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 |
|---|---|---|---|---|---|
| 10 | g.104034602_104034615dup | CA2610796604 | COL17A1 | c.3520+12_3520+25dup (n.3520+12_3520+25dup) c.3766+12_3766+25dup (n.3766+12_3766+25dup) | gnomAD v4 |
| 10 | g.104034611G>A | CA2610796610 | COL17A1 | c.3520+10C>T (n.3520+10C>T) c.3766+10C>T (n.3766+10C>T) | gnomAD v4 |
| 10 | g.104034611G>T | CA2610796611 | COL17A1 | c.3520+10C>A (n.3520+10C>A) c.3766+10C>A (n.3766+10C>A) | gnomAD v4 |
| 10 | g.104034612G>A | CA5677838 | COL17A1 | c.3520+9C>T (n.3520+9C>T) c.3766+9C>T (n.3766+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034612G= | CA1933418709 | COL17A1 | c.3520+9C= (n.3520+9C=) c.3766+9C= (n.3766+9C=) | |
| 10 | g.104034612G>T | CA212455783 | COL17A1 | c.3520+9C>A (n.3520+9C>A) c.3766+9C>A (n.3766+9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034613G>A | CA5677839 | COL17A1 | c.3520+8C>T (n.3520+8C>T) c.3766+8C>T (n.3766+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034613G= | CA1933418710 | COL17A1 | c.3520+8C= (n.3520+8C=) c.3766+8C= (n.3766+8C=) | |
| 10 | g.104034613G>T | CA659194609 | COL17A1 | c.3520+8C>A (n.3520+8C>A) c.3766+8C>A (n.3766+8C>A) | dbSNP |
| 10 | g.104034614C>A | CA2610796612 | COL17A1 | c.3520+7G>T (n.3520+7G>T) c.3766+7G>T (n.3766+7G>T) | gnomAD v4 |
| 10 | g.104034614C= | CA1933418711 | COL17A1 | c.3520+7G= (n.3520+7G=) c.3766+7G= (n.3766+7G=) | |
| 10 | g.104034614C>T | CA5677840 | COL17A1 | c.3520+7G>A (n.3520+7G>A) c.3766+7G>A (n.3766+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034615A= | CA1933418712 | COL17A1 | c.3520+6T= (n.3520+6T=) c.3766+6T= (n.3766+6T=) | |
| 10 | g.104034615A>G | CA596111258 | COL17A1 | c.3520+6T>C (n.3520+6T>C) c.3766+6T>C (n.3766+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034616C= | CA1933418713 | COL17A1 | c.3520+5G= (n.3520+5G=) c.3766+5G= (n.3766+5G=) | |
| 10 | g.104034616C>G | CA2610796613 | COL17A1 | c.3520+5G>C (n.3520+5G>C) c.3766+5G>C (n.3766+5G>C) | gnomAD v4 |
| 10 | g.104034616C>T | CA1933418714 | COL17A1 | c.3520+5G>A (n.3520+5G>A) c.3766+5G>A (n.3766+5G>A) | dbSNP gnomAD v4 |
| 10 | g.104034616_104034617insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT | CA2789320514 | COL17A1 | c.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT (n.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT) c.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT (n.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT) | |
| 10 | g.104034617C>A | CA2610796614 | COL17A1 | c.3520+4G>T (n.3520+4G>T) c.3766+4G>T (n.3766+4G>T) | gnomAD v4 |
| 10 | g.104034617C>G | CA2574660685 | COL17A1 | c.3520+4G>C (n.3520+4G>C) c.3766+4G>C (n.3766+4G>C) | |
| 10 | g.104034619A= | CA1933418715 | COL17A1 | c.3520+2T= (n.3520+2T=) c.3766+2T= (n.3766+2T=) | |
| 10 | g.104034619A>C | CA378065892 | COL17A1 | c.3520+2T>G (n.3520+2T>G) c.3766+2T>G (n.3766+2T>G) | |
| 10 | g.104034619A>G | CA378065893 | COL17A1 | c.3520+2T>C (n.3520+2T>C) c.3766+2T>C (n.3766+2T>C) | dbSNP gnomAD v2 |
| 10 | g.104034619A>T | CA378065894 | COL17A1 | c.3520+2T>A (n.3520+2T>A) c.3766+2T>A (n.3766+2T>A) | |
| 10 | g.104034620C>A | CA378065895 | COL17A1 | c.3520+1G>T (n.3520+1G>T) c.3766+1G>T (n.3766+1G>T) | |
| 10 | g.104034620C= | CA1933418716 | COL17A1 | c.3520+1G= (n.3520+1G=) c.3766+1G= (n.3766+1G=) | |
| 10 | g.104034620C>G | CA378065896 | COL17A1 | c.3520+1G>C (n.3520+1G>C) c.3766+1G>C (n.3766+1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034620C>T | CA378065897 | COL17A1 | c.3520+1G>A (n.3520+1G>A) c.3766+1G>A (n.3766+1G>A) | ClinVar dbSNP |
| 10 | g.104034621T>A | CA378065898 | COL17A1 | c.3520A>T (p.Ser1174Cys) c.3766A>T (p.Ser1256Cys) | |
| 10 | g.104034621T>C | CA378065899 | COL17A1 | c.3520A>G (p.Ser1174Gly) c.3766A>G (p.Ser1256Gly) | gnomAD v4 |
| 10 | g.104034621T>G | CA378065900 | COL17A1 | c.3520A>C (p.Ser1174Arg) c.3766A>C (p.Ser1256Arg) | |
| 10 | g.104034622T>A | CA471341865 | COL17A1 | c.3519A>T (p.Thr1173=) c.3765A>T (p.Thr1255=) | |
| 10 | g.104034622T>C | CA471341868 | COL17A1 | c.3519A>G (p.Thr1173=) c.3765A>G (p.Thr1255=) | |
| 10 | g.104034622T>G | CA471341866 | COL17A1 | c.3519A>C (p.Thr1173=) c.3765A>C (p.Thr1255=) | |
| 10 | g.104034623G>A | CA378065901 | COL17A1 | c.3518C>T (p.Thr1173Ile) c.3764C>T (p.Thr1255Ile) | |
| 10 | g.104034623G>C | CA378065902 | COL17A1 | c.3518C>G (p.Thr1173Arg) c.3764C>G (p.Thr1255Arg) | |
| 10 | g.104034623G>T | CA378065903 | COL17A1 | c.3518C>A (p.Thr1173Lys) c.3764C>A (p.Thr1255Lys) | gnomAD v4 |
| 10 | g.104034624T>A | CA378065906 | COL17A1 | c.3517A>T (p.Thr1173Ser) c.3763A>T (p.Thr1255Ser) | |
| 10 | g.104034624T>C | CA378065904 | COL17A1 | c.3517A>G (p.Thr1173Ala) c.3763A>G (p.Thr1255Ala) | |
| 10 | g.104034624T>G | CA378065905 | COL17A1 | c.3517A>C (p.Thr1173Pro) c.3763A>C (p.Thr1255Pro) | |
| 10 | g.104034625G>A | CA471341870 | COL17A1 | c.3516C>T (p.Leu1172=) c.3762C>T (p.Leu1254=) | gnomAD v4 |
| 10 | g.104034625G>C | CA471341871 | COL17A1 | c.3516C>G (p.Leu1172=) c.3762C>G (p.Leu1254=) | |
| 10 | g.104034625G>T | CA471341872 | COL17A1 | c.3516C>A (p.Leu1172=) c.3762C>A (p.Leu1254=) | gnomAD v4 |
| 10 | g.104034626A>C | CA378065907 | COL17A1 | c.3515T>G (p.Leu1172Arg) c.3761T>G (p.Leu1254Arg) | |
| 10 | g.104034626A>G | CA378065908 | COL17A1 | c.3515T>C (p.Leu1172Pro) c.3761T>C (p.Leu1254Pro) | |
| 10 | g.104034626A>T | CA378065909 | COL17A1 | c.3515T>A (p.Leu1172His) c.3761T>A (p.Leu1254His) | |
| 10 | g.104034627G>A | CA378065910 | COL17A1 | c.3514C>T (p.Leu1172Phe) c.3760C>T (p.Leu1254Phe) | COSMIC |
| 10 | g.104034627G>C | CA378065911 | COL17A1 | c.3514C>G (p.Leu1172Val) c.3760C>G (p.Leu1254Val) | |
| 10 | g.104034627G>T | CA378065912 | COL17A1 | c.3514C>A (p.Leu1172Ile) c.3760C>A (p.Leu1254Ile) | gnomAD v4 |
| 10 | g.104034628G>A | CA471341875 | COL17A1 | c.3513C>T (p.Tyr1171=) c.3759C>T (p.Tyr1253=) | dbSNP gnomAD v2 |
| 10 | g.104034628G>C | CA378065913 | COL17A1 | c.3513C>G (p.Tyr1171Ter) c.3759C>G (p.Tyr1253Ter) | |
| 10 | g.104034628G= | CA1933418717 | COL17A1 | c.3513C= (p.Tyr1171=) c.3759C= (p.Tyr1253=) | |
| 10 | g.104034628G>T | CA378065914 | COL17A1 | c.3513C>A (p.Tyr1171Ter) c.3759C>A (p.Tyr1253Ter) | gnomAD v4 |
| 10 | g.104034629T>A | CA378065915 | COL17A1 | c.3512A>T (p.Tyr1171Phe) c.3758A>T (p.Tyr1253Phe) | |
| 10 | g.104034629T>C | CA5677841 | COL17A1 | c.3512A>G (p.Tyr1171Cys) c.3758A>G (p.Tyr1253Cys) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034629T>G | CA378065916 | COL17A1 | c.3512A>C (p.Tyr1171Ser) c.3758A>C (p.Tyr1253Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034629T= | CA1933418718 | COL17A1 | c.3512A= (p.Tyr1171=) c.3758A= (p.Tyr1253=) | |
| 10 | g.104034630A= | CA1933418719 | COL17A1 | c.3511T= (p.Tyr1171=) c.3757T= (p.Tyr1253=) | |
| 10 | g.104034630A>C | CA378065918 | COL17A1 | c.3511T>G (p.Tyr1171Asp) c.3757T>G (p.Tyr1253Asp) | |
| 10 | g.104034630A>G | CA378065919 | COL17A1 | c.3511T>C (p.Tyr1171His) c.3757T>C (p.Tyr1253His) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034630A>T | CA378065917 | COL17A1 | c.3511T>A (p.Tyr1171Asn) c.3757T>A (p.Tyr1253Asn) | |
| 10 | g.104034631G>A | CA471341877 | COL17A1 | c.3510C>T (p.Ser1170=) c.3756C>T (p.Ser1252=) | |
| 10 | g.104034631G>C | CA378065920 | COL17A1 | c.3510C>G (p.Ser1170Arg) c.3756C>G (p.Ser1252Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034631G= | CA1933418720 | COL17A1 | c.3510C= (p.Ser1170=) c.3756C= (p.Ser1252=) | |
| 10 | g.104034631G>T | CA378065921 | COL17A1 | c.3510C>A (p.Ser1170Arg) c.3756C>A (p.Ser1252Arg) | gnomAD v4 |
| 10 | g.104034632C>A | CA378065922 | COL17A1 | c.3509G>T (p.Ser1170Ile) c.3755G>T (p.Ser1252Ile) | |
| 10 | g.104034632C>G | CA378065923 | COL17A1 | c.3509G>C (p.Ser1170Thr) c.3755G>C (p.Ser1252Thr) | |
| 10 | g.104034632C>T | CA378065924 | COL17A1 | c.3509G>A (p.Ser1170Asn) c.3755G>A (p.Ser1252Asn) | gnomAD v4 |
| 10 | g.104034633T>A | CA378065925 | COL17A1 | c.3508A>T (p.Ser1170Cys) c.3754A>T (p.Ser1252Cys) | |
| 10 | g.104034633T>C | CA378065926 | COL17A1 | c.3508A>G (p.Ser1170Gly) c.3754A>G (p.Ser1252Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034633T>G | CA378065927 | COL17A1 | c.3508A>C (p.Ser1170Arg) c.3754A>C (p.Ser1252Arg) | |
| 10 | g.104034633T= | CA1933418721 | COL17A1 | c.3508A= (p.Ser1170=) c.3754A= (p.Ser1252=) | |
| 10 | g.104034634G>A | CA471341879 | COL17A1 | c.3507C>T (p.Ile1169=) c.3753C>T (p.Ile1251=) | dbSNP |
| 10 | g.104034634G>C | CA378065928 | COL17A1 | c.3507C>G (p.Ile1169Met) c.3753C>G (p.Ile1251Met) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034634G= | CA1933418722 | COL17A1 | c.3507C= (p.Ile1169=) c.3753C= (p.Ile1251=) | |
| 10 | g.104034634G>T | CA471341880 | COL17A1 | c.3507C>A (p.Ile1169=) c.3753C>A (p.Ile1251=) | gnomAD v4 |
| 10 | g.104034635A>C | CA378065929 | COL17A1 | c.3506T>G (p.Ile1169Ser) c.3752T>G (p.Ile1251Ser) | |
| 10 | g.104034635A>G | CA378065930 | COL17A1 | c.3506T>C (p.Ile1169Thr) c.3752T>C (p.Ile1251Thr) | ClinVar |
| 10 | g.104034635A>T | CA378065931 | COL17A1 | c.3506T>A (p.Ile1169Asn) c.3752T>A (p.Ile1251Asn) | |
| 10 | g.104034636T>A | CA378065933 | COL17A1 | c.3505A>T (p.Ile1169Phe) c.3751A>T (p.Ile1251Phe) | gnomAD v4 |
| 10 | g.104034636T>C | CA378065934 | COL17A1 | c.3505A>G (p.Ile1169Val) c.3751A>G (p.Ile1251Val) | |
| 10 | g.104034636T>G | CA378065932 | COL17A1 | c.3505A>C (p.Ile1169Leu) c.3751A>C (p.Ile1251Leu) | |
| 10 | g.104034637C>A | CA471341885 | COL17A1 | c.3504G>T (p.Leu1168=) c.3750G>T (p.Leu1250=) | gnomAD v4 |
| 10 | g.104034637C= | CA1933418723 | COL17A1 | c.3504G= (p.Leu1168=) c.3750G= (p.Leu1250=) | |
| 10 | g.104034637C>G | CA471341883 | COL17A1 | c.3504G>C (p.Leu1168=) c.3750G>C (p.Leu1250=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034637C>T | CA471341884 | COL17A1 | c.3504G>A (p.Leu1168=) c.3750G>A (p.Leu1250=) | gnomAD v4 |
| 10 | g.104034638A= | CA1933418724 | COL17A1 | c.3503T= (p.Leu1168=) c.3749T= (p.Leu1250=) | |
| 10 | g.104034638A>C | CA378065935 | COL17A1 | c.3503T>G (p.Leu1168Arg) c.3749T>G (p.Leu1250Arg) | |
| 10 | g.104034638A>G | CA5677842 | COL17A1 | c.3503T>C (p.Leu1168Pro) c.3749T>C (p.Leu1250Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034638A>T | CA378065936 | COL17A1 | c.3503T>A (p.Leu1168Gln) c.3749T>A (p.Leu1250Gln) | |
| 10 | g.104034639G>A | CA471341886 | COL17A1 | c.3502C>T (p.Leu1168=) c.3748C>T (p.Leu1250=) | |
| 10 | g.104034639G>C | CA378065937 | COL17A1 | c.3502C>G (p.Leu1168Val) c.3748C>G (p.Leu1250Val) | |
| 10 | g.104034639G= | CA1933418725 | COL17A1 | c.3502C= (p.Leu1168=) c.3748C= (p.Leu1250=) | |
| 10 | g.104034639G>T | CA378065938 | COL17A1 | c.3502C>A (p.Leu1168Met) c.3748C>A (p.Leu1250Met) | dbSNP gnomAD v4 |
| 10 | g.104034640C>A | CA378065939 | COL17A1 | c.3501G>T (p.Glu1167Asp) c.3747G>T (p.Glu1249Asp) | gnomAD v4 |
| 10 | g.104034640C= | CA1933418726 | COL17A1 | c.3501G= (p.Glu1167=) c.3747G= (p.Glu1249=) | |
| 10 | g.104034640C>G | CA5677843 | COL17A1 | c.3501G>C (p.Glu1167Asp) c.3747G>C (p.Glu1249Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034640C>T | CA471341889 | COL17A1 | c.3501G>A (p.Glu1167=) c.3747G>A (p.Glu1249=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034641T>A | CA378065940 | COL17A1 | c.3500A>T (p.Glu1167Val) c.3746A>T (p.Glu1249Val) | |
| 10 | g.104034641T>C | CA5677844 | COL17A1 | c.3500A>G (p.Glu1167Gly) c.3746A>G (p.Glu1249Gly) | dbSNP ExAC gnomAD v4 |
| 10 | g.104034641T>G | CA378065941 | COL17A1 | c.3500A>C (p.Glu1167Ala) c.3746A>C (p.Glu1249Ala) | |
| 10 | g.104034641T= | CA1933418727 | COL17A1 | c.3500A= (p.Glu1167=) c.3746A= (p.Glu1249=) | |
| 10 | g.104034642C>A | CA378065942 | COL17A1 | c.3499G>T (p.Glu1167Ter) c.3745G>T (p.Glu1249Ter) | gnomAD v4 |
| 10 | g.104034642C= | CA1933418728 | COL17A1 | c.3499G= (p.Glu1167=) c.3745G= (p.Glu1249=) | |
| 10 | g.104034642C>G | CA378065943 | COL17A1 | c.3499G>C (p.Glu1167Gln) c.3745G>C (p.Glu1249Gln) | |
| 10 | g.104034642C>T | CA378065944 | COL17A1 | c.3499G>A (p.Glu1167Lys) c.3745G>A (p.Glu1249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034643G>A | CA5677845 | COL17A1 | c.3498C>T (p.Ser1166=) c.3744C>T (p.Ser1248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034643G>C | CA378065946 | COL17A1 | c.3498C>G (p.Ser1166Arg) c.3744C>G (p.Ser1248Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034643G= | CA1933418729 | COL17A1 | c.3498C= (p.Ser1166=) c.3744C= (p.Ser1248=) | |
| 10 | g.104034643G>T | CA378065945 | COL17A1 | c.3498C>A (p.Ser1166Arg) c.3744C>A (p.Ser1248Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034644C>A | CA378065947 | COL17A1 | c.3497G>T (p.Ser1166Ile) c.3743G>T (p.Ser1248Ile) | |
| 10 | g.104034644C>G | CA378065949 | COL17A1 | c.3497G>C (p.Ser1166Thr) c.3743G>C (p.Ser1248Thr) | |
| 10 | g.104034644C>T | CA378065948 | COL17A1 | c.3497G>A (p.Ser1166Asn) c.3743G>A (p.Ser1248Asn) | |
| 10 | g.104034645T>A | CA378065950 | COL17A1 | c.3496A>T (p.Ser1166Cys) c.3742A>T (p.Ser1248Cys) | |
| 10 | g.104034645T>C | CA378065951 | COL17A1 | c.3496A>G (p.Ser1166Gly) c.3742A>G (p.Ser1248Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034645T>G | CA378065952 | COL17A1 | c.3496A>C (p.Ser1166Arg) c.3742A>C (p.Ser1248Arg) | |
| 10 | g.104034645T= | CA1933418730 | COL17A1 | c.3496A= (p.Ser1166=) c.3742A= (p.Ser1248=) | |
| 10 | g.104034646C>A | CA471341894 | COL17A1 | c.3495G>T (p.Arg1165=) c.3741G>T (p.Arg1247=) | |
| 10 | g.104034646C>G | CA471341895 | COL17A1 | c.3495G>C (p.Arg1165=) c.3741G>C (p.Arg1247=) | |
| 10 | g.104034646C>T | CA471341892 | COL17A1 | c.3495G>A (p.Arg1165=) c.3741G>A (p.Arg1247=) | ClinVar |
| 10 | g.104034647C>A | CA378065953 | COL17A1 | c.3494G>T (p.Arg1165Leu) c.3740G>T (p.Arg1247Leu) | |
| 10 | g.104034647C= | CA1933418731 | COL17A1 | c.3494G= (p.Arg1165=) c.3740G= (p.Arg1247=) | |
| 10 | g.104034647C>G | CA378065954 | COL17A1 | c.3494G>C (p.Arg1165Pro) c.3740G>C (p.Arg1247Pro) | |
| 10 | g.104034647C>T | CA5677846 | COL17A1 | c.3494G>A (p.Arg1165Gln) c.3740G>A (p.Arg1247Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034648G>A | CA5677847 | COL17A1 | c.3493C>T (p.Arg1165Trp) c.3739C>T (p.Arg1247Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034648G>C | CA378065955 | COL17A1 | c.3493C>G (p.Arg1165Gly) c.3739C>G (p.Arg1247Gly) | dbSNP gnomAD v4 |
| 10 | g.104034648G= | CA1933418732 | COL17A1 | c.3493C= (p.Arg1165=) c.3739C= (p.Arg1247=) | |
| 10 | g.104034648G>T | CA471341896 | COL17A1 | c.3493C>A (p.Arg1165=) c.3739C>A (p.Arg1247=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034649G>A | CA471341897 | COL17A1 | c.3492C>T (p.Phe1164=) c.3738C>T (p.Phe1246=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034649G>C | CA378065956 | COL17A1 | c.3492C>G (p.Phe1164Leu) c.3738C>G (p.Phe1246Leu) | |
| 10 | g.104034649G= | CA1933418733 | COL17A1 | c.3492C= (p.Phe1164=) c.3738C= (p.Phe1246=) | |
| 10 | g.104034649G>T | CA378065957 | COL17A1 | c.3492C>A (p.Phe1164Leu) c.3738C>A (p.Phe1246Leu) | |
| 10 | g.104034650A>C | CA378065958 | COL17A1 | c.3491T>G (p.Phe1164Cys) c.3737T>G (p.Phe1246Cys) | gnomAD v4 |
| 10 | g.104034650A>G | CA378065959 | COL17A1 | c.3491T>C (p.Phe1164Ser) c.3737T>C (p.Phe1246Ser) | |
| 10 | g.104034650A>T | CA378065960 | COL17A1 | c.3491T>A (p.Phe1164Tyr) c.3737T>A (p.Phe1246Tyr) | |
| 10 | g.104034651A>C | CA378065961 | COL17A1 | c.3490T>G (p.Phe1164Val) c.3736T>G (p.Phe1246Val) | COSMIC |
| 10 | g.104034651A>G | CA378065963 | COL17A1 | c.3490T>C (p.Phe1164Leu) c.3736T>C (p.Phe1246Leu) | |
| 10 | g.104034651A>T | CA378065962 | COL17A1 | c.3490T>A (p.Phe1164Ile) c.3736T>A (p.Phe1246Ile) | |
| 10 | g.104034652G>A | CA471341900 | COL17A1 | c.3489C>T (p.Ser1163=) c.3735C>T (p.Ser1245=) | gnomAD v4 |
| 10 | g.104034652G>C | CA5677848 | COL17A1 | c.3489C>G (p.Ser1163Arg) c.3735C>G (p.Ser1245Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034652G= | CA1933418734 | COL17A1 | c.3489C= (p.Ser1163=) c.3735C= (p.Ser1245=) | |
| 10 | g.104034652G>T | CA378065964 | COL17A1 | c.3489C>A (p.Ser1163Arg) c.3735C>A (p.Ser1245Arg) | |
| 10 | g.104034653C>A | CA378065965 | COL17A1 | c.3488G>T (p.Ser1163Ile) c.3734G>T (p.Ser1245Ile) | |
| 10 | g.104034653C= | CA1933418735 | COL17A1 | c.3488G= (p.Ser1163=) c.3734G= (p.Ser1245=) | |
| 10 | g.104034653C>G | CA378065966 | COL17A1 | c.3488G>C (p.Ser1163Thr) c.3734G>C (p.Ser1245Thr) | |
| 10 | g.104034653C>T | CA378065967 | COL17A1 | c.3488G>A (p.Ser1163Asn) c.3734G>A (p.Ser1245Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034654T>A | CA378065968 | COL17A1 | c.3487A>T (p.Ser1163Cys) c.3733A>T (p.Ser1245Cys) | |
| 10 | g.104034654T>C | CA378065969 | COL17A1 | c.3487A>G (p.Ser1163Gly) c.3733A>G (p.Ser1245Gly) | |
| 10 | g.104034654T>G | CA378065970 | COL17A1 | c.3487A>C (p.Ser1163Arg) c.3733A>C (p.Ser1245Arg) | |
| 10 | g.104034655G>A | CA471341902 | COL17A1 | c.3486C>T (p.Asp1162=) c.3732C>T (p.Asp1244=) | gnomAD v4 |
| 10 | g.104034655G>C | CA378065971 | COL17A1 | c.3486C>G (p.Asp1162Glu) c.3732C>G (p.Asp1244Glu) | |
| 10 | g.104034655G>T | CA378065972 | COL17A1 | c.3486C>A (p.Asp1162Glu) c.3732C>A (p.Asp1244Glu) | |
| 10 | g.104034656T>A | CA378065975 | COL17A1 | c.3485A>T (p.Asp1162Val) c.3731A>T (p.Asp1244Val) | |
| 10 | g.104034656T>C | CA378065974 | COL17A1 | c.3485A>G (p.Asp1162Gly) c.3731A>G (p.Asp1244Gly) | |
| 10 | g.104034656T>G | CA378065973 | COL17A1 | c.3485A>C (p.Asp1162Ala) c.3731A>C (p.Asp1244Ala) | |
| 10 | g.104034657C>A | CA378065976 | COL17A1 | c.3484G>T (p.Asp1162Tyr) c.3730G>T (p.Asp1244Tyr) | gnomAD v4 |
| 10 | g.104034657C= | CA1933418736 | COL17A1 | c.3484G= (p.Asp1162=) c.3730G= (p.Asp1244=) | |
| 10 | g.104034657C>G | CA378065977 | COL17A1 | c.3484G>C (p.Asp1162His) c.3730G>C (p.Asp1244His) | dbSNP gnomAD v4 |
| 10 | g.104034657C>T | CA5677849 | COL17A1 | c.3484G>A (p.Asp1162Asn) c.3730G>A (p.Asp1244Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034658G>A | CA5677850 | COL17A1 | c.3483C>T (p.Ser1161=) c.3729C>T (p.Ser1243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034658G>C | CA378065978 | COL17A1 | c.3483C>G (p.Ser1161Arg) c.3729C>G (p.Ser1243Arg) | |
| 10 | g.104034658G= | CA1933418737 | COL17A1 | c.3483C= (p.Ser1161=) c.3729C= (p.Ser1243=) | |
| 10 | g.104034658G>T | CA378065979 | COL17A1 | c.3483C>A (p.Ser1161Arg) c.3729C>A (p.Ser1243Arg) | gnomAD v4 |
| 10 | g.104034659C>A | CA378065982 | COL17A1 | c.3482G>T (p.Ser1161Ile) c.3728G>T (p.Ser1243Ile) | |
| 10 | g.104034659C>G | CA378065980 | COL17A1 | c.3482G>C (p.Ser1161Thr) c.3728G>C (p.Ser1243Thr) | |
| 10 | g.104034659C>T | CA378065981 | COL17A1 | c.3482G>A (p.Ser1161Asn) c.3728G>A (p.Ser1243Asn) | |
| 10 | g.104034660T>A | CA378065983 | COL17A1 | c.3481A>T (p.Ser1161Cys) c.3727A>T (p.Ser1243Cys) | |
| 10 | g.104034660T>C | CA378065984 | COL17A1 | c.3481A>G (p.Ser1161Gly) c.3727A>G (p.Ser1243Gly) | |
| 10 | g.104034660T>G | CA378065985 | COL17A1 | c.3481A>C (p.Ser1161Arg) c.3727A>C (p.Ser1243Arg) | |
| 10 | g.104034661G>A | CA471341905 | COL17A1 | c.3480C>T (p.Asn1160=) c.3726C>T (p.Asn1242=) | dbSNP gnomAD v4 |
| 10 | g.104034661G>C | CA378065986 | COL17A1 | c.3480C>G (p.Asn1160Lys) c.3726C>G (p.Asn1242Lys) | |
| 10 | g.104034661G= | CA1933418738 | COL17A1 | c.3480C= (p.Asn1160=) c.3726C= (p.Asn1242=) | |
| 10 | g.104034661G>T | CA378065987 | COL17A1 | c.3480C>A (p.Asn1160Lys) c.3726C>A (p.Asn1242Lys) | |
| 10 | g.104034662T>A | CA378065988 | COL17A1 | c.3479A>T (p.Asn1160Ile) c.3725A>T (p.Asn1242Ile) | |
| 10 | g.104034662T>C | CA378065990 | COL17A1 | c.3479A>G (p.Asn1160Ser) c.3725A>G (p.Asn1242Ser) | gnomAD v4 |
| 10 | g.104034662T>G | CA378065989 | COL17A1 | c.3479A>C (p.Asn1160Thr) c.3725A>C (p.Asn1242Thr) | |
| 10 | g.104034665del | CA471341907 | COL17A1 | c.3479del (p.Asn1160ThrfsTer9) c.3725del (p.Asn1242ThrfsTer9) | COSMIC |
| 10 | g.104034663T>A | CA378065991 | COL17A1 | c.3478A>T (p.Asn1160Tyr) c.3724A>T (p.Asn1242Tyr) | |
| 10 | g.104034663T>C | CA378065992 | COL17A1 | c.3478A>G (p.Asn1160Asp) c.3724A>G (p.Asn1242Asp) | |
| 10 | g.104034663T>G | CA378065993 | COL17A1 | c.3478A>C (p.Asn1160His) c.3724A>C (p.Asn1242His) | |
| 10 | g.104034664T>A | CA378065994 | COL17A1 | c.3477A>T (p.Glu1159Asp) c.3723A>T (p.Glu1241Asp) | |
| 10 | g.104034664T>C | CA471341908 | COL17A1 | c.3477A>G (p.Glu1159=) c.3723A>G (p.Glu1241=) | ClinVar |
| 10 | g.104034664T>G | CA378065995 | COL17A1 | c.3477A>C (p.Glu1159Asp) c.3723A>C (p.Glu1241Asp) | |
| 10 | g.104034665T>A | CA378065996 | COL17A1 | c.3476A>T (p.Glu1159Val) c.3722A>T (p.Glu1241Val) | |
| 10 | g.104034665T>C | CA5677851 | COL17A1 | c.3476A>G (p.Glu1159Gly) c.3722A>G (p.Glu1241Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034665T>G | CA378065997 | COL17A1 | c.3476A>C (p.Glu1159Ala) c.3722A>C (p.Glu1241Ala) | dbSNP |
| 10 | g.104034665T= | CA1933418739 | COL17A1 | c.3476A= (p.Glu1159=) c.3722A= (p.Glu1241=) | |
| 10 | g.104034666C>A | CA378065998 | COL17A1 | c.3475G>T (p.Glu1159Ter) c.3721G>T (p.Glu1241Ter) | |
| 10 | g.104034666C>G | CA378065999 | COL17A1 | c.3475G>C (p.Glu1159Gln) c.3721G>C (p.Glu1241Gln) | |
| 10 | g.104034666C>T | CA378066000 | COL17A1 | c.3475G>A (p.Glu1159Lys) c.3721G>A (p.Glu1241Lys) | gnomAD v4 |
| 10 | g.104034666_104034669del | CA2722590598 | COL17A1 | c.3472_3475del (p.Ala1158LysfsTer10) c.3718_3721del (p.Ala1240LysfsTer10) | dbSNP |
| 10 | g.104034667A= | CA1933418740 | COL17A1 | c.3474T= (p.Ala1158=) c.3720T= (p.Ala1240=) | |
| 10 | g.104034667A>C | CA471341914 | COL17A1 | c.3474T>G (p.Ala1158=) c.3720T>G (p.Ala1240=) | |
| 10 | g.104034667A>G | CA471341913 | COL17A1 | c.3474T>C (p.Ala1158=) c.3720T>C (p.Ala1240=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034667A>T | CA471341912 | COL17A1 | c.3474T>A (p.Ala1158=) c.3720T>A (p.Ala1240=) | |
| 10 | g.104034668G>A | CA378066003 | COL17A1 | c.3473C>T (p.Ala1158Val) c.3719C>T (p.Ala1240Val) | |
| 10 | g.104034668G>C | CA378066002 | COL17A1 | c.3473C>G (p.Ala1158Gly) c.3719C>G (p.Ala1240Gly) | |
| 10 | g.104034668G>T | CA378066001 | COL17A1 | c.3473C>A (p.Ala1158Asp) c.3719C>A (p.Ala1240Asp) | dbSNP gnomAD v4 |
| 10 | g.104034669C>A | CA378066004 | COL17A1 | c.3472G>T (p.Ala1158Ser) c.3718G>T (p.Ala1240Ser) | |
| 10 | g.104034669C= | CA1933418741 | COL17A1 | c.3472G= (p.Ala1158=) c.3718G= (p.Ala1240=) | |
| 10 | g.104034669C>G | CA378066005 | COL17A1 | c.3472G>C (p.Ala1158Pro) c.3718G>C (p.Ala1240Pro) | gnomAD v4 |
| 10 | g.104034669C>T | CA5677852 | COL17A1 | c.3472G>A (p.Ala1158Thr) c.3718G>A (p.Ala1240Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034670T>A | CA471341918 | COL17A1 | c.3471A>T (p.Ala1157=) c.3717A>T (p.Ala1239=) | |
| 10 | g.104034670T>C | CA471341917 | COL17A1 | c.3471A>G (p.Ala1157=) c.3717A>G (p.Ala1239=) | gnomAD v4 |
| 10 | g.104034670T>G | CA471341916 | COL17A1 | c.3471A>C (p.Ala1157=) c.3717A>C (p.Ala1239=) | |
| 10 | g.104034671G>A | CA378066006 | COL17A1 | c.3470C>T (p.Ala1157Val) c.3716C>T (p.Ala1239Val) | gnomAD v4 |
| 10 | g.104034671G>C | CA378066008 | COL17A1 | c.3470C>G (p.Ala1157Gly) c.3716C>G (p.Ala1239Gly) | |
| 10 | g.104034671G>T | CA378066007 | COL17A1 | c.3470C>A (p.Ala1157Glu) c.3716C>A (p.Ala1239Glu) | |
| 10 | g.104034672C>A | CA378066009 | COL17A1 | c.3469G>T (p.Ala1157Ser) c.3715G>T (p.Ala1239Ser) | |
| 10 | g.104034672C= | CA1933418742 | COL17A1 | c.3469G= (p.Ala1157=) c.3715G= (p.Ala1239=) | |
| 10 | g.104034672C>G | CA378066010 | COL17A1 | c.3469G>C (p.Ala1157Pro) c.3715G>C (p.Ala1239Pro) | |
| 10 | g.104034672C>T | CA212455819 | COL17A1 | c.3469G>A (p.Ala1157Thr) c.3715G>A (p.Ala1239Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034673A= | CA1933418743 | COL17A1 | c.3468T= (p.Tyr1156=) c.3714T= (p.Tyr1238=) | |
| 10 | g.104034673A>C | CA378066011 | COL17A1 | c.3468T>G (p.Tyr1156Ter) c.3714T>G (p.Tyr1238Ter) | gnomAD v4 |
| 10 | g.104034673A>G | CA5677853 | COL17A1 | c.3468T>C (p.Tyr1156=) c.3714T>C (p.Tyr1238=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034673A>T | CA378066012 | COL17A1 | c.3468T>A (p.Tyr1156Ter) c.3714T>A (p.Tyr1238Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034674T>A | CA378066013 | COL17A1 | c.3467A>T (p.Tyr1156Phe) c.3713A>T (p.Tyr1238Phe) | |
| 10 | g.104034674T>C | CA378066014 | COL17A1 | c.3467A>G (p.Tyr1156Cys) c.3713A>G (p.Tyr1238Cys) | |
| 10 | g.104034674T>G | CA378066015 | COL17A1 | c.3467A>C (p.Tyr1156Ser) c.3713A>C (p.Tyr1238Ser) | |
| 10 | g.104034675A>C | CA378066016 | COL17A1 | c.3466T>G (p.Tyr1156Asp) c.3712T>G (p.Tyr1238Asp) | |
| 10 | g.104034675A>G | CA378066017 | COL17A1 | c.3466T>C (p.Tyr1156His) c.3712T>C (p.Tyr1238His) | |
| 10 | g.104034675A>T | CA378066018 | COL17A1 | c.3466T>A (p.Tyr1156Asn) c.3712T>A (p.Tyr1238Asn) | |
| 10 | g.104034676G>A | CA471341922 | COL17A1 | c.3465C>T (p.Thr1155=) c.3711C>T (p.Thr1237=) | |
| 10 | g.104034676G>C | CA471341923 | COL17A1 | c.3465C>G (p.Thr1155=) c.3711C>G (p.Thr1237=) | |
| 10 | g.104034676G>T | CA471341924 | COL17A1 | c.3465C>A (p.Thr1155=) c.3711C>A (p.Thr1237=) | |
| 10 | g.104034677G>A | CA378066019 | COL17A1 | c.3464C>T (p.Thr1155Ile) c.3710C>T (p.Thr1237Ile) | gnomAD v4 |
| 10 | g.104034677G>C | CA5677854 | COL17A1 | c.3464C>G (p.Thr1155Ser) c.3710C>G (p.Thr1237Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034677G= | CA1933418744 | COL17A1 | c.3464C= (p.Thr1155=) c.3710C= (p.Thr1237=) | |
| 10 | g.104034677G>T | CA5677855 | COL17A1 | c.3464C>A (p.Thr1155Asn) c.3710C>A (p.Thr1237Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034678T>A | CA378066020 | COL17A1 | c.3463A>T (p.Thr1155Ser) c.3709A>T (p.Thr1237Ser) | |
| 10 | g.104034678T>C | CA378066022 | COL17A1 | c.3463A>G (p.Thr1155Ala) c.3709A>G (p.Thr1237Ala) | |
| 10 | g.104034678T>G | CA378066021 | COL17A1 | c.3463A>C (p.Thr1155Pro) c.3709A>C (p.Thr1237Pro) | |
| 10 | g.104034679T>A | CA471341926 | COL17A1 | c.3462A>T (p.Ala1154=) c.3708A>T (p.Ala1236=) | |
| 10 | g.104034679T>C | CA471341927 | COL17A1 | c.3462A>G (p.Ala1154=) c.3708A>G (p.Ala1236=) | |
| 10 | g.104034679T>G | CA471341928 | COL17A1 | c.3462A>C (p.Ala1154=) c.3708A>C (p.Ala1236=) | |
| 10 | g.104034680G>A | CA378066023 | COL17A1 | c.3461C>T (p.Ala1154Val) c.3707C>T (p.Ala1236Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034680G>C | CA378066024 | COL17A1 | c.3461C>G (p.Ala1154Gly) c.3707C>G (p.Ala1236Gly) | gnomAD v4 |
| 10 | g.104034680G= | CA1933418745 | COL17A1 | c.3461C= (p.Ala1154=) c.3707C= (p.Ala1236=) | |
| 10 | g.104034680G>T | CA378066025 | COL17A1 | c.3461C>A (p.Ala1154Glu) c.3707C>A (p.Ala1236Glu) | |
| 10 | g.104034681C>A | CA378066026 | COL17A1 | c.3460G>T (p.Ala1154Ser) c.3706G>T (p.Ala1236Ser) | |
| 10 | g.104034681C= | CA1933418746 | COL17A1 | c.3460G= (p.Ala1154=) c.3706G= (p.Ala1236=) | |
| 10 | g.104034681C>G | CA378066027 | COL17A1 | c.3460G>C (p.Ala1154Pro) c.3706G>C (p.Ala1236Pro) | |
| 10 | g.104034681C>T | CA378066028 | COL17A1 | c.3460G>A (p.Ala1154Thr) c.3706G>A (p.Ala1236Thr) | dbSNP |
| 10 | g.104034682C>A | CA471341931 | COL17A1 | c.3459G>T (p.Leu1153=) c.3705G>T (p.Leu1235=) | |
| 10 | g.104034682C= | CA1933418747 | COL17A1 | c.3459G= (p.Leu1153=) c.3705G= (p.Leu1235=) | |
| 10 | g.104034682C>G | CA471341932 | COL17A1 | c.3459G>C (p.Leu1153=) c.3705G>C (p.Leu1235=) | |
| 10 | g.104034682C>T | CA471341934 | COL17A1 | c.3459G>A (p.Leu1153=) c.3705G>A (p.Leu1235=) | dbSNP gnomAD v2 |
| 10 | g.104034683A>C | CA378066029 | COL17A1 | c.3458T>G (p.Leu1153Arg) c.3704T>G (p.Leu1235Arg) | gnomAD v4 |
| 10 | g.104034683A>G | CA378066030 | COL17A1 | c.3458T>C (p.Leu1153Pro) c.3704T>C (p.Leu1235Pro) | gnomAD v4 |
| 10 | g.104034683A>T | CA378066031 | COL17A1 | c.3458T>A (p.Leu1153Gln) c.3704T>A (p.Leu1235Gln) | |
| 10 | g.104034684G>A | CA471341935 | COL17A1 | c.3457C>T (p.Leu1153=) c.3703C>T (p.Leu1235=) | ClinVar gnomAD v4 |
| 10 | g.104034684G>C | CA378066033 | COL17A1 | c.3457C>G (p.Leu1153Val) c.3703C>G (p.Leu1235Val) | |
| 10 | g.104034684G>T | CA378066032 | COL17A1 | c.3457C>A (p.Leu1153Met) c.3703C>A (p.Leu1235Met) | COSMIC |
| 10 | g.104034685G>A | CA471341937 | COL17A1 | c.3456C>T (p.Ala1152=) c.3702C>T (p.Ala1234=) | gnomAD v4 |
| 10 | g.104034685G>C | CA471341938 | COL17A1 | c.3456C>G (p.Ala1152=) c.3702C>G (p.Ala1234=) | gnomAD v4 |
| 10 | g.104034685G>T | CA471341940 | COL17A1 | c.3456C>A (p.Ala1152=) c.3702C>A (p.Ala1234=) | |
| 10 | g.104034686G>A | CA378066034 | COL17A1 | c.3455C>T (p.Ala1152Val) c.3701C>T (p.Ala1234Val) | dbSNP gnomAD v4 |
| 10 | g.104034686G>C | CA378066035 | COL17A1 | c.3455C>G (p.Ala1152Gly) c.3701C>G (p.Ala1234Gly) | |
| 10 | g.104034686G= | CA1933418748 | COL17A1 | c.3455C= (p.Ala1152=) c.3701C= (p.Ala1234=) | |
| 10 | g.104034686G>T | CA378066036 | COL17A1 | c.3455C>A (p.Ala1152Asp) c.3701C>A (p.Ala1234Asp) | |
| 10 | g.104034687C>A | CA378066037 | COL17A1 | c.3454G>T (p.Ala1152Ser) c.3700G>T (p.Ala1234Ser) | |
| 10 | g.104034687C= | CA1933418749 | COL17A1 | c.3454G= (p.Ala1152=) c.3700G= (p.Ala1234=) | |
| 10 | g.104034687C>G | CA378066038 | COL17A1 | c.3454G>C (p.Ala1152Pro) c.3700G>C (p.Ala1234Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034687C>T | CA378066039 | COL17A1 | c.3454G>A (p.Ala1152Thr) c.3700G>A (p.Ala1234Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034688T>A | CA471341941 | COL17A1 | c.3453A>T (p.Gly1151=) c.3699A>T (p.Gly1233=) | |
| 10 | g.104034688T>C | CA471341942 | COL17A1 | c.3453A>G (p.Gly1151=) c.3699A>G (p.Gly1233=) | |
| 10 | g.104034688T>G | CA471341943 | COL17A1 | c.3453A>C (p.Gly1151=) c.3699A>C (p.Gly1233=) | |
| 10 | g.104034689C>A | CA378066040 | COL17A1 | c.3452G>T (p.Gly1151Val) c.3698G>T (p.Gly1233Val) | |
| 10 | g.104034689C>G | CA378066041 | COL17A1 | c.3452G>C (p.Gly1151Ala) c.3698G>C (p.Gly1233Ala) | |
| 10 | g.104034689C>T | CA378066042 | COL17A1 | c.3452G>A (p.Gly1151Glu) c.3698G>A (p.Gly1233Glu) | |
| 10 | g.104034690C>A | CA378066043 | COL17A1 | c.3451G>T (p.Gly1151Ter) c.3697G>T (p.Gly1233Ter) | |
| 10 | g.104034690C= | CA1933418750 | COL17A1 | c.3451G= (p.Gly1151=) c.3697G= (p.Gly1233=) | |
| 10 | g.104034690C>G | CA212455831 | COL17A1 | c.3451G>C (p.Gly1151Arg) c.3697G>C (p.Gly1233Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034690C>T | CA378066044 | COL17A1 | c.3451G>A (p.Gly1151Arg) c.3697G>A (p.Gly1233Arg) | dbSNP |
| 10 | g.104034691T>A | CA471341947 | COL17A1 | c.3450A>T (p.Ser1150=) c.3696A>T (p.Ser1232=) | |
| 10 | g.104034691T>C | CA471341948 | COL17A1 | c.3450A>G (p.Ser1150=) c.3696A>G (p.Ser1232=) | |
| 10 | g.104034691T>G | CA471341949 | COL17A1 | c.3450A>C (p.Ser1150=) c.3696A>C (p.Ser1232=) | |
| 10 | g.104034692G>A | CA378066047 | COL17A1 | c.3449C>T (p.Ser1150Leu) c.3695C>T (p.Ser1232Leu) | |
| 10 | g.104034692G>C | CA378066045 | COL17A1 | c.3449C>G (p.Ser1150Ter) c.3695C>G (p.Ser1232Ter) | |
| 10 | g.104034692G= | CA1933418751 | COL17A1 | c.3449C= (p.Ser1150=) c.3695C= (p.Ser1232=) | |
| 10 | g.104034692G>T | CA378066046 | COL17A1 | c.3449C>A (p.Ser1150Ter) c.3695C>A (p.Ser1232Ter) | dbSNP gnomAD v2 |
| 10 | g.104034693A= | CA1933418752 | COL17A1 | c.3448T= (p.Ser1150=) c.3694T= (p.Ser1232=) | |
| 10 | g.104034693A>C | CA5677856 | COL17A1 | c.3448T>G (p.Ser1150Ala) c.3694T>G (p.Ser1232Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034693A>G | CA378066048 | COL17A1 | c.3448T>C (p.Ser1150Pro) c.3694T>C (p.Ser1232Pro) | |
| 10 | g.104034693A>T | CA378066049 | COL17A1 | c.3448T>A (p.Ser1150Thr) c.3694T>A (p.Ser1232Thr) | |
| 10 | g.104034694G>A | CA471341953 | COL17A1 | c.3447C>T (p.Val1149=) c.3693C>T (p.Val1231=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034694G>C | CA471341951 | COL17A1 | c.3447C>G (p.Val1149=) c.3693C>G (p.Val1231=) | |
| 10 | g.104034694G= | CA1933418753 | COL17A1 | c.3447C= (p.Val1149=) c.3693C= (p.Val1231=) | |
| 10 | g.104034694G>T | CA471341952 | COL17A1 | c.3447C>A (p.Val1149=) c.3693C>A (p.Val1231=) | |
| 10 | g.104034695A= | CA1933418754 | COL17A1 | c.3446T= (p.Val1149=) c.3692T= (p.Val1231=) | |
| 10 | g.104034695A>C | CA378066050 | COL17A1 | c.3446T>G (p.Val1149Gly) c.3692T>G (p.Val1231Gly) | |
| 10 | g.104034695A>G | CA5677857 | COL17A1 | c.3446T>C (p.Val1149Ala) c.3692T>C (p.Val1231Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034695A>T | CA378066051 | COL17A1 | c.3446T>A (p.Val1149Asp) c.3692T>A (p.Val1231Asp) | |
| 10 | g.104034696C>A | CA378066052 | COL17A1 | c.3445G>T (p.Val1149Phe) c.3691G>T (p.Val1231Phe) | |
| 10 | g.104034696C>G | CA378066053 | COL17A1 | c.3445G>C (p.Val1149Leu) c.3691G>C (p.Val1231Leu) | |
| 10 | g.104034696C>T | CA378066054 | COL17A1 | c.3445G>A (p.Val1149Ile) c.3691G>A (p.Val1231Ile) | |
| 10 | g.104034696_104034722del | CA2574660686 | COL17A1 | c.3419_3445del (p.Pro1140_Val1149delinsLeu) c.3665_3691del (p.Pro1222_Val1231delinsLeu) | |
| 10 | g.104034697A= | CA1933418755 | COL17A1 | c.3444T= (p.Gly1148=) c.3690T= (p.Gly1230=) | |
| 10 | g.104034697A>C | CA471341955 | COL17A1 | c.3444T>G (p.Gly1148=) c.3690T>G (p.Gly1230=) | dbSNP |
| 10 | g.104034697A>G | CA471341956 | COL17A1 | c.3444T>C (p.Gly1148=) c.3690T>C (p.Gly1230=) | gnomAD v4 |
| 10 | g.104034697A>T | CA471341957 | COL17A1 | c.3444T>A (p.Gly1148=) c.3690T>A (p.Gly1230=) | |
| 10 | g.104034698C>A | CA378066055 | COL17A1 | c.3443G>T (p.Gly1148Val) c.3689G>T (p.Gly1230Val) | |
| 10 | g.104034698C>G | CA378066056 | COL17A1 | c.3443G>C (p.Gly1148Ala) c.3689G>C (p.Gly1230Ala) | |
| 10 | g.104034698C>T | CA378066057 | COL17A1 | c.3443G>A (p.Gly1148Asp) c.3689G>A (p.Gly1230Asp) | gnomAD v4 |
| 10 | g.104034700dup | CA2695212676 | COL17A1 | c.3443dup (p.Val1149CysfsTer11) c.3689dup (p.Val1231CysfsTer11) | |
| 10 | g.104034700del | CA2610796722 | COL17A1 | c.3443del (p.Gly1148ValfsTer21) c.3689del (p.Gly1230ValfsTer21) | gnomAD v4 |
| 10 | g.104034700_104034717del | CA2610796725 | COL17A1 | c.3426_3443del (p.Pro1143_Gly1148del) c.3672_3689del (p.Pro1225_Gly1230del) | gnomAD v4 |
| 10 | g.104034699C>A | CA378066060 | COL17A1 | c.3442G>T (p.Gly1148Cys) c.3688G>T (p.Gly1230Cys) | |
| 10 | g.104034699C= | CA1933418757 | COL17A1 | c.3442G= (p.Gly1148=) c.3688G= (p.Gly1230=) | |
| 10 | g.104034699C>G | CA378066059 | COL17A1 | c.3442G>C (p.Gly1148Arg) c.3688G>C (p.Gly1230Arg) | |
| 10 | g.104034699C>T | CA378066058 | COL17A1 | c.3442G>A (p.Gly1148Ser) c.3688G>A (p.Gly1230Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034699_104034709delinsCCGGGGGCCCT | CA1933418756 | COL17A1 | c.3432_3442delinsAGGGCCCCCGG (p.Arg1144=) c.3678_3688delinsAGGGCCCCCGG (p.Arg1226=) | |
| 10 | g.104034700C>A | CA471341961 | COL17A1 | c.3441G>T (p.Pro1147=) c.3687G>T (p.Pro1229=) | |
| 10 | g.104034700C= | CA1933418758 | COL17A1 | c.3441G= (p.Pro1147=) c.3687G= (p.Pro1229=) | |
| 10 | g.104034700C>G | CA471341960 | COL17A1 | c.3441G>C (p.Pro1147=) c.3687G>C (p.Pro1229=) | gnomAD v4 |
| 10 | g.104034700C>T | CA5677858 | COL17A1 | c.3441G>A (p.Pro1147=) c.3687G>A (p.Pro1229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034702_104034711del | CA659194831 | COL17A1 | c.3432_3441del (p.Gly1145ValfsTer21) c.3678_3687del (p.Gly1227ValfsTer21) | dbSNP |
| 10 | g.104034701G>A | CA5677860 | COL17A1 | c.3440C>T (p.Pro1147Leu) c.3686C>T (p.Pro1229Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034701G>C | CA378066062 | COL17A1 | c.3440C>G (p.Pro1147Arg) c.3686C>G (p.Pro1229Arg) | gnomAD v4 |
| 10 | g.104034701G= | CA1933418759 | COL17A1 | c.3440C= (p.Pro1147=) c.3686C= (p.Pro1229=) | |
| 10 | g.104034701G>T | CA378066061 | COL17A1 | c.3440C>A (p.Pro1147Gln) c.3686C>A (p.Pro1229Gln) | |
| 10 | g.104034705dup | CA2580081217 | COL17A1 | c.3440dup (p.Val1149CysfsTer11) c.3686dup (p.Val1231CysfsTer11) | ClinVar |
| 10 | g.104034703_104034705dup | CA5677859 | COL17A1 | c.3438_3440dup (p.Pro1147_Gly1148insPro) c.3684_3686dup (p.Pro1229_Gly1230insPro) | dbSNP ExAC |
| 10 | g.104034705del | CA471341962 | COL17A1 | c.3440del (p.Pro1147ArgfsTer22) c.3686del (p.Pro1229ArgfsTer22) | gnomAD v4 COSMIC |
| 10 | g.104034702G>A | CA378066063 | COL17A1 | c.3439C>T (p.Pro1147Ser) c.3685C>T (p.Pro1229Ser) | |
| 10 | g.104034702G>C | CA378066064 | COL17A1 | c.3439C>G (p.Pro1147Ala) c.3685C>G (p.Pro1229Ala) | |
| 10 | g.104034702G>T | CA378066065 | COL17A1 | c.3439C>A (p.Pro1147Thr) c.3685C>A (p.Pro1229Thr) | gnomAD v4 |
| 10 | g.104034703G>A | CA471341966 | COL17A1 | c.3438C>T (p.Pro1146=) c.3684C>T (p.Pro1228=) | |
| 10 | g.104034703G>C | CA471341967 | COL17A1 | c.3438C>G (p.Pro1146=) c.3684C>G (p.Pro1228=) | ClinVar |
| 10 | g.104034703G= | CA1933418760 | COL17A1 | c.3438C= (p.Pro1146=) c.3684C= (p.Pro1228=) | |
| 10 | g.104034703G>T | CA471341968 | COL17A1 | c.3438C>A (p.Pro1146=) c.3684C>A (p.Pro1228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034704G>A | CA378066066 | COL17A1 | c.3437C>T (p.Pro1146Leu) c.3683C>T (p.Pro1228Leu) | |
| 10 | g.104034704G>C | CA378066067 | COL17A1 | c.3437C>G (p.Pro1146Arg) c.3683C>G (p.Pro1228Arg) | gnomAD v4 |
| 10 | g.104034704G= | CA1933418761 | COL17A1 | c.3437C= (p.Pro1146=) c.3683C= (p.Pro1228=) | |
| 10 | g.104034704G>T | CA5677861 | COL17A1 | c.3437C>A (p.Pro1146His) c.3683C>A (p.Pro1228His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034705G>A | CA378066068 | COL17A1 | c.3436C>T (p.Pro1146Ser) c.3682C>T (p.Pro1228Ser) | gnomAD v4 |
| 10 | g.104034705G>C | CA378066069 | COL17A1 | c.3436C>G (p.Pro1146Ala) c.3682C>G (p.Pro1228Ala) | |
| 10 | g.104034705G>T | CA378066070 | COL17A1 | c.3436C>A (p.Pro1146Thr) c.3682C>A (p.Pro1228Thr) | gnomAD v4 |
| 10 | g.104034706C>A | CA5677862 | COL17A1 | c.3435G>T (p.Gly1145=) c.3681G>T (p.Gly1227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034706C= | CA1933418762 | COL17A1 | c.3435G= (p.Gly1145=) c.3681G= (p.Gly1227=) | |
| 10 | g.104034706C>G | CA471341971 | COL17A1 | c.3435G>C (p.Gly1145=) c.3681G>C (p.Gly1227=) | |
| 10 | g.104034706C>T | CA471341972 | COL17A1 | c.3435G>A (p.Gly1145=) c.3681G>A (p.Gly1227=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034707C>A | CA378066073 | COL17A1 | c.3434G>T (p.Gly1145Val) c.3680G>T (p.Gly1227Val) | |
| 10 | g.104034707C>G | CA378066072 | COL17A1 | c.3434G>C (p.Gly1145Ala) c.3680G>C (p.Gly1227Ala) | |
| 10 | g.104034707C>T | CA378066071 | COL17A1 | c.3434G>A (p.Gly1145Glu) c.3680G>A (p.Gly1227Glu) | |
| 10 | g.104034708C>A | CA378066074 | COL17A1 | c.3433G>T (p.Gly1145Trp) c.3679G>T (p.Gly1227Trp) | gnomAD v4 |
| 10 | g.104034708C= | CA1933418763 | COL17A1 | c.3433G= (p.Gly1145=) c.3679G= (p.Gly1227=) | |
| 10 | g.104034708C>G | CA378066075 | COL17A1 | c.3433G>C (p.Gly1145Arg) c.3679G>C (p.Gly1227Arg) | |
| 10 | g.104034708C>T | CA378066076 | COL17A1 | c.3433G>A (p.Gly1145Arg) c.3679G>A (p.Gly1227Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034709_104034715del | CA2695212677 | COL17A1 | c.3427_3433del (p.Pro1143GlyfsTer24) c.3673_3679del (p.Pro1225GlyfsTer24) | |
| 10 | g.104034709T>A | CA471341975 | COL17A1 | c.3432A>T (p.Arg1144=) c.3678A>T (p.Arg1226=) | |
| 10 | g.104034709T>C | CA471341976 | COL17A1 | c.3432A>G (p.Arg1144=) c.3678A>G (p.Arg1226=) | dbSNP |
| 10 | g.104034709T>G | CA471341974 | COL17A1 | c.3432A>C (p.Arg1144=) c.3678A>C (p.Arg1226=) | |
| 10 | g.104034709T= | CA1933418764 | COL17A1 | c.3432A= (p.Arg1144=) c.3678A= (p.Arg1226=) | |
| 10 | g.104034710C>A | CA378066077 | COL17A1 | c.3431G>T (p.Arg1144Leu) c.3677G>T (p.Arg1226Leu) | |
| 10 | g.104034710C= | CA1933418765 | COL17A1 | c.3431G= (p.Arg1144=) c.3677G= (p.Arg1226=) | |
| 10 | g.104034710C>G | CA378066078 | COL17A1 | c.3431G>C (p.Arg1144Pro) c.3677G>C (p.Arg1226Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034710C>T | CA5677863 | COL17A1 | c.3431G>A (p.Arg1144Gln) c.3677G>A (p.Arg1226Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034710_104034737delinsCGAGGCCCTGGGGGACCAGGAGGTCCTG | CA1933418766 | COL17A1 | c.3404_3431delinsCAGGACCTCCTGGTCCCCCAGGGCCTCG (p.Pro1135=) c.3650_3677delinsCAGGACCTCCTGGTCCCCCAGGGCCTCG (p.Pro1217=) | |
| 10 | g.104034711G>A | CA127322 | COL17A1 | c.3430C>T (p.Arg1144Ter) c.3676C>T (p.Arg1226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034711G>C | CA378066079 | COL17A1 | c.3430C>G (p.Arg1144Gly) c.3676C>G (p.Arg1226Gly) | |
| 10 | g.104034711G= | CA1933418767 | COL17A1 | c.3430C= (p.Arg1144=) c.3676C= (p.Arg1226=) | |
| 10 | g.104034711G>T | CA471341977 | COL17A1 | c.3430C>A (p.Arg1144=) c.3676C>A (p.Arg1226=) | gnomAD v4 |
| 10 | g.104034715_104034741del | CA1933418768 | COL17A1 | c.3404_3430del (p.Pro1135_Pro1143del) c.3650_3676del (p.Pro1217_Pro1225del) | dbSNP |