Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |