| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034093G>A | CA471502758 | COL17A1 | c.3762C>T (p.Pro1254=) c.38C>T c.4008C>T (p.Pro1336=) | |
| 10 | g.104034093G>C | CA471502759 | COL17A1 | c.3762C>G (p.Pro1254=) c.38C>G c.4008C>G (p.Pro1336=) | |
| 10 | g.104034093G>T | CA471502775 | COL17A1 | c.3762C>A (p.Pro1254=) c.38C>A c.4008C>A (p.Pro1336=) | |
| 10 | g.104034095del | CA2610796361 | COL17A1 | c.3762del (p.Tyr1255MetfsTer?) c.38del c.4008del (p.Tyr1337MetfsTer?) | gnomAD v4 |
| 10 | g.104034094G>A | CA378065185 | COL17A1 | c.3761C>T (p.Pro1254Leu) c.37C>T c.4007C>T (p.Pro1336Leu) | |
| 10 | g.104034094G>C | CA378065186 | COL17A1 | c.3761C>G (p.Pro1254Arg) c.37C>G c.4007C>G (p.Pro1336Arg) | |
| 10 | g.104034094G>T | CA378065188 | COL17A1 | c.3761C>A (p.Pro1254His) c.37C>A c.4007C>A (p.Pro1336His) | |
| 10 | g.104034095G>A | CA378065190 | COL17A1 | c.3760C>T (p.Pro1254Ser) c.36C>T c.4006C>T (p.Pro1336Ser) | |
| 10 | g.104034095G>C | CA378065191 | COL17A1 | c.3760C>G (p.Pro1254Ala) c.36C>G c.4006C>G (p.Pro1336Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034095G= | CA1933418104 | COL17A1 | c.3760C= (p.Pro1254=) c.36C= c.4006C= (p.Pro1336=) | |
| 10 | g.104034095G>T | CA378065192 | COL17A1 | c.3760C>A (p.Pro1254Thr) c.36C>A c.4006C>A (p.Pro1336Thr) | |
| 10 | g.104034096A= | CA1933418108 | COL17A1 | c.3759T= (p.Gly1253=) c.35T= c.4005T= (p.Gly1335=) | |
| 10 | g.104034096A>C | CA471502779 | COL17A1 | c.3759T>G (p.Gly1253=) c.35T>G c.4005T>G (p.Gly1335=) | dbSNP |
| 10 | g.104034096A>G | CA471502777 | COL17A1 | c.3759T>C (p.Gly1253=) c.35T>C c.4005T>C (p.Gly1335=) | |
| 10 | g.104034096A>T | CA471502778 | COL17A1 | c.3759T>A (p.Gly1253=) c.35T>A c.4005T>A (p.Gly1335=) | |
| 10 | g.104034096_104034097delinsAC | CA1933418106 | COL17A1 | c.3758_3759delinsGT (p.Gly1253=) c.34_35delinsGT c.4004_4005delinsGT (p.Gly1335=) | |
| 10 | g.104034097C>A | CA378065196 | COL17A1 | c.3758G>T (p.Gly1253Val) c.34G>T c.4004G>T (p.Gly1335Val) | |
| 10 | g.104034097C= | CA1933418112 | COL17A1 | c.3758G= (p.Gly1253=) c.34G= c.4004G= (p.Gly1335=) | |
| 10 | g.104034097C>G | CA378065194 | COL17A1 | c.3758G>C (p.Gly1253Ala) c.34G>C c.4004G>C (p.Gly1335Ala) | |
| 10 | g.104034097C>T | CA5677741 | COL17A1 | c.3758G>A (p.Gly1253Asp) c.34G>A c.4004G>A (p.Gly1335Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034100del | CA1933418110 | COL17A1 | c.3758del (p.Gly1253ValfsTer?) c.34del c.4004del (p.Gly1335ValfsTer?) | dbSNP gnomAD v4 |
| 10 | g.104034098C>A | CA378065198 | COL17A1 | c.3757G>T (p.Gly1253Cys) c.33G>T c.4003G>T (p.Gly1335Cys) | dbSNP gnomAD v4 |
| 10 | g.104034098C= | CA1933418115 | COL17A1 | c.3757G= (p.Gly1253=) c.33G= c.4003G= (p.Gly1335=) | |
| 10 | g.104034098C>G | CA378065199 | COL17A1 | c.3757G>C (p.Gly1253Arg) c.33G>C c.4003G>C (p.Gly1335Arg) | |
| 10 | g.104034098C>T | CA378065201 | COL17A1 | c.3757G>A (p.Gly1253Ser) c.33G>A c.4003G>A (p.Gly1335Ser) | |
| 10 | g.104034099C>A | CA378065203 | COL17A1 | c.3756G>T (p.Arg1252Ser) c.32G>T c.4002G>T (p.Arg1334Ser) | |
| 10 | g.104034099C= | CA1933418118 | COL17A1 | c.3756G= (p.Arg1252=) c.32G= c.4002G= (p.Arg1334=) | |
| 10 | g.104034099C>G | CA5677742 | COL17A1 | c.3756G>C (p.Arg1252Ser) c.32G>C c.4002G>C (p.Arg1334Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034099C>T | CA471502782 | COL17A1 | c.3756G>A (p.Arg1252=) c.32G>A c.4002G>A (p.Arg1334=) | COSMIC |
| 10 | g.104034099_104034101delinsCCT | CA1933418119 | COL17A1 | c.3754_3756delinsAGG (p.Arg1252=) c.30_32delinsAGG c.4000_4002delinsAGG (p.Arg1334=) | |
| 10 | g.104034100C>A | CA378065205 | COL17A1 | c.3755G>T (p.Arg1252Met) c.31G>T c.4001G>T (p.Arg1334Met) | |
| 10 | g.104034100C= | CA1933418124 | COL17A1 | c.3755G= (p.Arg1252=) c.31G= c.4001G= (p.Arg1334=) | |
| 10 | g.104034100C>G | CA378065207 | COL17A1 | c.3755G>C (p.Arg1252Thr) c.31G>C c.4001G>C (p.Arg1334Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034100C>T | CA378065208 | COL17A1 | c.3755G>A (p.Arg1252Lys) c.31G>A c.4001G>A (p.Arg1334Lys) | |
| 10 | g.104034100_104034101del | CA659193854 | COL17A1 | c.3754_3755del (p.Arg1252GlyfsTer6) c.30_31del c.4000_4001del (p.Arg1334GlyfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034100_104034101delinsCT | CA1933418122 | COL17A1 | c.3754_3755delinsAG (p.Arg1252=) c.30_31delinsAG c.4000_4001delinsAG (p.Arg1334=) | |
| 10 | g.104034101del | CA5677743 | COL17A1 | c.3754del (p.Arg1252GlyfsTer?) c.30del c.4000del (p.Arg1334GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034101T>A | CA378065209 | COL17A1 | c.3754A>T (p.Arg1252Trp) c.30A>T c.4000A>T (p.Arg1334Trp) | |
| 10 | g.104034101T>C | CA5677744 | COL17A1 | c.3754A>G (p.Arg1252Gly) c.30A>G c.4000A>G (p.Arg1334Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034101T>G | CA471502786 | COL17A1 | c.3754A>C (p.Arg1252=) c.30A>C c.4000A>C (p.Arg1334=) | gnomAD v4 |
| 10 | g.104034101T= | CA1933418130 | COL17A1 | c.3754A= (p.Arg1252=) c.30A= c.4000A= (p.Arg1334=) | |
| 10 | g.104034102G>A | CA471502788 | COL17A1 | c.3753C>T (p.Asp1251=) c.29C>T c.3999C>T (p.Asp1333=) | |
| 10 | g.104034102G>C | CA378065212 | COL17A1 | c.3753C>G (p.Asp1251Glu) c.29C>G c.3999C>G (p.Asp1333Glu) | |
| 10 | g.104034102G>T | CA378065214 | COL17A1 | c.3753C>A (p.Asp1251Glu) c.29C>A c.3999C>A (p.Asp1333Glu) | |
| 10 | g.104034103T>A | CA378065215 | COL17A1 | c.3752A>T (p.Asp1251Val) c.28A>T c.3998A>T (p.Asp1333Val) | |
| 10 | g.104034103T>C | CA378065217 | COL17A1 | c.3752A>G (p.Asp1251Gly) c.28A>G c.3998A>G (p.Asp1333Gly) | |
| 10 | g.104034103T>G | CA378065216 | COL17A1 | c.3752A>C (p.Asp1251Ala) c.28A>C c.3998A>C (p.Asp1333Ala) | |
| 10 | g.104034104C>A | CA378065219 | COL17A1 | c.3751G>T (p.Asp1251Tyr) c.27G>T c.3997G>T (p.Asp1333Tyr) | |
| 10 | g.104034104C>G | CA378065221 | COL17A1 | c.3751G>C (p.Asp1251His) c.27G>C c.3997G>C (p.Asp1333His) | |
| 10 | g.104034104C>T | CA378065222 | COL17A1 | c.3751G>A (p.Asp1251Asn) c.27G>A c.3997G>A (p.Asp1333Asn) | dbSNP gnomAD v4 |