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.104034696_104034722del | CA2574660686 | COL17A1 | c.3419_3445del (p.Pro1140_Val1149delinsLeu) c.3665_3691del (p.Pro1222_Val1231delinsLeu) | |
| 10 | g.104034710_104034737delinsCGAGGCCCTGGGGGACCAGGAGGTCCTG | CA1933418766 | COL17A1 | c.3404_3431delinsCAGGACCTCCTGGTCCCCCAGGGCCTCG (p.Pro1135=) c.3650_3677delinsCAGGACCTCCTGGTCCCCCAGGGCCTCG (p.Pro1217=) | |
| 10 | g.104034715_104034741del | CA1933418768 | COL17A1 | c.3404_3430del (p.Pro1135_Pro1143del) c.3650_3676del (p.Pro1217_Pro1225del) | dbSNP |
| 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) | |
| 10 | g.104034723G>A | CA212455882 | COL17A1 | c.3418C>T (p.Pro1140Ser) c.3664C>T (p.Pro1222Ser) | dbSNP |
| 10 | g.104034723G>C | CA378066099 | COL17A1 | c.3418C>G (p.Pro1140Ala) c.3664C>G (p.Pro1222Ala) | gnomAD v4 |
| 10 | g.104034723G= | CA1933418774 | COL17A1 | c.3418C= (p.Pro1140=) c.3664C= (p.Pro1222=) | |
| 10 | g.104034723G>T | CA378066100 | COL17A1 | c.3418C>A (p.Pro1140Thr) c.3664C>A (p.Pro1222Thr) | dbSNP gnomAD v4 |
| 10 | g.104034724A>C | CA471342002 | COL17A1 | c.3417T>G (p.Gly1139=) c.3663T>G (p.Gly1221=) | |
| 10 | g.104034724A>G | CA471342000 | COL17A1 | c.3417T>C (p.Gly1139=) c.3663T>C (p.Gly1221=) | |
| 10 | g.104034724A>T | CA471342001 | COL17A1 | c.3417T>A (p.Gly1139=) c.3663T>A (p.Gly1221=) | |
| 10 | g.104034725C>A | CA378066101 | COL17A1 | c.3416G>T (p.Gly1139Val) c.3662G>T (p.Gly1221Val) | |
| 10 | g.104034725C>G | CA378066102 | COL17A1 | c.3416G>C (p.Gly1139Ala) c.3662G>C (p.Gly1221Ala) | gnomAD v4 |
| 10 | g.104034725C>T | CA378066103 | COL17A1 | c.3416G>A (p.Gly1139Asp) c.3662G>A (p.Gly1221Asp) | |
| 10 | g.104034726C>A | CA378066104 | COL17A1 | c.3415G>T (p.Gly1139Cys) c.3661G>T (p.Gly1221Cys) | gnomAD v4 |
| 10 | g.104034726C= | CA1933418775 | COL17A1 | c.3415G= (p.Gly1139=) c.3661G= (p.Gly1221=) | |
| 10 | g.104034726C>G | CA5677867 | COL17A1 | c.3415G>C (p.Gly1139Arg) c.3661G>C (p.Gly1221Arg) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034726C>T | CA378066105 | COL17A1 | c.3415G>A (p.Gly1139Ser) c.3661G>A (p.Gly1221Ser) | dbSNP |
| 10 | g.104034727A>C | CA471342004 | COL17A1 | c.3414T>G (p.Pro1138=) c.3660T>G (p.Pro1220=) | ClinVar gnomAD v4 |
| 10 | g.104034727A>G | CA471342006 | COL17A1 | c.3414T>C (p.Pro1138=) c.3660T>C (p.Pro1220=) | |
| 10 | g.104034727A>T | CA471342008 | COL17A1 | c.3414T>A (p.Pro1138=) c.3660T>A (p.Pro1220=) | gnomAD v4 |
| 10 | g.104034728G>A | CA378066106 | COL17A1 | c.3413C>T (p.Pro1138Leu) c.3659C>T (p.Pro1220Leu) | |
| 10 | g.104034728G>C | CA378066107 | COL17A1 | c.3413C>G (p.Pro1138Arg) c.3659C>G (p.Pro1220Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034728G= | CA1933418776 | COL17A1 | c.3413C= (p.Pro1138=) c.3659C= (p.Pro1220=) | |
| 10 | g.104034728G>T | CA378066108 | COL17A1 | c.3413C>A (p.Pro1138His) c.3659C>A (p.Pro1220His) | |
| 10 | g.104034729G>A | CA378066111 | COL17A1 | c.3412C>T (p.Pro1138Ser) c.3658C>T (p.Pro1220Ser) | gnomAD v4 |
| 10 | g.104034729G>C | CA378066109 | COL17A1 | c.3412C>G (p.Pro1138Ala) c.3658C>G (p.Pro1220Ala) | |
| 10 | g.104034729G>T | CA378066110 | COL17A1 | c.3412C>A (p.Pro1138Thr) c.3658C>A (p.Pro1220Thr) | |
| 10 | g.104034729_104034730insCTG | CA5677868 | COL17A1 | c.3412_3413insAGC (p.Pro1137_Pro1138insGln) c.3658_3659insAGC (p.Pro1219_Pro1220insGln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034730A= | CA1933418777 | COL17A1 | c.3411T= (p.Pro1137=) c.3657T= (p.Pro1219=) | |
| 10 | g.104034730A>C | CA471342009 | COL17A1 | c.3411T>G (p.Pro1137=) c.3657T>G (p.Pro1219=) | |
| 10 | g.104034730A>G | CA471342011 | COL17A1 | c.3411T>C (p.Pro1137=) c.3657T>C (p.Pro1219=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034730A>T | CA471342013 | COL17A1 | c.3411T>A (p.Pro1137=) c.3657T>A (p.Pro1219=) | dbSNP COSMIC |
| 10 | g.104034731G>A | CA5677869 | COL17A1 | c.3410C>T (p.Pro1137Leu) c.3656C>T (p.Pro1219Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034731G>C | CA378066112 | COL17A1 | c.3410C>G (p.Pro1137Arg) c.3656C>G (p.Pro1219Arg) | |
| 10 | g.104034731G= | CA1933418778 | COL17A1 | c.3410C= (p.Pro1137=) c.3656C= (p.Pro1219=) | |
| 10 | g.104034731G>T | CA378066113 | COL17A1 | c.3410C>A (p.Pro1137His) c.3656C>A (p.Pro1219His) | |
| 10 | g.104034732G>A | CA378066114 | COL17A1 | c.3409C>T (p.Pro1137Ser) c.3655C>T (p.Pro1219Ser) | gnomAD v4 |
| 10 | g.104034732G>C | CA378066115 | COL17A1 | c.3409C>G (p.Pro1137Ala) c.3655C>G (p.Pro1219Ala) | |
| 10 | g.104034732G>T | CA378066116 | COL17A1 | c.3409C>A (p.Pro1137Thr) c.3655C>A (p.Pro1219Thr) | |
| 10 | g.104034733T>A | CA471342016 | COL17A1 | c.3408A>T (p.Gly1136=) c.3654A>T (p.Gly1218=) | COSMIC |
| 10 | g.104034733T>C | CA471342017 | COL17A1 | c.3408A>G (p.Gly1136=) c.3654A>G (p.Gly1218=) | ClinVar |
| 10 | g.104034733T>G | CA471342018 | COL17A1 | c.3408A>C (p.Gly1136=) c.3654A>C (p.Gly1218=) | |
| 10 | g.104034734C>A | CA378066117 | COL17A1 | c.3407G>T (p.Gly1136Val) c.3653G>T (p.Gly1218Val) | |
| 10 | g.104034734C= | CA1933418779 | COL17A1 | c.3407G= (p.Gly1136=) c.3653G= (p.Gly1218=) | |
| 10 | g.104034734C>G | CA378066118 | COL17A1 | c.3407G>C (p.Gly1136Ala) c.3653G>C (p.Gly1218Ala) | |
| 10 | g.104034734C>T | CA378066119 | COL17A1 | c.3407G>A (p.Gly1136Glu) c.3653G>A (p.Gly1218Glu) | dbSNP |
| 10 | g.104034739_104034747del | CA2610796776 | COL17A1 | c.3399_3407del (p.Pro1134_Gly1136del) c.3645_3653del (p.Pro1216_Gly1218del) | gnomAD v4 |
| 10 | g.104034735C>A | CA378066120 | COL17A1 | c.3406G>T (p.Gly1136Ter) c.3652G>T (p.Gly1218Ter) | |
| 10 | g.104034735C>G | CA378066121 | COL17A1 | c.3406G>C (p.Gly1136Arg) c.3652G>C (p.Gly1218Arg) | |
| 10 | g.104034735C>T | CA378066122 | COL17A1 | c.3406G>A (p.Gly1136Arg) c.3652G>A (p.Gly1218Arg) | gnomAD v4 |
| 10 | g.104034736T>A | CA471342020 | COL17A1 | c.3405A>T (p.Pro1135=) c.3651A>T (p.Pro1217=) | |
| 10 | g.104034736T>C | CA471342021 | COL17A1 | c.3405A>G (p.Pro1135=) c.3651A>G (p.Pro1217=) | |
| 10 | g.104034736T>G | CA212455900 | COL17A1 | c.3405A>C (p.Pro1135=) c.3651A>C (p.Pro1217=) | dbSNP |
| 10 | g.104034736T= | CA1933418780 | COL17A1 | c.3405A= (p.Pro1135=) c.3651A= (p.Pro1217=) | |
| 10 | g.104034737G>A | CA212455908 | COL17A1 | c.3404C>T (p.Pro1135Leu) c.3650C>T (p.Pro1217Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034737G>C | CA378066123 | COL17A1 | c.3404C>G (p.Pro1135Arg) c.3650C>G (p.Pro1217Arg) | |
| 10 | g.104034737G= | CA1933418781 | COL17A1 | c.3404C= (p.Pro1135=) c.3650C= (p.Pro1217=) | |
| 10 | g.104034737G>T | CA378066124 | COL17A1 | c.3404C>A (p.Pro1135Gln) c.3650C>A (p.Pro1217Gln) | |
| 10 | g.104034738G>A | CA378066125 | COL17A1 | c.3403C>T (p.Pro1135Ser) c.3649C>T (p.Pro1217Ser) | |
| 10 | g.104034738G>C | CA378066127 | COL17A1 | c.3403C>G (p.Pro1135Ala) c.3649C>G (p.Pro1217Ala) | |
| 10 | g.104034738G>T | CA378066126 | COL17A1 | c.3403C>A (p.Pro1135Thr) c.3649C>A (p.Pro1217Thr) | |
| 10 | g.104034739A= | CA1933418782 | COL17A1 | c.3402T= (p.Pro1134=) c.3648T= (p.Pro1216=) | |
| 10 | g.104034739A>C | CA471342022 | COL17A1 | c.3402T>G (p.Pro1134=) c.3648T>G (p.Pro1216=) | |
| 10 | g.104034739A>G | CA471342023 | COL17A1 | c.3402T>C (p.Pro1134=) c.3648T>C (p.Pro1216=) | dbSNP gnomAD v4 |
| 10 | g.104034739A>T | CA471342024 | COL17A1 | c.3402T>A (p.Pro1134=) c.3648T>A (p.Pro1216=) | |
| 10 | g.104034740G>A | CA378066128 | COL17A1 | c.3401C>T (p.Pro1134Leu) c.3647C>T (p.Pro1216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034740G>C | CA378066129 | COL17A1 | c.3401C>G (p.Pro1134Arg) c.3647C>G (p.Pro1216Arg) | |
| 10 | g.104034740G= | CA1933418783 | COL17A1 | c.3401C= (p.Pro1134=) c.3647C= (p.Pro1216=) | |
| 10 | g.104034740G>T | CA378066130 | COL17A1 | c.3401C>A (p.Pro1134His) c.3647C>A (p.Pro1216His) | gnomAD v4 |
| 10 | g.104034741G>A | CA378066131 | COL17A1 | c.3400C>T (p.Pro1134Ser) c.3646C>T (p.Pro1216Ser) | gnomAD v4 |
| 10 | g.104034741G>C | CA378066132 | COL17A1 | c.3400C>G (p.Pro1134Ala) c.3646C>G (p.Pro1216Ala) | |
| 10 | g.104034741G>T | CA378066133 | COL17A1 | c.3400C>A (p.Pro1134Thr) c.3646C>A (p.Pro1216Thr) | gnomAD v4 |
| 10 | g.104034742G>A | CA5677870 | COL17A1 | c.3399C>T (p.Gly1133=) c.3645C>T (p.Gly1215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034742G>C | CA471342028 | COL17A1 | c.3399C>G (p.Gly1133=) c.3645C>G (p.Gly1215=) | |
| 10 | g.104034742G= | CA1933418784 | COL17A1 | c.3399C= (p.Gly1133=) c.3645C= (p.Gly1215=) | |
| 10 | g.104034742G>T | CA471342029 | COL17A1 | c.3399C>A (p.Gly1133=) c.3645C>A (p.Gly1215=) | dbSNP |
| 10 | g.104034743C>A | CA378066134 | COL17A1 | c.3398G>T (p.Gly1133Val) c.3644G>T (p.Gly1215Val) | |
| 10 | g.104034743C= | CA1933418785 | COL17A1 | c.3398G= (p.Gly1133=) c.3644G= (p.Gly1215=) | |
| 10 | g.104034743C>G | CA378066135 | COL17A1 | c.3398G>C (p.Gly1133Ala) c.3644G>C (p.Gly1215Ala) | |
| 10 | g.104034743C>T | CA212455923 | COL17A1 | c.3398G>A (p.Gly1133Asp) c.3644G>A (p.Gly1215Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034744C>A | CA378066138 | COL17A1 | c.3397G>T (p.Gly1133Cys) c.3643G>T (p.Gly1215Cys) | |
| 10 | g.104034744C>G | CA378066137 | COL17A1 | c.3397G>C (p.Gly1133Arg) c.3643G>C (p.Gly1215Arg) | |
| 10 | g.104034744C>T | CA378066136 | COL17A1 | c.3397G>A (p.Gly1133Ser) c.3643G>A (p.Gly1215Ser) | |
| 10 | g.104034745T>A | CA471342033 | COL17A1 | c.3396A>T (p.Pro1132=) c.3642A>T (p.Pro1214=) | |
| 10 | g.104034745T>C | CA471342034 | COL17A1 | c.3396A>G (p.Pro1132=) c.3642A>G (p.Pro1214=) | |
| 10 | g.104034745T>G | CA471342035 | COL17A1 | c.3396A>C (p.Pro1132=) c.3642A>C (p.Pro1214=) | |
| 10 | g.104034746G>A | CA378066139 | COL17A1 | c.3395C>T (p.Pro1132Leu) c.3641C>T (p.Pro1214Leu) | gnomAD v4 |
| 10 | g.104034746G>C | CA378066140 | COL17A1 | c.3395C>G (p.Pro1132Arg) c.3641C>G (p.Pro1214Arg) | |
| 10 | g.104034746G>T | CA378066141 | COL17A1 | c.3395C>A (p.Pro1132Gln) c.3641C>A (p.Pro1214Gln) | |
| 10 | g.104034748del | CA2610796783 | COL17A1 | c.3395del (p.Pro1132GlnfsTer?) c.3641del (p.Pro1214GlnfsTer?) | gnomAD v4 |
| 10 | g.104034747G>A | CA5677871 | COL17A1 | c.3394C>T (p.Pro1132Ser) c.3640C>T (p.Pro1214Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034747G>C | CA378066142 | COL17A1 | c.3394C>G (p.Pro1132Ala) c.3640C>G (p.Pro1214Ala) | |
| 10 | g.104034747G= | CA1933418786 | COL17A1 | c.3394C= (p.Pro1132=) c.3640C= (p.Pro1214=) | |
| 10 | g.104034747G>T | CA378066143 | COL17A1 | c.3394C>A (p.Pro1132Thr) c.3640C>A (p.Pro1214Thr) | gnomAD v4 |
| 10 | g.104034748G>A | CA471342039 | COL17A1 | c.3393C>T (p.Ile1131=) c.3639C>T (p.Ile1213=) | COSMIC |
| 10 | g.104034748G>C | CA378066144 | COL17A1 | c.3393C>G (p.Ile1131Met) c.3639C>G (p.Ile1213Met) | |
| 10 | g.104034748G>T | CA471342041 | COL17A1 | c.3393C>A (p.Ile1131=) c.3639C>A (p.Ile1213=) | |
| 10 | g.104034749A>C | CA378066145 | COL17A1 | c.3392T>G (p.Ile1131Ser) c.3638T>G (p.Ile1213Ser) | |
| 10 | g.104034749A>G | CA378066146 | COL17A1 | c.3392T>C (p.Ile1131Thr) c.3638T>C (p.Ile1213Thr) | gnomAD v4 |
| 10 | g.104034749A>T | CA378066147 | COL17A1 | c.3392T>A (p.Ile1131Asn) c.3638T>A (p.Ile1213Asn) | |
| 10 | g.104034750T>A | CA378066148 | COL17A1 | c.3391A>T (p.Ile1131Phe) c.3637A>T (p.Ile1213Phe) | |
| 10 | g.104034750T>C | CA378066149 | COL17A1 | c.3391A>G (p.Ile1131Val) c.3637A>G (p.Ile1213Val) | gnomAD v4 |
| 10 | g.104034750T>G | CA378066150 | COL17A1 | c.3391A>C (p.Ile1131Leu) c.3637A>C (p.Ile1213Leu) | |
| 10 | g.104034751G>A | CA471342043 | COL17A1 | c.3390C>T (p.Phe1130=) c.3636C>T (p.Phe1212=) | |
| 10 | g.104034751G>C | CA378066152 | COL17A1 | c.3390C>G (p.Phe1130Leu) c.3636C>G (p.Phe1212Leu) | |
| 10 | g.104034751G>T | CA378066151 | COL17A1 | c.3390C>A (p.Phe1130Leu) c.3636C>A (p.Phe1212Leu) | gnomAD v4 |
| 10 | g.104034752A>C | CA378066153 | COL17A1 | c.3389T>G (p.Phe1130Cys) c.3635T>G (p.Phe1212Cys) | |
| 10 | g.104034752A>G | CA378066154 | COL17A1 | c.3389T>C (p.Phe1130Ser) c.3635T>C (p.Phe1212Ser) | gnomAD v4 |
| 10 | g.104034752A>T | CA378066155 | COL17A1 | c.3389T>A (p.Phe1130Tyr) c.3635T>A (p.Phe1212Tyr) | |
| 10 | g.104034753A>C | CA378066156 | COL17A1 | c.3388T>G (p.Phe1130Val) c.3634T>G (p.Phe1212Val) | |
| 10 | g.104034753A>G | CA378066157 | COL17A1 | c.3388T>C (p.Phe1130Leu) c.3634T>C (p.Phe1212Leu) | |
| 10 | g.104034753A>T | CA378066158 | COL17A1 | c.3388T>A (p.Phe1130Ile) c.3634T>A (p.Phe1212Ile) | |
| 10 | g.104034754T>A | CA471342045 | COL17A1 | c.3387A>T (p.Ser1129=) c.3633A>T (p.Ser1211=) | |
| 10 | g.104034754T>C | CA5677872 | COL17A1 | c.3387A>G (p.Ser1129=) c.3633A>G (p.Ser1211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034754T>G | CA471342046 | COL17A1 | c.3387A>C (p.Ser1129=) c.3633A>C (p.Ser1211=) | |
| 10 | g.104034754T= | CA1933418787 | COL17A1 | c.3387A= (p.Ser1129=) c.3633A= (p.Ser1211=) | |
| 10 | g.104034755G>A | CA378066159 | COL17A1 | c.3386C>T (p.Ser1129Leu) c.3632C>T (p.Ser1211Leu) | gnomAD v4 |
| 10 | g.104034755G>C | CA378066160 | COL17A1 | c.3386C>G (p.Ser1129Ter) c.3632C>G (p.Ser1211Ter) | |
| 10 | g.104034755G>T | CA378066161 | COL17A1 | c.3386C>A (p.Ser1129Ter) c.3632C>A (p.Ser1211Ter) | |
| 10 | g.104034756A>C | CA378066162 | COL17A1 | c.3385T>G (p.Ser1129Ala) c.3631T>G (p.Ser1211Ala) | |
| 10 | g.104034756A>G | CA378066163 | COL17A1 | c.3385T>C (p.Ser1129Pro) c.3631T>C (p.Ser1211Pro) | gnomAD v4 |
| 10 | g.104034756A>T | CA378066164 | COL17A1 | c.3385T>A (p.Ser1129Thr) c.3631T>A (p.Ser1211Thr) | gnomAD v4 |
| 10 | g.104034757C>A | CA378066165 | COL17A1 | c.3384G>T (p.Leu1128Phe) c.3630G>T (p.Leu1210Phe) | |
| 10 | g.104034757C= | CA1933418788 | COL17A1 | c.3384G= (p.Leu1128=) c.3630G= (p.Leu1210=) | |
| 10 | g.104034757C>G | CA378066166 | COL17A1 | c.3384G>C (p.Leu1128Phe) c.3630G>C (p.Leu1210Phe) | |
| 10 | g.104034757C>T | CA5677873 | COL17A1 | c.3384G>A (p.Leu1128=) c.3630G>A (p.Leu1210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034758A>C | CA378066169 | COL17A1 | c.3383T>G (p.Leu1128Trp) c.3629T>G (p.Leu1210Trp) | |
| 10 | g.104034758A>G | CA378066167 | COL17A1 | c.3383T>C (p.Leu1128Ser) c.3629T>C (p.Leu1210Ser) | |
| 10 | g.104034758A>T | CA378066168 | COL17A1 | c.3383T>A (p.Leu1128Ter) c.3629T>A (p.Leu1210Ter) | |
| 10 | g.104034759A>C | CA378066170 | COL17A1 | c.3382T>G (p.Leu1128Val) c.3628T>G (p.Leu1210Val) | |
| 10 | g.104034759A>G | CA471342051 | COL17A1 | c.3382T>C (p.Leu1128=) c.3628T>C (p.Leu1210=) | gnomAD v4 |
| 10 | g.104034759A>T | CA378066171 | COL17A1 | c.3382T>A (p.Leu1128Met) c.3628T>A (p.Leu1210Met) | |
| 10 | g.104034760G>A | CA212455932 | COL17A1 | c.3381C>T (p.Gly1127=) c.3627C>T (p.Gly1209=) | dbSNP gnomAD v4 |
| 10 | g.104034760G>C | CA471342052 | COL17A1 | c.3381C>G (p.Gly1127=) c.3627C>G (p.Gly1209=) | |
| 10 | g.104034760G= | CA1933418789 | COL17A1 | c.3381C= (p.Gly1127=) c.3627C= (p.Gly1209=) | |
| 10 | g.104034760G>T | CA471342053 | COL17A1 | c.3381C>A (p.Gly1127=) c.3627C>A (p.Gly1209=) | |
| 10 | g.104034761C>A | CA378066172 | COL17A1 | c.3380G>T (p.Gly1127Val) c.3626G>T (p.Gly1209Val) | dbSNP |
| 10 | g.104034761C= | CA1933418790 | COL17A1 | c.3380G= (p.Gly1127=) c.3626G= (p.Gly1209=) | |
| 10 | g.104034761C>G | CA378066173 | COL17A1 | c.3380G>C (p.Gly1127Ala) c.3626G>C (p.Gly1209Ala) | |
| 10 | g.104034761C>T | CA378066174 | COL17A1 | c.3380G>A (p.Gly1127Asp) c.3626G>A (p.Gly1209Asp) | |
| 10 | g.104034762C>A | CA378066175 | COL17A1 | c.3379G>T (p.Gly1127Cys) c.3625G>T (p.Gly1209Cys) | gnomAD v4 |
| 10 | g.104034762C= | CA1933418791 | COL17A1 | c.3379G= (p.Gly1127=) c.3625G= (p.Gly1209=) | |
| 10 | g.104034762C>G | CA212455933 | COL17A1 | c.3379G>C (p.Gly1127Arg) c.3625G>C (p.Gly1209Arg) | dbSNP |
| 10 | g.104034762C>T | CA5677874 | COL17A1 | c.3379G>A (p.Gly1127Ser) c.3625G>A (p.Gly1209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034763G>A | CA5677875 | COL17A1 | c.3378C>T (p.Ala1126=) c.3624C>T (p.Ala1208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034763G>C | CA471342054 | COL17A1 | c.3378C>G (p.Ala1126=) c.3624C>G (p.Ala1208=) | |
| 10 | g.104034763G= | CA1933418792 | COL17A1 | c.3378C= (p.Ala1126=) c.3624C= (p.Ala1208=) | |
| 10 | g.104034763G>T | CA471342055 | COL17A1 | c.3378C>A (p.Ala1126=) c.3624C>A (p.Ala1208=) | gnomAD v4 |
| 10 | g.104034764G>A | CA378066177 | COL17A1 | c.3377C>T (p.Ala1126Val) c.3623C>T (p.Ala1208Val) | gnomAD v4 |
| 10 | g.104034764G>C | CA378066178 | COL17A1 | c.3377C>G (p.Ala1126Gly) c.3623C>G (p.Ala1208Gly) | |
| 10 | g.104034764G>T | CA378066176 | COL17A1 | c.3377C>A (p.Ala1126Asp) c.3623C>A (p.Ala1208Asp) | |
| 10 | g.104034764_104034765delinsAA | CA645568154 | COL17A1 | c.3376_3377delinsTT (p.Ala1126Phe) c.3622_3623delinsTT (p.Ala1208Phe) | COSMIC |
| 10 | g.104034765C>A | CA378066179 | COL17A1 | c.3376G>T (p.Ala1126Ser) c.3622G>T (p.Ala1208Ser) | |
| 10 | g.104034765C= | CA1933418793 | COL17A1 | c.3376G= (p.Ala1126=) c.3622G= (p.Ala1208=) | |
| 10 | g.104034765C>G | CA378066180 | COL17A1 | c.3376G>C (p.Ala1126Pro) c.3622G>C (p.Ala1208Pro) | |
| 10 | g.104034765C>T | CA378066181 | COL17A1 | c.3376G>A (p.Ala1126Thr) c.3622G>A (p.Ala1208Thr) | dbSNP gnomAD v4 |
| 10 | g.104034766A= | CA1933418794 | COL17A1 | c.3375T= (p.Ala1125=) c.3621T= (p.Thr1207=) | |
| 10 | g.104034766A>C | CA471342056 | COL17A1 | c.3375T>G (p.Ala1125=) c.3621T>G (p.Thr1207=) | |
| 10 | g.104034766A>G | CA471342057 | COL17A1 | c.3375T>C (p.Ala1125=) c.3621T>C (p.Thr1207=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034766A>T | CA471342058 | COL17A1 | c.3375T>A (p.Ala1125=) c.3621T>A (p.Thr1207=) | |
| 10 | g.104034767G>A | CA378066182 | COL17A1 | c.3374C>T (p.Ala1125Val) c.3620C>T (p.Thr1207Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034767G>C | CA378066183 | COL17A1 | c.3374C>G (p.Ala1125Gly) c.3620C>G (p.Thr1207Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034767G= | CA1933418795 | COL17A1 | c.3374C= (p.Ala1125=) c.3620C= (p.Thr1207=) | |
| 10 | g.104034767G>T | CA378066184 | COL17A1 | c.3374C>A (p.Ala1125Asp) c.3620C>A (p.Thr1207Asn) | |
| 10 | g.104034768C>A | CA378066185 | COL17A1 | c.3374-1G>T (n.3374-1G>T) c.3620-1G>T (n.3620-1G>T) | |
| 10 | g.104034768C= | CA1933418796 | COL17A1 | c.3374-1G= (n.3374-1G=) c.3620-1G= (n.3620-1G=) | |
| 10 | g.104034768C>G | CA378066187 | COL17A1 | c.3374-1G>C (n.3374-1G>C) c.3620-1G>C (n.3620-1G>C) | ClinVar |
| 10 | g.104034768C>T | CA378066186 | COL17A1 | c.3374-1G>A (n.3374-1G>A) c.3620-1G>A (n.3620-1G>A) | dbSNP gnomAD v2 |
| 10 | g.104034769T>A | CA378066188 | COL17A1 | c.3374-2A>T (n.3374-2A>T) c.3620-2A>T (n.3620-2A>T) | dbSNP gnomAD v4 |
| 10 | g.104034769T>C | CA378066189 | COL17A1 | c.3374-2A>G (n.3374-2A>G) c.3620-2A>G (n.3620-2A>G) | |
| 10 | g.104034769T>G | CA378066190 | COL17A1 | c.3374-2A>C (n.3374-2A>C) c.3620-2A>C (n.3620-2A>C) | |
| 10 | g.104034769T= | CA1933418797 | COL17A1 | c.3374-2A= (n.3374-2A=) c.3620-2A= (n.3620-2A=) | |
| 10 | g.104034770G>T | CA2610796832 | COL17A1 | c.3374-3C>A (n.3374-3C>A) c.3620-3C>A (n.3620-3C>A) | gnomAD v4 |
| 10 | g.104034771G>A | CA659195006 | COL17A1 | c.3374-4C>T (n.3374-4C>T) c.3620-4C>T (n.3620-4C>T) | dbSNP |
| 10 | g.104034771G>C | CA2610796834 | COL17A1 | c.3374-4C>G (n.3374-4C>G) c.3620-4C>G (n.3620-4C>G) | gnomAD v4 |
| 10 | g.104034771G= | CA1933418798 | COL17A1 | c.3374-4C= (n.3374-4C=) c.3620-4C= (n.3620-4C=) | |
| 10 | g.104034772G>A | CA659195007 | COL17A1 | c.3374-5C>T (n.3374-5C>T) c.3620-5C>T (n.3620-5C>T) | dbSNP gnomAD v4 |
| 10 | g.104034772G= | CA1933418799 | COL17A1 | c.3374-5C= (n.3374-5C=) c.3620-5C= (n.3620-5C=) | |
| 10 | g.104034772G>T | CA1933418800 | COL17A1 | c.3374-5C>A (n.3374-5C>A) c.3620-5C>A (n.3620-5C>A) | dbSNP |
| 10 | g.104034773C>A | CA2610796840 | COL17A1 | c.3374-6G>T (n.3374-6G>T) c.3620-6G>T (n.3620-6G>T) | gnomAD v4 |
| 10 | g.104034773C= | CA1933418801 | COL17A1 | c.3374-6G= (n.3374-6G=) c.3620-6G= (n.3620-6G=) | |
| 10 | g.104034773C>G | CA2610796841 | COL17A1 | c.3374-6G>C (n.3374-6G>C) c.3620-6G>C (n.3620-6G>C) | gnomAD v4 |
| 10 | g.104034773C>T | CA5677876 | COL17A1 | c.3374-6G>A (n.3374-6G>A) c.3620-6G>A (n.3620-6G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034775G>T | CA2610796844 | COL17A1 | c.3374-8C>A (n.3374-8C>A) c.3620-8C>A (n.3620-8C>A) | gnomAD v4 |
| 10 | g.104034776A>C | CA2789320523 | COL17A1 | c.3374-9T>G (n.3374-9T>G) c.3620-9T>G (n.3620-9T>G) | |
| 10 | g.104034777A= | CA1933418802 | COL17A1 | c.3374-10T= (n.3374-10T=) c.3620-10T= (n.3620-10T=) | |
| 10 | g.104034777A>G | CA5677877 | COL17A1 | c.3374-10T>C (n.3374-10T>C) c.3620-10T>C (n.3620-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034778G>A | CA5677878 | COL17A1 | c.3374-11C>T (n.3374-11C>T) c.3620-11C>T (n.3620-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034778G= | CA1933418803 | COL17A1 | c.3374-11C= (n.3374-11C=) c.3620-11C= (n.3620-11C=) | |
| 10 | g.104034779G>A | CA212455940 | COL17A1 | c.3374-12C>T (n.3374-12C>T) c.3620-12C>T (n.3620-12C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034779G= | CA1933418804 | COL17A1 | c.3374-12C= (n.3374-12C=) c.3620-12C= (n.3620-12C=) | |
| 10 | g.104034779G>T | CA2610796856 | COL17A1 | c.3374-12C>A (n.3374-12C>A) c.3620-12C>A (n.3620-12C>A) | gnomAD v4 |
| 10 | g.104034782G>C | CA596111259 | COL17A1 | c.3374-15C>G (n.3374-15C>G) c.3620-15C>G (n.3620-15C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034782G= | CA1933418805 | COL17A1 | c.3374-15C= (n.3374-15C=) c.3620-15C= (n.3620-15C=) | |
| 10 | g.104034782G>T | CA2610796860 | COL17A1 | c.3374-15C>A (n.3374-15C>A) c.3620-15C>A (n.3620-15C>A) | gnomAD v4 |
| 10 | g.104034782_104034786delinsGAGAA | CA1933418806 | COL17A1 | c.3374-19_3374-15delinsTTCTC (n.3374-19_3374-15delinsTTCTC) c.3620-19_3620-15delinsTTCTC (n.3620-19_3620-15delinsTTCTC) | |
| 10 | g.104034783A= | CA1933418807 | COL17A1 | c.3374-16T= (n.3374-16T=) c.3620-16T= (n.3620-16T=) | |
| 10 | g.104034783A>G | CA2610796866 | COL17A1 | c.3374-16T>C (n.3374-16T>C) c.3620-16T>C (n.3620-16T>C) | gnomAD v4 |
| 10 | g.104034783A>T | CA1933418808 | COL17A1 | c.3374-16T>A (n.3374-16T>A) c.3620-16T>A (n.3620-16T>A) | dbSNP |
| 10 | g.104034789_104034792del | CA596111260 | COL17A1 | c.3374-19_3374-16del (n.3374-19_3374-16del) c.3620-19_3620-16del (n.3620-19_3620-16del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034784G>A | CA2610796874 | COL17A1 | c.3374-17C>T (n.3374-17C>T) c.3620-17C>T (n.3620-17C>T) | gnomAD v4 |
| 10 | g.104034784G>C | CA2610796872 | COL17A1 | c.3374-17C>G (n.3374-17C>G) c.3620-17C>G (n.3620-17C>G) | gnomAD v4 |
| 10 | g.104034786_104034787del | CA2574660687 | COL17A1 | c.3374-19_3374-18del (n.3374-19_3374-18del) c.3620-19_3620-18del (n.3620-19_3620-18del) | gnomAD v4 |
| 10 | g.104034786A= | CA1933418809 | COL17A1 | c.3374-19T= (n.3374-19T=) c.3620-19T= (n.3620-19T=) | |
| 10 | g.104034786A>G | CA596111261 | COL17A1 | c.3374-19T>C (n.3374-19T>C) c.3620-19T>C (n.3620-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034787A= | CA1933418810 | COL17A1 | c.3374-20T= (n.3374-20T=) c.3620-20T= (n.3620-20T=) | |
| 10 | g.104034787A>G | CA5677879 | COL17A1 | c.3374-20T>C (n.3374-20T>C) c.3620-20T>C (n.3620-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034788G>C | CA1933418812 | COL17A1 | c.3374-21C>G (n.3374-21C>G) c.3620-21C>G (n.3620-21C>G) | dbSNP |
| 10 | g.104034788G= | CA1933418811 | COL17A1 | c.3374-21C= (n.3374-21C=) c.3620-21C= (n.3620-21C=) | |
| 10 | g.104034788G>T | CA2610796881 | COL17A1 | c.3374-21C>A (n.3374-21C>A) c.3620-21C>A (n.3620-21C>A) | gnomAD v4 |
| 10 | g.104034789A= | CA1933418813 | COL17A1 | c.3374-22T= (n.3374-22T=) c.3620-22T= (n.3620-22T=) | |
| 10 | g.104034789A>C | CA2499220144 | COL17A1 | c.3374-22T>G (n.3374-22T>G) c.3620-22T>G (n.3620-22T>G) | ClinVar dbSNP |
| 10 | g.104034789A>G | CA5677880 | COL17A1 | c.3374-22T>C (n.3374-22T>C) c.3620-22T>C (n.3620-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034790A= | CA1933418814 | COL17A1 | c.3374-23T= (n.3374-23T=) c.3620-23T= (n.3620-23T=) | |
| 10 | g.104034790A>G | CA212455944 | COL17A1 | c.3374-23T>C (n.3374-23T>C) c.3620-23T>C (n.3620-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034790A>T | CA1933418815 | COL17A1 | c.3374-23T>A (n.3374-23T>A) c.3620-23T>A (n.3620-23T>A) | dbSNP |
| 10 | g.104034791A= | CA1933418817 | COL17A1 | c.3374-24T= (n.3374-24T=) c.3620-24T= (n.3620-24T=) | |
| 10 | g.104034791A>C | CA1933418818 | COL17A1 | c.3374-24T>G (n.3374-24T>G) c.3620-24T>G (n.3620-24T>G) | dbSNP |
| 10 | g.104034791A>T | CA1933418816 | COL17A1 | c.3374-24T>A (n.3374-24T>A) c.3620-24T>A (n.3620-24T>A) | dbSNP |
| 10 | g.104034792G>A | CA1933418820 | COL17A1 | c.3374-25C>T (n.3374-25C>T) c.3620-25C>T (n.3620-25C>T) | dbSNP |
| 10 | g.104034792G= | CA1933418819 | COL17A1 | c.3374-25C= (n.3374-25C=) c.3620-25C= (n.3620-25C=) | |
| 10 | g.104034792_104034795delinsGGTC | CA1933418821 | COL17A1 | c.3374-28_3374-25delinsGACC (n.3374-28_3374-25delinsGACC) c.3620-28_3620-25delinsGACC (n.3620-28_3620-25delinsGACC) | |
| 10 | g.104034793G>C | CA659195015 | COL17A1 | c.3374-26C>G (n.3374-26C>G) c.3620-26C>G (n.3620-26C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034793G= | CA1933418823 | COL17A1 | c.3374-26C= (n.3374-26C=) c.3620-26C= (n.3620-26C=) | |
| 10 | g.104034794_104034796del | CA1933418822 | COL17A1 | c.3374-28_3374-26del (n.3374-28_3374-26del) c.3620-28_3620-26del (n.3620-28_3620-26del) | dbSNP gnomAD v4 |
| 10 | g.104034794T>C | CA596111262 | COL17A1 | c.3374-27A>G (n.3374-27A>G) c.3620-27A>G (n.3620-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034794T= | CA1933418824 | COL17A1 | c.3374-27A= (n.3374-27A=) c.3620-27A= (n.3620-27A=) | |
| 10 | g.104034795C>A | CA2610796894 | COL17A1 | c.3374-28G>T (n.3374-28G>T) c.3620-28G>T (n.3620-28G>T) | gnomAD v4 |
| 10 | g.104034795C= | CA1933418825 | COL17A1 | c.3374-28G= (n.3374-28G=) c.3620-28G= (n.3620-28G=) | |
| 10 | g.104034795C>T | CA5677881 | COL17A1 | c.3374-28G>A (n.3374-28G>A) c.3620-28G>A (n.3620-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034795_104034797dup | CA2574660688 | COL17A1 | c.3374-30_3374-28dup (n.3374-30_3374-28dup) c.3620-30_3620-28dup (n.3620-30_3620-28dup) | |
| 10 | g.104034796G>A | CA932062466 | COL17A1 | c.3374-29C>T (n.3374-29C>T) c.3620-29C>T (n.3620-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034796G= | CA1933418826 | COL17A1 | c.3374-29C= (n.3374-29C=) c.3620-29C= (n.3620-29C=) | |
| 10 | g.104034796G>T | CA2610796902 | COL17A1 | c.3374-29C>A (n.3374-29C>A) c.3620-29C>A (n.3620-29C>A) | gnomAD v4 |
| 10 | g.104034797G>T | CA2610796906 | COL17A1 | c.3374-30C>A (n.3374-30C>A) c.3620-30C>A (n.3620-30C>A) | gnomAD v4 |
| 10 | g.104034798G>A | CA596111263 | COL17A1 | c.3374-31C>T (n.3374-31C>T) c.3620-31C>T (n.3620-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034798G>C | CA596111264 | COL17A1 | c.3374-31C>G (n.3374-31C>G) c.3620-31C>G (n.3620-31C>G) | dbSNP gnomAD v2 |
| 10 | g.104034798G= | CA1933418827 | COL17A1 | c.3374-31C= (n.3374-31C=) c.3620-31C= (n.3620-31C=) | |
| 10 | g.104034799G>A | CA5677882 | COL17A1 | c.3374-32C>T (n.3374-32C>T) c.3620-32C>T (n.3620-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034799G= | CA1933418828 | COL17A1 | c.3374-32C= (n.3374-32C=) c.3620-32C= (n.3620-32C=) | |
| 10 | g.104034799G>T | CA1933418829 | COL17A1 | c.3374-32C>A (n.3374-32C>A) c.3620-32C>A (n.3620-32C>A) | dbSNP |
| 10 | g.104034800T>C | CA1933418830 | COL17A1 | c.3374-33A>G (n.3374-33A>G) c.3620-33A>G (n.3620-33A>G) | dbSNP gnomAD v4 |
| 10 | g.104034800T>G | CA932062469 | COL17A1 | c.3374-33A>C (n.3374-33A>C) c.3620-33A>C (n.3620-33A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034800T= | CA1933418831 | COL17A1 | c.3374-33A= (n.3374-33A=) c.3620-33A= (n.3620-33A=) | |
| 10 | g.104034801A>G | CA2574660689 | COL17A1 | c.3374-34T>C (n.3374-34T>C) c.3620-34T>C (n.3620-34T>C) | |
| 10 | g.104034802G>A | CA2574660690 | COL17A1 | c.3374-35C>T (n.3374-35C>T) c.3620-35C>T (n.3620-35C>T) | |
| 10 | g.104034802G>C | CA2610796917 | COL17A1 | c.3374-35C>G (n.3374-35C>G) c.3620-35C>G (n.3620-35C>G) | gnomAD v4 |
| 10 | g.104034802G= | CA1933418832 | COL17A1 | c.3374-35C= (n.3374-35C=) c.3620-35C= (n.3620-35C=) | |
| 10 | g.104034802G>T | CA5677883 | COL17A1 | c.3374-35C>A (n.3374-35C>A) c.3620-35C>A (n.3620-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034803T>C | CA2574660691 | COL17A1 | c.3374-36A>G (n.3374-36A>G) c.3620-36A>G (n.3620-36A>G) | gnomAD v4 |
| 10 | g.104034805C>A | CA2610796921 | COL17A1 | c.3374-38G>T (n.3374-38G>T) c.3620-38G>T (n.3620-38G>T) | gnomAD v4 |
| 10 | g.104034805C>G | CA2610796922 | COL17A1 | c.3374-38G>C (n.3374-38G>C) c.3620-38G>C (n.3620-38G>C) | gnomAD v4 |
| 10 | g.104034807G>A | CA2574660692 | COL17A1 | c.3374-40C>T (n.3374-40C>T) c.3620-40C>T (n.3620-40C>T) | gnomAD v4 |
| 10 | g.104034807G= | CA1933418833 | COL17A1 | c.3374-40C= (n.3374-40C=) c.3620-40C= (n.3620-40C=) | |
| 10 | g.104034807G>T | CA596111265 | COL17A1 | c.3374-40C>A (n.3374-40C>A) c.3620-40C>A (n.3620-40C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034808C>A | CA2610796924 | COL17A1 | c.3374-41G>T (n.3374-41G>T) c.3620-41G>T (n.3620-41G>T) | gnomAD v4 |
| 10 | g.104034808C= | CA1933418834 | COL17A1 | c.3374-41G= (n.3374-41G=) c.3620-41G= (n.3620-41G=) | |
| 10 | g.104034808C>T | CA5677884 | COL17A1 | c.3374-41G>A (n.3374-41G>A) c.3620-41G>A (n.3620-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034809G>A | CA5677885 | COL17A1 | c.3374-42C>T (n.3374-42C>T) c.3620-42C>T (n.3620-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034809G= | CA1933418835 | COL17A1 | c.3374-42C= (n.3374-42C=) c.3620-42C= (n.3620-42C=) | |
| 10 | g.104034811A>C | CA2610796928 | COL17A1 | c.3374-44T>G (n.3374-44T>G) c.3620-44T>G (n.3620-44T>G) | gnomAD v4 |
| 10 | g.104034813G>A | CA2557491709 | COL17A1 | c.3374-46C>T (n.3374-46C>T) c.3620-46C>T (n.3620-46C>T) | gnomAD v4 |
| 10 | g.104034813G>T | CA2610796931 | COL17A1 | c.3374-46C>A (n.3374-46C>A) c.3620-46C>A (n.3620-46C>A) | gnomAD v4 |
| 10 | g.104034816G>A | CA1933418836 | COL17A1 | c.3374-49C>T (n.3374-49C>T) c.3620-49C>T (n.3620-49C>T) | dbSNP |
| 10 | g.104034816G= | CA1933418837 | COL17A1 | c.3374-49C= (n.3374-49C=) c.3620-49C= (n.3620-49C=) | |
| 10 | g.104034816G>T | CA5677886 | COL17A1 | c.3374-49C>A (n.3374-49C>A) c.3620-49C>A (n.3620-49C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034817C>A | CA2610796933 | COL17A1 | c.3374-50G>T (n.3374-50G>T) c.3620-50G>T (n.3620-50G>T) | gnomAD v4 |
| 10 | g.104034817C= | CA1933418838 | COL17A1 | c.3374-50G= (n.3374-50G=) c.3620-50G= (n.3620-50G=) | |
| 10 | g.104034817C>G | CA596111266 | COL17A1 | c.3374-50G>C (n.3374-50G>C) c.3620-50G>C (n.3620-50G>C) | dbSNP gnomAD v2 gnomAD v4 |