| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034696_104034722del | CA2574660686 | COL17A1 | c.3419_3445del (p.Pro1140_Val1149delinsLeu) c.3665_3691del (p.Pro1222_Val1231delinsLeu) | |
| 10 | g.104034700_104034717del | CA2610796725 | COL17A1 | c.3426_3443del (p.Pro1143_Gly1148del) c.3672_3689del (p.Pro1225_Gly1230del) | gnomAD v4 |
| 10 | g.104034702_104034711del | CA659194831 | COL17A1 | c.3432_3441del (p.Gly1145ValfsTer21) c.3678_3687del (p.Gly1227ValfsTer21) | dbSNP |
| 10 | g.104034709_104034715del | CA2695212677 | COL17A1 | c.3427_3433del (p.Pro1143GlyfsTer24) c.3673_3679del (p.Pro1225GlyfsTer24) | |
| 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 |
| 10 | g.104034712A>C | CA471341978 | COL17A1 | c.3429T>G (p.Pro1143=) c.3675T>G (p.Pro1225=) | gnomAD v4 |
| 10 | g.104034712A>G | CA471341979 | COL17A1 | c.3429T>C (p.Pro1143=) c.3675T>C (p.Pro1225=) | |
| 10 | g.104034712A>T | CA471341980 | COL17A1 | c.3429T>A (p.Pro1143=) c.3675T>A (p.Pro1225=) | |
| 10 | g.104034713G>A | CA378066080 | COL17A1 | c.3428C>T (p.Pro1143Leu) c.3674C>T (p.Pro1225Leu) | |
| 10 | g.104034713G>C | CA378066081 | COL17A1 | c.3428C>G (p.Pro1143Arg) c.3674C>G (p.Pro1225Arg) | |
| 10 | g.104034713G>T | CA378066082 | COL17A1 | c.3428C>A (p.Pro1143His) c.3674C>A (p.Pro1225His) | |
| 10 | g.104034714G>A | CA378066085 | COL17A1 | c.3427C>T (p.Pro1143Ser) c.3673C>T (p.Pro1225Ser) | |
| 10 | g.104034714G>C | CA378066084 | COL17A1 | c.3427C>G (p.Pro1143Ala) c.3673C>G (p.Pro1225Ala) | |
| 10 | g.104034714G>T | CA378066083 | COL17A1 | c.3427C>A (p.Pro1143Thr) c.3673C>A (p.Pro1225Thr) | |
| 10 | g.104034714_104034715delinsGC | CA1933418769 | COL17A1 | c.3426_3427delinsGC (p.Gly1142=) c.3672_3673delinsGC (p.Gly1224=) | |
| 10 | g.104034715C>A | CA471341983 | COL17A1 | c.3426G>T (p.Gly1142=) c.3672G>T (p.Gly1224=) | dbSNP gnomAD v4 |
| 10 | g.104034715C= | CA1933418770 | COL17A1 | c.3426G= (p.Gly1142=) c.3672G= (p.Gly1224=) | |
| 10 | g.104034715C>G | CA471341984 | COL17A1 | c.3426G>C (p.Gly1142=) c.3672G>C (p.Gly1224=) | gnomAD v4 |
| 10 | g.104034715C>T | CA212455874 | COL17A1 | c.3426G>A (p.Gly1142=) c.3672G>A (p.Gly1224=) | dbSNP |
| 10 | g.104034717del | CA5677864 | COL17A1 | c.3426del (p.Pro1143LeufsTer26) c.3672del (p.Pro1225LeufsTer26) | ClinVar dbSNP ExAC gnomAD v2 |
| 10 | g.104034716C>A | CA378066086 | COL17A1 | c.3425G>T (p.Gly1142Val) c.3671G>T (p.Gly1224Val) | |
| 10 | g.104034716C= | CA1933418771 | COL17A1 | c.3425G= (p.Gly1142=) c.3671G= (p.Gly1224=) | |
| 10 | g.104034716C>G | CA378066087 | COL17A1 | c.3425G>C (p.Gly1142Ala) c.3671G>C (p.Gly1224Ala) | |
| 10 | g.104034716C>T | CA378066088 | COL17A1 | c.3425G>A (p.Gly1142Glu) c.3671G>A (p.Gly1224Glu) | dbSNP gnomAD v2 COSMIC |
| 10 | g.104034717C>A | CA378066089 | COL17A1 | c.3424G>T (p.Gly1142Trp) c.3670G>T (p.Gly1224Trp) | |
| 10 | g.104034717C= | CA1933418772 | COL17A1 | c.3424G= (p.Gly1142=) c.3670G= (p.Gly1224=) | |
| 10 | g.104034717C>G | CA378066090 | COL17A1 | c.3424G>C (p.Gly1142Arg) c.3670G>C (p.Gly1224Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034717C>T | CA5677865 | COL17A1 | c.3424G>A (p.Gly1142Arg) c.3670G>A (p.Gly1224Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034718T>A | CA471341988 | COL17A1 | c.3423A>T (p.Pro1141=) c.3669A>T (p.Pro1223=) | |
| 10 | g.104034718T>C | CA471341989 | COL17A1 | c.3423A>G (p.Pro1141=) c.3669A>G (p.Pro1223=) | ClinVar gnomAD v4 |
| 10 | g.104034718T>G | CA471341990 | COL17A1 | c.3423A>C (p.Pro1141=) c.3669A>C (p.Pro1223=) | |
| 10 | g.104034719G>A | CA378066091 | COL17A1 | c.3422C>T (p.Pro1141Leu) c.3668C>T (p.Pro1223Leu) | |
| 10 | g.104034719G>C | CA5677866 | COL17A1 | c.3422C>G (p.Pro1141Arg) c.3668C>G (p.Pro1223Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034719G= | CA1933418773 | COL17A1 | c.3422C= (p.Pro1141=) c.3668C= (p.Pro1223=) | |
| 10 | g.104034719G>T | CA378066092 | COL17A1 | c.3422C>A (p.Pro1141Gln) c.3668C>A (p.Pro1223Gln) | |
| 10 | g.104034723del | CA2610796775 | COL17A1 | c.3422del (p.Pro1141GlnfsTer28) c.3668del (p.Pro1223GlnfsTer28) | gnomAD v4 |
| 10 | g.104034720G>A | CA378066093 | COL17A1 | c.3421C>T (p.Pro1141Ser) c.3667C>T (p.Pro1223Ser) | |
| 10 | g.104034720G>C | CA378066094 | COL17A1 | c.3421C>G (p.Pro1141Ala) c.3667C>G (p.Pro1223Ala) | |
| 10 | g.104034720G>T | CA378066095 | COL17A1 | c.3421C>A (p.Pro1141Thr) c.3667C>A (p.Pro1223Thr) | COSMIC |
| 10 | g.104034721G>A | CA471341994 | COL17A1 | c.3420C>T (p.Pro1140=) c.3666C>T (p.Pro1222=) | |
| 10 | g.104034721G>C | CA471341995 | COL17A1 | c.3420C>G (p.Pro1140=) c.3666C>G (p.Pro1222=) | ClinVar |
| 10 | g.104034721G>T | CA471341996 | COL17A1 | c.3420C>A (p.Pro1140=) c.3666C>A (p.Pro1222=) | |
| 10 | g.104034722G>A | CA378066098 | COL17A1 | c.3419C>T (p.Pro1140Leu) c.3665C>T (p.Pro1222Leu) | |
| 10 | g.104034722G>C | CA378066096 | COL17A1 | c.3419C>G (p.Pro1140Arg) c.3665C>G (p.Pro1222Arg) | |
| 10 | g.104034722G>T | CA378066097 | COL17A1 | c.3419C>A (p.Pro1140His) c.3665C>A (p.Pro1222His) |