UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.87610867C>A | CA2671358099 | DSPP | c.-28-14C>A (n.-28-14C>A) | gnomAD v4 |
| 4 | g.87610867C= | CA1474383729 | DSPP | c.-28-14C= (n.-28-14C=) | |
| 4 | g.87610867C>G | CA100848009 | DSPP | c.-28-14C>G (n.-28-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610867C>T | CA1474383728 | DSPP | c.-28-14C>T (n.-28-14C>T) | dbSNP |
| 4 | g.87610868C>T | CA2671358100 | DSPP | c.-28-13C>T (n.-28-13C>T) | gnomAD v4 |
| 4 | g.87610868_87610869delinsCT | CA1474383730 | DSPP | c.-28-13_-28-12delinsCT (n.-28-13_-28-12delinsCT) | |
| 4 | g.87610869T>C | CA2671358101 | DSPP | c.-28-12T>C (n.-28-12T>C) | gnomAD v4 |
| 4 | g.87610869T>G | CA1474383732 | DSPP | c.-28-12T>G (n.-28-12T>G) | dbSNP gnomAD v4 |
| 4 | g.87610869T= | CA1474383731 | DSPP | c.-28-12T= (n.-28-12T=) | |
| 4 | g.87610874dup | CA1065114187 | DSPP | c.-28-7dup (n.-28-7dup) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610874del | CA3000787 | DSPP | c.-28-7del (n.-28-7del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610873T>C | CA2671358102 | DSPP | c.-28-8T>C (n.-28-8T>C) | gnomAD v4 |
| 4 | g.87610874T>C | CA2578139674 | DSPP | c.-28-7T>C (n.-28-7T>C) | |
| 4 | g.87610876_87610877dup | CA2671358103 | DSPP | c.-28-5_-28-4dup (n.-28-5_-28-4dup) | gnomAD v4 |
| 4 | g.87610875A>C | CA2578139675 | DSPP | c.-28-6A>C (n.-28-6A>C) | gnomAD v4 |
| 4 | g.87610875A>G | CA2671358104 | DSPP | c.-28-6A>G (n.-28-6A>G) | gnomAD v4 |
| 4 | g.87610876T>C | CA3000788 | DSPP | c.-28-5T>C (n.-28-5T>C) c.-33T>C (n.-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610876T= | CA1474383733 | DSPP | c.-28-5T= (n.-28-5T=) c.-33T= (n.-33T=) | |
| 4 | g.87610877A>G | CA2578139676 | DSPP | c.-28-4A>G (n.-28-4A>G) c.-32A>G (n.-32A>G) | gnomAD v4 |
| 4 | g.87610878del | CA2671358105 | DSPP | c.-28-3del (n.-28-3del) c.-31del (n.-31del) | gnomAD v4 |
| 4 | g.87610879A= | CA1474383734 | DSPP | c.-28-2A= (n.-28-2A=) c.-30A= (n.-30A=) | |
| 4 | g.87610879A>G | CA799576374 | DSPP | c.-28-2A>G (n.-28-2A>G) c.-30A>G (n.-30A>G) | dbSNP gnomAD v4 |
| 4 | g.87610881C>A | CA799576377 | DSPP | c.-28C>A (n.-28C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610881C= | CA1474383735 | DSPP | c.-28C= (n.-28C=) | |
| 4 | g.87610881C>G | CA2671358106 | DSPP | c.-28C>G (n.-28C>G) | gnomAD v4 |
| 4 | g.87610881C>T | CA2671358107 | DSPP | c.-28C>T (n.-28C>T) | gnomAD v4 |
| 4 | g.87610883A= | CA1474383736 | DSPP | c.-26A= (n.-26A=) | |
| 4 | g.87610883A>G | CA2671358108 | DSPP | c.-26A>G (n.-26A>G) | gnomAD v4 |
| 4 | g.87610883A>T | CA1065114198 | DSPP | c.-26A>T (n.-26A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610884T>C | CA2671358109 | DSPP | c.-25T>C (n.-25T>C) | gnomAD v4 |
| 4 | g.87610884T= | CA1474383737 | DSPP | c.-25T= (n.-25T=) | |
| 4 | g.87610885T>C | CA2671358110 | DSPP | c.-24T>C (n.-24T>C) | gnomAD v4 |
| 4 | g.87610886_87610891dup | CA3000789 | DSPP | c.-23_-18dup (n.-23_-18dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610886G>A | CA100848065 | DSPP | c.-23G>A (n.-23G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610886G= | CA1474383738 | DSPP | c.-23G= (n.-23G=) | |
| 4 | g.87610886G>T | CA1474383740 | DSPP | c.-23G>T (n.-23G>T) | dbSNP gnomAD v4 |
| 4 | g.87610886_87610889delinsGATT | CA1474383739 | DSPP | c.-23_-20delinsGATT (n.-23_-20delinsGATT) | |
| 4 | g.87610887A= | CA1474383741 | DSPP | c.-22A= (n.-22A=) | |
| 4 | g.87610887A>G | CA100848067 | DSPP | c.-22A>G (n.-22A>G) | dbSNP gnomAD v4 |
| 4 | g.87610896_87610898del | CA552859212 | DSPP | c.-13_-11del (n.-13_-11del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610888T>A | CA2578139677 | DSPP | c.-21T>A (n.-21T>A) | gnomAD v4 |
| 4 | g.87610888T>C | CA658796447 | DSPP | c.-21T>C (n.-21T>C) | ClinVar dbSNP |
| 4 | g.87610888T= | CA1474383742 | DSPP | c.-21T= (n.-21T=) | |
| 4 | g.87610889T>G | CA1474383744 | DSPP | c.-20T>G (n.-20T>G) | dbSNP gnomAD v4 |
| 4 | g.87610889T= | CA1474383743 | DSPP | c.-20T= (n.-20T=) | |
| 4 | g.87610891T>C | CA2671358111 | DSPP | c.-18T>C (n.-18T>C) | gnomAD v4 |
| 4 | g.87610894T>A | CA3000790 | DSPP | c.-15T>A (n.-15T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610894T>C | CA3000791 | DSPP | c.-15T>C (n.-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610894T= | CA1474383745 | DSPP | c.-15T= (n.-15T=) | |
| 4 | g.87610895_87610898dup | CA2671358112 | DSPP | c.-14_-11dup (n.-14_-11dup) | gnomAD v4 |
| 4 | g.87610897T>C | CA2671358113 | DSPP | c.-12T>C (n.-12T>C) | gnomAD v4 |
| 4 | g.87610898T>C | CA799576395 | DSPP | c.-11T>C (n.-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610898T>G | CA3000792 | DSPP | c.-11T>G (n.-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610898T= | CA1474383746 | DSPP | c.-11T= (n.-11T=) | |
| 4 | g.87610899C= | CA1474383747 | DSPP | c.-10C= (n.-10C=) | |
| 4 | g.87610899C>G | CA100848107 | DSPP | c.-10C>G (n.-10C>G) | dbSNP gnomAD v4 |
| 4 | g.87610899C>T | CA2671358114 | DSPP | c.-10C>T (n.-10C>T) | gnomAD v4 |
| 4 | g.87610900C= | CA1474383748 | DSPP | c.-9C= (n.-9C=) | |
| 4 | g.87610900C>G | CA1474383749 | DSPP | c.-9C>G (n.-9C>G) | dbSNP |
| 4 | g.87610900C>T | CA552859214 | DSPP | c.-9C>T (n.-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610901T>C | CA3000793 | DSPP | c.-8T>C (n.-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610901T= | CA1474383750 | DSPP | c.-8T= (n.-8T=) | |
| 4 | g.87610905G>A | CA1065114215 | DSPP | c.-4G>A (n.-4G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610905G= | CA1474383751 | DSPP | c.-4G= (n.-4G=) | |
| 4 | g.87610905G>T | CA552859216 | DSPP | c.-4G>T (n.-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610906A= | CA1474383752 | DSPP | c.-3A= (n.-3A=) | |
| 4 | g.87610906A>G | CA552859217 | DSPP | c.-3A>G (n.-3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610909A>C | CA357601807 | DSPP | c.1A>C (p.Met1Leu) | |
| 4 | g.87610909A>G | CA357601808 | DSPP | c.1A>G (p.Met1Val) | |
| 4 | g.87610909A>T | CA357601809 | DSPP | c.1A>T (p.Met1Leu) | |
| 4 | g.87610910T>A | CA357601812 | DSPP | c.2T>A (p.Met1Lys) | |
| 4 | g.87610910T>C | CA357601810 | DSPP | c.2T>C (p.Met1Thr) | |
| 4 | g.87610910T>G | CA357601811 | DSPP | c.2T>G (p.Met1Arg) | |
| 4 | g.87610911G>A | CA357601813 | DSPP | c.3G>A (p.Met1Ile) | |
| 4 | g.87610911G>C | CA357601814 | DSPP | c.3G>C (p.Met1Ile) | |
| 4 | g.87610911G= | CA1474383753 | DSPP | c.3G= (p.Met1=) | |
| 4 | g.87610911G>T | CA357601815 | DSPP | c.3G>T (p.Met1Ile) | dbSNP COSMIC |
| 4 | g.87610912A>C | CA357601816 | DSPP | c.4A>C (p.Lys2Gln) | |
| 4 | g.87610912A>G | CA357601817 | DSPP | c.4A>G (p.Lys2Glu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.87610912A>T | CA357601818 | DSPP | c.4A>T (p.Lys2Ter) | |
| 4 | g.87610913A>C | CA357601819 | DSPP | c.5A>C (p.Lys2Thr) | |
| 4 | g.87610913A>G | CA357601820 | DSPP | c.5A>G (p.Lys2Arg) | |
| 4 | g.87610913A>T | CA357601821 | DSPP | c.5A>T (p.Lys2Met) | |
| 4 | g.87610914G>A | CA440253905 | DSPP | c.6G>A (p.Lys2=) | |
| 4 | g.87610914G>C | CA357601822 | DSPP | c.6G>C (p.Lys2Asn) | |
| 4 | g.87610914G>T | CA357601823 | DSPP | c.6G>T (p.Lys2Asn) | |
| 4 | g.87610915A>C | CA357601825 | DSPP | c.7A>C (p.Ile3Leu) | |
| 4 | g.87610915A>G | CA357601826 | DSPP | c.7A>G (p.Ile3Val) | |
| 4 | g.87610915A>T | CA357601824 | DSPP | c.7A>T (p.Ile3Leu) | |
| 4 | g.87610916T>A | CA357601829 | DSPP | c.8T>A (p.Ile3Lys) | |
| 4 | g.87610916T>C | CA357601827 | DSPP | c.8T>C (p.Ile3Thr) | |
| 4 | g.87610916T>G | CA357601828 | DSPP | c.8T>G (p.Ile3Arg) | |
| 4 | g.87610917A>C | CA440253907 | DSPP | c.9A>C (p.Ile3=) | |
| 4 | g.87610917A>G | CA357601830 | DSPP | c.9A>G (p.Ile3Met) | |
| 4 | g.87610917A>T | CA440253908 | DSPP | c.9A>T (p.Ile3=) | gnomAD v4 |
| 4 | g.87610918A>C | CA357601831 | DSPP | c.10A>C (p.Ile4Leu) | ClinVar |
| 4 | g.87610918A>G | CA357601832 | DSPP | c.10A>G (p.Ile4Val) | |
| 4 | g.87610918A>T | CA357601833 | DSPP | c.10A>T (p.Ile4Phe) | |
| 4 | g.87610919T>A | CA357601834 | DSPP | c.11T>A (p.Ile4Asn) | |
| 4 | g.87610919T>C | CA357601835 | DSPP | c.11T>C (p.Ile4Thr) | |
| 4 | g.87610919T>G | CA357601836 | DSPP | c.11T>G (p.Ile4Ser) | dbSNP |
| 4 | g.87610919T= | CA1474383754 | DSPP | c.11T= (p.Ile4=) | |
| 4 | g.87610920T>A | CA440253909 | DSPP | c.12T>A (p.Ile4=) | |
| 4 | g.87610920T>C | CA440253910 | DSPP | c.12T>C (p.Ile4=) | |
| 4 | g.87610920T>G | CA357601837 | DSPP | c.12T>G (p.Ile4Met) | |
| 4 | g.87610921A>C | CA357601838 | DSPP | c.13A>C (p.Thr5Pro) | |
| 4 | g.87610921A>G | CA357601839 | DSPP | c.13A>G (p.Thr5Ala) | |
| 4 | g.87610921A>T | CA357601840 | DSPP | c.13A>T (p.Thr5Ser) | |
| 4 | g.87610922C>A | CA357601843 | DSPP | c.14C>A (p.Thr5Lys) | |
| 4 | g.87610922C>G | CA357601841 | DSPP | c.14C>G (p.Thr5Arg) | |
| 4 | g.87610922C>T | CA357601842 | DSPP | c.14C>T (p.Thr5Ile) | gnomAD v4 COSMIC |
| 4 | g.87610923A>C | CA440253913 | DSPP | c.15A>C (p.Thr5=) | |
| 4 | g.87610923A>G | CA440253912 | DSPP | c.15A>G (p.Thr5=) | |
| 4 | g.87610923A>T | CA440253911 | DSPP | c.15A>T (p.Thr5=) | |
| 4 | g.87610924T>A | CA357601844 | DSPP | c.16T>A (p.Tyr6Asn) | |
| 4 | g.87610924T>C | CA357601845 | DSPP | c.16T>C (p.Tyr6His) | |
| 4 | g.87610924T>G | CA126928 | DSPP | c.16T>G (p.Tyr6Asp) | ClinVar dbSNP |
| 4 | g.87610924T= | CA1474383755 | DSPP | c.16T= (p.Tyr6=) | |
| 4 | g.87610925A= | CA1474383756 | DSPP | c.17A= (p.Tyr6=) | |
| 4 | g.87610925A>C | CA357601846 | DSPP | c.17A>C (p.Tyr6Ser) | |
| 4 | g.87610925A>G | CA357601847 | DSPP | c.17A>G (p.Tyr6Cys) | gnomAD v4 |
| 4 | g.87610925A>T | CA357601848 | DSPP | c.17A>T (p.Tyr6Phe) | |
| 4 | g.87610926T>A | CA357601849 | DSPP | c.18T>A (p.Tyr6Ter) | |
| 4 | g.87610926T>C | CA440253914 | DSPP | c.18T>C (p.Tyr6=) | |
| 4 | g.87610926T>G | CA357601850 | DSPP | c.18T>G (p.Tyr6Ter) | |
| 4 | g.87610930dup | CA1065114239 | DSPP | c.22dup (p.Cys8LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87610927T>A | CA3000794 | DSPP | c.19T>A (p.Phe7Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610927T>C | CA357601851 | DSPP | c.19T>C (p.Phe7Leu) | |
| 4 | g.87610927T>G | CA357601852 | DSPP | c.19T>G (p.Phe7Val) | ClinVar dbSNP |
| 4 | g.87610927T= | CA1474383757 | DSPP | c.19T= (p.Phe7=) | |
| 4 | g.87610928T>A | CA357601855 | DSPP | c.20T>A (p.Phe7Tyr) | |
| 4 | g.87610928T>C | CA357601854 | DSPP | c.20T>C (p.Phe7Ser) | |
| 4 | g.87610928T>G | CA357601853 | DSPP | c.20T>G (p.Phe7Cys) | |
| 4 | g.87610929T>A | CA357601856 | DSPP | c.21T>A (p.Phe7Leu) | |
| 4 | g.87610929T>C | CA440253915 | DSPP | c.21T>C (p.Phe7=) | |
| 4 | g.87610929T>G | CA357601857 | DSPP | c.21T>G (p.Phe7Leu) | |
| 4 | g.87610930T>A | CA357601858 | DSPP | c.22T>A (p.Cys8Ser) | |
| 4 | g.87610930T>C | CA357601859 | DSPP | c.22T>C (p.Cys8Arg) | |
| 4 | g.87610930T>G | CA357601860 | DSPP | c.22T>G (p.Cys8Gly) | |
| 4 | g.87610931del | CA2671358115 | DSPP | c.23del (p.Cys8SerfsTer5) | gnomAD v4 |
| 4 | g.87610931G>A | CA357601861 | DSPP | c.23G>A (p.Cys8Tyr) | gnomAD v4 |
| 4 | g.87610931G>C | CA357601862 | DSPP | c.23G>C (p.Cys8Ser) | |
| 4 | g.87610931G>T | CA357601863 | DSPP | c.23G>T (p.Cys8Phe) | |
| 4 | g.87610932C>A | CA357601864 | DSPP | c.24C>A (p.Cys8Ter) | |
| 4 | g.87610932C>G | CA357601865 | DSPP | c.24C>G (p.Cys8Trp) | |
| 4 | g.87610932C>T | CA440253916 | DSPP | c.24C>T (p.Cys8=) | |
| 4 | g.87610933A= | CA1474383758 | DSPP | c.25A= (p.Ile9=) | |
| 4 | g.87610933A>C | CA357601866 | DSPP | c.25A>C (p.Ile9Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610933A>G | CA357601867 | DSPP | c.25A>G (p.Ile9Val) | |
| 4 | g.87610933A>T | CA357601868 | DSPP | c.25A>T (p.Ile9Phe) | gnomAD v4 |
| 4 | g.87610934T>A | CA357601871 | DSPP | c.26T>A (p.Ile9Asn) | |
| 4 | g.87610934T>C | CA357601869 | DSPP | c.26T>C (p.Ile9Thr) | |
| 4 | g.87610934T>G | CA357601870 | DSPP | c.26T>G (p.Ile9Ser) | |
| 4 | g.87610935T>A | CA440253917 | DSPP | c.27T>A (p.Ile9=) | |
| 4 | g.87610935T>C | CA440253918 | DSPP | c.27T>C (p.Ile9=) | |
| 4 | g.87610935T>G | CA357601872 | DSPP | c.27T>G (p.Ile9Met) | COSMIC |
| 4 | g.87610936T>A | CA357601873 | DSPP | c.28T>A (p.Trp10Arg) | |
| 4 | g.87610936T>C | CA357601874 | DSPP | c.28T>C (p.Trp10Arg) | |
| 4 | g.87610936T>G | CA357601875 | DSPP | c.28T>G (p.Trp10Gly) | |
| 4 | g.87610937G>A | CA357601876 | DSPP | c.29G>A (p.Trp10Ter) | COSMIC |
| 4 | g.87610937G>C | CA357601877 | DSPP | c.29G>C (p.Trp10Ser) | |
| 4 | g.87610937G>T | CA357601878 | DSPP | c.29G>T (p.Trp10Leu) | |
| 4 | g.87610938G>A | CA357601879 | DSPP | c.30G>A (p.Trp10Ter) | |
| 4 | g.87610938G>C | CA357601880 | DSPP | c.30G>C (p.Trp10Cys) | |
| 4 | g.87610938G>T | CA357601881 | DSPP | c.30G>T (p.Trp10Cys) | |
| 4 | g.87610939G>A | CA357601882 | DSPP | c.31G>A (p.Ala11Thr) | |
| 4 | g.87610939G>C | CA357601883 | DSPP | c.31G>C (p.Ala11Pro) | |
| 4 | g.87610939G>T | CA357601884 | DSPP | c.31G>T (p.Ala11Ser) | |
| 4 | g.87610940C>A | CA3000795 | DSPP | c.32C>A (p.Ala11Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610940C= | CA1474383759 | DSPP | c.32C= (p.Ala11=) | |
| 4 | g.87610940C>G | CA357601886 | DSPP | c.32C>G (p.Ala11Gly) | dbSNP |
| 4 | g.87610940C>T | CA357601885 | DSPP | c.32C>T (p.Ala11Val) | gnomAD v4 |
| 4 | g.87610941A>C | CA440253919 | DSPP | c.33A>C (p.Ala11=) | |
| 4 | g.87610941A>G | CA440253920 | DSPP | c.33A>G (p.Ala11=) | |
| 4 | g.87610941A>T | CA440253921 | DSPP | c.33A>T (p.Ala11=) | |
| 4 | g.87610942G>A | CA357601887 | DSPP | c.34G>A (p.Val12Ile) | |
| 4 | g.87610942G>C | CA357601888 | DSPP | c.34G>C (p.Val12Leu) | |
| 4 | g.87610942G>T | CA357601889 | DSPP | c.34G>T (p.Val12Leu) | |
| 4 | g.87610943T>A | CA357601890 | DSPP | c.35T>A (p.Val12Glu) | |
| 4 | g.87610943T>C | CA3000796 | DSPP | c.35T>C (p.Val12Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610943T>G | CA357601891 | DSPP | c.35T>G (p.Val12Gly) | |
| 4 | g.87610943T= | CA1474383761 | DSPP | c.35T= (p.Val12=) | |
| 4 | g.87610943_87610947delinsTAGCA | CA1474383760 | DSPP | c.35_39delinsTAGCA (p.Val12=) | |
| 4 | g.87610944A= | CA1474383763 | DSPP | c.36A= (p.Val12=) | |
| 4 | g.87610944A>C | CA440253922 | DSPP | c.36A>C (p.Val12=) | |
| 4 | g.87610944A>G | CA100848126 | DSPP | c.36A>G (p.Val12=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610944A>T | CA440253923 | DSPP | c.36A>T (p.Val12=) | |
| 4 | g.87610944_87610947del | CA1474383762 | DSPP | c.36_39del (p.Ala13GlyfsTer19) | dbSNP gnomAD v4 |
| 4 | g.87610945G>A | CA357601894 | DSPP | c.37G>A (p.Ala13Thr) | |
| 4 | g.87610945G>C | CA357601892 | DSPP | c.37G>C (p.Ala13Pro) | ClinVar dbSNP gnomAD v4 |
| 4 | g.87610945G>T | CA357601893 | DSPP | c.37G>T (p.Ala13Ser) | |
| 4 | g.87610946C>A | CA357601895 | DSPP | c.38C>A (p.Ala13Glu) | |
| 4 | g.87610946C>G | CA357601896 | DSPP | c.38C>G (p.Ala13Gly) | |
| 4 | g.87610946C>T | CA357601897 | DSPP | c.38C>T (p.Ala13Val) | |
| 4 | g.87610947A>C | CA440253924 | DSPP | c.39A>C (p.Ala13=) | |
| 4 | g.87610947A>G | CA440253925 | DSPP | c.39A>G (p.Ala13=) | |
| 4 | g.87610947A>T | CA440253926 | DSPP | c.39A>T (p.Ala13=) | gnomAD v4 |
| 4 | g.87610948T>A | CA357601898 | DSPP | c.40T>A (p.Trp14Arg) | |
| 4 | g.87610948T>C | CA357601899 | DSPP | c.40T>C (p.Trp14Arg) | |
| 4 | g.87610948T>G | CA357601900 | DSPP | c.40T>G (p.Trp14Gly) | dbSNP |
| 4 | g.87610948T= | CA1474383764 | DSPP | c.40T= (p.Trp14=) | |
| 4 | g.87610949G>A | CA357601901 | DSPP | c.41G>A (p.Trp14Ter) | |
| 4 | g.87610949G>C | CA357601903 | DSPP | c.41G>C (p.Trp14Ser) | |
| 4 | g.87610949G>T | CA357601902 | DSPP | c.41G>T (p.Trp14Leu) | |
| 4 | g.87610950_87610951del | CA2578139678 | DSPP | c.42_43del (p.Trp14CysfsTer?) | |
| 4 | g.87610950G>A | CA100848137 | DSPP | c.42G>A (p.Trp14Ter) | dbSNP |
| 4 | g.87610950G>C | CA357601904 | DSPP | c.42G>C (p.Trp14Cys) | |
| 4 | g.87610950G= | CA1474383765 | DSPP | c.42G= (p.Trp14=) | |
| 4 | g.87610950G>T | CA357601905 | DSPP | c.42G>T (p.Trp14Cys) | |
| 4 | g.87610951G>A | CA357601906 | DSPP | c.43G>A (p.Ala15Thr) | |
| 4 | g.87610951G>C | CA357601907 | DSPP | c.43G>C (p.Ala15Pro) | |
| 4 | g.87610951G>T | CA357601908 | DSPP | c.43G>T (p.Ala15Ser) | |
| 4 | g.87610952C>A | CA357601909 | DSPP | c.44C>A (p.Ala15Asp) | |
| 4 | g.87610952C= | CA1474383766 | DSPP | c.44C= (p.Ala15=) | |
| 4 | g.87610952C>G | CA357601910 | DSPP | c.44C>G (p.Ala15Gly) | |
| 4 | g.87610952C>T | CA126930 | DSPP | c.44C>T (p.Ala15Val) | ClinVar dbSNP |
| 4 | g.87610953C>A | CA440253927 | DSPP | c.45C>A (p.Ala15=) | |
| 4 | g.87610953C>G | CA440253928 | DSPP | c.45C>G (p.Ala15=) | |
| 4 | g.87610953C>T | CA440253929 | DSPP | c.45C>T (p.Ala15=) | |
| 4 | g.87610954A>C | CA357601911 | DSPP | c.46A>C (p.Ile16Leu) | |
| 4 | g.87610954A>G | CA357601912 | DSPP | c.46A>G (p.Ile16Val) | gnomAD v4 |
| 4 | g.87610954A>T | CA357601913 | DSPP | c.46A>T (p.Ile16Phe) | |
| 4 | g.87610955T>A | CA357601916 | DSPP | c.47T>A (p.Ile16Asn) | |
| 4 | g.87610955T>C | CA357601914 | DSPP | c.47T>C (p.Ile16Thr) | dbSNP |
| 4 | g.87610955T>G | CA357601915 | DSPP | c.47T>G (p.Ile16Ser) | |
| 4 | g.87610956T>A | CA440253930 | DSPP | c.48T>A (p.Ile16=) | |
| 4 | g.87610956T>C | CA440253931 | DSPP | c.48T>C (p.Ile16=) | |
| 4 | g.87610956T>G | CA357601917 | DSPP | c.48T>G (p.Ile16Met) | |
| 4 | g.87610957C>A | CA126926 | DSPP | c.49C>A (p.Pro17Thr) | ClinVar dbSNP COSMIC |
| 4 | g.87610957C= | CA1474383767 | DSPP | c.49C= (p.Pro17=) | |
| 4 | g.87610957C>G | CA357601918 | DSPP | c.49C>G (p.Pro17Ala) | |
| 4 | g.87610957C>T | CA357601919 | DSPP | c.49C>T (p.Pro17Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87610958C>A | CA357601920 | DSPP | c.50C>A (p.Pro17Gln) | |
| 4 | g.87610958C>G | CA357601921 | DSPP | c.50C>G (p.Pro17Arg) | |
| 4 | g.87610958C>T | CA357601922 | DSPP | c.50C>T (p.Pro17Leu) | ClinVar |
| 4 | g.87610959A>C | CA440253932 | DSPP | c.51A>C (p.Pro17=) | |
| 4 | g.87610959A>G | CA440253933 | DSPP | c.51A>G (p.Pro17=) | |
| 4 | g.87610959A>T | CA440253934 | DSPP | c.51A>T (p.Pro17=) | |
| 4 | g.87610960G>A | CA357601923 | DSPP | c.51+1G>A (n.51+1G>A) | |
| 4 | g.87610960G>C | CA357601924 | DSPP | c.51+1G>C (n.51+1G>C) | gnomAD v4 |
| 4 | g.87610960G>T | CA357601925 | DSPP | c.51+1G>T (n.51+1G>T) | |
| 4 | g.87610961T>A | CA357601926 | DSPP | c.51+2T>A (n.51+2T>A) | |
| 4 | g.87610961T>C | CA357601927 | DSPP | c.51+2T>C (n.51+2T>C) | |
| 4 | g.87610961T>G | CA357601928 | DSPP | c.51+2T>G (n.51+2T>G) | |
| 4 | g.87610963A= | CA1474383768 | DSPP | c.51+4A= (n.51+4A=) | |
| 4 | g.87610963A>C | CA3000797 | DSPP | c.51+4A>C (n.51+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610963A>T | CA2671358116 | DSPP | c.51+4A>T (n.51+4A>T) | gnomAD v4 |
| 4 | g.87610964G>A | CA3000798 | DSPP | c.51+5G>A (n.51+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610964G= | CA1474383769 | DSPP | c.51+5G= (n.51+5G=) | |
| 4 | g.87610965T>A | CA2671358117 | DSPP | c.51+6T>A (n.51+6T>A) | gnomAD v4 |
| 4 | g.87610965T>C | CA3000799 | DSPP | c.51+6T>C (n.51+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87610965T>G | CA2671358118 | DSPP | c.51+6T>G (n.51+6T>G) | dbSNP gnomAD v4 |
| 4 | g.87610965T= | CA1474383770 | DSPP | c.51+6T= (n.51+6T=) | |
| 4 | g.87610966A= | CA1474383771 | DSPP | c.51+7A= (n.51+7A=) | |
| 4 | g.87610966A>G | CA3000800 | DSPP | c.51+7A>G (n.51+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87610967T>C | CA2671358119 | DSPP | c.51+8T>C (n.51+8T>C) | gnomAD v4 |