly) c.3536A>G (p.Asp1179Gly) c.11711A>G (p.Asp3904Gly) c.11810A>G (p.Asp3937Gly) c.11567A>G (p.Asp3856Gly) c.11342A>G (p.Asp3781Gly) c.9341A>G (p.Asp3114Gly) c.8570A>G (p.Asp2857Gly) c.5942A>G (p.Asp1981Gly) c.4991A>G (p.Asp1664Gly) | |
15 | g.28141622T>G | CA391381703 | HERC2 | c.11825A>C (p.Asp3942Ala) c.3536A>C (p.Asp1179Ala) c.11711A>C (p.Asp3904Ala) c.11810A>C (p.Asp3937Ala) c.11567A>C (p.Asp3856Ala) c.11342A>C (p.Asp3781Ala) c.9341A>C (p.Asp3114Ala) c.8570A>C (p.Asp2857Ala) c.5942A>C (p.Asp1981Ala) c.4991A>C (p.Asp1664Ala) | |
15 | g.28141623C>A | CA391381710 | HERC2 | c.11824G>T (p.Asp3942Tyr) c.3535G>T (p.Asp1179Tyr) c.11710G>T (p.Asp3904Tyr) c.11809G>T (p.Asp3937Tyr) c.11566G>T (p.Asp3856Tyr) c.11341G>T (p.Asp3781Tyr) c.9340G>T (p.Asp3114Tyr) c.8569G>T (p.Asp2857Tyr) c.5941G>T (p.Asp1981Tyr) c.4990G>T (p.Asp1664Tyr) | gnomAD v4 COSMIC COSMIC |
15 | g.28141623C>G | CA391381709 | HERC2 | c.11824G>C (p.Asp3942His) c.3535G>C (p.Asp1179His) c.11710G>C (p.Asp3904His) c.11809G>C (p.Asp3937His) c.11566G>C (p.Asp3856His) c.11341G>C (p.Asp3781His) c.9340G>C (p.Asp3114His) c.8569G>C (p.Asp2857His) c.5941G>C (p.Asp1981His) c.4990G>C (p.Asp1664His) | |
15 | g.28141623C>T | CA391381712 | HERC2 | c.11824G>A (p.Asp3942Asn) c.3535G>A (p.Asp1179Asn) c.11710G>A (p.Asp3904Asn) c.11809G>A (p.Asp3937Asn) c.11566G>A (p.Asp3856Asn) c.11341G>A (p.Asp3781Asn) c.9340G>A (p.Asp3114Asn) c.8569G>A (p.Asp2857Asn) c.5941G>A (p.Asp1981Asn) c.4990G>A (p.Asp1664Asn) | |
15 | g.28141624T>A | CA489234953 | HERC2 | c.11823A>T (p.Pro3941=) c.3534A>T (p.Pro1178=) c.11709A>T (p.Pro3903=) c.11808A>T (p.Pro3936=) c.11565A>T (p.Pro3855=) c.11340A>T (p.Pro3780=) c.9339A>T (p.Pro3113=) c.8568A>T (p.Pro2856=) c.5940A>T (p.Pro1980=) c.4989A>T (p.Pro1663=) | |
15 | g.28141624T>C | CA489234954 | HERC2 | c.11823A>G (p.Pro3941=) c.3534A>G (p.Pro1178=) c.11709A>G (p.Pro3903=) c.11808A>G (p.Pro3936=) c.11565A>G (p.Pro3855=) c.11340A>G (p.Pro3780=) c.9339A>G (p.Pro3113=) c.8568A>G (p.Pro2856=) c.5940A>G (p.Pro1980=) c.4989A>G (p.Pro1663=) | gnomAD v4 |
15 | g.28141624T>G | CA489234955 | HERC2 | c.11823A>C (p.Pro3941=) c.3534A>C (p.Pro1178=) c.11709A>C (p.Pro3903=) c.11808A>C (p.Pro3936=) c.11565A>C (p.Pro3855=) c.11340A>C (p.Pro3780=) c.9339A>C (p.Pro3113=) c.8568A>C (p.Pro2856=) c.5940A>C (p.Pro1980=) c.4989A>C (p.Pro1663=) | |
15 | g.28141625G>A | CA391381714 | HERC2 | c.11822C>T (p.Pro3941Leu) c.3533C>T (p.Pro1178Leu) c.11708C>T (p.Pro3903Leu) c.11807C>T (p.Pro3936Leu) c.11564C>T (p.Pro3855Leu) c.11339C>T (p.Pro3780Leu) c.9338C>T (p.Pro3113Leu) c.8567C>T (p.Pro2856Leu) c.5939C>T (p.Pro1980Leu) c.4988C>T (p.Pro1663Leu) | gnomAD v4 |
15 | g.28141625G>C | CA391381716 | HERC2 | c.11822C>G (p.Pro3941Arg) c.3533C>G (p.Pro1178Arg) c.11708C>G (p.Pro3903Arg) c.11807C>G (p.Pro3936Arg) c.11564C>G (p.Pro3855Arg) c.11339C>G (p.Pro3780Arg) c.9338C>G (p.Pro3113Arg) c.8567C>G (p.Pro2856Arg) c.5939C>G (p.Pro1980Arg) c.4988C>G (p.Pro1663Arg) | |
15 | g.28141625G>T | CA391381717 | HERC2 | c.11822C>A (p.Pro3941Gln) c.3533C>A (p.Pro1178Gln) c.11708C>A (p.Pro3903Gln) c.11807C>A (p.Pro3936Gln) c.11564C>A (p.Pro3855Gln) c.11339C>A (p.Pro3780Gln) c.9338C>A (p.Pro3113Gln) c.8567C>A (p.Pro2856Gln) c.5939C>A (p.Pro1980Gln) c.4988C>A (p.Pro1663Gln) | |
15 | g.28141626G>A | CA391381719 | HERC2 | c.11821C>T (p.Pro3941Ser) c.3532C>T (p.Pro1178Ser) c.11707C>T (p.Pro3903Ser) c.11806C>T (p.Pro3936Ser) c.11563C>T (p.Pro3855Ser) c.11338C>T (p.Pro3780Ser) c.9337C>T (p.Pro3113Ser) c.8566C>T (p.Pro2856Ser) c.5938C>T (p.Pro1980Ser) c.4987C>T (p.Pro1663Ser) | dbSNP gnomAD v4 |
15 | g.28141626G>C | CA391381720 | HERC2 | c.11821C>G (p.Pro3941Ala) c.3532C>G (p.Pro1178Ala) c.11707C>G (p.Pro3903Ala) c.11806C>G (p.Pro3936Ala) c.11563C>G (p.Pro3855Ala) c.11338C>G (p.Pro3780Ala) c.9337C>G (p.Pro3113Ala) c.8566C>G (p.Pro2856Ala) c.5938C>G (p.Pro1980Ala) c.4987C>G (p.Pro1663Ala) | |
15 | g.28141626G= | CA2166479969 | HERC2 | c.11821C= (p.Pro3941=) c.3532C= (p.Pro1178=) c.11707C= (p.Pro3903=) c.11806C= (p.Pro3936=) c.11563C= (p.Pro3855=) c.11338C= (p.Pro3780=) c.9337C= (p.Pro3113=) c.8566C= (p.Pro2856=) c.5938C= (p.Pro1980=) c.4987C= (p.Pro1663=) | |
15 | g.28141626G>T | CA391381722 | HERC2 | c.11821C>A (p.Pro3941Thr) c.3532C>A (p.Pro1178Thr) c.11707C>A (p.Pro3903Thr) c.11806C>A (p.Pro3936Thr) c.11563C>A (p.Pro3855Thr) c.11338C>A (p.Pro3780Thr) c.9337C>A (p.Pro3113Thr) c.8566C>A (p.Pro2856Thr) c.5938C>A (p.Pro1980Thr) c.4987C>A (p.Pro1663Thr) | |
15 | g.28141627T>A | CA489234962 | HERC2 | c.11820A>T (p.Arg3940=) c.3531A>T (p.Arg1177=) c.11706A>T (p.Arg3902=) c.11805A>T (p.Arg3935=) c.11562A>T (p.Arg3854=) c.11337A>T (p.Arg3779=) c.9336A>T (p.Arg3112=) c.8565A>T (p.Arg2855=) c.5937A>T (p.Arg1979=) c.4986A>T (p.Arg1662=) | gnomAD v4 |
15 | g.28141627T>C | CA489234963 | HERC2 | c.11820A>G (p.Arg3940=) c.3531A>G (p.Arg1177=) c.11706A>G (p.Arg3902=) c.11805A>G (p.Arg3935=) c.11562A>G (p.Arg3854=) c.11337A>G (p.Arg3779=) c.9336A>G (p.Arg3112=) c.8565A>G (p.Arg2855=) c.5937A>G (p.Arg1979=) c.4986A>G (p.Arg1662=) | |
15 | g.28141627T>G | CA489234964 | HERC2 | c.11820A>C (p.Arg3940=) c.3531A>C (p.Arg1177=) c.11706A>C (p.Arg3902=) c.11805A>C (p.Arg3935=) c.11562A>C (p.Arg3854=) c.11337A>C (p.Arg3779=) c.9336A>C (p.Arg3112=) c.8565A>C (p.Arg2855=) c.5937A>C (p.Arg1979=) c.4986A>C (p.Arg1662=) | |
15 | g.28141628C>A | CA391381725 | HERC2 | c.11819G>T (p.Arg3940Leu) c.3530G>T (p.Arg1177Leu) c.11705G>T (p.Arg3902Leu) c.11804G>T (p.Arg3935Leu) c.11561G>T (p.Arg3854Leu) c.11336G>T (p.Arg3779Leu) c.9335G>T (p.Arg3112Leu) c.8564G>T (p.Arg2855Leu) c.5936G>T (p.Arg1979Leu) c.4985G>T (p.Arg1662Leu) | gnomAD v4 |
15 | g.28141628C= | CA2166479971 | HERC2 | c.11819G= (p.Arg3940=) c.3530G= (p.Arg1177=) c.11705G= (p.Arg3902=) c.11804G= (p.Arg3935=) c.11561G= (p.Arg3854=) c.11336G= (p.Arg3779=) c.9335G= (p.Arg3112=) c.8564G= (p.Arg2855=) c.5936G= (p.Arg1979=) c.4985G= (p.Arg1662=) | |
15 | g.28141628C>G | CA391381723 | HERC2 | c.11819G>C (p.Arg3940Pro) c.3530G>C (p.Arg1177Pro) c.11705G>C (p.Arg3902Pro) c.11804G>C (p.Arg3935Pro) c.11561G>C (p.Arg3854Pro) c.11336G>C (p.Arg3779Pro) c.9335G>C (p.Arg3112Pro) c.8564G>C (p.Arg2855Pro) c.5936G>C (p.Arg1979Pro) c.4985G>C (p.Arg1662Pro) | |
15 | g.28141628C>T | CA7440443 | HERC2 | c.11819G>A (p.Arg3940Gln) c.3530G>A (p.Arg1177Gln) c.11705G>A (p.Arg3902Gln) c.11804G>A (p.Arg3935Gln) c.11561G>A (p.Arg3854Gln) c.11336G>A (p.Arg3779Gln) c.9335G>A (p.Arg3112Gln) c.8564G>A (p.Arg2855Gln) c.5936G>A (p.Arg1979Gln) c.4985G>A (p.Arg1662Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.28141629G>A | CA391381728 | HERC2 | c.11818C>T (p.Arg3940Ter) c.3529C>T (p.Arg1177Ter) c.11704C>T (p.Arg3902Ter) c.11803C>T (p.Arg3935Ter) c.11560C>T (p.Arg3854Ter) c.11335C>T (p.Arg3779Ter) c.9334C>T (p.Arg3112Ter) c.8563C>T (p.Arg2855Ter) c.5935C>T (p.Arg1979Ter) c.4984C>T (p.Arg1662Ter) | gnomAD v4 COSMIC COSMIC |
15 | g.28141629G>C | CA391381729 | HERC2 | c.11818C>G (p.Arg3940Gly) c.3529C>G (p.Arg1177Gly) c.11704C>G (p.Arg3902Gly) c.11803C>G (p.Arg3935Gly) c.11560C>G (p.Arg3854Gly) c.11335C>G (p.Arg3779Gly) c.9334C>G (p.Arg3112Gly) c.8563C>G (p.Arg2855Gly) c.5935C>G (p.Arg1979Gly) c.4984C>G (p.Arg1662Gly) | |
15 | g.28141629G= | CA2166479975 | HERC2 | c.11818C= (p.Arg3940=) c.3529C= (p.Arg1177=) c.11704C= (p.Arg3902=) c.11803C= (p.Arg3935=) c.11560C= (p.Arg3854=) c.11335C= (p.Arg3779=) c.9334C= (p.Arg3112=) c.8563C= (p.Arg2855=) c.5935C= (p.Arg1979=) c.4984C= (p.Arg1662=) | |
15 | g.28141629G>T | CA7440444 | HERC2 | c.11818C>A (p.Arg3940=) c.3529C>A (p.Arg1177=) c.11704C>A (p.Arg3902=) c.11803C>A (p.Arg3935=) c.11560C>A (p.Arg3854=) c.11335C>A (p.Arg3779=) c.9334C>A (p.Arg3112=) c.8563C>A (p.Arg2855=) c.5935C>A (p.Arg1979=) c.4984C>A (p.Arg1662=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141630C>A | CA391381732 | HERC2 | c.11817G>T (p.Arg3939Ser) c.3528G>T (p.Arg1176Ser) c.11703G>T (p.Arg3901Ser) c.11802G>T (p.Arg3934Ser) c.11559G>T (p.Arg3853Ser) c.11334G>T (p.Arg3778Ser) c.9333G>T (p.Arg3111Ser) c.8562G>T (p.Arg2854Ser) c.5934G>T (p.Arg1978Ser) c.4983G>T (p.Arg1661Ser) | |
15 | g.28141630C>G | CA391381734 | HERC2 | c.11817G>C (p.Arg3939Ser) c.3528G>C (p.Arg1176Ser) c.11703G>C (p.Arg3901Ser) c.11802G>C (p.Arg3934Ser) c.11559G>C (p.Arg3853Ser) c.11334G>C (p.Arg3778Ser) c.9333G>C (p.Arg3111Ser) c.8562G>C (p.Arg2854Ser) c.5934G>C (p.Arg1978Ser) c.4983G>C (p.Arg1661Ser) | |
15 | g.28141630C>T | CA489234966 | HERC2 | c.11817G>A (p.Arg3939=) c.3528G>A (p.Arg1176=) c.11703G>A (p.Arg3901=) c.11802G>A (p.Arg3934=) c.11559G>A (p.Arg3853=) c.11334G>A (p.Arg3778=) c.9333G>A (p.Arg3111=) c.8562G>A (p.Arg2854=) c.5934G>A (p.Arg1978=) c.4983G>A (p.Arg1661=) | gnomAD v4 |
15 | g.28141631C>A | CA391381735 | HERC2 | c.11817-1G>T (n.11817-1G>T) c.3528-1G>T (n.3528-1G>T) c.11703-1G>T (n.11703-1G>T) c.11802-1G>T (n.11802-1G>T) c.11559-1G>T (n.11559-1G>T) c.11334-1G>T (n.11334-1G>T) c.9333-1G>T (n.9333-1G>T) c.8562-1G>T (n.8562-1G>T) c.5934-1G>T (n.5934-1G>T) c.4983-1G>T (n.4983-1G>T) | |
15 | g.28141631C>G | CA391381739 | HERC2 | c.11817-1G>C (n.11817-1G>C) c.3528-1G>C (n.3528-1G>C) c.11703-1G>C (n.11703-1G>C) c.11802-1G>C (n.11802-1G>C) c.11559-1G>C (n.11559-1G>C) c.11334-1G>C (n.11334-1G>C) c.9333-1G>C (n.9333-1G>C) c.8562-1G>C (n.8562-1G>C) c.5934-1G>C (n.5934-1G>C) c.4983-1G>C (n.4983-1G>C) | |
15 | g.28141631C>T | CA391381737 | HERC2 | c.11817-1G>A (n.11817-1G>A) c.3528-1G>A (n.3528-1G>A) c.11703-1G>A (n.11703-1G>A) c.11802-1G>A (n.11802-1G>A) c.11559-1G>A (n.11559-1G>A) c.11334-1G>A (n.11334-1G>A) c.9333-1G>A (n.9333-1G>A) c.8562-1G>A (n.8562-1G>A) c.5934-1G>A (n.5934-1G>A) c.4983-1G>A (n.4983-1G>A) | |
15 | g.28141632T>A | CA391381741 | HERC2 | c.11817-2A>T (n.11817-2A>T) c.3528-2A>T (n.3528-2A>T) c.11703-2A>T (n.11703-2A>T) c.11802-2A>T (n.11802-2A>T) c.11559-2A>T (n.11559-2A>T) c.11334-2A>T (n.11334-2A>T) c.9333-2A>T (n.9333-2A>T) c.8562-2A>T (n.8562-2A>T) c.5934-2A>T (n.5934-2A>T) c.4983-2A>T (n.4983-2A>T) | |
15 | g.28141632T>C | CA391381742 | HERC2 | c.11817-2A>G (n.11817-2A>G) c.3528-2A>G (n.3528-2A>G) c.11703-2A>G (n.11703-2A>G) c.11802-2A>G (n.11802-2A>G) c.11559-2A>G (n.11559-2A>G) c.11334-2A>G (n.11334-2A>G) c.9333-2A>G (n.9333-2A>G) c.8562-2A>G (n.8562-2A>G) c.5934-2A>G (n.5934-2A>G) c.4983-2A>G (n.4983-2A>G) | |
15 | g.28141632T>G | CA391381744 | HERC2 | c.11817-2A>C (n.11817-2A>C) c.3528-2A>C (n.3528-2A>C) c.11703-2A>C (n.11703-2A>C) c.11802-2A>C (n.11802-2A>C) c.11559-2A>C (n.11559-2A>C) c.11334-2A>C (n.11334-2A>C) c.9333-2A>C (n.9333-2A>C) c.8562-2A>C (n.8562-2A>C) c.5934-2A>C (n.5934-2A>C) c.4983-2A>C (n.4983-2A>C) | |
15 | g.28141632_28141633insGTA | CA2522767456 | HERC2 | c.11817-3_11817-2insTAC (n.11817-3_11817-2insTAC) c.3528-3_3528-2insTAC (n.3528-3_3528-2insTAC) c.11703-3_11703-2insTAC (n.11703-3_11703-2insTAC) c.11802-3_11802-2insTAC (n.11802-3_11802-2insTAC) c.11559-3_11559-2insTAC (n.11559-3_11559-2insTAC) c.11334-3_11334-2insTAC (n.11334-3_11334-2insTAC) c.9333-3_9333-2insTAC (n.9333-3_9333-2insTAC) c.8562-3_8562-2insTAC (n.8562-3_8562-2insTAC) c.5934-3_5934-2insTAC (n.5934-3_5934-2insTAC) c.4983-3_4983-2insTAC (n.4983-3_4983-2insTAC) | |
15 | g.28141634C>A | CA2627386250 | HERC2 | c.11817-4G>T (n.11817-4G>T) c.3528-4G>T (n.3528-4G>T) c.11703-4G>T (n.11703-4G>T) c.11802-4G>T (n.11802-4G>T) c.11559-4G>T (n.11559-4G>T) c.11334-4G>T (n.11334-4G>T) c.9333-4G>T (n.9333-4G>T) c.8562-4G>T (n.8562-4G>T) c.5934-4G>T (n.5934-4G>T) c.4983-4G>T (n.4983-4G>T) | gnomAD v4 |
15 | g.28141634C= | CA2166479976 | HERC2 | c.11817-4G= (n.11817-4G=) c.3528-4G= (n.3528-4G=) c.11703-4G= (n.11703-4G=) c.11802-4G= (n.11802-4G=) c.11559-4G= (n.11559-4G=) c.11334-4G= (n.11334-4G=) c.9333-4G= (n.9333-4G=) c.8562-4G= (n.8562-4G=) c.5934-4G= (n.5934-4G=) c.4983-4G= (n.4983-4G=) | |
15 | g.28141634C>G | CA7440446 | HERC2 | c.11817-4G>C (n.11817-4G>C) c.3528-4G>C (n.3528-4G>C) c.11703-4G>C (n.11703-4G>C) c.11802-4G>C (n.11802-4G>C) c.11559-4G>C (n.11559-4G>C) c.11334-4G>C (n.11334-4G>C) c.9333-4G>C (n.9333-4G>C) c.8562-4G>C (n.8562-4G>C) c.5934-4G>C (n.5934-4G>C) c.4983-4G>C (n.4983-4G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141634C>T | CA7440445 | HERC2 | c.11817-4G>A (n.11817-4G>A) c.3528-4G>A (n.3528-4G>A) c.11703-4G>A (n.11703-4G>A) c.11802-4G>A (n.11802-4G>A) c.11559-4G>A (n.11559-4G>A) c.11334-4G>A (n.11334-4G>A) c.9333-4G>A (n.9333-4G>A) c.8562-4G>A (n.8562-4G>A) c.5934-4G>A (n.5934-4G>A) c.4983-4G>A (n.4983-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141635A>G | CA2627386251 | HERC2 | c.11817-5T>C (n.11817-5T>C) c.3528-5T>C (n.3528-5T>C) c.11703-5T>C (n.11703-5T>C) c.11802-5T>C (n.11802-5T>C) c.11559-5T>C (n.11559-5T>C) c.11334-5T>C (n.11334-5T>C) c.9333-5T>C (n.9333-5T>C) c.8562-5T>C (n.8562-5T>C) c.5934-5T>C (n.5934-5T>C) c.4983-5T>C (n.4983-5T>C) | gnomAD v4 |
15 | g.28141636_28141637insCCCCCCAAACACACCC | CA2803510924 | HERC2 | c.11817-7_11817-6insGGGTGTGTTTGGGGGG (n.11817-7_11817-6insGGGTGTGTTTGGGGGG) c.3528-7_3528-6insGGGTGTGTTTGGGGGG (n.3528-7_3528-6insGGGTGTGTTTGGGGGG) c.11703-7_11703-6insGGGTGTGTTTGGGGGG (n.11703-7_11703-6insGGGTGTGTTTGGGGGG) c.11802-7_11802-6insGGGTGTGTTTGGGGGG (n.11802-7_11802-6insGGGTGTGTTTGGGGGG) c.11559-7_11559-6insGGGTGTGTTTGGGGGG (n.11559-7_11559-6insGGGTGTGTTTGGGGGG) c.11334-7_11334-6insGGGTGTGTTTGGGGGG (n.11334-7_11334-6insGGGTGTGTTTGGGGGG) c.9333-7_9333-6insGGGTGTGTTTGGGGGG (n.9333-7_9333-6insGGGTGTGTTTGGGGGG) c.8562-7_8562-6insGGGTGTGTTTGGGGGG (n.8562-7_8562-6insGGGTGTGTTTGGGGGG) c.5934-7_5934-6insGGGTGTGTTTGGGGGG (n.5934-7_5934-6insGGGTGTGTTTGGGGGG) c.4983-7_4983-6insGGGTGTGTTTGGGGGG (n.4983-7_4983-6insGGGTGTGTTTGGGGGG) | |
15 | g.28141637T>A | CA2803510925 | HERC2 | c.11817-7A>T (n.11817-7A>T) c.3528-7A>T (n.3528-7A>T) c.11703-7A>T (n.11703-7A>T) c.11802-7A>T (n.11802-7A>T) c.11559-7A>T (n.11559-7A>T) c.11334-7A>T (n.11334-7A>T) c.9333-7A>T (n.9333-7A>T) c.8562-7A>T (n.8562-7A>T) c.5934-7A>T (n.5934-7A>T) c.4983-7A>T (n.4983-7A>T) | |
15 | g.28141637T>C | CA711722772 | HERC2 | c.11817-7A>G (n.11817-7A>G) c.3528-7A>G (n.3528-7A>G) c.11703-7A>G (n.11703-7A>G) c.11802-7A>G (n.11802-7A>G) c.11559-7A>G (n.11559-7A>G) c.11334-7A>G (n.11334-7A>G) c.9333-7A>G (n.9333-7A>G) c.8562-7A>G (n.8562-7A>G) c.5934-7A>G (n.5934-7A>G) c.4983-7A>G (n.4983-7A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141637T= | CA2166479978 | HERC2 | c.11817-7A= (n.11817-7A=) c.3528-7A= (n.3528-7A=) c.11703-7A= (n.11703-7A=) c.11802-7A= (n.11802-7A=) c.11559-7A= (n.11559-7A=) c.11334-7A= (n.11334-7A=) c.9333-7A= (n.9333-7A=) c.8562-7A= (n.8562-7A=) c.5934-7A= (n.5934-7A=) c.4983-7A= (n.4983-7A=) | |
15 | g.28141637_28141639del | CA2520223343 | HERC2 | c.11817-9_11817-7del (n.11817-9_11817-7del) c.3528-9_3528-7del (n.3528-9_3528-7del) c.11703-9_11703-7del (n.11703-9_11703-7del) c.11802-9_11802-7del (n.11802-9_11802-7del) c.11559-9_11559-7del (n.11559-9_11559-7del) c.11334-9_11334-7del (n.11334-9_11334-7del) c.9333-9_9333-7del (n.9333-9_9333-7del) c.8562-9_8562-7del (n.8562-9_8562-7del) c.5934-9_5934-7del (n.5934-9_5934-7del) c.4983-9_4983-7del (n.4983-9_4983-7del) | |
15 | g.28141638A= | CA2166479979 | HERC2 | c.11817-8T= (n.11817-8T=) c.3528-8T= (n.3528-8T=) c.11703-8T= (n.11703-8T=) c.11802-8T= (n.11802-8T=) c.11559-8T= (n.11559-8T=) c.11334-8T= (n.11334-8T=) c.9333-8T= (n.9333-8T=) c.8562-8T= (n.8562-8T=) c.5934-8T= (n.5934-8T=) c.4983-8T= (n.4983-8T=) | |
15 | g.28141638A>C | CA7440447 | HERC2 | c.11817-8T>G (n.11817-8T>G) c.3528-8T>G (n.3528-8T>G) c.11703-8T>G (n.11703-8T>G) c.11802-8T>G (n.11802-8T>G) c.11559-8T>G (n.11559-8T>G) c.11334-8T>G (n.11334-8T>G) c.9333-8T>G (n.9333-8T>G) c.8562-8T>G (n.8562-8T>G) c.5934-8T>G (n.5934-8T>G) c.4983-8T>G (n.4983-8T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141639C>T | CA2575653887 | HERC2 | c.11817-9G>A (n.11817-9G>A) c.3528-9G>A (n.3528-9G>A) c.11703-9G>A (n.11703-9G>A) c.11802-9G>A (n.11802-9G>A) c.11559-9G>A (n.11559-9G>A) c.11334-9G>A (n.11334-9G>A) c.9333-9G>A (n.9333-9G>A) c.8562-9G>A (n.8562-9G>A) c.5934-9G>A (n.5934-9G>A) c.4983-9G>A (n.4983-9G>A) | |
15 | g.28141640A>G | CA2627386252 | HERC2 | c.11817-10T>C (n.11817-10T>C) c.3528-10T>C (n.3528-10T>C) c.11703-10T>C (n.11703-10T>C) c.11802-10T>C (n.11802-10T>C) c.11559-10T>C (n.11559-10T>C) c.11334-10T>C (n.11334-10T>C) c.9333-10T>C (n.9333-10T>C) c.8562-10T>C (n.8562-10T>C) c.5934-10T>C (n.5934-10T>C) c.4983-10T>C (n.4983-10T>C) | gnomAD v4 |
15 | g.28141641C= | CA2166479980 | HERC2 | c.11817-11G= (n.11817-11G=) c.3528-11G= (n.3528-11G=) c.11703-11G= (n.11703-11G=) c.11802-11G= (n.11802-11G=) c.11559-11G= (n.11559-11G=) c.11334-11G= (n.11334-11G=) c.9333-11G= (n.9333-11G=) c.8562-11G= (n.8562-11G=) c.5934-11G= (n.5934-11G=) c.4983-11G= (n.4983-11G=) | |
15 | g.28141641C>T | CA7440448 | HERC2 | c.11817-11G>A (n.11817-11G>A) c.3528-11G>A (n.3528-11G>A) c.11703-11G>A (n.11703-11G>A) c.11802-11G>A (n.11802-11G>A) c.11559-11G>A (n.11559-11G>A) c.11334-11G>A (n.11334-11G>A) c.9333-11G>A (n.9333-11G>A) c.8562-11G>A (n.8562-11G>A) c.5934-11G>A (n.5934-11G>A) c.4983-11G>A (n.4983-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141642A>G | CA2627386253 | HERC2 | c.11817-12T>C (n.11817-12T>C) c.3528-12T>C (n.3528-12T>C) c.11703-12T>C (n.11703-12T>C) c.11802-12T>C (n.11802-12T>C) c.11559-12T>C (n.11559-12T>C) c.11334-12T>C (n.11334-12T>C) c.9333-12T>C (n.9333-12T>C) c.8562-12T>C (n.8562-12T>C) c.5934-12T>C (n.5934-12T>C) c.4983-12T>C (n.4983-12T>C) | gnomAD v4 |
15 | g.28141643T>C | CA7440449 | HERC2 | c.11817-13A>G (n.11817-13A>G) c.3528-13A>G (n.3528-13A>G) c.11703-13A>G (n.11703-13A>G) c.11802-13A>G (n.11802-13A>G) c.11559-13A>G (n.11559-13A>G) c.11334-13A>G (n.11334-13A>G) c.9333-13A>G (n.9333-13A>G) c.8562-13A>G (n.8562-13A>G) c.5934-13A>G (n.5934-13A>G) c.4983-13A>G (n.4983-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141643T= | CA2166479982 | HERC2 | c.11817-13A= (n.11817-13A=) c.3528-13A= (n.3528-13A=) c.11703-13A= (n.11703-13A=) c.11802-13A= (n.11802-13A=) c.11559-13A= (n.11559-13A=) c.11334-13A= (n.11334-13A=) c.9333-13A= (n.9333-13A=) c.8562-13A= (n.8562-13A=) c.5934-13A= (n.5934-13A=) c.4983-13A= (n.4983-13A=) | |
15 | g.28141644C= | CA2166479984 | HERC2 | c.11817-14G= (n.11817-14G=) c.3528-14G= (n.3528-14G=) c.11703-14G= (n.11703-14G=) c.11802-14G= (n.11802-14G=) c.11559-14G= (n.11559-14G=) c.11334-14G= (n.11334-14G=) c.9333-14G= (n.9333-14G=) c.8562-14G= (n.8562-14G=) c.5934-14G= (n.5934-14G=) c.4983-14G= (n.4983-14G=) | |
15 | g.28141644C>G | CA7440450 | HERC2 | c.11817-14G>C (n.11817-14G>C) c.3528-14G>C (n.3528-14G>C) c.11703-14G>C (n.11703-14G>C) c.11802-14G>C (n.11802-14G>C) c.11559-14G>C (n.11559-14G>C) c.11334-14G>C (n.11334-14G>C) c.9333-14G>C (n.9333-14G>C) c.8562-14G>C (n.8562-14G>C) c.5934-14G>C (n.5934-14G>C) c.4983-14G>C (n.4983-14G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141644C>T | CA2505043594 | HERC2 | c.11817-14G>A (n.11817-14G>A) c.3528-14G>A (n.3528-14G>A) c.11703-14G>A (n.11703-14G>A) c.11802-14G>A (n.11802-14G>A) c.11559-14G>A (n.11559-14G>A) c.11334-14G>A (n.11334-14G>A) c.9333-14G>A (n.9333-14G>A) c.8562-14G>A (n.8562-14G>A) c.5934-14G>A (n.5934-14G>A) c.4983-14G>A (n.4983-14G>A) | |
15 | g.28141645A= | CA2166479986 | HERC2 | c.11817-15T= (n.11817-15T=) c.3528-15T= (n.3528-15T=) c.11703-15T= (n.11703-15T=) c.11802-15T= (n.11802-15T=) c.11559-15T= (n.11559-15T=) c.11334-15T= (n.11334-15T=) c.9333-15T= (n.9333-15T=) c.8562-15T= (n.8562-15T=) c.5934-15T= (n.5934-15T=) c.4983-15T= (n.4983-15T=) | |
15 | g.28141645A>C | CA267946243 | HERC2 | c.11817-15T>G (n.11817-15T>G) c.3528-15T>G (n.3528-15T>G) c.11703-15T>G (n.11703-15T>G) c.11802-15T>G (n.11802-15T>G) c.11559-15T>G (n.11559-15T>G) c.11334-15T>G (n.11334-15T>G) c.9333-15T>G (n.9333-15T>G) c.8562-15T>G (n.8562-15T>G) c.5934-15T>G (n.5934-15T>G) c.4983-15T>G (n.4983-15T>G) | dbSNP |
15 | g.28141646A>G | CA2575653888 | HERC2 | c.11817-16T>C (n.11817-16T>C) c.3528-16T>C (n.3528-16T>C) c.11703-16T>C (n.11703-16T>C) c.11802-16T>C (n.11802-16T>C) c.11559-16T>C (n.11559-16T>C) c.11334-16T>C (n.11334-16T>C) c.9333-16T>C (n.9333-16T>C) c.8562-16T>C (n.8562-16T>C) c.5934-16T>C (n.5934-16T>C) c.4983-16T>C (n.4983-16T>C) | |
15 | g.28141647G>C | CA2627386254 | HERC2 | c.11817-17C>G (n.11817-17C>G) c.3528-17C>G (n.3528-17C>G) c.11703-17C>G (n.11703-17C>G) c.11802-17C>G (n.11802-17C>G) c.11559-17C>G (n.11559-17C>G) c.11334-17C>G (n.11334-17C>G) c.9333-17C>G (n.9333-17C>G) c.8562-17C>G (n.8562-17C>G) c.5934-17C>G (n.5934-17C>G) c.4983-17C>G (n.4983-17C>G) | gnomAD v4 |
15 | g.28141647_28141649del | CA2518445994 | HERC2 | c.11817-19_11817-17del (n.11817-19_11817-17del) c.3528-19_3528-17del (n.3528-19_3528-17del) c.11703-19_11703-17del (n.11703-19_11703-17del) c.11802-19_11802-17del (n.11802-19_11802-17del) c.11559-19_11559-17del (n.11559-19_11559-17del) c.11334-19_11334-17del (n.11334-19_11334-17del) c.9333-19_9333-17del (n.9333-19_9333-17del) c.8562-19_8562-17del (n.8562-19_8562-17del) c.5934-19_5934-17del (n.5934-19_5934-17del) c.4983-19_4983-17del (n.4983-19_4983-17del) | |
15 | g.28141648T>A | CA2627386255 | HERC2 | c.11817-18A>T (n.11817-18A>T) c.3528-18A>T (n.3528-18A>T) c.11703-18A>T (n.11703-18A>T) c.11802-18A>T (n.11802-18A>T) c.11559-18A>T (n.11559-18A>T) c.11334-18A>T (n.11334-18A>T) c.9333-18A>T (n.9333-18A>T) c.8562-18A>T (n.8562-18A>T) c.5934-18A>T (n.5934-18A>T) c.4983-18A>T (n.4983-18A>T) | gnomAD v4 |
15 | g.28141648T>C | CA617086345 | HERC2 | c.11817-18A>G (n.11817-18A>G) c.3528-18A>G (n.3528-18A>G) c.11703-18A>G (n.11703-18A>G) c.11802-18A>G (n.11802-18A>G) c.11559-18A>G (n.11559-18A>G) c.11334-18A>G (n.11334-18A>G) c.9333-18A>G (n.9333-18A>G) c.8562-18A>G (n.8562-18A>G) c.5934-18A>G (n.5934-18A>G) c.4983-18A>G (n.4983-18A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141648T>G | CA2627386256 | HERC2 | c.11817-18A>C (n.11817-18A>C) c.3528-18A>C (n.3528-18A>C) c.11703-18A>C (n.11703-18A>C) c.11802-18A>C (n.11802-18A>C) c.11559-18A>C (n.11559-18A>C) c.11334-18A>C (n.11334-18A>C) c.9333-18A>C (n.9333-18A>C) c.8562-18A>C (n.8562-18A>C) c.5934-18A>C (n.5934-18A>C) c.4983-18A>C (n.4983-18A>C) | gnomAD v4 |
15 | g.28141648T= | CA2166479989 | HERC2 | c.11817-18A= (n.11817-18A=) c.3528-18A= (n.3528-18A=) c.11703-18A= (n.11703-18A=) c.11802-18A= (n.11802-18A=) c.11559-18A= (n.11559-18A=) c.11334-18A= (n.11334-18A=) c.9333-18A= (n.9333-18A=) c.8562-18A= (n.8562-18A=) c.5934-18A= (n.5934-18A=) c.4983-18A= (n.4983-18A=) | |
15 | g.28141649G>T | CA2730535693 | HERC2 | c.11817-19C>A (n.11817-19C>A) c.3528-19C>A (n.3528-19C>A) c.11703-19C>A (n.11703-19C>A) c.11802-19C>A (n.11802-19C>A) c.11559-19C>A (n.11559-19C>A) c.11334-19C>A (n.11334-19C>A) c.9333-19C>A (n.9333-19C>A) c.8562-19C>A (n.8562-19C>A) c.5934-19C>A (n.5934-19C>A) c.4983-19C>A (n.4983-19C>A) | dbSNP |
15 | g.28141650_28141651insAA | CA2550661752 | HERC2 | c.11817-20_11817-19insTT (n.11817-20_11817-19insTT) c.3528-20_3528-19insTT (n.3528-20_3528-19insTT) c.11703-20_11703-19insTT (n.11703-20_11703-19insTT) c.11802-20_11802-19insTT (n.11802-20_11802-19insTT) c.11559-20_11559-19insTT (n.11559-20_11559-19insTT) c.11334-20_11334-19insTT (n.11334-20_11334-19insTT) c.9333-20_9333-19insTT (n.9333-20_9333-19insTT) c.8562-20_8562-19insTT (n.8562-20_8562-19insTT) c.5934-20_5934-19insTT (n.5934-20_5934-19insTT) c.4983-20_4983-19insTT (n.4983-20_4983-19insTT) | |
15 | g.28141651G>A | CA7440451 | HERC2 | c.11817-21C>T (n.11817-21C>T) c.3528-21C>T (n.3528-21C>T) c.11703-21C>T (n.11703-21C>T) c.11802-21C>T (n.11802-21C>T) c.11559-21C>T (n.11559-21C>T) c.11334-21C>T (n.11334-21C>T) c.9333-21C>T (n.9333-21C>T) c.8562-21C>T (n.8562-21C>T) c.5934-21C>T (n.5934-21C>T) c.4983-21C>T (n.4983-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141651G= | CA2166479992 | HERC2 | c.11817-21C= (n.11817-21C=) c.3528-21C= (n.3528-21C=) c.11703-21C= (n.11703-21C=) c.11802-21C= (n.11802-21C=) c.11559-21C= (n.11559-21C=) c.11334-21C= (n.11334-21C=) c.9333-21C= (n.9333-21C=) c.8562-21C= (n.8562-21C=) c.5934-21C= (n.5934-21C=) c.4983-21C= (n.4983-21C=) | |
15 | g.28141654T>A | CA2509927649 | HERC2 | c.11817-24A>T (n.11817-24A>T) c.3528-24A>T (n.3528-24A>T) c.11703-24A>T (n.11703-24A>T) c.11802-24A>T (n.11802-24A>T) c.11559-24A>T (n.11559-24A>T) c.11334-24A>T (n.11334-24A>T) c.9333-24A>T (n.9333-24A>T) c.8562-24A>T (n.8562-24A>T) c.5934-24A>T (n.5934-24A>T) c.4983-24A>T (n.4983-24A>T) | |
15 | g.28141654T>C | CA267946246 | HERC2 | c.11817-24A>G (n.11817-24A>G) c.3528-24A>G (n.3528-24A>G) c.11703-24A>G (n.11703-24A>G) c.11802-24A>G (n.11802-24A>G) c.11559-24A>G (n.11559-24A>G) c.11334-24A>G (n.11334-24A>G) c.9333-24A>G (n.9333-24A>G) c.8562-24A>G (n.8562-24A>G) c.5934-24A>G (n.5934-24A>G) c.4983-24A>G (n.4983-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141654T= | CA2166479994 | HERC2 | c.11817-24A= (n.11817-24A=) c.3528-24A= (n.3528-24A=) c.11703-24A= (n.11703-24A=) c.11802-24A= (n.11802-24A=) c.11559-24A= (n.11559-24A=) c.11334-24A= (n.11334-24A=) c.9333-24A= (n.9333-24A=) c.8562-24A= (n.8562-24A=) c.5934-24A= (n.5934-24A=) c.4983-24A= (n.4983-24A=) | |
15 | g.28141655T>C | CA2590319506 | HERC2 | c.11817-25A>G (n.11817-25A>G) c.3528-25A>G (n.3528-25A>G) c.11703-25A>G (n.11703-25A>G) c.11802-25A>G (n.11802-25A>G) c.11559-25A>G (n.11559-25A>G) c.11334-25A>G (n.11334-25A>G) c.9333-25A>G (n.9333-25A>G) c.8562-25A>G (n.8562-25A>G) c.5934-25A>G (n.5934-25A>G) c.4983-25A>G (n.4983-25A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141656T>C | CA2627386257 | HERC2 | c.11817-26A>G (n.11817-26A>G) c.3528-26A>G (n.3528-26A>G) c.11703-26A>G (n.11703-26A>G) c.11802-26A>G (n.11802-26A>G) c.11559-26A>G (n.11559-26A>G) c.11334-26A>G (n.11334-26A>G) c.9333-26A>G (n.9333-26A>G) c.8562-26A>G (n.8562-26A>G) c.5934-26A>G (n.5934-26A>G) c.4983-26A>G (n.4983-26A>G) | gnomAD v4 |
15 | g.28141657G>T | CA2575653889 | HERC2 | c.11817-27C>A (n.11817-27C>A) c.3528-27C>A (n.3528-27C>A) c.11703-27C>A (n.11703-27C>A) c.11802-27C>A (n.11802-27C>A) c.11559-27C>A (n.11559-27C>A) c.11334-27C>A (n.11334-27C>A) c.9333-27C>A (n.9333-27C>A) c.8562-27C>A (n.8562-27C>A) c.5934-27C>A (n.5934-27C>A) c.4983-27C>A (n.4983-27C>A) | gnomAD v4 |
15 | g.28141657dup | CA2627386258 | HERC2 | c.11817-27dup (n.11817-27dup) c.3528-27dup (n.3528-27dup) c.11703-27dup (n.11703-27dup) c.11802-27dup (n.11802-27dup) c.11559-27dup (n.11559-27dup) c.11334-27dup (n.11334-27dup) c.9333-27dup (n.9333-27dup) c.8562-27dup (n.8562-27dup) c.5934-27dup (n.5934-27dup) c.4983-27dup (n.4983-27dup) | gnomAD v4 |
15 | g.28141658C>A | CA2566532591 | HERC2 | c.11817-28G>T (n.11817-28G>T) c.3528-28G>T (n.3528-28G>T) c.11703-28G>T (n.11703-28G>T) c.11802-28G>T (n.11802-28G>T) c.11559-28G>T (n.11559-28G>T) c.11334-28G>T (n.11334-28G>T) c.9333-28G>T (n.9333-28G>T) c.8562-28G>T (n.8562-28G>T) c.5934-28G>T (n.5934-28G>T) c.4983-28G>T (n.4983-28G>T) | |
15 | g.28141658C= | CA2166479996 | HERC2 | c.11817-28G= (n.11817-28G=) c.3528-28G= (n.3528-28G=) c.11703-28G= (n.11703-28G=) c.11802-28G= (n.11802-28G=) c.11559-28G= (n.11559-28G=) c.11334-28G= (n.11334-28G=) c.9333-28G= (n.9333-28G=) c.8562-28G= (n.8562-28G=) c.5934-28G= (n.5934-28G=) c.4983-28G= (n.4983-28G=) | |
15 | g.28141658C>T | CA968025781 | HERC2 | c.11817-28G>A (n.11817-28G>A) c.3528-28G>A (n.3528-28G>A) c.11703-28G>A (n.11703-28G>A) c.11802-28G>A (n.11802-28G>A) c.11559-28G>A (n.11559-28G>A) c.11334-28G>A (n.11334-28G>A) c.9333-28G>A (n.9333-28G>A) c.8562-28G>A (n.8562-28G>A) c.5934-28G>A (n.5934-28G>A) c.4983-28G>A (n.4983-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141659C>G | CA2627386259 | HERC2 | c.11817-29G>C (n.11817-29G>C) c.3528-29G>C (n.3528-29G>C) c.11703-29G>C (n.11703-29G>C) c.11802-29G>C (n.11802-29G>C) c.11559-29G>C (n.11559-29G>C) c.11334-29G>C (n.11334-29G>C) c.9333-29G>C (n.9333-29G>C) c.8562-29G>C (n.8562-29G>C) c.5934-29G>C (n.5934-29G>C) c.4983-29G>C (n.4983-29G>C) | gnomAD v4 |
15 | g.28141660A= | CA2166479997 | HERC2 | c.11817-30T= (n.11817-30T=) c.3528-30T= (n.3528-30T=) c.11703-30T= (n.11703-30T=) c.11802-30T= (n.11802-30T=) c.11559-30T= (n.11559-30T=) c.11334-30T= (n.11334-30T=) c.9333-30T= (n.9333-30T=) c.8562-30T= (n.8562-30T=) c.5934-30T= (n.5934-30T=) c.4983-30T= (n.4983-30T=) | |
15 | g.28141660A>G | CA7440452 | HERC2 | c.11817-30T>C (n.11817-30T>C) c.3528-30T>C (n.3528-30T>C) c.11703-30T>C (n.11703-30T>C) c.11802-30T>C (n.11802-30T>C) c.11559-30T>C (n.11559-30T>C) c.11334-30T>C (n.11334-30T>C) c.9333-30T>C (n.9333-30T>C) c.8562-30T>C (n.8562-30T>C) c.5934-30T>C (n.5934-30T>C) c.4983-30T>C (n.4983-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141661T>A | CA7440454 | HERC2 | c.11817-31A>T (n.11817-31A>T) c.3528-31A>T (n.3528-31A>T) c.11703-31A>T (n.11703-31A>T) c.11802-31A>T (n.11802-31A>T) c.11559-31A>T (n.11559-31A>T) c.11334-31A>T (n.11334-31A>T) c.9333-31A>T (n.9333-31A>T) c.8562-31A>T (n.8562-31A>T) c.5934-31A>T (n.5934-31A>T) c.4983-31A>T (n.4983-31A>T) | dbSNP ExAC |
15 | g.28141661T>C | CA7440453 | HERC2 | c.11817-31A>G (n.11817-31A>G) c.3528-31A>G (n.3528-31A>G) c.11703-31A>G (n.11703-31A>G) c.11802-31A>G (n.11802-31A>G) c.11559-31A>G (n.11559-31A>G) c.11334-31A>G (n.11334-31A>G) c.9333-31A>G (n.9333-31A>G) c.8562-31A>G (n.8562-31A>G) c.5934-31A>G (n.5934-31A>G) c.4983-31A>G (n.4983-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141661T= | CA2166479999 | HERC2 | c.11817-31A= (n.11817-31A=) c.3528-31A= (n.3528-31A=) c.11703-31A= (n.11703-31A=) c.11802-31A= (n.11802-31A=) c.11559-31A= (n.11559-31A=) c.11334-31A= (n.11334-31A=) c.9333-31A= (n.9333-31A=) c.8562-31A= (n.8562-31A=) c.5934-31A= (n.5934-31A=) c.4983-31A= (n.4983-31A=) | |
15 | g.28141663G>T | CA2730535742 | HERC2 | c.11817-33C>A (n.11817-33C>A) c.3528-33C>A (n.3528-33C>A) c.11703-33C>A (n.11703-33C>A) c.11802-33C>A (n.11802-33C>A) c.11559-33C>A (n.11559-33C>A) c.11334-33C>A (n.11334-33C>A) c.9333-33C>A (n.9333-33C>A) c.8562-33C>A (n.8562-33C>A) c.5934-33C>A (n.5934-33C>A) c.4983-33C>A (n.4983-33C>A) | dbSNP |
15 | g.28141664G>A | CA2803510926 | HERC2 | c.11817-34C>T (n.11817-34C>T) c.3528-34C>T (n.3528-34C>T) c.11703-34C>T (n.11703-34C>T) c.11802-34C>T (n.11802-34C>T) c.11559-34C>T (n.11559-34C>T) c.11334-34C>T (n.11334-34C>T) c.9333-34C>T (n.9333-34C>T) c.8562-34C>T (n.8562-34C>T) c.5934-34C>T (n.5934-34C>T) c.4983-34C>T (n.4983-34C>T) | |
15 | g.28141665del | CA2563601918 | HERC2 | c.11817-35del (n.11817-35del) c.3528-35del (n.3528-35del) c.11703-35del (n.11703-35del) c.11802-35del (n.11802-35del) c.11559-35del (n.11559-35del) c.11334-35del (n.11334-35del) c.9333-35del (n.9333-35del) c.8562-35del (n.8562-35del) c.5934-35del (n.5934-35del) c.4983-35del (n.4983-35del) | |
15 | g.28141665C>A | CA2627386260 | HERC2 | c.11817-35G>T (n.11817-35G>T) c.3528-35G>T (n.3528-35G>T) c.11703-35G>T (n.11703-35G>T) c.11802-35G>T (n.11802-35G>T) c.11559-35G>T (n.11559-35G>T) c.11334-35G>T (n.11334-35G>T) c.9333-35G>T (n.9333-35G>T) c.8562-35G>T (n.8562-35G>T) c.5934-35G>T (n.5934-35G>T) c.4983-35G>T (n.4983-35G>T) | gnomAD v4 |
15 | g.28141665C= | CA2166480002 | HERC2 | c.11817-35G= (n.11817-35G=) c.3528-35G= (n.3528-35G=) c.11703-35G= (n.11703-35G=) c.11802-35G= (n.11802-35G=) c.11559-35G= (n.11559-35G=) c.11334-35G= (n.11334-35G=) c.9333-35G= (n.9333-35G=) c.8562-35G= (n.8562-35G=) c.5934-35G= (n.5934-35G=) c.4983-35G= (n.4983-35G=) | |
15 | g.28141665C>G | CA267946274 | HERC2 | c.11817-35G>C (n.11817-35G>C) c.3528-35G>C (n.3528-35G>C) c.11703-35G>C (n.11703-35G>C) c.11802-35G>C (n.11802-35G>C) c.11559-35G>C (n.11559-35G>C) c.11334-35G>C (n.11334-35G>C) c.9333-35G>C (n.9333-35G>C) c.8562-35G>C (n.8562-35G>C) c.5934-35G>C (n.5934-35G>C) c.4983-35G>C (n.4983-35G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141665C>T | CA7440455 | HERC2 | c.11817-35G>A (n.11817-35G>A) c.3528-35G>A (n.3528-35G>A) c.11703-35G>A (n.11703-35G>A) c.11802-35G>A (n.11802-35G>A) c.11559-35G>A (n.11559-35G>A) c.11334-35G>A (n.11334-35G>A) c.9333-35G>A (n.9333-35G>A) c.8562-35G>A (n.8562-35G>A) c.5934-35G>A (n.5934-35G>A) c.4983-35G>A (n.4983-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141668G>A | CA2627386261 | HERC2 | c.11817-38C>T (n.11817-38C>T) c.3528-38C>T (n.3528-38C>T) c.11703-38C>T (n.11703-38C>T) c.11802-38C>T (n.11802-38C>T) c.11559-38C>T (n.11559-38C>T) c.11334-38C>T (n.11334-38C>T) c.9333-38C>T (n.9333-38C>T) c.8562-38C>T (n.8562-38C>T) c.5934-38C>T (n.5934-38C>T) c.4983-38C>T (n.4983-38C>T) | gnomAD v4 |
15 | g.28141668G= | CA2166480004 | HERC2 | c.11817-38C= (n.11817-38C=) c.3528-38C= (n.3528-38C=) c.11703-38C= (n.11703-38C=) c.11802-38C= (n.11802-38C=) c.11559-38C= (n.11559-38C=) c.11334-38C= (n.11334-38C=) c.9333-38C= (n.9333-38C=) c.8562-38C= (n.8562-38C=) c.5934-38C= (n.5934-38C=) c.4983-38C= (n.4983-38C=) | |
15 | g.28141668G>T | CA711722796 | HERC2 | c.11817-38C>A (n.11817-38C>A) c.3528-38C>A (n.3528-38C>A) c.11703-38C>A (n.11703-38C>A) c.11802-38C>A (n.11802-38C>A) c.11559-38C>A (n.11559-38C>A) c.11334-38C>A (n.11334-38C>A) c.9333-38C>A (n.9333-38C>A) c.8562-38C>A (n.8562-38C>A) c.5934-38C>A (n.5934-38C>A) c.4983-38C>A (n.4983-38C>A) | dbSNP |
15 | g.28141673_28141679del | CA2575653890 | HERC2 | c.11817-46_11817-40del (n.11817-46_11817-40del) c.3528-46_3528-40del (n.3528-46_3528-40del) c.11703-46_11703-40del (n.11703-46_11703-40del) c.11802-46_11802-40del (n.11802-46_11802-40del) c.11559-46_11559-40del (n.11559-46_11559-40del) c.11334-46_11334-40del (n.11334-46_11334-40del) c.9333-46_9333-40del (n.9333-46_9333-40del) c.8562-46_8562-40del (n.8562-46_8562-40del) c.5934-46_5934-40del (n.5934-46_5934-40del) c.4983-46_4983-40del (n.4983-46_4983-40del) |