| 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) | 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.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) | 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) | 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) |