Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.1771045G>A | CA2778736736 | CLN8 | c.-10G>A (n.-10G>A) | |
8 | g.1771046C>A | CA170445558 | CLN8 | c.-9C>A (n.-9C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771046C= | CA1757666516 | CLN8 | c.-9C= (n.-9C=) | |
8 | g.1771046C>T | CA849329117 | CLN8 | c.-9C>T (n.-9C>T) | dbSNP |
8 | g.1771047T>C | CA2685938940 | CLN8 | c.-8T>C (n.-8T>C) | gnomAD v4 |
8 | g.1771047T>G | CA2685938941 | CLN8 | c.-8T>G (n.-8T>G) | gnomAD v4 |
8 | g.1771048G>A | CA849329120 | CLN8 | c.-7G>A (n.-7G>A) | dbSNP gnomAD v4 |
8 | g.1771048G>C | CA2685938942 | CLN8 | c.-7G>C (n.-7G>C) | gnomAD v4 |
8 | g.1771048G= | CA1757666517 | CLN8 | c.-7G= (n.-7G=) | |
8 | g.1771049T>C | CA579552589 | CLN8 | c.-6T>C (n.-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771049T>G | CA849329124 | CLN8 | c.-6T>G (n.-6T>G) | dbSNP gnomAD v4 |
8 | g.1771049T= | CA1757666521 | CLN8 | c.-6T= (n.-6T=) | |
8 | g.1771050G>A | CA4599165 | CLN8 | c.-5G>A (n.-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771050G>C | CA2685938943 | CLN8 | c.-5G>C (n.-5G>C) | gnomAD v4 |
8 | g.1771050G= | CA1757666523 | CLN8 | c.-5G= (n.-5G=) | |
8 | g.1771051G>C | CA2685938944 | CLN8 | c.-4G>C (n.-4G>C) | gnomAD v4 |
8 | g.1771051G>T | CA2838226935 | CLN8 | c.-4G>T (n.-4G>T) | |
8 | g.1771052A= | CA1757666524 | CLN8 | c.-3A= (n.-3A=) | |
8 | g.1771052A>G | CA579552590 | CLN8 | c.-3A>G (n.-3A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771053C>A | CA2685938945 | CLN8 | c.-2C>A (n.-2C>A) | gnomAD v4 |
8 | g.1771053C= | CA1757666525 | CLN8 | c.-2C= (n.-2C=) | |
8 | g.1771053C>G | CA579552591 | CLN8 | c.-2C>G (n.-2C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771054A= | CA1757666526 | CLN8 | c.-1A= (n.-1A=) | |
8 | g.1771054A>T | CA314001 | CLN8 | c.-1A>T (n.-1A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771055del | CA579552592 | CLN8 | c.1del (p.Met1Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771055A= | CA1757666530 | CLN8 | c.1A= (p.Met1=) | |
8 | g.1771055A>C | CA10575463 | CLN8 | c.1A>C (p.Met1Leu) | |
8 | g.1771055A>G | CA4599166 | CLN8 | c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.1771055A>T | CA369952679 | CLN8 | c.1A>T (p.Met1Leu) | ClinVar |
8 | g.1771056T>A | CA369952680 | CLN8 | c.2T>A (p.Met1Lys) | |
8 | g.1771056T>C | CA369952681 | CLN8 | c.2T>C (p.Met1Thr) | ClinVar dbSNP |
8 | g.1771056T>G | CA369952682 | CLN8 | c.2T>G (p.Met1Arg) | |
8 | g.1771056T= | CA1757666534 | CLN8 | c.2T= (p.Met1=) | |
8 | g.1771057G>A | CA369952683 | CLN8 | c.3G>A (p.Met1Ile) | |
8 | g.1771057G>C | CA369952684 | CLN8 | c.3G>C (p.Met1Ile) | |
8 | g.1771057G>T | CA369952685 | CLN8 | c.3G>T (p.Met1Ile) | |
8 | g.1771058A>C | CA369952686 | CLN8 | c.4A>C (p.Asn2His) | |
8 | g.1771058A>G | CA369952687 | CLN8 | c.4A>G (p.Asn2Asp) | |
8 | g.1771058A>T | CA369952688 | CLN8 | c.4A>T (p.Asn2Tyr) | |
8 | g.1771059A= | CA1757666537 | CLN8 | c.5A= (p.Asn2=) | |
8 | g.1771059A>C | CA369952689 | CLN8 | c.5A>C (p.Asn2Thr) | |
8 | g.1771059A>G | CA369952691 | CLN8 | c.5A>G (p.Asn2Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.1771059A>T | CA369952690 | CLN8 | c.5A>T (p.Asn2Ile) | |
8 | g.1771060T>A | CA369952692 | CLN8 | c.6T>A (p.Asn2Lys) | |
8 | g.1771060T>C | CA4599167 | CLN8 | c.6T>C (p.Asn2=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771060T>G | CA369952693 | CLN8 | c.6T>G (p.Asn2Lys) | |
8 | g.1771060T= | CA1757666538 | CLN8 | c.6T= (p.Asn2=) | |
8 | g.1771061C>A | CA369952694 | CLN8 | c.7C>A (p.Pro3Thr) | |
8 | g.1771061C= | CA1757666543 | CLN8 | c.7C= (p.Pro3=) | |
8 | g.1771061C>G | CA170445565 | CLN8 | c.7C>G (p.Pro3Ala) | dbSNP gnomAD v4 |
8 | g.1771061C>T | CA369952695 | CLN8 | c.7C>T (p.Pro3Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.1771062C>A | CA369952696 | CLN8 | c.8C>A (p.Pro3His) | |
8 | g.1771062C>G | CA369952697 | CLN8 | c.8C>G (p.Pro3Arg) | |
8 | g.1771062C>T | CA369952698 | CLN8 | c.8C>T (p.Pro3Leu) | gnomAD v4 |
8 | g.1771063T>A | CA459142818 | CLN8 | c.9T>A (p.Pro3=) | |
8 | g.1771063T>C | CA4599168 | CLN8 | c.9T>C (p.Pro3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771063T>G | CA459142817 | CLN8 | c.9T>G (p.Pro3=) | |
8 | g.1771063T= | CA1757666545 | CLN8 | c.9T= (p.Pro3=) | |
8 | g.1771064G>A | CA369952699 | CLN8 | c.10G>A (p.Ala4Thr) | |
8 | g.1771064G>C | CA369952700 | CLN8 | c.10G>C (p.Ala4Pro) | |
8 | g.1771064G>T | CA369952701 | CLN8 | c.10G>T (p.Ala4Ser) | |
8 | g.1771065C>A | CA369952703 | CLN8 | c.11C>A (p.Ala4Glu) | dbSNP |
8 | g.1771065C= | CA1757666547 | CLN8 | c.11C= (p.Ala4=) | |
8 | g.1771065C>G | CA369952702 | CLN8 | c.11C>G (p.Ala4Gly) | |
8 | g.1771065C>T | CA302819 | CLN8 | c.11C>T (p.Ala4Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771066G>A | CA4599169 | CLN8 | c.12G>A (p.Ala4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.1771066G>C | CA4599170 | CLN8 | c.12G>C (p.Ala4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771066G= | CA1757666551 | CLN8 | c.12G= (p.Ala4=) | |
8 | g.1771066G>T | CA459142819 | CLN8 | c.12G>T (p.Ala4=) | ClinVar dbSNP |
8 | g.1771067A>C | CA369952704 | CLN8 | c.13A>C (p.Ser5Arg) | |
8 | g.1771067A>G | CA369952705 | CLN8 | c.13A>G (p.Ser5Gly) | gnomAD v4 |
8 | g.1771067A>T | CA369952706 | CLN8 | c.13A>T (p.Ser5Cys) | |
8 | g.1771068G>A | CA369952707 | CLN8 | c.14G>A (p.Ser5Asn) | |
8 | g.1771068G>C | CA369952708 | CLN8 | c.14G>C (p.Ser5Thr) | |
8 | g.1771068G>T | CA369952709 | CLN8 | c.14G>T (p.Ser5Ile) | |
8 | g.1771069C>A | CA369952710 | CLN8 | c.15C>A (p.Ser5Arg) | |
8 | g.1771069C= | CA1757666553 | CLN8 | c.15C= (p.Ser5=) | |
8 | g.1771069C>G | CA369952711 | CLN8 | c.15C>G (p.Ser5Arg) | ClinVar dbSNP |
8 | g.1771069C>T | CA4599171 | CLN8 | c.15C>T (p.Ser5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771070G>A | CA4599173 | CLN8 | c.16G>A (p.Asp6Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771070G>C | CA314029 | CLN8 | c.16G>C (p.Asp6His) | ClinVar dbSNP gnomAD v4 |
8 | g.1771070G= | CA1757666556 | CLN8 | c.16G= (p.Asp6=) | |
8 | g.1771070G>T | CA4599172 | CLN8 | c.16G>T (p.Asp6Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771071A= | CA1757666557 | CLN8 | c.17A= (p.Asp6=) | |
8 | g.1771071A>C | CA369952712 | CLN8 | c.17A>C (p.Asp6Ala) | |
8 | g.1771071A>G | CA314032 | CLN8 | c.17A>G (p.Asp6Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771071A>T | CA369952713 | CLN8 | c.17A>T (p.Asp6Val) | |
8 | g.1771072T>A | CA369952714 | CLN8 | c.18T>A (p.Asp6Glu) | ClinVar dbSNP |
8 | g.1771072T>C | CA459142820 | CLN8 | c.18T>C (p.Asp6=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771072T>G | CA369952715 | CLN8 | c.18T>G (p.Asp6Glu) | ClinVar |
8 | g.1771072T= | CA1757666558 | CLN8 | c.18T= (p.Asp6=) | |
8 | g.1771073G>A | CA369952716 | CLN8 | c.19G>A (p.Gly7Arg) | ClinVar dbSNP |
8 | g.1771073G>C | CA369952717 | CLN8 | c.19G>C (p.Gly7Arg) | |
8 | g.1771073G= | CA1757666559 | CLN8 | c.19G= (p.Gly7=) | |
8 | g.1771073G>T | CA4599174 | CLN8 | c.19G>T (p.Gly7Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771077dup | CA2832552389 | CLN8 | c.23dup (p.Thr9HisfsTer7) | |
8 | g.1771074G>A | CA369952718 | CLN8 | c.20G>A (p.Gly7Glu) | |
8 | g.1771074G>C | CA369952719 | CLN8 | c.20G>C (p.Gly7Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771074G= | CA1757666560 | CLN8 | c.20G= (p.Gly7=) | |
8 | g.1771074G>T | CA369952720 | CLN8 | c.20G>T (p.Gly7Val) | |
8 | g.1771075G>A | CA4599176 | CLN8 | c.21G>A (p.Gly7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771075G>C | CA4599175 | CLN8 | c.21G>C (p.Gly7=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.1771075G= | CA1757666561 | CLN8 | c.21G= (p.Gly7=) | |
8 | g.1771075G>T | CA459142821 | CLN8 | c.21G>T (p.Gly7=) | COSMIC COSMIC |
8 | g.1771076G>A | CA170445581 | CLN8 | c.22G>A (p.Gly8Ser) | dbSNP |
8 | g.1771076G>C | CA369952721 | CLN8 | c.22G>C (p.Gly8Arg) | |
8 | g.1771076G= | CA1757666562 | CLN8 | c.22G= (p.Gly8=) | |
8 | g.1771076G>T | CA369952722 | CLN8 | c.22G>T (p.Gly8Cys) | |
8 | g.1771077G>A | CA369952723 | CLN8 | c.23G>A (p.Gly8Asp) | |
8 | g.1771077G>C | CA369952724 | CLN8 | c.23G>C (p.Gly8Ala) | |
8 | g.1771077G= | CA1757666563 | CLN8 | c.23G= (p.Gly8=) | |
8 | g.1771077G>T | CA4599177 | CLN8 | c.23G>T (p.Gly8Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771078C>A | CA459142824 | CLN8 | c.24C>A (p.Gly8=) | |
8 | g.1771078C>G | CA459142823 | CLN8 | c.24C>G (p.Gly8=) | |
8 | g.1771078C>T | CA459142822 | CLN8 | c.24C>T (p.Gly8=) | gnomAD v4 |
8 | g.1771079A= | CA1757666564 | CLN8 | c.25A= (p.Thr9=) | |
8 | g.1771079A>C | CA369952725 | CLN8 | c.25A>C (p.Thr9Pro) | |
8 | g.1771079A>G | CA369952726 | CLN8 | c.25A>G (p.Thr9Ala) | dbSNP |
8 | g.1771079A>T | CA369952727 | CLN8 | c.25A>T (p.Thr9Ser) | |
8 | g.1771080C>A | CA369952728 | CLN8 | c.26C>A (p.Thr9Lys) | |
8 | g.1771080C= | CA1757666565 | CLN8 | c.26C= (p.Thr9=) | |
8 | g.1771080C>G | CA369952729 | CLN8 | c.26C>G (p.Thr9Arg) | |
8 | g.1771080C>T | CA369952730 | CLN8 | c.26C>T (p.Thr9Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771081A= | CA1757666566 | CLN8 | c.27A= (p.Thr9=) | |
8 | g.1771081A>C | CA459142825 | CLN8 | c.27A>C (p.Thr9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771081A>G | CA4599178 | CLN8 | c.27A>G (p.Thr9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771081A>T | CA459142826 | CLN8 | c.27A>T (p.Thr9=) | |
8 | g.1771082T>A | CA369952731 | CLN8 | c.28T>A (p.Ser10Thr) | |
8 | g.1771082T>C | CA369952732 | CLN8 | c.28T>C (p.Ser10Pro) | |
8 | g.1771082T>G | CA369952733 | CLN8 | c.28T>G (p.Ser10Ala) | |
8 | g.1771083C>A | CA369952736 | CLN8 | c.29C>A (p.Ser10Ter) | |
8 | g.1771083C= | CA1757666567 | CLN8 | c.29C= (p.Ser10=) | |
8 | g.1771083C>G | CA369952735 | CLN8 | c.29C>G (p.Ser10Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771083C>T | CA369952734 | CLN8 | c.29C>T (p.Ser10Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771084A>C | CA459142827 | CLN8 | c.30A>C (p.Ser10=) | |
8 | g.1771084A>G | CA459142828 | CLN8 | c.30A>G (p.Ser10=) | |
8 | g.1771084A>T | CA459142829 | CLN8 | c.30A>T (p.Ser10=) | |
8 | g.1771085G>A | CA369952737 | CLN8 | c.31G>A (p.Glu11Lys) | |
8 | g.1771085G>C | CA369952738 | CLN8 | c.31G>C (p.Glu11Gln) | gnomAD v4 |
8 | g.1771085G>T | CA369952739 | CLN8 | c.31G>T (p.Glu11Ter) | |
8 | g.1771086A>C | CA369952740 | CLN8 | c.32A>C (p.Glu11Ala) | |
8 | g.1771086A>G | CA369952741 | CLN8 | c.32A>G (p.Glu11Gly) | |
8 | g.1771086A>T | CA369952742 | CLN8 | c.32A>T (p.Glu11Val) | |
8 | g.1771087G>A | CA459142830 | CLN8 | c.33G>A (p.Glu11=) | ClinVar dbSNP |
8 | g.1771087G>C | CA369952743 | CLN8 | c.33G>C (p.Glu11Asp) | |
8 | g.1771087G>T | CA369952744 | CLN8 | c.33G>T (p.Glu11Asp) | |
8 | g.1771088A>C | CA369952745 | CLN8 | c.34A>C (p.Ser12Arg) | |
8 | g.1771088A>G | CA369952746 | CLN8 | c.34A>G (p.Ser12Gly) | |
8 | g.1771088A>T | CA369952747 | CLN8 | c.34A>T (p.Ser12Cys) | |
8 | g.1771089G>A | CA369952748 | CLN8 | c.35G>A (p.Ser12Asn) | dbSNP gnomAD v4 |
8 | g.1771089G>C | CA369952749 | CLN8 | c.35G>C (p.Ser12Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.1771089G= | CA1757666568 | CLN8 | c.35G= (p.Ser12=) | |
8 | g.1771089G>T | CA369952750 | CLN8 | c.35G>T (p.Ser12Ile) | gnomAD v4 |
8 | g.1771090C>A | CA369952751 | CLN8 | c.36C>A (p.Ser12Arg) | |
8 | g.1771090C= | CA1757666569 | CLN8 | c.36C= (p.Ser12=) | |
8 | g.1771090C>G | CA170445587 | CLN8 | c.36C>G (p.Ser12Arg) | dbSNP |
8 | g.1771090C>T | CA459142831 | CLN8 | c.36C>T (p.Ser12=) | |
8 | g.1771091A= | CA1757666570 | CLN8 | c.37A= (p.Ile13=) | |
8 | g.1771091A>C | CA369952752 | CLN8 | c.37A>C (p.Ile13Leu) | |
8 | g.1771091A>G | CA369952753 | CLN8 | c.37A>G (p.Ile13Val) | ClinVar dbSNP |
8 | g.1771091A>T | CA369952754 | CLN8 | c.37A>T (p.Ile13Phe) | |
8 | g.1771092T>A | CA369952755 | CLN8 | c.38T>A (p.Ile13Asn) | |
8 | g.1771092T>C | CA369952756 | CLN8 | c.38T>C (p.Ile13Thr) | gnomAD v4 |
8 | g.1771092T>G | CA369952757 | CLN8 | c.38T>G (p.Ile13Ser) | |
8 | g.1771096dup | CA2838226934 | CLN8 | c.42dup (p.Asp15Ter) | |
8 | g.1771093T>A | CA459142832 | CLN8 | c.39T>A (p.Ile13=) | ClinVar dbSNP |
8 | g.1771093T>C | CA459142833 | CLN8 | c.39T>C (p.Ile13=) | |
8 | g.1771093T>G | CA369952758 | CLN8 | c.39T>G (p.Ile13Met) | ClinVar dbSNP |
8 | g.1771093T= | CA1757666571 | CLN8 | c.39T= (p.Ile13=) | |
8 | g.1771094T>A | CA369952759 | CLN8 | c.40T>A (p.Phe14Ile) | |
8 | g.1771094T>C | CA369952760 | CLN8 | c.40T>C (p.Phe14Leu) | |
8 | g.1771094T>G | CA4599179 | CLN8 | c.40T>G (p.Phe14Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771094T= | CA1757666572 | CLN8 | c.40T= (p.Phe14=) | |
8 | g.1771095T>A | CA369952761 | CLN8 | c.41T>A (p.Phe14Tyr) | |
8 | g.1771095T>C | CA170445591 | CLN8 | c.41T>C (p.Phe14Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771095T>G | CA369952762 | CLN8 | c.41T>G (p.Phe14Cys) | |
8 | g.1771095T= | CA1757666573 | CLN8 | c.41T= (p.Phe14=) | |
8 | g.1771096T>A | CA369952763 | CLN8 | c.42T>A (p.Phe14Leu) | |
8 | g.1771096T>C | CA459142834 | CLN8 | c.42T>C (p.Phe14=) | |
8 | g.1771096T>G | CA369952764 | CLN8 | c.42T>G (p.Phe14Leu) | |
8 | g.1771097del | CA2580614301 | CLN8 | c.43del (p.Asp15ThrfsTer13) | ClinVar |
8 | g.1771097G>A | CA369952765 | CLN8 | c.43G>A (p.Asp15Asn) | |
8 | g.1771097G>C | CA369952767 | CLN8 | c.43G>C (p.Asp15His) | |
8 | g.1771097G= | CA1757666574 | CLN8 | c.43G= (p.Asp15=) | |
8 | g.1771097G>T | CA369952766 | CLN8 | c.43G>T (p.Asp15Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771098A>C | CA369952768 | CLN8 | c.44A>C (p.Asp15Ala) | |
8 | g.1771098A>G | CA369952770 | CLN8 | c.44A>G (p.Asp15Gly) | |
8 | g.1771098A>T | CA369952769 | CLN8 | c.44A>T (p.Asp15Val) | |
8 | g.1771099C>A | CA369952771 | CLN8 | c.45C>A (p.Asp15Glu) | |
8 | g.1771099C= | CA1757666575 | CLN8 | c.45C= (p.Asp15=) | |
8 | g.1771099C>G | CA369952772 | CLN8 | c.45C>G (p.Asp15Glu) | |
8 | g.1771099C>T | CA4599180 | CLN8 | c.45C>T (p.Asp15=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771100C>A | CA264170 | CLN8 | c.46C>A (p.Leu16Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771100C= | CA1757666576 | CLN8 | c.46C= (p.Leu16=) | |
8 | g.1771100C>G | CA369952773 | CLN8 | c.46C>G (p.Leu16Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771100C>T | CA459142835 | CLN8 | c.46C>T (p.Leu16=) | ClinVar dbSNP |
8 | g.1771100_1771101delinsCT | CA1757666577 | CLN8 | c.46_47delinsCT (p.Leu16=) | |
8 | g.1771101del | CA16041179 | CLN8 | c.47del (p.Leu16ArgfsTer12) | ClinVar dbSNP |
8 | g.1771101T>A | CA369952774 | CLN8 | c.47T>A (p.Leu16Gln) | |
8 | g.1771101T>C | CA369952775 | CLN8 | c.47T>C (p.Leu16Pro) | |
8 | g.1771101T>G | CA10605786 | CLN8 | c.47T>G (p.Leu16Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.1771101T= | CA1757666578 | CLN8 | c.47T= (p.Leu16=) | |
8 | g.1771102G>A | CA459142836 | CLN8 | c.48G>A (p.Leu16=) c.1G>A | |
8 | g.1771102G>C | CA459142837 | CLN8 | c.48G>C (p.Leu16=) c.1G>C | ClinVar dbSNP |
8 | g.1771102G>T | CA459142838 | CLN8 | c.48G>T (p.Leu16=) c.1G>T | |
8 | g.1771103G>A | CA369952776 | CLN8 | c.49G>A (p.Asp17Asn) c.2G>A | gnomAD v4 |
8 | g.1771103G>C | CA369952777 | CLN8 | c.49G>C (p.Asp17His) c.2G>C | |
8 | g.1771103G>T | CA369952778 | CLN8 | c.49G>T (p.Asp17Tyr) c.2G>T | |
8 | g.1771103_1771104del | CA913129265 | CLN8 | c.49_50del (p.Asp17LeufsTer?) c.2_3del | |
8 | g.1771103_1771104delinsGA | CA1757666580 | CLN8 | c.49_50delinsGA (p.Asp17=) c.2_3delinsGA | |
8 | g.1771104del | CA658822432 | CLN8 | c.50del (p.Asp17AlafsTer11) c.3del | ClinVar dbSNP |
8 | g.1771104A= | CA1757666585 | CLN8 | c.50A= (p.Asp17=) c.3A= | |
8 | g.1771104A>C | CA369952779 | CLN8 | c.50A>C (p.Asp17Ala) c.3A>C | |
8 | g.1771104A>G | CA314035 | CLN8 | c.50A>G (p.Asp17Gly) c.3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771104A>T | CA4599181 | CLN8 | c.50A>T (p.Asp17Val) c.3A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771105C>A | CA369952780 | CLN8 | c.51C>A (p.Asp17Glu) c.4C>A | |
8 | g.1771105C>G | CA369952781 | CLN8 | c.51C>G (p.Asp17Glu) c.4C>G | gnomAD v4 |
8 | g.1771105C>T | CA459142839 | CLN8 | c.51C>T (p.Asp17=) c.4C>T | |
8 | g.1771106T>A | CA369952782 | CLN8 | c.52T>A (p.Tyr18Asn) c.5T>A | |
8 | g.1771106T>C | CA369952783 | CLN8 | c.52T>C (p.Tyr18His) c.5T>C | |
8 | g.1771106T>G | CA369952784 | CLN8 | c.52T>G (p.Tyr18Asp) c.5T>G | |
8 | g.1771107A= | CA1757666588 | CLN8 | c.53A= (p.Tyr18=) c.6A= | |
8 | g.1771107A>C | CA369952785 | CLN8 | c.53A>C (p.Tyr18Ser) c.6A>C | gnomAD v4 |
8 | g.1771107A>G | CA4599182 | CLN8 | c.53A>G (p.Tyr18Cys) c.6A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1771107A>T | CA314038 | CLN8 | c.53A>T (p.Tyr18Phe) c.6A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771108T>A | CA369952786 | CLN8 | c.54T>A (p.Tyr18Ter) c.7T>A | |
8 | g.1771108T>C | CA459142840 | CLN8 | c.54T>C (p.Tyr18=) c.7T>C | |
8 | g.1771108T>G | CA369952787 | CLN8 | c.54T>G (p.Tyr18Ter) c.7T>G | |
8 | g.1771109G>A | CA369952790 | CLN8 | c.55G>A (p.Ala19Thr) c.8G>A | |
8 | g.1771109G>C | CA369952789 | CLN8 | c.55G>C (p.Ala19Pro) c.8G>C | |
8 | g.1771109G>T | CA369952788 | CLN8 | c.55G>T (p.Ala19Ser) c.8G>T | |
8 | g.1771110C>A | CA170445600 | CLN8 | c.56C>A (p.Ala19Glu) c.9C>A | dbSNP |
8 | g.1771110C= | CA1757666590 | CLN8 | c.56C= (p.Ala19=) c.9C= | |
8 | g.1771110C>G | CA369952791 | CLN8 | c.56C>G (p.Ala19Gly) c.9C>G | |
8 | g.1771110C>T | CA170445602 | CLN8 | c.56C>T (p.Ala19Val) c.9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771111A= | CA1757666591 | CLN8 | c.57A= (p.Ala19=) c.10A= | |
8 | g.1771111A>C | CA459142843 | CLN8 | c.57A>C (p.Ala19=) c.10A>C | dbSNP |
8 | g.1771111A>G | CA459142842 | CLN8 | c.57A>G (p.Ala19=) c.10A>G | ClinVar dbSNP |
8 | g.1771111A>T | CA459142841 | CLN8 | c.57A>T (p.Ala19=) c.10A>T | |
8 | g.1771112T>A | CA369952792 | CLN8 | c.58T>A (p.Ser20Thr) c.11T>A | |
8 | g.1771112T>C | CA369952793 | CLN8 | c.58T>C (p.Ser20Pro) c.11T>C | |
8 | g.1771112T>G | CA369952794 | CLN8 | c.58T>G (p.Ser20Ala) c.11T>G | |
8 | g.1771113C>A | CA369952795 | CLN8 | c.59C>A (p.Ser20Tyr) c.12C>A | |
8 | g.1771113C= | CA1757666593 | CLN8 | c.59C= (p.Ser20=) c.12C= | |
8 | g.1771113C>G | CA314041 | CLN8 | c.59C>G (p.Ser20Cys) c.12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771113C>T | CA170445605 | CLN8 | c.59C>T (p.Ser20Phe) c.12C>T | ClinVar dbSNP gnomAD v4 |
8 | g.1771114C>A | CA459142844 | CLN8 | c.60C>A (p.Ser20=) c.13C>A | gnomAD v4 |
8 | g.1771114C>G | CA459142845 | CLN8 | c.60C>G (p.Ser20=) c.13C>G | |
8 | g.1771114C>T | CA459142846 | CLN8 | c.60C>T (p.Ser20=) c.13C>T | |
8 | g.1771115T>A | CA369952796 | CLN8 | c.61T>A (p.Trp21Arg) c.14T>A | |
8 | g.1771115T>C | CA369952797 | CLN8 | c.61T>C (p.Trp21Arg) c.14T>C | gnomAD v4 |
8 | g.1771115T>G | CA369952798 | CLN8 | c.61T>G (p.Trp21Gly) c.14T>G | |
8 | g.1771115_1771116delinsTG | CA1757666595 | CLN8 | c.61_62delinsTG (p.Trp21=) c.14_15delinsTG | |
8 | g.1771116G>A | CA369952799 | CLN8 | c.62G>A (p.Trp21Ter) c.15G>A | dbSNP |
8 | g.1771116G>C | CA369952801 | CLN8 | c.62G>C (p.Trp21Ser) c.15G>C | gnomAD v4 |
8 | g.1771116G= | CA1757666596 | CLN8 | c.62G= (p.Trp21=) c.15G= | |
8 | g.1771116G>T | CA369952800 | CLN8 | c.62G>T (p.Trp21Leu) c.15G>T | |
8 | g.1771120dup | CA170445608 | CLN8 | c.66dup (p.Ile23AspfsTer?) c.19dup | dbSNP |
8 | g.1771120del | CA264190 | CLN8 | c.66del (p.Ile23SerfsTer5) c.19del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771117G>A | CA369952802 | CLN8 | c.63G>A (p.Trp21Ter) c.16G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771117G>C | CA4599183 | CLN8 | c.63G>C (p.Trp21Cys) c.16G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771117G= | CA1757666598 | CLN8 | c.63G= (p.Trp21=) c.16G= | |
8 | g.1771117G>T | CA369952803 | CLN8 | c.63G>T (p.Trp21Cys) c.16G>T | |
8 | g.1771118G>A | CA369952804 | CLN8 | c.64G>A (p.Gly22Arg) c.17G>A | gnomAD v4 |
8 | g.1771118G>C | CA369952805 | CLN8 | c.64G>C (p.Gly22Arg) c.17G>C | gnomAD v4 |
8 | g.1771118G>T | CA369952806 | CLN8 | c.64G>T (p.Gly22Trp) c.17G>T | |
8 | g.1771119G>A | CA4599185 | CLN8 | c.65G>A (p.Gly22Glu) c.18G>A | dbSNP ExAC gnomAD v2 COSMIC |
8 | g.1771119G>C | CA369952807 | CLN8 | c.65G>C (p.Gly22Ala) c.18G>C | |
8 | g.1771119G= | CA1757666599 | CLN8 | c.65G= (p.Gly22=) c.18G= | |
8 | g.1771119G>T | CA4599184 | CLN8 | c.65G>T (p.Gly22Val) c.18G>T | dbSNP ExAC gnomAD v2 |
8 | g.1771120G>A | CA459142847 | CLN8 | c.66G>A (p.Gly22=) c.19G>A | dbSNP gnomAD v4 |
8 | g.1771120G>C | CA459142848 | CLN8 | c.66G>C (p.Gly22=) c.19G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771120G= | CA1757666601 | CLN8 | c.66G= (p.Gly22=) c.19G= | |
8 | g.1771120G>T | CA4599186 | CLN8 | c.66G>T (p.Gly22=) c.19G>T | dbSNP ExAC gnomAD v2 |
8 | g.1771120_1771128del | CA2685938946 | CLN8 | c.66_74del (p.Ile23_Ser25del) c.19_27del | gnomAD v4 |
8 | g.1771120_1771129delinsGATCCGCTCC | CA1757666600 | CLN8 | c.66_75delinsGATCCGCTCC (p.Gly22=) c.19_28delinsGATCCGCTCC | |
8 | g.1771121del | CA1109661002 | CLN8 | c.67del (p.Ile23SerfsTer5) c.20del | gnomAD v3 gnomAD v4 |
8 | g.1771121A= | CA1757666602 | CLN8 | c.67A= (p.Ile23=) c.20A= | |
8 | g.1771121A>C | CA369952809 | CLN8 | c.67A>C (p.Ile23Leu) c.20A>C | |
8 | g.1771121A>G | CA369952810 | CLN8 | c.67A>G (p.Ile23Val) c.20A>G | dbSNP gnomAD v4 |
8 | g.1771121A>T | CA369952808 | CLN8 | c.67A>T (p.Ile23Phe) c.20A>T | |
8 | g.1771122_1771130del | CA849329387 | CLN8 | c.68_76del (p.Ile23_Ser25del) c.21_29del | ClinVar dbSNP |
8 | g.1771122T>A | CA369952813 | CLN8 | c.68T>A (p.Ile23Asn) c.21T>A | gnomAD v4 |
8 | g.1771122T>C | CA369952811 | CLN8 | c.68T>C (p.Ile23Thr) c.21T>C | |
8 | g.1771122T>G | CA369952812 | CLN8 | c.68T>G (p.Ile23Ser) c.21T>G | |
8 | g.1771123C>A | CA459142849 | CLN8 | c.69C>A (p.Ile23=) c.22C>A | |
8 | g.1771123C>G | CA369952814 | CLN8 | c.69C>G (p.Ile23Met) c.22C>G | COSMIC COSMIC |
8 | g.1771123C>T | CA459142850 | CLN8 | c.69C>T (p.Ile23=) c.22C>T | |
8 | g.1771124_1771131del | CA1109661011 | CLN8 | c.70_77del (p.Arg24AlafsTer?) c.23_30del | gnomAD v3 gnomAD v4 |
8 | g.1771124C>A | CA369952815 | CLN8 | c.70C>A (p.Arg24Ser) c.23C>A | |
8 | g.1771124C= | CA1757666603 | CLN8 | c.70C= (p.Arg24=) c.23C= | |
8 | g.1771124C>G | CA340024 | CLN8 | c.70C>G (p.Arg24Gly) c.23C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771124C>T | CA4599187 | CLN8 | c.70C>T (p.Arg24Cys) c.23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1771125G>A | CA4599188 | CLN8 | c.71G>A (p.Arg24His) c.24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771125G>C | CA369952816 | CLN8 | c.71G>C (p.Arg24Pro) c.24G>C | |
8 | g.1771125G= | CA1757666604 | CLN8 | c.71G= (p.Arg24=) c.24G= | |
8 | g.1771125G>T | CA369952817 | CLN8 | c.71G>T (p.Arg24Leu) c.24G>T | ClinVar gnomAD v4 |
8 | g.1771126C>A | CA459142852 | CLN8 | c.72C>A (p.Arg24=) c.25C>A | |
8 | g.1771126C= | CA1757666606 | CLN8 | c.72C= (p.Arg24=) c.25C= | |
8 | g.1771126C>G | CA459142851 | CLN8 | c.72C>G (p.Arg24=) c.25C>G | |
8 | g.1771126C>T | CA4599189 | CLN8 | c.72C>T (p.Arg24=) c.25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771127T>A | CA369952818 | CLN8 | c.73T>A (p.Ser25Thr) c.26T>A | |
8 | g.1771127T>C | CA4599190 | CLN8 | c.73T>C (p.Ser25Pro) c.26T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771127T>G | CA369952819 | CLN8 | c.73T>G (p.Ser25Ala) c.26T>G | |
8 | g.1771127T= | CA1757666608 | CLN8 | c.73T= (p.Ser25=) c.26T= | |
8 | g.1771128C>A | CA369952820 | CLN8 | c.74C>A (p.Ser25Tyr) c.27C>A | |
8 | g.1771128C= | CA1757666701 | CLN8 | c.74C= (p.Ser25=) c.27C= | |
8 | g.1771128C>G | CA369952822 | CLN8 | c.74C>G (p.Ser25Cys) c.27C>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771128C>T | CA369952821 | CLN8 | c.74C>T (p.Ser25Phe) c.27C>T | |
8 | g.1771129C>A | CA459142853 | CLN8 | c.75C>A (p.Ser25=) c.28C>A | |
8 | g.1771129C= | CA1757666704 | CLN8 | c.75C= (p.Ser25=) c.28C= | |
8 | g.1771129C>G | CA459142854 | CLN8 | c.75C>G (p.Ser25=) c.28C>G | |
8 | g.1771129C>T | CA459142855 | CLN8 | c.75C>T (p.Ser25=) c.28C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1771130A= | CA1757666707 | CLN8 | c.76A= (p.Thr26=) c.29A= | |
8 | g.1771130A>C | CA369952823 | CLN8 | c.76A>C (p.Thr26Pro) c.29A>C | |
8 | g.1771130A>G | CA369952824 | CLN8 | c.76A>G (p.Thr26Ala) c.29A>G | |
8 | g.1771130A>T | CA369952825 | CLN8 | c.76A>T (p.Thr26Ser) c.29A>T | ClinVar dbSNP |
8 | g.1771131C>A | CA369952826 | CLN8 | c.77C>A (p.Thr26Lys) c.30C>A | |
8 | g.1771131C= | CA1757666713 | CLN8 | c.77C= (p.Thr26=) c.30C= | |
8 | g.1771131C>G | CA369952827 | CLN8 | c.77C>G (p.Thr26Arg) c.30C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771131C>T | CA4599191 | CLN8 | c.77C>T (p.Thr26Met) c.30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1771132G>A | CA170445623 | CLN8 | c.78G>A (p.Thr26=) c.31G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.1771132G>C | CA459142857 | CLN8 | c.78G>C (p.Thr26=) c.31G>C | gnomAD v4 |
8 | g.1771132G= | CA1757666719 | CLN8 | c.78G= (p.Thr26=) c.31G= | |
8 | g.1771132G>T | CA459142856 | CLN8 | c.78G>T (p.Thr26=) c.31G>T | |
8 | g.1771133C>A | CA369952828 | CLN8 | c.79C>A (p.Leu27Met) c.32C>A | |
8 | g.1771133C= | CA1757666721 | CLN8 | c.79C= (p.Leu27=) c.32C= | |
8 | g.1771133C>G | CA369952829 | CLN8 | c.79C>G (p.Leu27Val) c.32C>G | dbSNP gnomAD v4 |
8 | g.1771133C>T | CA459142858 | CLN8 | c.79C>T (p.Leu27=) c.32C>T | |
8 | g.1771134T>A | CA369952830 | CLN8 | c.80T>A (p.Leu27Gln) c.33T>A | |
8 | g.1771134T>C | CA369952831 | CLN8 | c.80T>C (p.Leu27Pro) c.33T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771134T>G | CA369952832 | CLN8 | c.80T>G (p.Leu27Arg) c.33T>G | |
8 | g.1771134T= | CA1757666726 | CLN8 | c.80T= (p.Leu27=) c.33T= | |
8 | g.1771135G>A | CA459142859 | CLN8 | c.81G>A (p.Leu27=) c.34G>A | |
8 | g.1771135G>C | CA459142860 | CLN8 | c.81G>C (p.Leu27=) c.34G>C | |
8 | g.1771135G>T | CA459142861 | CLN8 | c.81G>T (p.Leu27=) c.34G>T | |
8 | g.1771136A= | CA1757666728 | CLN8 | c.82A= (p.Met28=) c.35A= | |
8 | g.1771136A>C | CA369952834 | CLN8 | c.82A>C (p.Met28Leu) c.35A>C | |
8 | g.1771136A>G | CA369952835 | CLN8 | c.82A>G (p.Met28Val) c.35A>G | |
8 | g.1771136A>T | CA369952833 | CLN8 | c.82A>T (p.Met28Leu) c.35A>T | dbSNP gnomAD v4 |
8 | g.1771137T>A | CA369952836 | CLN8 | c.83T>A (p.Met28Lys) c.36T>A | |
8 | g.1771137T>C | CA369952837 | CLN8 | c.83T>C (p.Met28Thr) c.36T>C | |
8 | g.1771137T>G | CA369952838 | CLN8 | c.83T>G (p.Met28Arg) c.36T>G | |
8 | g.1771138G>A | CA170445625 | CLN8 | c.84G>A (p.Met28Ile) c.37G>A | dbSNP COSMIC COSMIC |
8 | g.1771138G>C | CA369952839 | CLN8 | c.84G>C (p.Met28Ile) c.37G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771138G= | CA1757666731 | CLN8 | c.84G= (p.Met28=) c.37G= | |
8 | g.1771138G>T | CA369952840 | CLN8 | c.84G>T (p.Met28Ile) c.37G>T | COSMIC COSMIC |
8 | g.1771139G>A | CA369952841 | CLN8 | c.85G>A (p.Val29Ile) c.38G>A | |
8 | g.1771139G>C | CA369952842 | CLN8 | c.85G>C (p.Val29Leu) c.38G>C | |
8 | g.1771139G= | CA1757666736 | CLN8 | c.85G= (p.Val29=) c.38G= | |
8 | g.1771139G>T | CA4599192 | CLN8 | c.85G>T (p.Val29Phe) c.38G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771140T>A | CA369952843 | CLN8 | c.86T>A (p.Val29Asp) c.39T>A | |
8 | g.1771140T>C | CA369952844 | CLN8 | c.86T>C (p.Val29Ala) c.39T>C | |
8 | g.1771140T>G | CA369952845 | CLN8 | c.86T>G (p.Val29Gly) c.39T>G | |
8 | g.1771141C>A | CA4599193 | CLN8 | c.87C>A (p.Val29=) c.40C>A | dbSNP ExAC gnomAD v2 |
8 | g.1771141C= | CA1757666741 | CLN8 | c.87C= (p.Val29=) c.40C= | |
8 | g.1771141C>G | CA459142863 | CLN8 | c.87C>G (p.Val29=) c.40C>G | |
8 | g.1771141C>T | CA459142862 | CLN8 | c.87C>T (p.Val29=) c.40C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1771141_1771142delinsCG | CA1757666740 | CLN8 | c.87_88delinsCG (p.Val29=) c.40_41delinsCG | |
8 | g.1771142del | CA264194 | CLN8 | c.88del (p.Ala30LeufsTer20) c.41del | ClinVar dbSNP |
8 | g.1771142G>A | CA4599195 | CLN8 | c.88G>A (p.Ala30Thr) c.41G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771142G>C | CA252420 | CLN8 | c.88G>C (p.Ala30Pro) c.41G>C | ClinVar dbSNP |
8 | g.1771142G= | CA1757666753 | CLN8 | c.88G= (p.Ala30=) c.41G= | |
8 | g.1771142G>T | CA4599194 | CLN8 | c.88G>T (p.Ala30Ser) c.41G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771143C>A | CA369952846 | CLN8 | c.89C>A (p.Ala30Asp) c.42C>A | |
8 | g.1771143C>G | CA369952847 | CLN8 | c.89C>G (p.Ala30Gly) c.42C>G | |
8 | g.1771143C>T | CA369952848 | CLN8 | c.89C>T (p.Ala30Val) c.42C>T | gnomAD v4 |
8 | g.1771144T>A | CA459142864 | CLN8 | c.90T>A (p.Ala30=) c.43T>A | |
8 | g.1771144T>C | CA4599196 | CLN8 | c.90T>C (p.Ala30=) c.43T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771144T>G | CA170445637 | CLN8 | c.90T>G (p.Ala30=) c.43T>G | ClinVar dbSNP |
8 | g.1771144T= | CA1757666757 | CLN8 | c.90T= (p.Ala30=) c.43T= | |
8 | g.1771145G>A | CA369952851 | CLN8 | c.91G>A (p.Gly31Ser) c.44G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771145G>C | CA369952850 | CLN8 | c.91G>C (p.Gly31Arg) c.44G>C | |
8 | g.1771145G= | CA1757666760 | CLN8 | c.91G= (p.Gly31=) c.44G= | |
8 | g.1771145G>T | CA369952849 | CLN8 | c.91G>T (p.Gly31Cys) c.44G>T |