Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627209_50627241del | CA2573158321 | ARSA | c.393_425del (p.Pro132_Gly142del) c.135_167del (p.Pro46_Gly56del) n.784_816del | ClinVar dbSNP |
22 | g.50627232_50627241del | CA2657593850 | ARSA | c.397_406del (p.Glu133SerfsTer12) c.139_148del (p.Glu47SerfsTer12) n.788_797del | gnomAD v4 |
22 | g.50627238C>A | CA515391461 | ARSA | c.393G>T (p.Gly131=) c.135G>T (p.Gly45=) n.784G>T | gnomAD v4 |
22 | g.50627238C>G | CA515391462 | ARSA | c.393G>C (p.Gly131=) c.135G>C (p.Gly45=) n.784G>C | |
22 | g.50627238C>T | CA515391464 | ARSA | c.393G>A (p.Gly131=) c.135G>A (p.Gly45=) n.784G>A | ClinVar dbSNP gnomAD v4 |
22 | g.50627239C>A | CA412180573 | ARSA | c.392G>T (p.Gly131Val) c.134G>T (p.Gly45Val) n.783G>T | |
22 | g.50627239C= | CA2410959504 | ARSA | c.392G= (p.Gly131=) c.134G= (p.Gly45=) n.783G= | |
22 | g.50627239C>G | CA412180575 | ARSA | c.392G>C (p.Gly131Ala) c.134G>C (p.Gly45Ala) n.783G>C | |
22 | g.50627239C>T | CA412180582 | ARSA | c.392G>A (p.Gly131Glu) c.134G>A (p.Gly45Glu) n.783G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627240C>A | CA412180591 | ARSA | c.391G>T (p.Gly131Trp) c.133G>T (p.Gly45Trp) n.782G>T | gnomAD v4 |
22 | g.50627240C>G | CA412180595 | ARSA | c.391G>C (p.Gly131Arg) c.133G>C (p.Gly45Arg) n.782G>C | |
22 | g.50627240C>T | CA412180598 | ARSA | c.391G>A (p.Gly131Arg) c.133G>A (p.Gly45Arg) n.782G>A | |
22 | g.50627241C>A | CA515391466 | ARSA | c.390G>T (p.Val130=) c.132G>T (p.Val44=) n.781G>T | gnomAD v4 |
22 | g.50627241C>G | CA515391467 | ARSA | c.390G>C (p.Val130=) c.132G>C (p.Val44=) n.781G>C | |
22 | g.50627241C>T | CA515391468 | ARSA | c.390G>A (p.Val130=) c.132G>A (p.Val44=) n.781G>A | ClinVar |
22 | g.50627242A>C | CA412180607 | ARSA | c.389T>G (p.Val130Gly) c.131T>G (p.Val44Gly) n.780T>G | dbSNP |
22 | g.50627242A>G | CA412180604 | ARSA | c.389T>C (p.Val130Ala) c.131T>C (p.Val44Ala) n.780T>C | |
22 | g.50627242A>T | CA412180603 | ARSA | c.389T>A (p.Val130Glu) c.131T>A (p.Val44Glu) n.780T>A | |
22 | g.50627243C>A | CA412180612 | ARSA | c.388G>T (p.Val130Leu) c.130G>T (p.Val44Leu) n.779G>T | dbSNP |
22 | g.50627243C= | CA2410959505 | ARSA | c.388G= (p.Val130=) c.130G= (p.Val44=) n.779G= | |
22 | g.50627243C>G | CA412180621 | ARSA | c.388G>C (p.Val130Leu) c.130G>C (p.Val44Leu) n.779G>C | |
22 | g.50627243C>T | CA412180625 | ARSA | c.388G>A (p.Val130Met) c.130G>A (p.Val44Met) n.779G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627244C>A | CA515391471 | ARSA | c.387G>T (p.Gly129=) c.129G>T (p.Gly43=) n.778G>T | gnomAD v4 |
22 | g.50627244C= | CA2410959506 | ARSA | c.387G= (p.Gly129=) c.129G= (p.Gly43=) n.778G= | |
22 | g.50627244C>G | CA10325042 | ARSA | c.387G>C (p.Gly129=) c.129G>C (p.Gly43=) n.778G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627244C>T | CA515391472 | ARSA | c.387G>A (p.Gly129=) c.129G>A (p.Gly43=) n.778G>A | gnomAD v4 |
22 | g.50627245C>A | CA412180636 | ARSA | c.386G>T (p.Gly129Val) c.128G>T (p.Gly43Val) n.777G>T | gnomAD v4 |
22 | g.50627245C>G | CA412180644 | ARSA | c.386G>C (p.Gly129Ala) c.128G>C (p.Gly43Ala) n.777G>C | |
22 | g.50627245C>T | CA412180652 | ARSA | c.386G>A (p.Gly129Glu) c.128G>A (p.Gly43Glu) n.777G>A | ClinVar |
22 | g.50627246C>A | CA412180654 | ARSA | c.385G>T (p.Gly129Trp) c.127G>T (p.Gly43Trp) n.776G>T | |
22 | g.50627246C= | CA2410959507 | ARSA | c.385G= (p.Gly129=) c.127G= (p.Gly43=) n.776G= | |
22 | g.50627246C>G | CA412180656 | ARSA | c.385G>C (p.Gly129Arg) c.127G>C (p.Gly43Arg) n.776G>C | |
22 | g.50627246C>T | CA10325043 | ARSA | c.385G>A (p.Gly129Arg) c.127G>A (p.Gly43Arg) n.776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627247A>C | CA515391476 | ARSA | c.384T>G (p.Leu128=) c.126T>G (p.Leu42=) n.775T>G | |
22 | g.50627247A>G | CA515391475 | ARSA | c.384T>C (p.Leu128=) c.126T>C (p.Leu42=) n.775T>C | |
22 | g.50627247A>T | CA515391474 | ARSA | c.384T>A (p.Leu128=) c.126T>A (p.Leu42=) n.775T>A | |
22 | g.50627247_50627257del | CA2657593856 | ARSA | c.374_384del (p.Lys125ArgfsTer5) c.116_126del (p.Lys39ArgfsTer5) n.765_775del | gnomAD v4 |
22 | g.50627248A= | CA2410959508 | ARSA | c.383T= (p.Leu128=) c.125T= (p.Leu42=) n.774T= | |
22 | g.50627248A>C | CA412180668 | ARSA | c.383T>G (p.Leu128Arg) c.125T>G (p.Leu42Arg) n.774T>G | dbSNP |
22 | g.50627248A>G | CA412180671 | ARSA | c.383T>C (p.Leu128Pro) c.125T>C (p.Leu42Pro) n.774T>C | |
22 | g.50627248A>T | CA412180685 | ARSA | c.383T>A (p.Leu128His) c.125T>A (p.Leu42His) n.774T>A | |
22 | g.50627249G>A | CA412180691 | ARSA | c.382C>T (p.Leu128Phe) c.124C>T (p.Leu42Phe) n.773C>T | |
22 | g.50627249G>C | CA412180697 | ARSA | c.382C>G (p.Leu128Val) c.124C>G (p.Leu42Val) n.773C>G | |
22 | g.50627249G>T | CA412180696 | ARSA | c.382C>A (p.Leu128Ile) c.124C>A (p.Leu42Ile) n.773C>A | |
22 | g.50627250G>A | CA515391480 | ARSA | c.381C>T (p.His127=) c.123C>T (p.His41=) n.772C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627250G>C | CA412180700 | ARSA | c.381C>G (p.His127Gln) c.123C>G (p.His41Gln) n.772C>G | |
22 | g.50627250G= | CA2410959509 | ARSA | c.381C= (p.His127=) c.123C= (p.His41=) n.772C= | |
22 | g.50627250G>T | CA412180701 | ARSA | c.381C>A (p.His127Gln) c.123C>A (p.His41Gln) n.772C>A | |
22 | g.50627251T>A | CA412180704 | ARSA | c.380A>T (p.His127Leu) c.122A>T (p.His41Leu) n.771A>T | |
22 | g.50627251T>C | CA412180706 | ARSA | c.380A>G (p.His127Arg) c.122A>G (p.His41Arg) n.771A>G | |
22 | g.50627251T>G | CA412180707 | ARSA | c.380A>C (p.His127Pro) c.122A>C (p.His41Pro) n.771A>C | |
22 | g.50627252G>A | CA412180708 | ARSA | c.379C>T (p.His127Tyr) c.121C>T (p.His41Tyr) n.770C>T | |
22 | g.50627252G>C | CA412180709 | ARSA | c.379C>G (p.His127Asp) c.121C>G (p.His41Asp) n.770C>G | |
22 | g.50627252G>T | CA412180712 | ARSA | c.379C>A (p.His127Asn) c.121C>A (p.His41Asn) n.770C>A | |
22 | g.50627253C>A | CA412180715 | ARSA | c.378G>T (p.Trp126Cys) c.120G>T (p.Trp40Cys) n.769G>T | |
22 | g.50627253C= | CA2410959510 | ARSA | c.378G= (p.Trp126=) c.120G= (p.Trp40=) n.769G= | |
22 | g.50627253C>G | CA412180718 | ARSA | c.378G>C (p.Trp126Cys) c.120G>C (p.Trp40Cys) n.769G>C | |
22 | g.50627253C>T | CA412180720 | ARSA | c.378G>A (p.Trp126Ter) c.120G>A (p.Trp40Ter) n.769G>A | ClinVar dbSNP gnomAD v4 |
22 | g.50627254C>A | CA412180729 | ARSA | c.377G>T (p.Trp126Leu) c.119G>T (p.Trp40Leu) n.768G>T | |
22 | g.50627254C>G | CA412180733 | ARSA | c.377G>C (p.Trp126Ser) c.119G>C (p.Trp40Ser) n.768G>C | |
22 | g.50627254C>T | CA412180722 | ARSA | c.377G>A (p.Trp126Ter) c.119G>A (p.Trp40Ter) n.768G>A | |
22 | g.50627255A= | CA2410959511 | ARSA | c.376T= (p.Trp126=) c.118T= (p.Trp40=) n.767T= | |
22 | g.50627255A>C | CA412180738 | ARSA | c.376T>G (p.Trp126Gly) c.118T>G (p.Trp40Gly) n.767T>G | dbSNP |
22 | g.50627255A>G | CA412180736 | ARSA | c.376T>C (p.Trp126Arg) c.118T>C (p.Trp40Arg) n.767T>C | |
22 | g.50627255A>T | CA412180737 | ARSA | c.376T>A (p.Trp126Arg) c.118T>A (p.Trp40Arg) n.767T>A | gnomAD v4 |
22 | g.50627256C>A | CA412180740 | ARSA | c.375G>T (p.Lys125Asn) c.117G>T (p.Lys39Asn) n.766G>T | |
22 | g.50627256C= | CA2410959513 | ARSA | c.375G= (p.Lys125=) c.117G= (p.Lys39=) n.766G= | |
22 | g.50627256C>G | CA412180743 | ARSA | c.375G>C (p.Lys125Asn) c.117G>C (p.Lys39Asn) n.766G>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627256C>T | CA515391485 | ARSA | c.375G>A (p.Lys125=) c.117G>A (p.Lys39=) n.766G>A | |
22 | g.50627256_50627262delinsCTTGCCG | CA2410959512 | ARSA | c.369_375delinsCGGCAAG (p.Ala123=) c.111_117delinsCGGCAAG (p.Ala37=) n.760_766delinsCGGCAAG | |
22 | g.50627257T>A | CA412180753 | ARSA | c.374A>T (p.Lys125Met) c.116A>T (p.Lys39Met) n.765A>T | |
22 | g.50627257T>C | CA412180756 | ARSA | c.374A>G (p.Lys125Arg) c.116A>G (p.Lys39Arg) n.765A>G | |
22 | g.50627257T>G | CA412180758 | ARSA | c.374A>C (p.Lys125Thr) c.116A>C (p.Lys39Thr) n.765A>C | ClinVar |
22 | g.50627257_50627262delinsCCCAAGGTT | CA233479 | ARSA | c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) c.111_116delinsAACCTTGGG (p.Gly38_Lys39delinsThrLeuGly) n.760_765delinsAACCTTGGG | ClinVar dbSNP |
22 | g.50627258T>A | CA412180763 | ARSA | c.373A>T (p.Lys125Ter) c.115A>T (p.Lys39Ter) n.764A>T | |
22 | g.50627258T>C | CA412180767 | ARSA | c.373A>G (p.Lys125Glu) c.115A>G (p.Lys39Glu) n.764A>G | |
22 | g.50627258T>G | CA412180770 | ARSA | c.373A>C (p.Lys125Gln) c.115A>C (p.Lys39Gln) n.764A>C | |
22 | g.50627259G>A | CA515391487 | ARSA | c.372C>T (p.Gly124=) c.114C>T (p.Gly38=) n.763C>T | |
22 | g.50627259G>C | CA515391488 | ARSA | c.372C>G (p.Gly124=) c.114C>G (p.Gly38=) n.763C>G | |
22 | g.50627259G>T | CA515391489 | ARSA | c.372C>A (p.Gly124=) c.114C>A (p.Gly38=) n.763C>A | gnomAD v4 |
22 | g.50627260C>A | CA412180780 | ARSA | c.371G>T (p.Gly124Val) c.113G>T (p.Gly38Val) n.762G>T | |
22 | g.50627260C= | CA2410959514 | ARSA | c.371G= (p.Gly124=) c.113G= (p.Gly38=) n.762G= | |
22 | g.50627260C>G | CA412180775 | ARSA | c.371G>C (p.Gly124Ala) c.113G>C (p.Gly38Ala) n.762G>C | |
22 | g.50627260C>T | CA412180773 | ARSA | c.371G>A (p.Gly124Asp) c.113G>A (p.Gly38Asp) n.762G>A | ClinVar dbSNP gnomAD v4 |
22 | g.50627261C>A | CA325531581 | ARSA | c.370G>T (p.Gly124Cys) c.112G>T (p.Gly38Cys) n.761G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627261C= | CA2410959515 | ARSA | c.370G= (p.Gly124=) c.112G= (p.Gly38=) n.761G= | |
22 | g.50627261C>G | CA412180784 | ARSA | c.370G>C (p.Gly124Arg) c.112G>C (p.Gly38Arg) n.761G>C | dbSNP gnomAD v4 |
22 | g.50627261C>T | CA220987 | ARSA | c.370G>A (p.Gly124Ser) c.112G>A (p.Gly38Ser) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627261_50627262delinsCG | CA2410959516 | ARSA | c.369_370delinsCG (p.Ala123=) c.111_112delinsCG (p.Ala37=) n.760_761delinsCG | |
22 | g.50627262G>A | CA10653701 | ARSA | c.369C>T (p.Ala123=) c.111C>T (p.Ala37=) n.760C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627262G>C | CA515391492 | ARSA | c.369C>G (p.Ala123=) c.111C>G (p.Ala37=) n.760C>G | |
22 | g.50627262G= | CA2410959517 | ARSA | c.369C= (p.Ala123=) c.111C= (p.Ala37=) n.760C= | |
22 | g.50627262G>T | CA515391494 | ARSA | c.369C>A (p.Ala123=) c.111C>A (p.Ala37=) n.760C>A | |
22 | g.50627263del | CA1026681316 | ARSA | c.369del (p.Gly124AlafsTer24) c.111del (p.Gly38AlafsTer24) n.760del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627263G>A | CA412180790 | ARSA | c.368C>T (p.Ala123Val) c.110C>T (p.Ala37Val) n.759C>T | gnomAD v4 |
22 | g.50627263G>C | CA412180800 | ARSA | c.368C>G (p.Ala123Gly) c.110C>G (p.Ala37Gly) n.759C>G | |
22 | g.50627263G>T | CA412180802 | ARSA | c.368C>A (p.Ala123Asp) c.110C>A (p.Ala37Asp) n.759C>A | |
22 | g.50627264C>A | CA412180805 | ARSA | c.367G>T (p.Ala123Ser) c.109G>T (p.Ala37Ser) n.758G>T | gnomAD v4 |
22 | g.50627264C= | CA2410959518 | ARSA | c.367G= (p.Ala123=) c.109G= (p.Ala37=) n.758G= | |
22 | g.50627264C>G | CA412180806 | ARSA | c.367G>C (p.Ala123Pro) c.109G>C (p.Ala37Pro) n.758G>C | gnomAD v4 |
22 | g.50627264C>T | CA412180809 | ARSA | c.367G>A (p.Ala123Thr) c.109G>A (p.Ala37Thr) n.758G>A | dbSNP |
22 | g.50627265C>A | CA412180810 | ARSA | c.366G>T (p.Met122Ile) c.108G>T (p.Met36Ile) n.757G>T | |
22 | g.50627265C>G | CA412180811 | ARSA | c.366G>C (p.Met122Ile) c.108G>C (p.Met36Ile) n.757G>C | |
22 | g.50627265C>T | CA412180812 | ARSA | c.366G>A (p.Met122Ile) c.108G>A (p.Met36Ile) n.757G>A | |
22 | g.50627266A>C | CA412180816 | ARSA | c.365T>G (p.Met122Arg) c.107T>G (p.Met36Arg) n.756T>G | |
22 | g.50627266A>G | CA412180819 | ARSA | c.365T>C (p.Met122Thr) c.107T>C (p.Met36Thr) n.756T>C | ClinVar dbSNP |
22 | g.50627266A>T | CA412180815 | ARSA | c.365T>A (p.Met122Lys) c.107T>A (p.Met36Lys) n.756T>A | |
22 | g.50627267T>A | CA412180821 | ARSA | c.364A>T (p.Met122Leu) c.106A>T (p.Met36Leu) n.755A>T | |
22 | g.50627267T>C | CA412180824 | ARSA | c.364A>G (p.Met122Val) c.106A>G (p.Met36Val) n.755A>G | |
22 | g.50627267T>G | CA412180833 | ARSA | c.364A>C (p.Met122Leu) c.106A>C (p.Met36Leu) n.755A>C | |
22 | g.50627268T>A | CA515391499 | ARSA | c.363A>T (p.Gly121=) c.105A>T (p.Gly35=) n.754A>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627268T>C | CA10325044 | ARSA | c.363A>G (p.Gly121=) c.105A>G (p.Gly35=) n.754A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627268T>G | CA515391500 | ARSA | c.363A>C (p.Gly121=) c.105A>C (p.Gly35=) n.754A>C | dbSNP |
22 | g.50627268T= | CA2410959519 | ARSA | c.363A= (p.Gly121=) c.105A= (p.Gly35=) n.754A= | |
22 | g.50627269C>A | CA412180843 | ARSA | c.362G>T (p.Gly121Val) c.104G>T (p.Gly35Val) n.753G>T | gnomAD v4 |
22 | g.50627269C>G | CA412180848 | ARSA | c.362G>C (p.Gly121Ala) c.104G>C (p.Gly35Ala) n.753G>C | |
22 | g.50627269C>T | CA412180850 | ARSA | c.362G>A (p.Gly121Glu) c.104G>A (p.Gly35Glu) n.753G>A | ClinVar |
22 | g.50627270C>A | CA412180855 | ARSA | c.361G>T (p.Gly121Ter) c.103G>T (p.Gly35Ter) n.752G>T | |
22 | g.50627270C= | CA2410959520 | ARSA | c.361G= (p.Gly121=) c.103G= (p.Gly35=) n.752G= | |
22 | g.50627270C>G | CA412180857 | ARSA | c.361G>C (p.Gly121Arg) c.103G>C (p.Gly35Arg) n.752G>C | gnomAD v4 |
22 | g.50627270C>T | CA219016 | ARSA | c.361G>A (p.Gly121Arg) c.103G>A (p.Gly35Arg) n.752G>A | ClinVar dbSNP |
22 | g.50627271T>A | CA515391503 | ARSA | c.360A>T (p.Thr120=) c.102A>T (p.Thr34=) n.751A>T | |
22 | g.50627271T>C | CA515391504 | ARSA | c.360A>G (p.Thr120=) c.102A>G (p.Thr34=) n.751A>G | gnomAD v4 |
22 | g.50627271T>G | CA515391505 | ARSA | c.360A>C (p.Thr120=) c.102A>C (p.Thr34=) n.751A>C | |
22 | g.50627272G>A | CA412180860 | ARSA | c.359C>T (p.Thr120Ile) c.101C>T (p.Thr34Ile) n.750C>T | gnomAD v4 |
22 | g.50627272G>C | CA412180868 | ARSA | c.359C>G (p.Thr120Arg) c.101C>G (p.Thr34Arg) n.750C>G | |
22 | g.50627272G>T | CA412180870 | ARSA | c.359C>A (p.Thr120Lys) c.101C>A (p.Thr34Lys) n.750C>A | |
22 | g.50627273T>A | CA412180878 | ARSA | c.358A>T (p.Thr120Ser) c.100A>T (p.Thr34Ser) n.749A>T | |
22 | g.50627273T>C | CA412180880 | ARSA | c.358A>G (p.Thr120Ala) c.100A>G (p.Thr34Ala) n.749A>G | |
22 | g.50627273T>G | CA412180875 | ARSA | c.358A>C (p.Thr120Pro) c.100A>C (p.Thr34Pro) n.749A>C | gnomAD v4 |
22 | g.50627274G>A | CA515391507 | ARSA | c.357C>T (p.Leu119=) c.99C>T (p.Leu33=) n.748C>T | |
22 | g.50627274G>C | CA10325045 | ARSA | c.357C>G (p.Leu119=) c.99C>G (p.Leu33=) n.748C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627274G= | CA2410959521 | ARSA | c.357C= (p.Leu119=) c.99C= (p.Leu33=) n.748C= | |
22 | g.50627274G>T | CA515391508 | ARSA | c.357C>A (p.Leu119=) c.99C>A (p.Leu33=) n.748C>A | |
22 | g.50627275A>C | CA412180889 | ARSA | c.356T>G (p.Leu119Arg) c.98T>G (p.Leu33Arg) n.747T>G | |
22 | g.50627275A>G | CA412180893 | ARSA | c.356T>C (p.Leu119Pro) c.98T>C (p.Leu33Pro) n.747T>C | |
22 | g.50627275A>T | CA412180896 | ARSA | c.356T>A (p.Leu119His) c.98T>A (p.Leu33His) n.747T>A | |
22 | g.50627275_50627284delinsAGGTAGCCTC | CA2410959522 | ARSA | c.347_356delinsGAGGCTACCT (p.Arg116=) c.89_98delinsGAGGCTACCT (p.Arg30=) n.738_747delinsGAGGCTACCT | |
22 | g.50627276G>A | CA412180900 | ARSA | c.355C>T (p.Leu119Phe) c.97C>T (p.Leu33Phe) n.746C>T | |
22 | g.50627276G>C | CA412180909 | ARSA | c.355C>G (p.Leu119Val) c.97C>G (p.Leu33Val) n.746C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627276G= | CA2410959523 | ARSA | c.355C= (p.Leu119=) c.97C= (p.Leu33=) n.746C= | |
22 | g.50627276G>T | CA412180911 | ARSA | c.355C>A (p.Leu119Ile) c.97C>A (p.Leu33Ile) n.746C>A | |
22 | g.50627277del | CA2657593857 | ARSA | c.355del (p.Leu119SerfsTer29) c.97del (p.Leu33SerfsTer29) n.746del | gnomAD v4 |
22 | g.50627278_50627286del | CA754070388 | ARSA | c.347_355del (p.Arg116_Tyr118del) c.89_97del (p.Arg30_Tyr32del) n.738_746del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627277G>A | CA515391510 | ARSA | c.354C>T (p.Tyr118=) c.96C>T (p.Tyr32=) n.745C>T | gnomAD v4 |
22 | g.50627277G>C | CA412180913 | ARSA | c.354C>G (p.Tyr118Ter) c.96C>G (p.Tyr32Ter) n.745C>G | |
22 | g.50627277G>T | CA412180914 | ARSA | c.354C>A (p.Tyr118Ter) c.96C>A (p.Tyr32Ter) n.745C>A | |
22 | g.50627278T>A | CA412180916 | ARSA | c.353A>T (p.Tyr118Phe) c.95A>T (p.Tyr32Phe) n.744A>T | |
22 | g.50627278T>C | CA412180922 | ARSA | c.353A>G (p.Tyr118Cys) c.95A>G (p.Tyr32Cys) n.744A>G | |
22 | g.50627278T>G | CA412180926 | ARSA | c.353A>C (p.Tyr118Ser) c.95A>C (p.Tyr32Ser) n.744A>C | |
22 | g.50627279A= | CA2410959524 | ARSA | c.352T= (p.Tyr118=) c.94T= (p.Tyr32=) n.743T= | |
22 | g.50627279A>C | CA412180930 | ARSA | c.352T>G (p.Tyr118Asp) c.94T>G (p.Tyr32Asp) n.743T>G | |
22 | g.50627279A>G | CA412180933 | ARSA | c.352T>C (p.Tyr118His) c.94T>C (p.Tyr32His) n.743T>C | dbSNP |
22 | g.50627279A>T | CA412180938 | ARSA | c.352T>A (p.Tyr118Asn) c.94T>A (p.Tyr32Asn) n.743T>A | |
22 | g.50627280G>A | CA515391512 | ARSA | c.351C>T (p.Gly117=) c.93C>T (p.Gly31=) n.742C>T | |
22 | g.50627280G>C | CA515391513 | ARSA | c.351C>G (p.Gly117=) c.93C>G (p.Gly31=) n.742C>G | |
22 | g.50627280G>T | CA515391514 | ARSA | c.351C>A (p.Gly117=) c.93C>A (p.Gly31=) n.742C>A | gnomAD v4 |
22 | g.50627281C>A | CA412180944 | ARSA | c.350G>T (p.Gly117Val) c.92G>T (p.Gly31Val) n.741G>T | gnomAD v4 |
22 | g.50627281C= | CA2410959525 | ARSA | c.350G= (p.Gly117=) c.92G= (p.Gly31=) n.741G= | |
22 | g.50627281C>G | CA412180945 | ARSA | c.350G>C (p.Gly117Ala) c.92G>C (p.Gly31Ala) n.741G>C | |
22 | g.50627281C>T | CA412180941 | ARSA | c.350G>A (p.Gly117Asp) c.92G>A (p.Gly31Asp) n.741G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627281_50627282dup | CA2739268050 | ARSA | c.349_350dup (p.Tyr118AlafsTer?) c.91_92dup (p.Tyr32AlafsTer?) n.740_741dup | ClinVar |
22 | g.50627282C>A | CA412180946 | ARSA | c.349G>T (p.Gly117Cys) c.91G>T (p.Gly31Cys) n.740G>T | |
22 | g.50627282C>G | CA412180947 | ARSA | c.349G>C (p.Gly117Arg) c.91G>C (p.Gly31Arg) n.740G>C | ClinVar gnomAD v4 |
22 | g.50627282C>T | CA412180950 | ARSA | c.349G>A (p.Gly117Ser) c.91G>A (p.Gly31Ser) n.740G>A | ClinVar dbSNP |
22 | g.50627283T>A | CA515391517 | ARSA | c.348A>T (p.Arg116=) c.90A>T (p.Arg30=) n.739A>T | |
22 | g.50627283T>C | CA515391515 | ARSA | c.348A>G (p.Arg116=) c.90A>G (p.Arg30=) n.739A>G | |
22 | g.50627283T>G | CA515391516 | ARSA | c.348A>C (p.Arg116=) c.90A>C (p.Arg30=) n.739A>C | |
22 | g.50627284C>A | CA412180953 | ARSA | c.347G>T (p.Arg116Leu) c.89G>T (p.Arg30Leu) n.738G>T | |
22 | g.50627284C= | CA2410959526 | ARSA | c.347G= (p.Arg116=) c.89G= (p.Arg30=) n.738G= | |
22 | g.50627284C>G | CA412180958 | ARSA | c.347G>C (p.Arg116Pro) c.89G>C (p.Arg30Pro) n.738G>C | gnomAD v4 |
22 | g.50627284C>T | CA10325046 | ARSA | c.347G>A (p.Arg116Gln) c.89G>A (p.Arg30Gln) n.738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627285G>A | CA10603751 | ARSA | c.346C>T (p.Arg116Ter) c.88C>T (p.Arg30Ter) n.737C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627285G>C | CA10325047 | ARSA | c.346C>G (p.Arg116Gly) c.88C>G (p.Arg30Gly) n.737C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627285G= | CA2410959527 | ARSA | c.346C= (p.Arg116=) c.88C= (p.Arg30=) n.737C= | |
22 | g.50627285G>T | CA515391521 | ARSA | c.346C>A (p.Arg116=) c.88C>A (p.Arg30=) n.737C>A | gnomAD v4 |
22 | g.50627286G>A | CA515391522 | ARSA | c.345C>T (p.Ala115=) c.87C>T (p.Ala29=) n.736C>T | |
22 | g.50627286G>C | CA325531584 | ARSA | c.345C>G (p.Ala115=) c.87C>G (p.Ala29=) n.736C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627286G= | CA2410959528 | ARSA | c.345C= (p.Ala115=) c.87C= (p.Ala29=) n.736C= | |
22 | g.50627286G>T | CA515391523 | ARSA | c.345C>A (p.Ala115=) c.87C>A (p.Ala29=) n.736C>A | gnomAD v4 |
22 | g.50627287G>A | CA412180975 | ARSA | c.344C>T (p.Ala115Val) c.86C>T (p.Ala29Val) n.735C>T | gnomAD v4 |
22 | g.50627287G>C | CA412180979 | ARSA | c.344C>G (p.Ala115Gly) c.86C>G (p.Ala29Gly) n.735C>G | dbSNP |
22 | g.50627287G= | CA2410959529 | ARSA | c.344C= (p.Ala115=) c.86C= (p.Ala29=) n.735C= | |
22 | g.50627287G>T | CA412180997 | ARSA | c.344C>A (p.Ala115Asp) c.86C>A (p.Ala29Asp) n.735C>A | |
22 | g.50627288C>A | CA412181006 | ARSA | c.343G>T (p.Ala115Ser) c.85G>T (p.Ala29Ser) n.734G>T | |
22 | g.50627288C= | CA2410959530 | ARSA | c.343G= (p.Ala115=) c.85G= (p.Ala29=) n.734G= | |
22 | g.50627288C>G | CA412181009 | ARSA | c.343G>C (p.Ala115Pro) c.85G>C (p.Ala29Pro) n.734G>C | gnomAD v4 |
22 | g.50627288C>T | CA412181012 | ARSA | c.343G>A (p.Ala115Thr) c.85G>A (p.Ala29Thr) n.734G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627289A= | CA2410959531 | ARSA | c.342T= (p.Ala114=) c.84T= (p.Ala28=) n.733T= | |
22 | g.50627289A>C | CA515391527 | ARSA | c.342T>G (p.Ala114=) c.84T>G (p.Ala28=) n.733T>G | |
22 | g.50627289A>G | CA10325048 | ARSA | c.342T>C (p.Ala114=) c.84T>C (p.Ala28=) n.733T>C | dbSNP ExAC gnomAD v2 |
22 | g.50627289A>T | CA515391529 | ARSA | c.342T>A (p.Ala114=) c.84T>A (p.Ala28=) n.733T>A | |
22 | g.50627290G>A | CA412181018 | ARSA | c.341C>T (p.Ala114Val) c.83C>T (p.Ala28Val) n.732C>T | gnomAD v4 |
22 | g.50627290G>C | CA412181020 | ARSA | c.341C>G (p.Ala114Gly) c.83C>G (p.Ala28Gly) n.732C>G | |
22 | g.50627290G>T | CA412181019 | ARSA | c.341C>A (p.Ala114Asp) c.83C>A (p.Ala28Asp) n.732C>A | gnomAD v4 |
22 | g.50627291C>A | CA412181023 | ARSA | c.340G>T (p.Ala114Ser) c.82G>T (p.Ala28Ser) n.731G>T | |
22 | g.50627291C>G | CA412181027 | ARSA | c.340G>C (p.Ala114Pro) c.82G>C (p.Ala28Pro) n.731G>C | |
22 | g.50627291C>T | CA412181037 | ARSA | c.340G>A (p.Ala114Thr) c.82G>A (p.Ala28Thr) n.731G>A | |
22 | g.50627292C>A | CA10325049 | ARSA | c.339G>T (p.Leu113=) c.81G>T (p.Leu27=) n.730G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627292C= | CA2410959532 | ARSA | c.339G= (p.Leu113=) c.81G= (p.Leu27=) n.730G= | |
22 | g.50627292C>G | CA515391531 | ARSA | c.339G>C (p.Leu113=) c.81G>C (p.Leu27=) n.730G>C | |
22 | g.50627292C>T | CA515391532 | ARSA | c.339G>A (p.Leu113=) c.81G>A (p.Leu27=) n.730G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627293A= | CA2410959533 | ARSA | c.338T= (p.Leu113=) c.80T= (p.Leu27=) n.729T= | |
22 | g.50627293A>C | CA412181043 | ARSA | c.338T>G (p.Leu113Arg) c.80T>G (p.Leu27Arg) n.729T>G | |
22 | g.50627293A>G | CA10325050 | ARSA | c.338T>C (p.Leu113Pro) c.80T>C (p.Leu27Pro) n.729T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627293A>T | CA412181049 | ARSA | c.338T>A (p.Leu113Gln) c.80T>A (p.Leu27Gln) n.729T>A | |
22 | g.50627294G>A | CA515391534 | ARSA | c.337C>T (p.Leu113=) c.79C>T (p.Leu27=) n.728C>T | ClinVar gnomAD v4 COSMIC |
22 | g.50627294G>C | CA412181074 | ARSA | c.337C>G (p.Leu113Val) c.79C>G (p.Leu27Val) n.728C>G | |
22 | g.50627294G>T | CA412181078 | ARSA | c.337C>A (p.Leu113Met) c.79C>A (p.Leu27Met) n.728C>A | |
22 | g.50627295G>A | CA515391535 | ARSA | c.336C>T (p.Val112=) c.78C>T (p.Val26=) n.727C>T | ClinVar dbSNP |
22 | g.50627295G>C | CA515391536 | ARSA | c.336C>G (p.Val112=) c.78C>G (p.Val26=) n.727C>G | |
22 | g.50627295G>T | CA515391537 | ARSA | c.336C>A (p.Val112=) c.78C>A (p.Val26=) n.727C>A | |
22 | g.50627296A= | CA2410959534 | ARSA | c.335T= (p.Val112=) c.77T= (p.Val26=) n.726T= | |
22 | g.50627296A>C | CA412181082 | ARSA | c.335T>G (p.Val112Gly) c.77T>G (p.Val26Gly) n.726T>G | |
22 | g.50627296A>G | CA412181085 | ARSA | c.335T>C (p.Val112Ala) c.77T>C (p.Val26Ala) n.726T>C | |
22 | g.50627296A>T | CA412181089 | ARSA | c.335T>A (p.Val112Asp) c.77T>A (p.Val26Asp) n.726T>A | ClinVar dbSNP |
22 | g.50627298_50627364del | CA2697552823 | ARSA | c.269_335del (p.Tyr90SerfsTer?) c.11_77del (p.Tyr4SerfsTer?) n.660_726del | ClinVar |
22 | g.50627297C>A | CA10325051 | ARSA | c.334G>T (p.Val112Phe) c.76G>T (p.Val26Phe) n.725G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627297C= | CA2410959535 | ARSA | c.334G= (p.Val112=) c.76G= (p.Val26=) n.725G= | |
22 | g.50627297C>G | CA412181101 | ARSA | c.334G>C (p.Val112Leu) c.76G>C (p.Val26Leu) n.725G>C | |
22 | g.50627297C>T | CA412181096 | ARSA | c.334G>A (p.Val112Ile) c.76G>A (p.Val26Ile) n.725G>A | |
22 | g.50627298T>A | CA412181104 | ARSA | c.333A>T (p.Glu111Asp) c.75A>T (p.Glu25Asp) n.724A>T | |
22 | g.50627298T>C | CA515391539 | ARSA | c.333A>G (p.Glu111=) c.75A>G (p.Glu25=) n.724A>G | |
22 | g.50627298T>G | CA412181108 | ARSA | c.333A>C (p.Glu111Asp) c.75A>C (p.Glu25Asp) n.724A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627298T= | CA2410959536 | ARSA | c.333A= (p.Glu111=) c.75A= (p.Glu25=) n.724A= | |
22 | g.50627299T>A | CA412181113 | ARSA | c.332A>T (p.Glu111Val) c.74A>T (p.Glu25Val) n.723A>T | gnomAD v4 |
22 | g.50627299T>C | CA412181115 | ARSA | c.332A>G (p.Glu111Gly) c.74A>G (p.Glu25Gly) n.723A>G | |
22 | g.50627299T>G | CA412181120 | ARSA | c.332A>C (p.Glu111Ala) c.74A>C (p.Glu25Ala) n.723A>C | |
22 | g.50627300C>A | CA412181127 | ARSA | c.331G>T (p.Glu111Ter) c.73G>T (p.Glu25Ter) n.722G>T | gnomAD v4 |
22 | g.50627300C= | CA2410959537 | ARSA | c.331G= (p.Glu111=) c.73G= (p.Glu25=) n.722G= | |
22 | g.50627300C>G | CA412181129 | ARSA | c.331G>C (p.Glu111Gln) c.73G>C (p.Glu25Gln) n.722G>C | |
22 | g.50627300C>T | CA10325052 | ARSA | c.331G>A (p.Glu111Lys) c.73G>A (p.Glu25Lys) n.722G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627301G>A | CA325531588 | ARSA | c.330C>T (p.Ala110=) c.72C>T (p.Ala24=) n.721C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627301G>C | CA515391543 | ARSA | c.330C>G (p.Ala110=) c.72C>G (p.Ala24=) n.721C>G | |
22 | g.50627301G= | CA2410959538 | ARSA | c.330C= (p.Ala110=) c.72C= (p.Ala24=) n.721C= | |
22 | g.50627301G>T | CA515391544 | ARSA | c.330C>A (p.Ala110=) c.72C>A (p.Ala24=) n.721C>A | |
22 | g.50627302G>A | CA412181138 | ARSA | c.329C>T (p.Ala110Val) c.71C>T (p.Ala24Val) n.720C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627302G>C | CA412181141 | ARSA | c.329C>G (p.Ala110Gly) c.71C>G (p.Ala24Gly) n.720C>G | |
22 | g.50627302G= | CA2410959539 | ARSA | c.329C= (p.Ala110=) c.71C= (p.Ala24=) n.720C= | |
22 | g.50627302G>T | CA412181147 | ARSA | c.329C>A (p.Ala110Asp) c.71C>A (p.Ala24Asp) n.720C>A | dbSNP |
22 | g.50627303C>A | CA412181156 | ARSA | c.328G>T (p.Ala110Ser) c.70G>T (p.Ala24Ser) n.719G>T | gnomAD v4 |
22 | g.50627303C= | CA2410959540 | ARSA | c.328G= (p.Ala110=) c.70G= (p.Ala24=) n.719G= | |
22 | g.50627303C>G | CA412181161 | ARSA | c.328G>C (p.Ala110Pro) c.70G>C (p.Ala24Pro) n.719G>C | |
22 | g.50627303C>T | CA412181165 | ARSA | c.328G>A (p.Ala110Thr) c.70G>A (p.Ala24Thr) n.719G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627304C>A | CA515391548 | ARSA | c.327G>T (p.Val109=) c.69G>T (p.Val23=) n.718G>T | gnomAD v4 |
22 | g.50627304C= | CA2410959541 | ARSA | c.327G= (p.Val109=) c.69G= (p.Val23=) n.718G= | |
22 | g.50627304C>G | CA10325053 | ARSA | c.327G>C (p.Val109=) c.69G>C (p.Val23=) n.718G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627304C>T | CA325531589 | ARSA | c.327G>A (p.Val109=) c.69G>A (p.Val23=) n.718G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627305A>C | CA412181176 | ARSA | c.326T>G (p.Val109Gly) c.68T>G (p.Val23Gly) n.717T>G | |
22 | g.50627305A>G | CA412181180 | ARSA | c.326T>C (p.Val109Ala) c.68T>C (p.Val23Ala) n.717T>C | ClinVar |
22 | g.50627305A>T | CA412181185 | ARSA | c.326T>A (p.Val109Glu) c.68T>A (p.Val23Glu) n.717T>A | |
22 | g.50627306C>A | CA412181193 | ARSA | c.325G>T (p.Val109Leu) c.67G>T (p.Val23Leu) n.716G>T | |
22 | g.50627306C= | CA2410959542 | ARSA | c.325G= (p.Val109=) c.67G= (p.Val23=) n.716G= | |
22 | g.50627306C>G | CA412181194 | ARSA | c.325G>C (p.Val109Leu) c.67G>C (p.Val23Leu) n.716G>C | |
22 | g.50627306C>T | CA10325054 | ARSA | c.325G>A (p.Val109Met) c.67G>A (p.Val23Met) n.716G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627307G>A | CA10325055 | ARSA | c.324C>T (p.Thr108=) c.66C>T (p.Thr22=) n.715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627307G>C | CA515391549 | ARSA | c.324C>G (p.Thr108=) c.66C>G (p.Thr22=) n.715C>G | gnomAD v4 |
22 | g.50627307G= | CA2410959543 | ARSA | c.324C= (p.Thr108=) c.66C= (p.Thr22=) n.715C= | |
22 | g.50627307G>T | CA515391550 | ARSA | c.324C>A (p.Thr108=) c.66C>A (p.Thr22=) n.715C>A | gnomAD v4 |
22 | g.50627308G>A | CA412181209 | ARSA | c.323C>T (p.Thr108Ile) c.65C>T (p.Thr22Ile) n.714C>T | ClinVar |
22 | g.50627308G>C | CA412181218 | ARSA | c.323C>G (p.Thr108Ser) c.65C>G (p.Thr22Ser) n.714C>G | |
22 | g.50627308G>T | CA412181222 | ARSA | c.323C>A (p.Thr108Asn) c.65C>A (p.Thr22Asn) n.714C>A | |
22 | g.50627309T>A | CA412181228 | ARSA | c.322A>T (p.Thr108Ser) c.64A>T (p.Thr22Ser) n.713A>T | |
22 | g.50627309T>C | CA412181231 | ARSA | c.322A>G (p.Thr108Ala) c.64A>G (p.Thr22Ala) n.713A>G | |
22 | g.50627309T>G | CA412181240 | ARSA | c.322A>C (p.Thr108Pro) c.64A>C (p.Thr22Pro) n.713A>C | |
22 | g.50627310C>A | CA515391551 | ARSA | c.321G>T (p.Val107=) c.63G>T (p.Val21=) n.712G>T | gnomAD v4 |
22 | g.50627310C>G | CA515391553 | ARSA | c.321G>C (p.Val107=) c.63G>C (p.Val21=) n.712G>C | |
22 | g.50627310C>T | CA515391552 | ARSA | c.321G>A (p.Val107=) c.63G>A (p.Val21=) n.712G>A | |
22 | g.50627311A>C | CA412181244 | ARSA | c.320T>G (p.Val107Gly) c.62T>G (p.Val21Gly) n.711T>G | |
22 | g.50627311A>G | CA412181260 | ARSA | c.320T>C (p.Val107Ala) c.62T>C (p.Val21Ala) n.711T>C | |
22 | g.50627311A>T | CA412181249 | ARSA | c.320T>A (p.Val107Glu) c.62T>A (p.Val21Glu) n.711T>A | |
22 | g.50627312C>A | CA412181265 | ARSA | c.319G>T (p.Val107Leu) c.61G>T (p.Val21Leu) n.710G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627312C= | CA2410959544 | ARSA | c.319G= (p.Val107=) c.61G= (p.Val21=) n.710G= | |
22 | g.50627312C>G | CA412181267 | ARSA | c.319G>C (p.Val107Leu) c.61G>C (p.Val21Leu) n.710G>C | |
22 | g.50627312C>T | CA412181266 | ARSA | c.319G>A (p.Val107Met) c.61G>A (p.Val21Met) n.710G>A | gnomAD v4 |
22 | g.50627313C>A | CA412181271 | ARSA | c.318G>T (p.Glu106Asp) c.60G>T (p.Glu20Asp) n.709G>T | gnomAD v4 |
22 | g.50627313C= | CA2410959545 | ARSA | c.318G= (p.Glu106=) c.60G= (p.Glu20=) n.709G= | |
22 | g.50627313C>G | CA412181277 | ARSA | c.318G>C (p.Glu106Asp) c.60G>C (p.Glu20Asp) n.709G>C | |
22 | g.50627313C>T | CA10325056 | ARSA | c.318G>A (p.Glu106=) c.60G>A (p.Glu20=) n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627314T>A | CA412181287 | ARSA | c.317A>T (p.Glu106Val) c.59A>T (p.Glu20Val) n.708A>T | |
22 | g.50627314T>C | CA412181289 | ARSA | c.317A>G (p.Glu106Gly) c.59A>G (p.Glu20Gly) n.708A>G | gnomAD v4 |
22 | g.50627314T>G | CA412181291 | ARSA | c.317A>C (p.Glu106Ala) c.59A>C (p.Glu20Ala) n.708A>C | |
22 | g.50627315C>A | CA412181292 | ARSA | c.316G>T (p.Glu106Ter) c.58G>T (p.Glu20Ter) n.707G>T | gnomAD v4 |
22 | g.50627315C>G | CA412181293 | ARSA | c.316G>C (p.Glu106Gln) c.58G>C (p.Glu20Gln) n.707G>C | |
22 | g.50627315C>T | CA412181297 | ARSA | c.316G>A (p.Glu106Lys) c.58G>A (p.Glu20Lys) n.707G>A | gnomAD v4 |
22 | g.50627316C>A | CA412181301 | ARSA | c.315G>T (p.Glu105Asp) c.57G>T (p.Glu19Asp) n.706G>T | |
22 | g.50627316C>G | CA412181303 | ARSA | c.315G>C (p.Glu105Asp) c.57G>C (p.Glu19Asp) n.706G>C | |
22 | g.50627316C>T | CA515391554 | ARSA | c.315G>A (p.Glu105=) c.57G>A (p.Glu19=) n.706G>A | |
22 | g.50627317T>A | CA412181316 | ARSA | c.314A>T (p.Glu105Val) c.56A>T (p.Glu19Val) n.705A>T | |
22 | g.50627317T>C | CA412181315 | ARSA | c.314A>G (p.Glu105Gly) c.56A>G (p.Glu19Gly) n.705A>G | gnomAD v4 |
22 | g.50627317T>G | CA412181311 | ARSA | c.314A>C (p.Glu105Ala) c.56A>C (p.Glu19Ala) n.705A>C | |
22 | g.50627318C>A | CA412181317 | ARSA | c.313G>T (p.Glu105Ter) c.55G>T (p.Glu19Ter) n.704G>T | gnomAD v4 |
22 | g.50627318C>G | CA412181318 | ARSA | c.313G>C (p.Glu105Gln) c.55G>C (p.Glu19Gln) n.704G>C | |
22 | g.50627318C>T | CA412181320 | ARSA | c.313G>A (p.Glu105Lys) c.55G>A (p.Glu19Lys) n.704G>A | |
22 | g.50627319C>A | CA515391555 | ARSA | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) n.703G>T | |
22 | g.50627319C>G | CA515391556 | ARSA | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) n.703G>C | |
22 | g.50627319C>T | CA515391557 | ARSA | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) n.703G>A | ClinVar |
22 | g.50627320del | CA2580099998 | ARSA | c.311del (p.Leu104ArgfsTer4) c.53del (p.Leu18ArgfsTer4) n.702del | ClinVar |
22 | g.50627320A= | CA2410959546 | ARSA | c.311T= (p.Leu104=) c.53T= (p.Leu18=) n.702T= | |
22 | g.50627320A>C | CA412181321 | ARSA | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) n.702T>G | gnomAD v4 |
22 | g.50627320A>G | CA325531593 | ARSA | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) n.702T>C | dbSNP gnomAD v4 |
22 | g.50627320A>T | CA412181340 | ARSA | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) n.702T>A | gnomAD v4 |
22 | g.50627321G>A | CA515391558 | ARSA | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) n.701C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627321G>C | CA412181348 | ARSA | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) n.701C>G | |
22 | g.50627321G>T | CA412181351 | ARSA | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) n.701C>A | gnomAD v4 |
22 | g.50627324del | CA2657593945 | ARSA | c.310del (p.Leu104TrpfsTer4) c.52del (p.Leu18TrpfsTer4) n.701del | gnomAD v4 |
22 | g.50627322G>A | CA10325057 | ARSA | c.309C>T (p.Pro103=) c.51C>T (p.Pro17=) n.700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627322G>C | CA515391559 | ARSA | c.309C>G (p.Pro103=) c.51C>G (p.Pro17=) n.700C>G | |
22 | g.50627322G= | CA2410959547 | ARSA | c.309C= (p.Pro103=) c.51C= (p.Pro17=) n.700C= | |
22 | g.50627322G>T | CA515391560 | ARSA | c.309C>A (p.Pro103=) c.51C>A (p.Pro17=) n.700C>A | |
22 | g.50627323G>A | CA412181367 | ARSA | c.308C>T (p.Pro103Leu) c.50C>T (p.Pro17Leu) n.699C>T | gnomAD v4 |
22 | g.50627323G>C | CA412181375 | ARSA | c.308C>G (p.Pro103Arg) c.50C>G (p.Pro17Arg) n.699C>G | ClinVar |
22 | g.50627323G>T | CA412181378 | ARSA | c.308C>A (p.Pro103His) c.50C>A (p.Pro17His) n.699C>A | gnomAD v4 |
22 | g.50627324G>A | CA412181390 | ARSA | c.307C>T (p.Pro103Ser) c.49C>T (p.Pro17Ser) n.698C>T | gnomAD v4 |
22 | g.50627324G>C | CA412181386 | ARSA | c.307C>G (p.Pro103Ala) c.49C>G (p.Pro17Ala) n.698C>G | |
22 | g.50627324G>T | CA412181383 | ARSA | c.307C>A (p.Pro103Thr) c.49C>A (p.Pro17Thr) n.698C>A | gnomAD v4 |
22 | g.50627325C>A | CA515391561 | ARSA | c.306G>T (p.Leu102=) c.48G>T (p.Leu16=) n.697G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627325C= | CA2410959548 | ARSA | c.306G= (p.Leu102=) c.48G= (p.Leu16=) n.697G= | |
22 | g.50627325C>G | CA515391562 | ARSA | c.306G>C (p.Leu102=) c.48G>C (p.Leu16=) n.697G>C | |
22 | g.50627325C>T | CA10325058 | ARSA | c.306G>A (p.Leu102=) c.48G>A (p.Leu16=) n.697G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627326A>C | CA412181392 | ARSA | c.305T>G (p.Leu102Arg) c.47T>G (p.Leu16Arg) n.696T>G | |
22 | g.50627326A>G | CA412181395 | ARSA | c.305T>C (p.Leu102Pro) c.47T>C (p.Leu16Pro) n.696T>C | gnomAD v4 |
22 | g.50627326A>T | CA412181396 | ARSA | c.305T>A (p.Leu102Gln) c.47T>A (p.Leu16Gln) n.696T>A | |
22 | g.50627326_50627327delinsAG | CA2410959549 | ARSA | c.304_305delinsCT (p.Leu102=) c.46_47delinsCT (p.Leu16=) n.695_696delinsCT | |
22 | g.50627327G>A | CA515391563 | ARSA | c.304C>T (p.Leu102=) c.46C>T (p.Leu16=) n.695C>T | gnomAD v4 |
22 | g.50627327G>C | CA412181399 | ARSA | c.304C>G (p.Leu102Val) c.46C>G (p.Leu16Val) n.695C>G | |
22 | g.50627327G>T | CA412181401 | ARSA | c.304C>A (p.Leu102Met) c.46C>A (p.Leu16Met) n.695C>A | gnomAD v4 |
22 | g.50627328del | CA278486 | ARSA | c.304del (p.Leu102CysfsTer6) c.46del (p.Leu16CysfsTer6) n.695del | ClinVar dbSNP gnomAD v4 |
22 | g.50627328G>A | CA10325061 | ARSA | c.303C>T (p.Gly101=) c.45C>T (p.Gly15=) n.694C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627328G>C | CA515391565 | ARSA | c.303C>G (p.Gly101=) c.45C>G (p.Gly15=) n.694C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627328G= | CA2410959551 | ARSA | c.303C= (p.Gly101=) c.45C= (p.Gly15=) n.694C= | |
22 | g.50627328G>T | CA515391564 | ARSA | c.303C>A (p.Gly101=) c.45C>A (p.Gly15=) n.694C>A | dbSNP gnomAD v4 |
22 | g.50627328_50627329delinsAA | CA2573158322 | ARSA | c.302_303delinsTT (p.Gly101Val) c.44_45delinsTT (p.Gly15Val) n.693_694delinsTT | ClinVar dbSNP |
22 | g.50627328_50627329delinsGC | CA2410959550 | ARSA | c.302_303delinsGC (p.Gly101=) c.44_45delinsGC (p.Gly15=) n.693_694delinsGC | |
22 | g.50627329C>A | CA219014 | ARSA | c.302G>T (p.Gly101Val) c.44G>T (p.Gly15Val) n.693G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627329C= | CA2410959552 | ARSA | c.302G= (p.Gly101=) c.44G= (p.Gly15=) n.693G= | |
22 | g.50627329C>G | CA412181454 | ARSA | c.302G>C (p.Gly101Ala) c.44G>C (p.Gly15Ala) n.693G>C | gnomAD v4 |
22 | g.50627329C>T | CA115958 | ARSA | c.302G>A (p.Gly101Asp) c.44G>A (p.Gly15Asp) n.693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627335dup | CA10325060 | ARSA | c.302dup (p.Leu102ProfsTer?) c.44dup (p.Leu16ProfsTer?) n.693dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627334_50627335dup | CA2819314736 | ARSA | c.301_302dup (p.Leu102AlafsTer7) c.43_44dup (p.Leu16AlafsTer7) n.692_693dup | |
22 | g.50627335del | CA10325059 | ARSA | c.302del (p.Gly101AlafsTer7) c.44del (p.Gly15AlafsTer7) n.693del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.50627330C>A | CA325531597 | ARSA | c.301G>T (p.Gly101Cys) c.43G>T (p.Gly15Cys) n.692G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627330C= | CA2410959553 | ARSA | c.301G= (p.Gly101=) c.43G= (p.Gly15=) n.692G= | |
22 | g.50627330C>G | CA412181467 | ARSA | c.301G>C (p.Gly101Arg) c.43G>C (p.Gly15Arg) n.692G>C | gnomAD v4 |
22 | g.50627330C>T | CA412181468 | ARSA | c.301G>A (p.Gly101Ser) c.43G>A (p.Gly15Ser) n.692G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627331C>A | CA515391566 | ARSA | c.300G>T (p.Gly100=) c.42G>T (p.Gly14=) n.691G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627331C= | CA2410959554 | ARSA | c.300G= (p.Gly100=) c.42G= (p.Gly14=) n.691G= | |
22 | g.50627331C>G | CA515391567 | ARSA | c.300G>C (p.Gly100=) c.42G>C (p.Gly14=) n.691G>C | ClinVar dbSNP |
22 | g.50627331C>T | CA515391568 | ARSA | c.300G>A (p.Gly100=) c.42G>A (p.Gly14=) n.691G>A | ClinVar |
22 | g.50627332C>A | CA412181474 | ARSA | c.299G>T (p.Gly100Val) c.41G>T (p.Gly14Val) n.690G>T | gnomAD v4 |
22 | g.50627332C= | CA2410959555 | ARSA | c.299G= (p.Gly100=) c.41G= (p.Gly14=) n.690G= | |
22 | g.50627332C>G | CA412181482 | ARSA | c.299G>C (p.Gly100Ala) c.41G>C (p.Gly14Ala) n.690G>C | gnomAD v4 |
22 | g.50627332C>T | CA412181483 | ARSA | c.299G>A (p.Gly100Glu) c.41G>A (p.Gly14Glu) n.690G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627333C>A | CA412181486 | ARSA | c.298G>T (p.Gly100Trp) c.40G>T (p.Gly14Trp) n.689G>T | |
22 | g.50627333C= | CA2410959556 | ARSA | c.298G= (p.Gly100=) c.40G= (p.Gly14=) n.689G= | |
22 | g.50627333C>G | CA10325062 | ARSA | c.298G>C (p.Gly100Arg) c.40G>C (p.Gly14Arg) n.689G>C | dbSNP ExAC gnomAD v2 |
22 | g.50627333C>T | CA412181492 | ARSA | c.298G>A (p.Gly100Arg) c.40G>A (p.Gly14Arg) n.689G>A | dbSNP gnomAD v4 |
22 | g.50627334C>A | CA515391569 | ARSA | c.297G>T (p.Arg99=) c.39G>T (p.Arg13=) n.688G>T | |
22 | g.50627334C= | CA2410959557 | ARSA | c.297G= (p.Arg99=) c.39G= (p.Arg13=) n.688G= | |
22 | g.50627334C>G | CA325531599 | ARSA | c.297G>C (p.Arg99=) c.39G>C (p.Arg13=) n.688G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627334C>T | CA515391570 | ARSA | c.297G>A (p.Arg99=) c.39G>A (p.Arg13=) n.688G>A | ClinVar dbSNP gnomAD v4 |
22 | g.50627335C>A | CA412181503 | ARSA | c.296G>T (p.Arg99Leu) c.38G>T (p.Arg13Leu) n.687G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627335C= | CA2410959558 | ARSA | c.296G= (p.Arg99=) c.38G= (p.Arg13=) n.687G= | |
22 | g.50627335C>G | CA10325063 | ARSA | c.296G>C (p.Arg99Pro) c.38G>C (p.Arg13Pro) n.687G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627335C>T | CA10325064 | ARSA | c.296G>A (p.Arg99Gln) c.38G>A (p.Arg13Gln) n.687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627336G>A | CA412181512 | ARSA | c.295C>T (p.Arg99Trp) c.37C>T (p.Arg13Trp) n.686C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627336G>C | CA412181517 | ARSA | c.295C>G (p.Arg99Gly) c.37C>G (p.Arg13Gly) n.686C>G | gnomAD v4 |
22 | g.50627336G= | CA2410959559 | ARSA | c.295C= (p.Arg99=) c.37C= (p.Arg13=) n.686C= | |
22 | g.50627336G>T | CA515391571 | ARSA | c.295C>A (p.Arg99=) c.37C>A (p.Arg13=) n.686C>A | gnomAD v4 |
22 | g.50627338dup | CA658824689 | ARSA | c.295dup (p.Arg99ProfsTer?) c.37dup (p.Arg13ProfsTer?) n.686dup | ClinVar dbSNP gnomAD v4 |
22 | g.50627337G>A | CA515391572 | ARSA | c.294C>T (p.Ser98=) c.36C>T (p.Ser12=) n.685C>T | dbSNP gnomAD v4 |
22 | g.50627337G>C | CA515391573 | ARSA | c.294C>G (p.Ser98=) c.36C>G (p.Ser12=) n.685C>G | ClinVar dbSNP |
22 | g.50627337G= | CA2410959560 | ARSA | c.294C= (p.Ser98=) c.36C= (p.Ser12=) n.685C= | |
22 | g.50627337G>T | CA515391574 | ARSA | c.294C>A (p.Ser98=) c.36C>A (p.Ser12=) n.685C>A | |
22 | g.50627337_50627338insA | CA916083828 | ARSA | c.293_294insT (p.Arg99ProfsTer?) c.35_36insT (p.Arg13ProfsTer?) n.684_685insT | |
22 | g.50627338G>A | CA115960 | ARSA | c.293C>T (p.Ser98Phe) c.35C>T (p.Ser12Phe) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627338G>C | CA412181539 | ARSA | c.293C>G (p.Ser98Cys) c.35C>G (p.Ser12Cys) n.684C>G | |
22 | g.50627338G= | CA2410959561 | ARSA | c.293C= (p.Ser98=) c.35C= (p.Ser12=) n.684C= | |
22 | g.50627338G>T | CA412181529 | ARSA | c.293C>A (p.Ser98Tyr) c.35C>A (p.Ser12Tyr) n.684C>A | gnomAD v4 |
22 | g.50627338_50627339delinsAG | CA115971 | ARSA | c.292_293delinsCT (p.Ser98Leu) c.34_35delinsCT (p.Ser12Leu) n.683_684delinsCT | ClinVar dbSNP |
22 | g.50627338_50627339delinsGA | CA2410959562 | ARSA | c.292_293delinsTC (p.Ser98=) c.34_35delinsTC (p.Ser12=) n.683_684delinsTC |