Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418518_219418537del | CA2663248758 | DES | c.56_75del (p.Gly19AlafsTer18) | gnomAD v4 |
2 | g.219418527dup | CA2663248807 | DES | c.65dup (p.Phe24LeufsTer20) | gnomAD v4 |
2 | g.219418527del | CA2663248809 | DES | c.65del (p.Pro22ArgfsTer9) | gnomAD v4 |
2 | g.219418527C>A | CA350682575 | DES | c.65C>A (p.Pro22Gln) | gnomAD v4 |
2 | g.219418527C= | CA1329209833 | DES | c.65C= (p.Pro22=) | |
2 | g.219418527C>G | CA2125012 | DES | c.65C>G (p.Pro22Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418527C>T | CA350682577 | DES | c.65C>T (p.Pro22Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418528G>A | CA2125013 | DES | c.66G>A (p.Pro22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418528G>C | CA431427432 | DES | c.66G>C (p.Pro22=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418528G= | CA1329209834 | DES | c.66G= (p.Pro22=) | |
2 | g.219418528G>T | CA431427433 | DES | c.66G>T (p.Pro22=) | gnomAD v4 |
2 | g.219418530del | CA2663248851 | DES | c.68del (p.Gly23AlafsTer8) | gnomAD v4 |
2 | g.219418529G>A | CA350682590 | DES | c.67G>A (p.Gly23Ser) | |
2 | g.219418529G>C | CA350682594 | DES | c.67G>C (p.Gly23Arg) | |
2 | g.219418529G>T | CA350682585 | DES | c.67G>T (p.Gly23Cys) | gnomAD v4 |
2 | g.219418536_219418537insGCTCGGCTTCCC | CA2754326337 | DES | c.74_75insGCTCGGCTTCCC (p.Pro25_Leu26insLeuGlyPhePro) | |
2 | g.219418533_219418544del | CA2663248857 | DES | c.71_82del (p.Phe24_Gly27del) | gnomAD v4 |
2 | g.219418530G>A | CA2125014 | DES | c.68G>A (p.Gly23Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418530G>C | CA350682602 | DES | c.68G>C (p.Gly23Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418530G= | CA1329209835 | DES | c.68G= (p.Gly23=) | |
2 | g.219418530G>T | CA65980613 | DES | c.68G>T (p.Gly23Val) | dbSNP gnomAD v4 |
2 | g.219418531C>A | CA431427434 | DES | c.69C>A (p.Gly23=) | gnomAD v4 |
2 | g.219418531C>G | CA431427435 | DES | c.69C>G (p.Gly23=) | |
2 | g.219418531C>T | CA431427436 | DES | c.69C>T (p.Gly23=) | |
2 | g.219418532T>A | CA350682603 | DES | c.70T>A (p.Phe24Ile) | |
2 | g.219418532T>C | CA350682605 | DES | c.70T>C (p.Phe24Leu) | |
2 | g.219418532T>G | CA350682604 | DES | c.70T>G (p.Phe24Val) | |
2 | g.219418533T>A | CA350682615 | DES | c.71T>A (p.Phe24Tyr) | |
2 | g.219418533T>C | CA350682618 | DES | c.71T>C (p.Phe24Ser) | |
2 | g.219418533T>G | CA350682622 | DES | c.71T>G (p.Phe24Cys) | |
2 | g.219418533T= | CA1329209836 | DES | c.71T= (p.Phe24=) | |
2 | g.219418534C>A | CA350682626 | DES | c.72C>A (p.Phe24Leu) | gnomAD v4 |
2 | g.219418534C>G | CA350682628 | DES | c.72C>G (p.Phe24Leu) | |
2 | g.219418534C>T | CA431427437 | DES | c.72C>T (p.Phe24=) | |
2 | g.219418536_219418537insGCTCGGCTCCCC | CA539843107 | DES | c.74_75insGCTCGGCTCCCC (p.Pro25_Leu26insLeuGlySerPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418535C>A | CA350682633 | DES | c.73C>A (p.Pro25Thr) | |
2 | g.219418535C= | CA1329209837 | DES | c.73C= (p.Pro25=) | |
2 | g.219418535C>G | CA350682640 | DES | c.73C>G (p.Pro25Ala) | ClinVar |
2 | g.219418535C>T | CA350682642 | DES | c.73C>T (p.Pro25Ser) | dbSNP gnomAD v2 |
2 | g.219418536C>A | CA2125015 | DES | c.74C>A (p.Pro25Gln) | dbSNP ExAC gnomAD v4 |
2 | g.219418536C= | CA1329209838 | DES | c.74C= (p.Pro25=) | |
2 | g.219418536C>G | CA350682648 | DES | c.74C>G (p.Pro25Arg) | gnomAD v4 |
2 | g.219418536C>T | CA350682650 | DES | c.74C>T (p.Pro25Leu) | gnomAD v4 |
2 | g.219418536_219418537delinsTG | CA2573135504 | DES | c.74_75delinsTG (p.Pro25Leu) | ClinVar |
2 | g.219418537A= | CA180796 | DES | c.75A= (p.Pro25=) | |
2 | g.219418537A>C | CA431427438 | DES | c.75A>C (p.Pro25=) | dbSNP |
2 | g.219418537A>G | CA282355 | DES | c.75A>G (p.Pro25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418537A>T | CA431427439 | DES | c.75A>T (p.Pro25=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418538C>A | CA350682673 | DES | c.76C>A (p.Leu26Ile) | gnomAD v4 |
2 | g.219418538C>G | CA350682686 | DES | c.76C>G (p.Leu26Val) | |
2 | g.219418538C>T | CA350682677 | DES | c.76C>T (p.Leu26Phe) | |
2 | g.219418539T>A | CA16617476 | DES | c.77T>A (p.Leu26His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418539T>C | CA350682691 | DES | c.77T>C (p.Leu26Pro) | gnomAD v4 |
2 | g.219418539T>G | CA350682696 | DES | c.77T>G (p.Leu26Arg) | |
2 | g.219418539T= | CA1329209839 | DES | c.77T= (p.Leu26=) | |
2 | g.219418540C>A | CA431427442 | DES | c.78C>A (p.Leu26=) | gnomAD v4 |
2 | g.219418540C= | CA1329209840 | DES | c.78C= (p.Leu26=) | |
2 | g.219418540C>G | CA431427440 | DES | c.78C>G (p.Leu26=) | ClinVar dbSNP |
2 | g.219418540C>T | CA431427441 | DES | c.78C>T (p.Leu26=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418541G>A | CA184448 | DES | c.79G>A (p.Gly27Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418541G>C | CA350682707 | DES | c.79G>C (p.Gly27Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.219418541G= | CA1329209841 | DES | c.79G= (p.Gly27=) | |
2 | g.219418541G>T | CA350682711 | DES | c.79G>T (p.Gly27Cys) | |
2 | g.219418542G>A | CA350682712 | DES | c.80G>A (p.Gly27Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.219418542G>C | CA350682713 | DES | c.80G>C (p.Gly27Ala) | |
2 | g.219418542G= | CA1329209842 | DES | c.80G= (p.Gly27=) | |
2 | g.219418542G>T | CA350682715 | DES | c.80G>T (p.Gly27Val) | gnomAD v4 COSMIC |
2 | g.219418543C>A | CA431427443 | DES | c.81C>A (p.Gly27=) | gnomAD v4 |
2 | g.219418543C= | CA1329209843 | DES | c.81C= (p.Gly27=) | |
2 | g.219418543C>G | CA431427444 | DES | c.81C>G (p.Gly27=) | |
2 | g.219418543C>T | CA431427445 | DES | c.81C>T (p.Gly27=) | dbSNP gnomAD v4 |
2 | g.219418544T>A | CA350682727 | DES | c.82T>A (p.Ser28Thr) | |
2 | g.219418544T>C | CA350682721 | DES | c.82T>C (p.Ser28Pro) | gnomAD v4 |
2 | g.219418544T>G | CA350682716 | DES | c.82T>G (p.Ser28Ala) | |
2 | g.219418545C>A | CA350682730 | DES | c.83C>A (p.Ser28Tyr) | gnomAD v4 |
2 | g.219418545C= | CA1329209844 | DES | c.83C= (p.Ser28=) | |
2 | g.219418545C>G | CA350682734 | DES | c.83C>G (p.Ser28Cys) | |
2 | g.219418545C>T | CA350682745 | DES | c.83C>T (p.Ser28Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418546C>A | CA431427446 | DES | c.84C>A (p.Ser28=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418546C= | CA1329209845 | DES | c.84C= (p.Ser28=) | |
2 | g.219418546C>G | CA431427448 | DES | c.84C>G (p.Ser28=) | |
2 | g.219418546C>T | CA431427447 | DES | c.84C>T (p.Ser28=) | |
2 | g.219418551_219418571del | CA2577252443 | DES | c.89_109del (p.Leu30_Pro36del) | gnomAD v4 |
2 | g.219418547C>A | CA350682746 | DES | c.85C>A (p.Pro29Thr) | gnomAD v4 |
2 | g.219418547C>G | CA350682747 | DES | c.85C>G (p.Pro29Ala) | |
2 | g.219418547C>T | CA350682748 | DES | c.85C>T (p.Pro29Ser) | gnomAD v4 |
2 | g.219418548C>A | CA350682753 | DES | c.86C>A (p.Pro29Gln) | gnomAD v4 |
2 | g.219418548C= | CA1329209846 | DES | c.86C= (p.Pro29=) | |
2 | g.219418548C>G | CA350682749 | DES | c.86C>G (p.Pro29Arg) | ClinVar gnomAD v4 |
2 | g.219418548C>T | CA350682752 | DES | c.86C>T (p.Pro29Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418549G>A | CA431427449 | DES | c.87G>A (p.Pro29=) | gnomAD v4 |
2 | g.219418549G>C | CA431427450 | DES | c.87G>C (p.Pro29=) | COSMIC |
2 | g.219418549G>T | CA431427451 | DES | c.87G>T (p.Pro29=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418550C>A | CA350682763 | DES | c.88C>A (p.Leu30Met) | gnomAD v4 |
2 | g.219418550C= | CA1329209847 | DES | c.88C= (p.Leu30=) | |
2 | g.219418550C>G | CA350682771 | DES | c.88C>G (p.Leu30Val) | |
2 | g.219418550C>T | CA431427452 | DES | c.88C>T (p.Leu30=) | ClinVar dbSNP |
2 | g.219418551T>A | CA350682797 | DES | c.89T>A (p.Leu30Gln) | |
2 | g.219418551T>C | CA350682800 | DES | c.89T>C (p.Leu30Pro) | gnomAD v4 |
2 | g.219418551T>G | CA350682802 | DES | c.89T>G (p.Leu30Arg) | |
2 | g.219418552G>A | CA431427453 | DES | c.90G>A (p.Leu30=) | |
2 | g.219418552G>C | CA431427454 | DES | c.90G>C (p.Leu30=) | |
2 | g.219418552G>T | CA431427455 | DES | c.90G>T (p.Leu30=) | |
2 | g.219418553A= | CA1329209848 | DES | c.91A= (p.Ser31=) | |
2 | g.219418553A>C | CA350682807 | DES | c.91A>C (p.Ser31Arg) | |
2 | g.219418553A>G | CA350682825 | DES | c.91A>G (p.Ser31Gly) | |
2 | g.219418553A>T | CA350682818 | DES | c.91A>T (p.Ser31Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418554G>A | CA65980645 | DES | c.92G>A (p.Ser31Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418554G>C | CA350682830 | DES | c.92G>C (p.Ser31Thr) | |
2 | g.219418554G= | CA1329209849 | DES | c.92G= (p.Ser31=) | |
2 | g.219418554G>T | CA350682831 | DES | c.92G>T (p.Ser31Ile) | gnomAD v4 |
2 | g.219418554_219418555insC | CA1329209850 | DES | c.92_93insC (p.Ser32PhefsTer12) | dbSNP |
2 | g.219418555T>A | CA350682844 | DES | c.93T>A (p.Ser31Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418555T>C | CA282356 | DES | c.93T>C (p.Ser31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418555T>G | CA2125016 | DES | c.93T>G (p.Ser31Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418555T= | CA180799 | DES | c.93T= (p.Ser31=) | |
2 | g.219418555_219418556insCGCCCCCCCGCTGAGC | CA1329209851 | DES | c.93_94insCGCCCCCCCGCTGAGC (p.Ser32ArgfsTer17) | dbSNP |
2 | g.219418556T>A | CA350682857 | DES | c.94T>A (p.Ser32Thr) | |
2 | g.219418556T>C | CA350682858 | DES | c.94T>C (p.Ser32Pro) | |
2 | g.219418556T>G | CA350682859 | DES | c.94T>G (p.Ser32Ala) | |
2 | g.219418557C>A | CA350682866 | DES | c.95C>A (p.Ser32Ter) | gnomAD v4 |
2 | g.219418557C>G | CA350682863 | DES | c.95C>G (p.Ser32Trp) | |
2 | g.219418557C>T | CA350682860 | DES | c.95C>T (p.Ser32Leu) | gnomAD v4 |
2 | g.219418558G>A | CA431427456 | DES | c.96G>A (p.Ser32=) | gnomAD v4 |
2 | g.219418558G>C | CA431427457 | DES | c.96G>C (p.Ser32=) | gnomAD v4 |
2 | g.219418558G= | CA1329209852 | DES | c.96G= (p.Ser32=) | |
2 | g.219418558G>T | CA2125017 | DES | c.96G>T (p.Ser32=) | dbSNP ExAC gnomAD v2 |
2 | g.219418559C>A | CA350682868 | DES | c.97C>A (p.Pro33Thr) | |
2 | g.219418559C= | CA1329209853 | DES | c.97C= (p.Pro33=) | |
2 | g.219418559C>G | CA350682877 | DES | c.97C>G (p.Pro33Ala) | |
2 | g.219418559C>T | CA10604899 | DES | c.97C>T (p.Pro33Ser) | ClinVar dbSNP |
2 | g.219418563_219418570dup | CA2663248924 | DES | c.101_108dup (p.Arg37CysfsTer16) | gnomAD v4 |
2 | g.219418560C>A | CA350682882 | DES | c.98C>A (p.Pro33His) | gnomAD v4 |
2 | g.219418560C>G | CA350682883 | DES | c.98C>G (p.Pro33Arg) | |
2 | g.219418560C>T | CA350682884 | DES | c.98C>T (p.Pro33Leu) | gnomAD v4 |
2 | g.219418561C>A | CA431427459 | DES | c.99C>A (p.Pro33=) | gnomAD v4 |
2 | g.219418561C= | CA1329209854 | DES | c.99C= (p.Pro33=) | |
2 | g.219418561C>G | CA431427460 | DES | c.99C>G (p.Pro33=) | gnomAD v4 |
2 | g.219418561C>T | CA2125018 | DES | c.99C>T (p.Pro33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418562G>A | CA2125019 | DES | c.100G>A (p.Val34Met) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.219418562G>C | CA350682888 | DES | c.100G>C (p.Val34Leu) | |
2 | g.219418562G= | CA1329209855 | DES | c.100G= (p.Val34=) | |
2 | g.219418562G>T | CA350682889 | DES | c.100G>T (p.Val34Leu) | gnomAD v4 |
2 | g.219418563T>A | CA350682891 | DES | c.101T>A (p.Val34Glu) | |
2 | g.219418563T>C | CA350682894 | DES | c.101T>C (p.Val34Ala) | |
2 | g.219418563T>G | CA350682902 | DES | c.101T>G (p.Val34Gly) | |
2 | g.219418564G>A | CA431427462 | DES | c.102G>A (p.Val34=) | |
2 | g.219418564G>C | CA431427463 | DES | c.102G>C (p.Val34=) | |
2 | g.219418564G>T | CA431427464 | DES | c.102G>T (p.Val34=) | |
2 | g.219418565T>A | CA350682909 | DES | c.103T>A (p.Phe35Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418565T>C | CA350682905 | DES | c.103T>C (p.Phe35Leu) | ClinVar gnomAD v4 |
2 | g.219418565T>G | CA350682907 | DES | c.103T>G (p.Phe35Val) | gnomAD v3 gnomAD v4 |
2 | g.219418566T>A | CA350682910 | DES | c.104T>A (p.Phe35Tyr) | |
2 | g.219418566T>C | CA350682911 | DES | c.104T>C (p.Phe35Ser) | ClinVar dbSNP |
2 | g.219418566T>G | CA350682912 | DES | c.104T>G (p.Phe35Cys) | |
2 | g.219418566T= | CA1329209856 | DES | c.104T= (p.Phe35=) | |
2 | g.219418567C>A | CA2125020 | DES | c.105C>A (p.Phe35Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418567C= | CA1329209857 | DES | c.105C= (p.Phe35=) | |
2 | g.219418567C>G | CA350682917 | DES | c.105C>G (p.Phe35Leu) | ClinVar dbSNP |
2 | g.219418567C>T | CA431427466 | DES | c.105C>T (p.Phe35=) | |
2 | g.219418568C>A | CA350682925 | DES | c.106C>A (p.Pro36Thr) | gnomAD v4 |
2 | g.219418568C= | CA1329209858 | DES | c.106C= (p.Pro36=) | |
2 | g.219418568C>G | CA350682938 | DES | c.106C>G (p.Pro36Ala) | |
2 | g.219418568C>T | CA350682940 | DES | c.106C>T (p.Pro36Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.219418569C>A | CA350682941 | DES | c.107C>A (p.Pro36Gln) | gnomAD v4 |
2 | g.219418569C= | CA1329209859 | DES | c.107C= (p.Pro36=) | |
2 | g.219418569C>G | CA2125021 | DES | c.107C>G (p.Pro36Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418569C>T | CA350682942 | DES | c.107C>T (p.Pro36Leu) | gnomAD v4 COSMIC |
2 | g.219418570G>A | CA431427469 | DES | c.108G>A (p.Pro36=) | dbSNP gnomAD v4 |
2 | g.219418570G>C | CA431427470 | DES | c.108G>C (p.Pro36=) | |
2 | g.219418570G= | CA1329209860 | DES | c.108G= (p.Pro36=) | |
2 | g.219418570G>T | CA431427472 | DES | c.108G>T (p.Pro36=) | dbSNP gnomAD v4 |
2 | g.219418571C>A | CA431427474 | DES | c.109C>A (p.Arg37=) | ClinVar gnomAD v4 |
2 | g.219418571C= | CA1329209861 | DES | c.109C= (p.Arg37=) | |
2 | g.219418571C>G | CA2125023 | DES | c.109C>G (p.Arg37Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418571C>T | CA2125022 | DES | c.109C>T (p.Arg37Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418572G>A | CA350682943 | DES | c.110G>A (p.Arg37Gln) | |
2 | g.219418572G>C | CA350682945 | DES | c.110G>C (p.Arg37Pro) | |
2 | g.219418572G= | CA1329209862 | DES | c.110G= (p.Arg37=) | |
2 | g.219418572G>T | CA350682944 | DES | c.110G>T (p.Arg37Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418574del | CA2573135505 | DES | c.112del (p.Ala38ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
2 | g.219418573G>A | CA2125024 | DES | c.111G>A (p.Arg37=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418573G>C | CA431427477 | DES | c.111G>C (p.Arg37=) | dbSNP |
2 | g.219418573G= | CA1329209863 | DES | c.111G= (p.Arg37=) | |
2 | g.219418573G>T | CA431427479 | DES | c.111G>T (p.Arg37=) | gnomAD v4 |
2 | g.219418574G>A | CA2125025 | DES | c.112G>A (p.Ala38Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418574G>C | CA350682963 | DES | c.112G>C (p.Ala38Pro) | |
2 | g.219418574G= | CA1329209864 | DES | c.112G= (p.Ala38=) | |
2 | g.219418574G>T | CA350682964 | DES | c.112G>T (p.Ala38Ser) | gnomAD v4 |
2 | g.219418575C>A | CA2125026 | DES | c.113C>A (p.Ala38Glu) | dbSNP ExAC gnomAD v4 |
2 | g.219418575C= | CA1329209865 | DES | c.113C= (p.Ala38=) | |
2 | g.219418575C>G | CA350682968 | DES | c.113C>G (p.Ala38Gly) | |
2 | g.219418575C>T | CA350682975 | DES | c.113C>T (p.Ala38Val) | gnomAD v4 |
2 | g.219418576G>A | CA233898 | DES | c.114G>A (p.Ala38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418576G>C | CA431427481 | DES | c.114G>C (p.Ala38=) | gnomAD v4 |
2 | g.219418576G= | CA1329209866 | DES | c.114G= (p.Ala38=) | |
2 | g.219418576G>T | CA133814 | DES | c.114G>T (p.Ala38=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418577G>A | CA2125027 | DES | c.115G>A (p.Gly39Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418577G>C | CA350682986 | DES | c.115G>C (p.Gly39Arg) | |
2 | g.219418577G= | CA1329209867 | DES | c.115G= (p.Gly39=) | |
2 | g.219418577G>T | CA350682989 | DES | c.115G>T (p.Gly39Cys) | gnomAD v4 |
2 | g.219418578G>A | CA2125028 | DES | c.116G>A (p.Gly39Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418578G>C | CA350682993 | DES | c.116G>C (p.Gly39Ala) | dbSNP |
2 | g.219418578G= | CA1329209868 | DES | c.116G= (p.Gly39=) | |
2 | g.219418578G>T | CA350682996 | DES | c.116G>T (p.Gly39Val) | |
2 | g.219418579T>A | CA431427486 | DES | c.117T>A (p.Gly39=) | |
2 | g.219418579T>C | CA431427485 | DES | c.117T>C (p.Gly39=) | dbSNP |
2 | g.219418579T>G | CA65980740 | DES | c.117T>G (p.Gly39=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418579T= | CA1329209869 | DES | c.117T= (p.Gly39=) | |
2 | g.219418581dup | CA2740096471 | DES | c.119dup (p.Gly41ArgfsTer3) | ClinVar |
2 | g.219418580T>A | CA350683009 | DES | c.118T>A (p.Phe40Ile) | |
2 | g.219418580T>C | CA350683012 | DES | c.118T>C (p.Phe40Leu) | gnomAD v4 |
2 | g.219418580T>G | CA350683017 | DES | c.118T>G (p.Phe40Val) | |
2 | g.219418581T>A | CA350683023 | DES | c.119T>A (p.Phe40Tyr) | |
2 | g.219418581T>C | CA350683030 | DES | c.119T>C (p.Phe40Ser) | ClinVar |
2 | g.219418581T>G | CA350683032 | DES | c.119T>G (p.Phe40Cys) | gnomAD v4 |
2 | g.219418582C>A | CA350683044 | DES | c.120C>A (p.Phe40Leu) | |
2 | g.219418582C= | CA1329209870 | DES | c.120C= (p.Phe40=) | |
2 | g.219418582C>G | CA350683046 | DES | c.120C>G (p.Phe40Leu) | |
2 | g.219418582C>T | CA431427491 | DES | c.120C>T (p.Phe40=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418583G>A | CA2125029 | DES | c.121G>A (p.Gly41Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418583G>C | CA350683078 | DES | c.121G>C (p.Gly41Arg) | |
2 | g.219418583G= | CA1329209871 | DES | c.121G= (p.Gly41=) | |
2 | g.219418583G>T | CA350683080 | DES | c.121G>T (p.Gly41Cys) | gnomAD v4 |
2 | g.219418584del | CA2663249032 | DES | c.122del (p.Gly41AlafsTer9) | gnomAD v4 |
2 | g.219418584G>A | CA350683093 | DES | c.122G>A (p.Gly41Asp) | gnomAD v4 |
2 | g.219418584G>C | CA350683104 | DES | c.122G>C (p.Gly41Ala) | |
2 | g.219418584G>T | CA350683086 | DES | c.122G>T (p.Gly41Val) | gnomAD v4 COSMIC |
2 | g.219418585C>A | CA431427492 | DES | c.123C>A (p.Gly41=) | |
2 | g.219418585C= | CA1329209872 | DES | c.123C= (p.Gly41=) | |
2 | g.219418585C>G | CA431427493 | DES | c.123C>G (p.Gly41=) | |
2 | g.219418585C>T | CA431427494 | DES | c.123C>T (p.Gly41=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418586T>A | CA350683108 | DES | c.124T>A (p.Ser42Thr) | dbSNP |
2 | g.219418586T>C | CA350683112 | DES | c.124T>C (p.Ser42Pro) | gnomAD v4 |
2 | g.219418586T>G | CA350683111 | DES | c.124T>G (p.Ser42Ala) | |
2 | g.219418586T= | CA1329209873 | DES | c.124T= (p.Ser42=) | |
2 | g.219418587C>A | CA65980741 | DES | c.125C>A (p.Ser42Tyr) | dbSNP gnomAD v4 COSMIC |
2 | g.219418587C= | CA1329209874 | DES | c.125C= (p.Ser42=) | |
2 | g.219418587C>G | CA350683123 | DES | c.125C>G (p.Ser42Cys) | |
2 | g.219418587C>T | CA350683119 | DES | c.125C>T (p.Ser42Phe) | gnomAD v4 |
2 | g.219418588T>A | CA431427500 | DES | c.126T>A (p.Ser42=) | |
2 | g.219418588T>C | CA431427501 | DES | c.126T>C (p.Ser42=) | dbSNP gnomAD v4 |
2 | g.219418588T>G | CA431427502 | DES | c.126T>G (p.Ser42=) | |
2 | g.219418588T= | CA1329209875 | DES | c.126T= (p.Ser42=) | |
2 | g.219418589A= | CA1329209876 | DES | c.127A= (p.Lys43=) | |
2 | g.219418589A>C | CA350683128 | DES | c.127A>C (p.Lys43Gln) | |
2 | g.219418589A>G | CA133823 | DES | c.127A>G (p.Lys43Glu) | ClinVar dbSNP |
2 | g.219418589A>T | CA350683130 | DES | c.127A>T (p.Lys43Ter) | |
2 | g.219418590dup | CA2843661236 | DES | c.128dup (p.Ser45LeufsTer?) | |
2 | g.219418590del | CA2663249055 | DES | c.128del (p.Lys43ArgfsTer7) | gnomAD v4 |
2 | g.219418590A>C | CA350683135 | DES | c.128A>C (p.Lys43Thr) | |
2 | g.219418590A>G | CA350683137 | DES | c.128A>G (p.Lys43Arg) | gnomAD v4 |
2 | g.219418590A>T | CA350683136 | DES | c.128A>T (p.Lys43Met) | |
2 | g.219418591G>A | CA431427504 | DES | c.129G>A (p.Lys43=) | |
2 | g.219418591G>C | CA350683138 | DES | c.129G>C (p.Lys43Asn) | |
2 | g.219418591G>T | CA350683142 | DES | c.129G>T (p.Lys43Asn) | gnomAD v4 |
2 | g.219418592G>A | CA16617477 | DES | c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.219418592G>C | CA350683162 | DES | c.130G>C (p.Gly44Arg) | |
2 | g.219418592G= | CA1329209877 | DES | c.130G= (p.Gly44=) | |
2 | g.219418592G>T | CA350683170 | DES | c.130G>T (p.Gly44Cys) | gnomAD v4 |
2 | g.219418593G>A | CA350683178 | DES | c.131G>A (p.Gly44Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418593G>C | CA350683184 | DES | c.131G>C (p.Gly44Ala) | |
2 | g.219418593G= | CA1329209878 | DES | c.131G= (p.Gly44=) | |
2 | g.219418593G>T | CA350683193 | DES | c.131G>T (p.Gly44Val) | ClinVar dbSNP gnomAD v4 |
2 | g.219418594C>A | CA2125031 | DES | c.132C>A (p.Gly44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418594C= | CA1329209879 | DES | c.132C= (p.Gly44=) | |
2 | g.219418594C>G | CA431427506 | DES | c.132C>G (p.Gly44=) | |
2 | g.219418594C>T | CA2125030 | DES | c.132C>T (p.Gly44=) | dbSNP ExAC gnomAD v2 |
2 | g.219418595T>A | CA350683210 | DES | c.133T>A (p.Ser45Thr) | |
2 | g.219418595T>C | CA350683201 | DES | c.133T>C (p.Ser45Pro) | |
2 | g.219418595T>G | CA350683203 | DES | c.133T>G (p.Ser45Ala) | |
2 | g.219418596C>A | CA350683216 | DES | c.134C>A (p.Ser45Tyr) | gnomAD v4 |
2 | g.219418596C= | CA1329209880 | DES | c.134C= (p.Ser45=) | |
2 | g.219418596C>G | CA350683219 | DES | c.134C>G (p.Ser45Cys) | |
2 | g.219418596C>T | CA350683243 | DES | c.134C>T (p.Ser45Phe) | dbSNP |
2 | g.219418597C>A | CA431427509 | DES | c.135C>A (p.Ser45=) | |
2 | g.219418597C= | CA1329209881 | DES | c.135C= (p.Ser45=) | |
2 | g.219418597C>G | CA431427510 | DES | c.135C>G (p.Ser45=) | gnomAD v4 |
2 | g.219418597C>T | CA431427512 | DES | c.135C>T (p.Ser45=) | dbSNP gnomAD v4 |
2 | g.219418598T>A | CA350683250 | DES | c.136T>A (p.Ser46Thr) | |
2 | g.219418598T>C | CA350683255 | DES | c.136T>C (p.Ser46Pro) | |
2 | g.219418598T>G | CA350683259 | DES | c.136T>G (p.Ser46Ala) | |
2 | g.219418599C>A | CA217053 | DES | c.137C>A (p.Ser46Tyr) | ClinVar dbSNP gnomAD v4 |
2 | g.219418599C= | CA1329209882 | DES | c.137C= (p.Ser46=) | |
2 | g.219418599C>G | CA350683275 | DES | c.137C>G (p.Ser46Cys) | dbSNP gnomAD v4 |
2 | g.219418599C>T | CA217055 | DES | c.137C>T (p.Ser46Phe) | ClinVar dbSNP |
2 | g.219418600C>A | CA431427515 | DES | c.138C>A (p.Ser46=) | ClinVar gnomAD v4 |
2 | g.219418600C= | CA1329209883 | DES | c.138C= (p.Ser46=) | |
2 | g.219418600C>G | CA431427517 | DES | c.138C>G (p.Ser46=) | dbSNP |
2 | g.219418600C>T | CA431427519 | DES | c.138C>T (p.Ser46=) | |
2 | g.219418601A= | CA1329209884 | DES | c.139A= (p.Ser47=) | |
2 | g.219418601A>C | CA350683288 | DES | c.139A>C (p.Ser47Arg) | |
2 | g.219418601A>G | CA65980788 | DES | c.139A>G (p.Ser47Gly) | dbSNP |
2 | g.219418601A>T | CA350683283 | DES | c.139A>T (p.Ser47Cys) | |
2 | g.219418602G>A | CA350683303 | DES | c.140G>A (p.Ser47Asn) | |
2 | g.219418602G>C | CA350683309 | DES | c.140G>C (p.Ser47Thr) | |
2 | g.219418602G>T | CA350683312 | DES | c.140G>T (p.Ser47Ile) | ClinVar dbSNP |
2 | g.219418603C>A | CA2125032 | DES | c.141C>A (p.Ser47Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418603C= | CA1329209885 | DES | c.141C= (p.Ser47=) | |
2 | g.219418603C>G | CA350683339 | DES | c.141C>G (p.Ser47Arg) | |
2 | g.219418603C>T | CA431427524 | DES | c.141C>T (p.Ser47=) | |
2 | g.219418604T>A | CA350683344 | DES | c.142T>A (p.Ser48Thr) | |
2 | g.219418604T>C | CA350683347 | DES | c.142T>C (p.Ser48Pro) | |
2 | g.219418604T>G | CA350683348 | DES | c.142T>G (p.Ser48Ala) | |
2 | g.219418604_219418608del | CA2663249089 | DES | c.142_146del (p.Ser48AspfsTer?) | gnomAD v4 |
2 | g.219418605C>A | CA350683352 | DES | c.143C>A (p.Ser48Ter) | gnomAD v4 |
2 | g.219418605C>G | CA350683353 | DES | c.143C>G (p.Ser48Trp) | |
2 | g.219418605C>T | CA350683357 | DES | c.143C>T (p.Ser48Leu) | gnomAD v4 |
2 | g.219418606G>A | CA431427528 | DES | c.144G>A (p.Ser48=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418606G>C | CA431427530 | DES | c.144G>C (p.Ser48=) | |
2 | g.219418606G= | CA1329209886 | DES | c.144G= (p.Ser48=) | |
2 | g.219418606G>T | CA431427531 | DES | c.144G>T (p.Ser48=) | gnomAD v4 |
2 | g.219418607G>A | CA350683367 | DES | c.145G>A (p.Val49Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418607G>C | CA350683360 | DES | c.145G>C (p.Val49Leu) | |
2 | g.219418607G= | CA1329209887 | DES | c.145G= (p.Val49=) | |
2 | g.219418607G>T | CA350683362 | DES | c.145G>T (p.Val49Leu) | |
2 | g.219418608T>A | CA350683373 | DES | c.146T>A (p.Val49Glu) | |
2 | g.219418608T>C | CA308287 | DES | c.146T>C (p.Val49Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418608T>G | CA350683393 | DES | c.146T>G (p.Val49Gly) | |
2 | g.219418608T= | CA1329209888 | DES | c.146T= (p.Val49=) | |
2 | g.219418609G>A | CA431427534 | DES | c.147G>A (p.Val49=) | |
2 | g.219418609G>C | CA431427537 | DES | c.147G>C (p.Val49=) | gnomAD v4 |
2 | g.219418609G>T | CA431427536 | DES | c.147G>T (p.Val49=) | |
2 | g.219418610A= | CA1329209889 | DES | c.148A= (p.Thr50=) | |
2 | g.219418610A>C | CA350683394 | DES | c.148A>C (p.Thr50Pro) | |
2 | g.219418610A>G | CA350683395 | DES | c.148A>G (p.Thr50Ala) | |
2 | g.219418610A>T | CA2125033 | DES | c.148A>T (p.Thr50Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418611C>A | CA350683396 | DES | c.149C>A (p.Thr50Lys) | gnomAD v4 |
2 | g.219418611C>G | CA350683397 | DES | c.149C>G (p.Thr50Arg) | |
2 | g.219418611C>T | CA350683398 | DES | c.149C>T (p.Thr50Met) | gnomAD v4 |
2 | g.219418612G>A | CA431427539 | DES | c.150G>A (p.Thr50=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418612G>C | CA431427540 | DES | c.150G>C (p.Thr50=) | |
2 | g.219418612G= | CA1329209890 | DES | c.150G= (p.Thr50=) | |
2 | g.219418612G>T | CA431427542 | DES | c.150G>T (p.Thr50=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418613T>A | CA350683400 | DES | c.151T>A (p.Ser51Thr) | |
2 | g.219418613T>C | CA350683402 | DES | c.151T>C (p.Ser51Pro) | |
2 | g.219418613T>G | CA350683403 | DES | c.151T>G (p.Ser51Ala) | |
2 | g.219418614C>A | CA350683415 | DES | c.152C>A (p.Ser51Tyr) | |
2 | g.219418614C>G | CA350683418 | DES | c.152C>G (p.Ser51Cys) | |
2 | g.219418614C>T | CA350683406 | DES | c.152C>T (p.Ser51Phe) | |
2 | g.219418615C>A | CA431427548 | DES | c.153C>A (p.Ser51=) | gnomAD v4 |
2 | g.219418615C>G | CA431427550 | DES | c.153C>G (p.Ser51=) | |
2 | g.219418615C>T | CA431427549 | DES | c.153C>T (p.Ser51=) | |
2 | g.219418616C>A | CA308290 | DES | c.154C>A (p.Arg52Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.219418616C= | CA1329209891 | DES | c.154C= (p.Arg52=) | |
2 | g.219418616C>G | CA350683421 | DES | c.154C>G (p.Arg52Gly) | |
2 | g.219418616C>T | CA350683424 | DES | c.154C>T (p.Arg52Cys) | gnomAD v3 gnomAD v4 |
2 | g.219418617G>A | CA350683426 | DES | c.155G>A (p.Arg52His) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219418617G>C | CA350683428 | DES | c.155G>C (p.Arg52Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418617G= | CA1329209892 | DES | c.155G= (p.Arg52=) | |
2 | g.219418617G>T | CA350683437 | DES | c.155G>T (p.Arg52Leu) | gnomAD v4 |
2 | g.219418618C>A | CA431427553 | DES | c.156C>A (p.Arg52=) | gnomAD v4 |
2 | g.219418618C>G | CA431427554 | DES | c.156C>G (p.Arg52=) | |
2 | g.219418618C>T | CA431427555 | DES | c.156C>T (p.Arg52=) | ClinVar gnomAD v4 |
2 | g.219418619G>A | CA350683452 | DES | c.157G>A (p.Val53Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418619G>C | CA350683447 | DES | c.157G>C (p.Val53Leu) | |
2 | g.219418619G= | CA1329209893 | DES | c.157G= (p.Val53=) | |
2 | g.219418619G>T | CA350683443 | DES | c.157G>T (p.Val53Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418620T>A | CA350683457 | DES | c.158T>A (p.Val53Glu) | |
2 | g.219418620T>C | CA350683459 | DES | c.158T>C (p.Val53Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418620T>G | CA350683472 | DES | c.158T>G (p.Val53Gly) | |
2 | g.219418620T= | CA1329209894 | DES | c.158T= (p.Val53=) | |
2 | g.219418621G>A | CA431427564 | DES | c.159G>A (p.Val53=) | gnomAD v4 |
2 | g.219418621G>C | CA431427565 | DES | c.159G>C (p.Val53=) | gnomAD v4 |
2 | g.219418621G= | CA1329209895 | DES | c.159G= (p.Val53=) | |
2 | g.219418621G>T | CA431427566 | DES | c.159G>T (p.Val53=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418622T>A | CA350683476 | DES | c.160T>A (p.Tyr54Asn) | |
2 | g.219418622T>C | CA350683483 | DES | c.160T>C (p.Tyr54His) | |
2 | g.219418622T>G | CA350683486 | DES | c.160T>G (p.Tyr54Asp) | |
2 | g.219418623A>C | CA350683492 | DES | c.161A>C (p.Tyr54Ser) | |
2 | g.219418623A>G | CA350683501 | DES | c.161A>G (p.Tyr54Cys) | |
2 | g.219418623A>T | CA350683495 | DES | c.161A>T (p.Tyr54Phe) | |
2 | g.219418624C>A | CA350683505 | DES | c.162C>A (p.Tyr54Ter) | dbSNP gnomAD v4 |
2 | g.219418624C= | CA1329209896 | DES | c.162C= (p.Tyr54=) | |
2 | g.219418624C>G | CA16616729 | DES | c.162C>G (p.Tyr54Ter) | gnomAD v4 |
2 | g.219418624C>T | CA431427569 | DES | c.162C>T (p.Tyr54=) | |
2 | g.219418625C>A | CA350683509 | DES | c.163C>A (p.Gln55Lys) | dbSNP gnomAD v4 |
2 | g.219418625C= | CA1329209897 | DES | c.163C= (p.Gln55=) | |
2 | g.219418625C>G | CA350683511 | DES | c.163C>G (p.Gln55Glu) | |
2 | g.219418625C>T | CA350683513 | DES | c.163C>T (p.Gln55Ter) | ClinVar gnomAD v4 |
2 | g.219418626A>C | CA350683515 | DES | c.164A>C (p.Gln55Pro) | |
2 | g.219418626A>G | CA350683520 | DES | c.164A>G (p.Gln55Arg) | |
2 | g.219418626A>T | CA350683524 | DES | c.164A>T (p.Gln55Leu) | ClinVar gnomAD v4 |
2 | g.219418627G>A | CA431427574 | DES | c.165G>A (p.Gln55=) | dbSNP |
2 | g.219418627G>C | CA350683526 | DES | c.165G>C (p.Gln55His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418627G= | CA1329209898 | DES | c.165G= (p.Gln55=) | |
2 | g.219418627G>T | CA350683529 | DES | c.165G>T (p.Gln55His) | gnomAD v4 |