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.104037697G>A | CA471343804 | COL17A1 | c.3012C>T (p.Thr1004=) c.3147C>T (p.Thr1049=) | |
| 10 | g.104037697G>C | CA471343805 | COL17A1 | c.3012C>G (p.Thr1004=) c.3147C>G (p.Thr1049=) | |
| 10 | g.104037697G>T | CA471343808 | COL17A1 | c.3012C>A (p.Thr1004=) c.3147C>A (p.Thr1049=) | |
| 10 | g.104037698G>A | CA378067205 | COL17A1 | c.3011C>T (p.Thr1004Ile) c.3146C>T (p.Thr1049Ile) | gnomAD v4 |
| 10 | g.104037698G>C | CA378067206 | COL17A1 | c.3011C>G (p.Thr1004Ser) c.3146C>G (p.Thr1049Ser) | gnomAD v4 |
| 10 | g.104037698G>T | CA378067207 | COL17A1 | c.3011C>A (p.Thr1004Asn) c.3146C>A (p.Thr1049Asn) | |
| 10 | g.104037698_104037699insGTGTGTT | CA2789321282 | COL17A1 | c.3010_3011insAACACAC (p.Thr1004LysfsTer?) c.3145_3146insAACACAC (p.Thr1049LysfsTer?) | |
| 10 | g.104037699T>A | CA378067209 | COL17A1 | c.3010A>T (p.Thr1004Ser) c.3145A>T (p.Thr1049Ser) | |
| 10 | g.104037699T>C | CA378067210 | COL17A1 | c.3010A>G (p.Thr1004Ala) c.3145A>G (p.Thr1049Ala) | |
| 10 | g.104037699T>G | CA378067208 | COL17A1 | c.3010A>C (p.Thr1004Pro) c.3145A>C (p.Thr1049Pro) | |
| 10 | g.104037700G>A | CA471343819 | COL17A1 | c.3009C>T (p.Thr1003=) c.3144C>T (p.Thr1048=) | ClinVar dbSNP |
| 10 | g.104037700G>C | CA471343821 | COL17A1 | c.3009C>G (p.Thr1003=) c.3144C>G (p.Thr1048=) | |
| 10 | g.104037700G= | CA1933420779 | COL17A1 | c.3009C= (p.Thr1003=) c.3144C= (p.Thr1048=) | |
| 10 | g.104037700G>T | CA471343823 | COL17A1 | c.3009C>A (p.Thr1003=) c.3144C>A (p.Thr1048=) | |
| 10 | g.104037701G>A | CA378067213 | COL17A1 | c.3008C>T (p.Thr1003Ile) c.3143C>T (p.Thr1048Ile) | |
| 10 | g.104037701G>C | CA378067211 | COL17A1 | c.3008C>G (p.Thr1003Ser) c.3143C>G (p.Thr1048Ser) | |
| 10 | g.104037701G>T | CA378067212 | COL17A1 | c.3008C>A (p.Thr1003Asn) c.3143C>A (p.Thr1048Asn) | |
| 10 | g.104037702T>A | CA378067214 | COL17A1 | c.3007A>T (p.Thr1003Ser) c.3142A>T (p.Thr1048Ser) | |
| 10 | g.104037702T>C | CA378067215 | COL17A1 | c.3007A>G (p.Thr1003Ala) c.3142A>G (p.Thr1048Ala) | |
| 10 | g.104037702T>G | CA378067216 | COL17A1 | c.3007A>C (p.Thr1003Pro) c.3142A>C (p.Thr1048Pro) | |
| 10 | g.104037703G>A | CA471343838 | COL17A1 | c.3006C>T (p.Val1002=) c.3141C>T (p.Val1047=) | |
| 10 | g.104037703G>C | CA471343833 | COL17A1 | c.3006C>G (p.Val1002=) c.3141C>G (p.Val1047=) | |
| 10 | g.104037703G>T | CA471343835 | COL17A1 | c.3006C>A (p.Val1002=) c.3141C>A (p.Val1047=) | |
| 10 | g.104037704A>C | CA378067217 | COL17A1 | c.3005T>G (p.Val1002Gly) c.3140T>G (p.Val1047Gly) | |
| 10 | g.104037704A>G | CA378067218 | COL17A1 | c.3005T>C (p.Val1002Ala) c.3140T>C (p.Val1047Ala) | |
| 10 | g.104037704A>T | CA378067219 | COL17A1 | c.3005T>A (p.Val1002Asp) c.3140T>A (p.Val1047Asp) | |
| 10 | g.104037705C>A | CA378067220 | COL17A1 | c.3004G>T (p.Val1002Phe) c.3139G>T (p.Val1047Phe) | gnomAD v4 |
| 10 | g.104037705C>G | CA378067221 | COL17A1 | c.3004G>C (p.Val1002Leu) c.3139G>C (p.Val1047Leu) | |
| 10 | g.104037705C>T | CA378067222 | COL17A1 | c.3004G>A (p.Val1002Ile) c.3139G>A (p.Val1047Ile) | gnomAD v4 |
| 10 | g.104037706A>C | CA471343850 | COL17A1 | c.3003T>G (p.Pro1001=) c.3138T>G (p.Pro1046=) | |
| 10 | g.104037706A>G | CA471343852 | COL17A1 | c.3003T>C (p.Pro1001=) c.3138T>C (p.Pro1046=) | |
| 10 | g.104037706A>T | CA471343854 | COL17A1 | c.3003T>A (p.Pro1001=) c.3138T>A (p.Pro1046=) | |
| 10 | g.104037707G>A | CA378067225 | COL17A1 | c.3002C>T (p.Pro1001Leu) c.3137C>T (p.Pro1046Leu) | |
| 10 | g.104037707G>C | CA378067224 | COL17A1 | c.3002C>G (p.Pro1001Arg) c.3137C>G (p.Pro1046Arg) | dbSNP |
| 10 | g.104037707G= | CA1933420780 | COL17A1 | c.3002C= (p.Pro1001=) c.3137C= (p.Pro1046=) | |
| 10 | g.104037707G>T | CA378067223 | COL17A1 | c.3002C>A (p.Pro1001His) c.3137C>A (p.Pro1046His) | |
| 10 | g.104037708G>A | CA378067226 | COL17A1 | c.3001C>T (p.Pro1001Ser) c.3136C>T (p.Pro1046Ser) | gnomAD v4 |
| 10 | g.104037708G>C | CA378067227 | COL17A1 | c.3001C>G (p.Pro1001Ala) c.3136C>G (p.Pro1046Ala) | |
| 10 | g.104037708G>T | CA378067228 | COL17A1 | c.3001C>A (p.Pro1001Thr) c.3136C>A (p.Pro1046Thr) | |
| 10 | g.104037709T>A | CA471343866 | COL17A1 | c.3000A>T (p.Gly1000=) c.3135A>T (p.Gly1045=) | |
| 10 | g.104037709T>C | CA471343868 | COL17A1 | c.3000A>G (p.Gly1000=) c.3135A>G (p.Gly1045=) | |
| 10 | g.104037709T>G | CA471343867 | COL17A1 | c.3000A>C (p.Gly1000=) c.3135A>C (p.Gly1045=) | gnomAD v4 |
| 10 | g.104037709_104037727delinsTCCTGGGGGACCAGGTGGG | CA1933420781 | COL17A1 | c.2982_3000delinsCCCACCTGGTCCCCCAGGA (p.Gly994=) c.3117_3135delinsCCCACCTGGTCCCCCAGGA (p.Gly1039=) | |
| 10 | g.104037710C>A | CA378067229 | COL17A1 | c.2999G>T (p.Gly1000Val) c.3134G>T (p.Gly1045Val) | |
| 10 | g.104037710C= | CA1933420782 | COL17A1 | c.2999G= (p.Gly1000=) c.3134G= (p.Gly1045=) | |
| 10 | g.104037710C>G | CA378067230 | COL17A1 | c.2999G>C (p.Gly1000Ala) c.3134G>C (p.Gly1045Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037710C>T | CA212458566 | COL17A1 | c.2999G>A (p.Gly1000Glu) c.3134G>A (p.Gly1045Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037721_104037738dup | CA2610800485 | COL17A1 | c.2982_2999dup (p.Gly1000_Pro1001insProProGlyProProGly) c.3117_3134dup (p.Gly1045_Pro1046insProProGlyProProGly) | gnomAD v4 |
| 10 | g.104037721_104037738del | CA212458572 | COL17A1 | c.2982_2999del (p.Pro995_Gly1000del) c.3117_3134del (p.Pro1040_Gly1045del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037711C>A | CA378067231 | COL17A1 | c.2998G>T (p.Gly1000Ter) c.3133G>T (p.Gly1045Ter) | |
| 10 | g.104037711C>G | CA378067232 | COL17A1 | c.2998G>C (p.Gly1000Arg) c.3133G>C (p.Gly1045Arg) | |
| 10 | g.104037711C>T | CA378067233 | COL17A1 | c.2998G>A (p.Gly1000Arg) c.3133G>A (p.Gly1045Arg) | |
| 10 | g.104037712T>A | CA471343883 | COL17A1 | c.2997A>T (p.Pro999=) c.3132A>T (p.Pro1044=) | |
| 10 | g.104037712T>C | CA471343879 | COL17A1 | c.2997A>G (p.Pro999=) c.3132A>G (p.Pro1044=) | ClinVar gnomAD v4 |
| 10 | g.104037712T>G | CA471343881 | COL17A1 | c.2997A>C (p.Pro999=) c.3132A>C (p.Pro1044=) | |
| 10 | g.104037713G>A | CA378067234 | COL17A1 | c.2996C>T (p.Pro999Leu) c.3131C>T (p.Pro1044Leu) | gnomAD v4 |
| 10 | g.104037713G>C | CA378067235 | COL17A1 | c.2996C>G (p.Pro999Arg) c.3131C>G (p.Pro1044Arg) | |
| 10 | g.104037713G= | CA1933420783 | COL17A1 | c.2996C= (p.Pro999=) c.3131C= (p.Pro1044=) | |
| 10 | g.104037713G>T | CA378067236 | COL17A1 | c.2996C>A (p.Pro999Gln) c.3131C>A (p.Pro1044Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037717del | CA2610800499 | COL17A1 | c.2996del (p.Pro999GlnfsTer22) c.3131del (p.Pro1044GlnfsTer22) | gnomAD v4 |
| 10 | g.104037714G>A | CA378067239 | COL17A1 | c.2995C>T (p.Pro999Ser) c.3130C>T (p.Pro1044Ser) | |
| 10 | g.104037714G>C | CA378067238 | COL17A1 | c.2995C>G (p.Pro999Ala) c.3130C>G (p.Pro1044Ala) | |
| 10 | g.104037714G>T | CA378067237 | COL17A1 | c.2995C>A (p.Pro999Thr) c.3130C>A (p.Pro1044Thr) | |
| 10 | g.104037715G>A | CA5678085 | COL17A1 | c.2994C>T (p.Pro998=) c.3129C>T (p.Pro1043=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037715G>C | CA5678084 | COL17A1 | c.2994C>G (p.Pro998=) c.3129C>G (p.Pro1043=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037715G= | CA1933420784 | COL17A1 | c.2994C= (p.Pro998=) c.3129C= (p.Pro1043=) | |
| 10 | g.104037715G>T | CA5678086 | COL17A1 | c.2994C>A (p.Pro998=) c.3129C>A (p.Pro1043=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037716G>A | CA378067240 | COL17A1 | c.2993C>T (p.Pro998Leu) c.3128C>T (p.Pro1043Leu) | |
| 10 | g.104037716G>C | CA378067241 | COL17A1 | c.2993C>G (p.Pro998Arg) c.3128C>G (p.Pro1043Arg) | |
| 10 | g.104037716G>T | CA378067242 | COL17A1 | c.2993C>A (p.Pro998His) c.3128C>A (p.Pro1043His) | |
| 10 | g.104037717G>A | CA378067245 | COL17A1 | c.2992C>T (p.Pro998Ser) c.3127C>T (p.Pro1043Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037717G>C | CA378067244 | COL17A1 | c.2992C>G (p.Pro998Ala) c.3127C>G (p.Pro1043Ala) | |
| 10 | g.104037717G= | CA1933420785 | COL17A1 | c.2992C= (p.Pro998=) c.3127C= (p.Pro1043=) | |
| 10 | g.104037717G>T | CA378067243 | COL17A1 | c.2992C>A (p.Pro998Thr) c.3127C>A (p.Pro1043Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037718A>C | CA471343906 | COL17A1 | c.2991T>G (p.Gly997=) c.3126T>G (p.Gly1042=) | |
| 10 | g.104037718A>G | CA471343911 | COL17A1 | c.2991T>C (p.Gly997=) c.3126T>C (p.Gly1042=) | |
| 10 | g.104037718A>T | CA471343912 | COL17A1 | c.2991T>A (p.Gly997=) c.3126T>A (p.Gly1042=) | |
| 10 | g.104037719C>A | CA378067246 | COL17A1 | c.2990G>T (p.Gly997Val) c.3125G>T (p.Gly1042Val) | |
| 10 | g.104037719C>G | CA378067247 | COL17A1 | c.2990G>C (p.Gly997Ala) c.3125G>C (p.Gly1042Ala) | |
| 10 | g.104037719C>T | CA378067248 | COL17A1 | c.2990G>A (p.Gly997Asp) c.3125G>A (p.Gly1042Asp) | |
| 10 | g.104037720C>A | CA378067249 | COL17A1 | c.2989G>T (p.Gly997Cys) c.3124G>T (p.Gly1042Cys) | |
| 10 | g.104037720C>G | CA378067250 | COL17A1 | c.2989G>C (p.Gly997Arg) c.3124G>C (p.Gly1042Arg) | |
| 10 | g.104037720C>T | CA378067251 | COL17A1 | c.2989G>A (p.Gly997Ser) c.3124G>A (p.Gly1042Ser) | gnomAD v4 |
| 10 | g.104037721A>C | CA471343925 | COL17A1 | c.2988T>G (p.Pro996=) c.3123T>G (p.Pro1041=) | |
| 10 | g.104037721A>G | CA471343926 | COL17A1 | c.2988T>C (p.Pro996=) c.3123T>C (p.Pro1041=) | |
| 10 | g.104037721A>T | CA471343928 | COL17A1 | c.2988T>A (p.Pro996=) c.3123T>A (p.Pro1041=) | |
| 10 | g.104037722G>A | CA378067252 | COL17A1 | c.2987C>T (p.Pro996Leu) c.3122C>T (p.Pro1041Leu) | |
| 10 | g.104037722G>C | CA378067254 | COL17A1 | c.2987C>G (p.Pro996Arg) c.3122C>G (p.Pro1041Arg) | |
| 10 | g.104037722G>T | CA378067253 | COL17A1 | c.2987C>A (p.Pro996His) c.3122C>A (p.Pro1041His) | gnomAD v4 |
| 10 | g.104037723G>A | CA378067255 | COL17A1 | c.2986C>T (p.Pro996Ser) c.3121C>T (p.Pro1041Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037723G>C | CA378067256 | COL17A1 | c.2986C>G (p.Pro996Ala) c.3121C>G (p.Pro1041Ala) | |
| 10 | g.104037723G= | CA1933420786 | COL17A1 | c.2986C= (p.Pro996=) c.3121C= (p.Pro1041=) | |
| 10 | g.104037723G>T | CA212458592 | COL17A1 | c.2986C>A (p.Pro996Thr) c.3121C>A (p.Pro1041Thr) | dbSNP gnomAD v4 |
| 10 | g.104037724T>A | CA471343936 | COL17A1 | c.2985A>T (p.Pro995=) c.3120A>T (p.Pro1040=) | |
| 10 | g.104037724T>C | CA471343938 | COL17A1 | c.2985A>G (p.Pro995=) c.3120A>G (p.Pro1040=) | |
| 10 | g.104037724T>G | CA471343940 | COL17A1 | c.2985A>C (p.Pro995=) c.3120A>C (p.Pro1040=) | gnomAD v4 |
| 10 | g.104037725G>A | CA378067257 | COL17A1 | c.2984C>T (p.Pro995Leu) c.3119C>T (p.Pro1040Leu) | |
| 10 | g.104037725G>C | CA378067258 | COL17A1 | c.2984C>G (p.Pro995Arg) c.3119C>G (p.Pro1040Arg) | |
| 10 | g.104037725G>T | CA378067259 | COL17A1 | c.2984C>A (p.Pro995Gln) c.3119C>A (p.Pro1040Gln) | |
| 10 | g.104037726G>A | CA5678087 | COL17A1 | c.2983C>T (p.Pro995Ser) c.3118C>T (p.Pro1040Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037726G>C | CA378067260 | COL17A1 | c.2983C>G (p.Pro995Ala) c.3118C>G (p.Pro1040Ala) | gnomAD v4 |
| 10 | g.104037726G= | CA1933420787 | COL17A1 | c.2983C= (p.Pro995=) c.3118C= (p.Pro1040=) | |
| 10 | g.104037726G>T | CA378067261 | COL17A1 | c.2983C>A (p.Pro995Thr) c.3118C>A (p.Pro1040Thr) | |
| 10 | g.104037727G>A | CA471343952 | COL17A1 | c.2982C>T (p.Gly994=) c.3117C>T (p.Gly1039=) | |
| 10 | g.104037727G>C | CA471343965 | COL17A1 | c.2982C>G (p.Gly994=) c.3117C>G (p.Gly1039=) | |
| 10 | g.104037727G>T | CA471343967 | COL17A1 | c.2982C>A (p.Gly994=) c.3117C>A (p.Gly1039=) | |
| 10 | g.104037728C>A | CA378067262 | COL17A1 | c.2981G>T (p.Gly994Val) c.3116G>T (p.Gly1039Val) | |
| 10 | g.104037728C>G | CA378067263 | COL17A1 | c.2981G>C (p.Gly994Ala) c.3116G>C (p.Gly1039Ala) | |
| 10 | g.104037728C>T | CA378067264 | COL17A1 | c.2981G>A (p.Gly994Asp) c.3116G>A (p.Gly1039Asp) | |
| 10 | g.104037729C>A | CA378067266 | COL17A1 | c.2980G>T (p.Gly994Cys) c.3115G>T (p.Gly1039Cys) | |
| 10 | g.104037729C>G | CA378067267 | COL17A1 | c.2980G>C (p.Gly994Arg) c.3115G>C (p.Gly1039Arg) | |
| 10 | g.104037729C>T | CA378067265 | COL17A1 | c.2980G>A (p.Gly994Ser) c.3115G>A (p.Gly1039Ser) | |
| 10 | g.104037730T>A | CA471343976 | COL17A1 | c.2979A>T (p.Pro993=) c.3114A>T (p.Pro1038=) | |
| 10 | g.104037730T>C | CA471343980 | COL17A1 | c.2979A>G (p.Pro993=) c.3114A>G (p.Pro1038=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037730T>G | CA471343978 | COL17A1 | c.2979A>C (p.Pro993=) c.3114A>C (p.Pro1038=) | |
| 10 | g.104037730T= | CA1933420788 | COL17A1 | c.2979A= (p.Pro993=) c.3114A= (p.Pro1038=) | |
| 10 | g.104037731G>A | CA378067268 | COL17A1 | c.2978C>T (p.Pro993Leu) c.3113C>T (p.Pro1038Leu) | |
| 10 | g.104037731G>C | CA378067269 | COL17A1 | c.2978C>G (p.Pro993Arg) c.3113C>G (p.Pro1038Arg) | dbSNP |
| 10 | g.104037731G= | CA1933420789 | COL17A1 | c.2978C= (p.Pro993=) c.3113C= (p.Pro1038=) | |
| 10 | g.104037731G>T | CA378067270 | COL17A1 | c.2978C>A (p.Pro993Gln) c.3113C>A (p.Pro1038Gln) | gnomAD v4 |
| 10 | g.104037735del | CA2610800606 | COL17A1 | c.2978del (p.Pro993GlnfsTer28) c.3113del (p.Pro1038GlnfsTer28) | gnomAD v4 |
| 10 | g.104037732G>A | CA378067271 | COL17A1 | c.2977C>T (p.Pro993Ser) c.3112C>T (p.Pro1038Ser) | |
| 10 | g.104037732G>C | CA378067272 | COL17A1 | c.2977C>G (p.Pro993Ala) c.3112C>G (p.Pro1038Ala) | |
| 10 | g.104037732G>T | CA378067273 | COL17A1 | c.2977C>A (p.Pro993Thr) c.3112C>A (p.Pro1038Thr) | |
| 10 | g.104037733G>A | CA471343989 | COL17A1 | c.2976C>T (p.Pro992=) c.3111C>T (p.Pro1037=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037733G>C | CA471343991 | COL17A1 | c.2976C>G (p.Pro992=) c.3111C>G (p.Pro1037=) | |
| 10 | g.104037733G= | CA1933420790 | COL17A1 | c.2976C= (p.Pro992=) c.3111C= (p.Pro1037=) | |
| 10 | g.104037733G>T | CA471343993 | COL17A1 | c.2976C>A (p.Pro992=) c.3111C>A (p.Pro1037=) | COSMIC |
| 10 | g.104037733_104037736del | CA2610800611 | COL17A1 | c.2973_2976del (p.Pro992GlnfsTer28) c.3108_3111del (p.Pro1037GlnfsTer28) | gnomAD v4 |
| 10 | g.104037734G>A | CA378067276 | COL17A1 | c.2975C>T (p.Pro992Leu) c.3110C>T (p.Pro1037Leu) | |
| 10 | g.104037734G>C | CA378067275 | COL17A1 | c.2975C>G (p.Pro992Arg) c.3110C>G (p.Pro1037Arg) | |
| 10 | g.104037734G>T | CA378067274 | COL17A1 | c.2975C>A (p.Pro992His) c.3110C>A (p.Pro1037His) | |
| 10 | g.104037735G>A | CA378067277 | COL17A1 | c.2974C>T (p.Pro992Ser) c.3109C>T (p.Pro1037Ser) | gnomAD v4 |
| 10 | g.104037735G>C | CA378067278 | COL17A1 | c.2974C>G (p.Pro992Ala) c.3109C>G (p.Pro1037Ala) | |
| 10 | g.104037735G= | CA1933420791 | COL17A1 | c.2974C= (p.Pro992=) c.3109C= (p.Pro1037=) | |
| 10 | g.104037735G>T | CA5678088 | COL17A1 | c.2974C>A (p.Pro992Thr) c.3109C>A (p.Pro1037Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037736A>C | CA471344007 | COL17A1 | c.2973T>G (p.Gly991=) c.3108T>G (p.Gly1036=) | |
| 10 | g.104037736A>G | CA471344011 | COL17A1 | c.2973T>C (p.Gly991=) c.3108T>C (p.Gly1036=) | |
| 10 | g.104037736A>T | CA471344008 | COL17A1 | c.2973T>A (p.Gly991=) c.3108T>A (p.Gly1036=) | |
| 10 | g.104037737C>A | CA378067279 | COL17A1 | c.2972G>T (p.Gly991Val) c.3107G>T (p.Gly1036Val) | gnomAD v4 |
| 10 | g.104037737C>G | CA378067280 | COL17A1 | c.2972G>C (p.Gly991Ala) c.3107G>C (p.Gly1036Ala) | |
| 10 | g.104037737C>T | CA378067281 | COL17A1 | c.2972G>A (p.Gly991Asp) c.3107G>A (p.Gly1036Asp) | |
| 10 | g.104037738C>A | CA378067282 | COL17A1 | c.2971G>T (p.Gly991Cys) c.3106G>T (p.Gly1036Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037738C= | CA1933420792 | COL17A1 | c.2971G= (p.Gly991=) c.3106G= (p.Gly1036=) | |
| 10 | g.104037738C>G | CA378067284 | COL17A1 | c.2971G>C (p.Gly991Arg) c.3106G>C (p.Gly1036Arg) | dbSNP gnomAD v4 |
| 10 | g.104037738C>T | CA378067283 | COL17A1 | c.2971G>A (p.Gly991Ser) c.3106G>A (p.Gly1036Ser) | dbSNP |
| 10 | g.104037739C>A | CA378067285 | COL17A1 | c.2970G>T (p.Gln990His) c.3105G>T (p.Gln1035His) | |
| 10 | g.104037739C>G | CA378067286 | COL17A1 | c.2970G>C (p.Gln990His) c.3105G>C (p.Gln1035His) | |
| 10 | g.104037739C>T | CA471344026 | COL17A1 | c.2970G>A (p.Gln990=) c.3105G>A (p.Gln1035=) | |
| 10 | g.104037740T>A | CA378067287 | COL17A1 | c.2969A>T (p.Gln990Leu) c.3104A>T (p.Gln1035Leu) | gnomAD v4 |
| 10 | g.104037740T>C | CA378067288 | COL17A1 | c.2969A>G (p.Gln990Arg) c.3104A>G (p.Gln1035Arg) | dbSNP |
| 10 | g.104037740T>G | CA378067289 | COL17A1 | c.2969A>C (p.Gln990Pro) c.3104A>C (p.Gln1035Pro) | |
| 10 | g.104037740T= | CA1933420793 | COL17A1 | c.2969A= (p.Gln990=) c.3104A= (p.Gln1035=) | |
| 10 | g.104037741G>A | CA378067290 | COL17A1 | c.2968C>T (p.Gln990Ter) c.3103C>T (p.Gln1035Ter) | |
| 10 | g.104037741G>C | CA378067291 | COL17A1 | c.2968C>G (p.Gln990Glu) c.3103C>G (p.Gln1035Glu) | |
| 10 | g.104037741G>T | CA378067292 | COL17A1 | c.2968C>A (p.Gln990Lys) c.3103C>A (p.Gln1035Lys) | |
| 10 | g.104037742A>C | CA471344039 | COL17A1 | c.2967T>G (p.Val989=) c.3102T>G (p.Val1034=) | |
| 10 | g.104037742A>G | CA471344041 | COL17A1 | c.2967T>C (p.Val989=) c.3102T>C (p.Val1034=) | |
| 10 | g.104037742A>T | CA471344043 | COL17A1 | c.2967T>A (p.Val989=) c.3102T>A (p.Val1034=) | |
| 10 | g.104037743A>C | CA378067293 | COL17A1 | c.2966T>G (p.Val989Gly) c.3101T>G (p.Val1034Gly) | |
| 10 | g.104037743A>G | CA378067294 | COL17A1 | c.2966T>C (p.Val989Ala) c.3101T>C (p.Val1034Ala) | |
| 10 | g.104037743A>T | CA378067295 | COL17A1 | c.2966T>A (p.Val989Asp) c.3101T>A (p.Val1034Asp) | |
| 10 | g.104037744C>A | CA378067296 | COL17A1 | c.2965G>T (p.Val989Phe) c.3100G>T (p.Val1034Phe) | |
| 10 | g.104037744C= | CA1933420794 | COL17A1 | c.2965G= (p.Val989=) c.3100G= (p.Val1034=) | |
| 10 | g.104037744C>G | CA378067297 | COL17A1 | c.2965G>C (p.Val989Leu) c.3100G>C (p.Val1034Leu) | |
| 10 | g.104037744C>T | CA5678089 | COL17A1 | c.2965G>A (p.Val989Ile) c.3100G>A (p.Val1034Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037745T>A | CA471344061 | COL17A1 | c.2964A>T (p.Gly988=) c.3099A>T (p.Gly1033=) | |
| 10 | g.104037745T>C | CA471344056 | COL17A1 | c.2964A>G (p.Gly988=) c.3099A>G (p.Gly1033=) | |
| 10 | g.104037745T>G | CA471344057 | COL17A1 | c.2964A>C (p.Gly988=) c.3099A>C (p.Gly1033=) | |
| 10 | g.104037746C>A | CA378067298 | COL17A1 | c.2963G>T (p.Gly988Val) c.3098G>T (p.Gly1033Val) | |
| 10 | g.104037746C= | CA1933420795 | COL17A1 | c.2963G= (p.Gly988=) c.3098G= (p.Gly1033=) | |
| 10 | g.104037746C>G | CA378067299 | COL17A1 | c.2963G>C (p.Gly988Ala) c.3098G>C (p.Gly1033Ala) | |
| 10 | g.104037746C>T | CA378067300 | COL17A1 | c.2963G>A (p.Gly988Glu) c.3098G>A (p.Gly1033Glu) | dbSNP gnomAD v2 COSMIC |
| 10 | g.104037747C>A | CA378067301 | COL17A1 | c.2962G>T (p.Gly988Ter) c.3097G>T (p.Gly1033Ter) | |
| 10 | g.104037747C= | CA1933389552 | COL17A1 | c.2962G= (p.Gly988=) c.3097G= (p.Gly1033=) | |
| 10 | g.104037747C>G | CA378067302 | COL17A1 | c.2962G>C (p.Gly988Arg) c.3097G>C (p.Gly1033Arg) | gnomAD v4 |
| 10 | g.104037747C>T | CA5678090 | COL17A1 | c.2962G>A (p.Gly988Arg) c.3097G>A (p.Gly1033Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104037748G>A | CA5678091 | COL17A1 | c.2961C>T (p.Ser987=) c.3096C>T (p.Ser1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037748G>C | CA471344075 | COL17A1 | c.2961C>G (p.Ser987=) c.3096C>G (p.Ser1032=) | |
| 10 | g.104037748G= | CA1933389553 | COL17A1 | c.2961C= (p.Ser987=) c.3096C= (p.Ser1032=) | |
| 10 | g.104037748G>T | CA471344078 | COL17A1 | c.2961C>A (p.Ser987=) c.3096C>A (p.Ser1032=) | |
| 10 | g.104037749G>A | CA378067303 | COL17A1 | c.2960C>T (p.Ser987Phe) c.3095C>T (p.Ser1032Phe) | |
| 10 | g.104037749G>C | CA378067304 | COL17A1 | c.2960C>G (p.Ser987Cys) c.3095C>G (p.Ser1032Cys) | |
| 10 | g.104037749G>T | CA378067305 | COL17A1 | c.2960C>A (p.Ser987Tyr) c.3095C>A (p.Ser1032Tyr) | gnomAD v4 |
| 10 | g.104037750A>C | CA378067306 | COL17A1 | c.2959T>G (p.Ser987Ala) c.3094T>G (p.Ser1032Ala) | |
| 10 | g.104037750A>G | CA378067307 | COL17A1 | c.2959T>C (p.Ser987Pro) c.3094T>C (p.Ser1032Pro) | |
| 10 | g.104037750A>T | CA378067308 | COL17A1 | c.2959T>A (p.Ser987Thr) c.3094T>A (p.Ser1032Thr) | |
| 10 | g.104037751T>A | CA471344090 | COL17A1 | c.2958A>T (p.Leu986=) c.3093A>T (p.Leu1031=) | |
| 10 | g.104037751T>C | CA471344099 | COL17A1 | c.2958A>G (p.Leu986=) c.3093A>G (p.Leu1031=) | |
| 10 | g.104037751T>G | CA471344097 | COL17A1 | c.2958A>C (p.Leu986=) c.3093A>C (p.Leu1031=) | |
| 10 | g.104037752A>C | CA378067309 | COL17A1 | c.2957T>G (p.Leu986Arg) c.3092T>G (p.Leu1031Arg) | |
| 10 | g.104037752A>G | CA378067311 | COL17A1 | c.2957T>C (p.Leu986Pro) c.3092T>C (p.Leu1031Pro) | gnomAD v4 |
| 10 | g.104037752A>T | CA378067310 | COL17A1 | c.2957T>A (p.Leu986Gln) c.3092T>A (p.Leu1031Gln) | |
| 10 | g.104037753G>A | CA471344108 | COL17A1 | c.2956C>T (p.Leu986=) c.3091C>T (p.Leu1031=) | |
| 10 | g.104037753G>C | CA5678092 | COL17A1 | c.2956C>G (p.Leu986Val) c.3091C>G (p.Leu1031Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037753G= | CA1933389554 | COL17A1 | c.2956C= (p.Leu986=) c.3091C= (p.Leu1031=) | |
| 10 | g.104037753G>T | CA378067312 | COL17A1 | c.2956C>A (p.Leu986Ile) c.3091C>A (p.Leu1031Ile) | |
| 10 | g.104037754G>A | CA471344113 | COL17A1 | c.2955C>T (p.Tyr985=) c.3090C>T (p.Tyr1030=) | gnomAD v4 |
| 10 | g.104037754G>C | CA378067313 | COL17A1 | c.2955C>G (p.Tyr985Ter) c.3090C>G (p.Tyr1030Ter) | |
| 10 | g.104037754G>T | CA378067314 | COL17A1 | c.2955C>A (p.Tyr985Ter) c.3090C>A (p.Tyr1030Ter) | |
| 10 | g.104037755T>A | CA5678093 | COL17A1 | c.2954A>T (p.Tyr985Phe) c.3089A>T (p.Tyr1030Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037755T>C | CA378067315 | COL17A1 | c.2954A>G (p.Tyr985Cys) c.3089A>G (p.Tyr1030Cys) | |
| 10 | g.104037755T>G | CA378067316 | COL17A1 | c.2954A>C (p.Tyr985Ser) c.3089A>C (p.Tyr1030Ser) | |
| 10 | g.104037755T= | CA1933389555 | COL17A1 | c.2954A= (p.Tyr985=) c.3089A= (p.Tyr1030=) | |
| 10 | g.104037756A= | CA1933389556 | COL17A1 | c.2953T= (p.Tyr985=) c.3088T= (p.Tyr1030=) | |
| 10 | g.104037756A>C | CA378067317 | COL17A1 | c.2953T>G (p.Tyr985Asp) c.3088T>G (p.Tyr1030Asp) | |
| 10 | g.104037756A>G | CA378067318 | COL17A1 | c.2953T>C (p.Tyr985His) c.3088T>C (p.Tyr1030His) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037756A>T | CA378067319 | COL17A1 | c.2953T>A (p.Tyr985Asn) c.3088T>A (p.Tyr1030Asn) | |
| 10 | g.104037757A= | CA1933389557 | COL17A1 | c.2952T= (p.Ser984=) c.3087T= (p.Ser1029=) | |
| 10 | g.104037757A>C | CA5678094 | COL17A1 | c.2952T>G (p.Ser984=) c.3087T>G (p.Ser1029=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037757A>G | CA471344131 | COL17A1 | c.2952T>C (p.Ser984=) c.3087T>C (p.Ser1029=) | |
| 10 | g.104037757A>T | CA471344129 | COL17A1 | c.2952T>A (p.Ser984=) c.3087T>A (p.Ser1029=) | |
| 10 | g.104037758G>A | CA378067321 | COL17A1 | c.2951C>T (p.Ser984Phe) c.3086C>T (p.Ser1029Phe) | |
| 10 | g.104037758G>C | CA378067322 | COL17A1 | c.2951C>G (p.Ser984Cys) c.3086C>G (p.Ser1029Cys) | |
| 10 | g.104037758G>T | CA378067320 | COL17A1 | c.2951C>A (p.Ser984Tyr) c.3086C>A (p.Ser1029Tyr) | |
| 10 | g.104037759A= | CA1933389558 | COL17A1 | c.2950T= (p.Ser984=) c.3085T= (p.Ser1029=) | |
| 10 | g.104037759A>C | CA5678095 | COL17A1 | c.2950T>G (p.Ser984Ala) c.3085T>G (p.Ser1029Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037759A>G | CA378067323 | COL17A1 | c.2950T>C (p.Ser984Pro) c.3085T>C (p.Ser1029Pro) | |
| 10 | g.104037759A>T | CA378067324 | COL17A1 | c.2950T>A (p.Ser984Thr) c.3085T>A (p.Ser1029Thr) | |
| 10 | g.104037760T>A | CA378067325 | COL17A1 | c.2949A>T (p.Arg983Ser) c.3084A>T (p.Arg1028Ser) | dbSNP |
| 10 | g.104037760T>C | CA471344144 | COL17A1 | c.2949A>G (p.Arg983=) c.3084A>G (p.Arg1028=) | |
| 10 | g.104037760T>G | CA378067326 | COL17A1 | c.2949A>C (p.Arg983Ser) c.3084A>C (p.Arg1028Ser) | |
| 10 | g.104037760T= | CA1933389559 | COL17A1 | c.2949A= (p.Arg983=) c.3084A= (p.Arg1028=) | |
| 10 | g.104037761C>A | CA378067327 | COL17A1 | c.2948G>T (p.Arg983Ile) c.3083G>T (p.Arg1028Ile) | |
| 10 | g.104037761C>G | CA378067328 | COL17A1 | c.2948G>C (p.Arg983Thr) c.3083G>C (p.Arg1028Thr) | COSMIC |
| 10 | g.104037761C>T | CA378067329 | COL17A1 | c.2948G>A (p.Arg983Lys) c.3083G>A (p.Arg1028Lys) | |
| 10 | g.104037762T>A | CA378067330 | COL17A1 | c.2947A>T (p.Arg983Ter) c.3082A>T (p.Arg1028Ter) | |
| 10 | g.104037762T>C | CA378067331 | COL17A1 | c.2947A>G (p.Arg983Gly) c.3082A>G (p.Arg1028Gly) | |
| 10 | g.104037762T>G | CA471344150 | COL17A1 | c.2947A>C (p.Arg983=) c.3082A>C (p.Arg1028=) | |
| 10 | g.104037763A>C | CA378067332 | COL17A1 | c.2946T>G (p.Ile982Met) c.3081T>G (p.Ile1027Met) | |
| 10 | g.104037763A>G | CA471344154 | COL17A1 | c.2946T>C (p.Ile982=) c.3081T>C (p.Ile1027=) | |
| 10 | g.104037763A>T | CA471344155 | COL17A1 | c.2946T>A (p.Ile982=) c.3081T>A (p.Ile1027=) | |
| 10 | g.104037764A>C | CA378067333 | COL17A1 | c.2945T>G (p.Ile982Ser) c.3080T>G (p.Ile1027Ser) | |
| 10 | g.104037764A>G | CA378067334 | COL17A1 | c.2945T>C (p.Ile982Thr) c.3080T>C (p.Ile1027Thr) | gnomAD v4 |
| 10 | g.104037764A>T | CA378067335 | COL17A1 | c.2945T>A (p.Ile982Asn) c.3080T>A (p.Ile1027Asn) | |
| 10 | g.104037765T>A | CA378067336 | COL17A1 | c.2944A>T (p.Ile982Phe) c.3079A>T (p.Ile1027Phe) | |
| 10 | g.104037765T>C | CA378067337 | COL17A1 | c.2944A>G (p.Ile982Val) c.3079A>G (p.Ile1027Val) | dbSNP gnomAD v4 |
| 10 | g.104037765T>G | CA378067338 | COL17A1 | c.2944A>C (p.Ile982Leu) c.3079A>C (p.Ile1027Leu) | |
| 10 | g.104037765T= | CA1933389560 | COL17A1 | c.2944A= (p.Ile982=) c.3079A= (p.Ile1027=) | |
| 10 | g.104037766A= | CA1933389561 | COL17A1 | c.2943T= (p.Ser981=) c.3078T= (p.Ser1026=) | |
| 10 | g.104037766A>C | CA378067340 | COL17A1 | c.2943T>G (p.Ser981Arg) c.3078T>G (p.Ser1026Arg) | |
| 10 | g.104037766A>G | CA5678096 | COL17A1 | c.2943T>C (p.Ser981=) c.3078T>C (p.Ser1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037766A>T | CA378067339 | COL17A1 | c.2943T>A (p.Ser981Arg) c.3078T>A (p.Ser1026Arg) | |
| 10 | g.104037767C>A | CA378067341 | COL17A1 | c.2942G>T (p.Ser981Ile) c.3077G>T (p.Ser1026Ile) | |
| 10 | g.104037767C>G | CA378067342 | COL17A1 | c.2942G>C (p.Ser981Thr) c.3077G>C (p.Ser1026Thr) | |
| 10 | g.104037767C>T | CA378067343 | COL17A1 | c.2942G>A (p.Ser981Asn) c.3077G>A (p.Ser1026Asn) | |
| 10 | g.104037767dup | CA2610800717 | COL17A1 | c.2942dup (p.Ser981ArgfsTer3) c.3077dup (p.Ser1026ArgfsTer3) | gnomAD v4 |
| 10 | g.104037768T>A | CA378067344 | COL17A1 | c.2941A>T (p.Ser981Cys) c.3076A>T (p.Ser1026Cys) | |
| 10 | g.104037768T>C | CA5678097 | COL17A1 | c.2941A>G (p.Ser981Gly) c.3076A>G (p.Ser1026Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037768T>G | CA378067345 | COL17A1 | c.2941A>C (p.Ser981Arg) c.3076A>C (p.Ser1026Arg) | |
| 10 | g.104037768T= | CA1933389562 | COL17A1 | c.2941A= (p.Ser981=) c.3076A= (p.Ser1026=) | |
| 10 | g.104037769G>A | CA471344180 | COL17A1 | c.2940C>T (p.Asp980=) c.3075C>T (p.Asp1025=) | |
| 10 | g.104037769G>C | CA378067346 | COL17A1 | c.2940C>G (p.Asp980Glu) c.3075C>G (p.Asp1025Glu) | |
| 10 | g.104037769G>T | CA378067347 | COL17A1 | c.2940C>A (p.Asp980Glu) c.3075C>A (p.Asp1025Glu) | |
| 10 | g.104037770T>A | CA378067348 | COL17A1 | c.2939A>T (p.Asp980Val) c.3074A>T (p.Asp1025Val) | |
| 10 | g.104037770T>C | CA378067349 | COL17A1 | c.2939A>G (p.Asp980Gly) c.3074A>G (p.Asp1025Gly) | |
| 10 | g.104037770T>G | CA378067350 | COL17A1 | c.2939A>C (p.Asp980Ala) c.3074A>C (p.Asp1025Ala) | |
| 10 | g.104037771C>A | CA378067352 | COL17A1 | c.2938G>T (p.Asp980Tyr) c.3073G>T (p.Asp1025Tyr) | |
| 10 | g.104037771C>G | CA378067353 | COL17A1 | c.2938G>C (p.Asp980His) c.3073G>C (p.Asp1025His) | |
| 10 | g.104037771C>T | CA378067351 | COL17A1 | c.2938G>A (p.Asp980Asn) c.3073G>A (p.Asp1025Asn) | |
| 10 | g.104037772A= | CA1933389563 | COL17A1 | c.2937T= (p.Ser979=) c.3072T= (p.Ser1024=) | |
| 10 | g.104037772A>C | CA378067354 | COL17A1 | c.2937T>G (p.Ser979Arg) c.3072T>G (p.Ser1024Arg) | dbSNP |
| 10 | g.104037772A>G | CA471344194 | COL17A1 | c.2937T>C (p.Ser979=) c.3072T>C (p.Ser1024=) | |
| 10 | g.104037772A>T | CA378067355 | COL17A1 | c.2937T>A (p.Ser979Arg) c.3072T>A (p.Ser1024Arg) | |
| 10 | g.104037773C>A | CA378067356 | COL17A1 | c.2936G>T (p.Ser979Ile) c.3071G>T (p.Ser1024Ile) | |
| 10 | g.104037773C>G | CA378067357 | COL17A1 | c.2936G>C (p.Ser979Thr) c.3071G>C (p.Ser1024Thr) | |
| 10 | g.104037773C>T | CA378067358 | COL17A1 | c.2936G>A (p.Ser979Asn) c.3071G>A (p.Ser1024Asn) | gnomAD v4 |
| 10 | g.104037774C>A | CA378067359 | COL17A1 | c.2936-1G>T (n.2936-1G>T) c.3071-1G>T (n.3071-1G>T) | |
| 10 | g.104037774C= | CA1933389564 | COL17A1 | c.2936-1G= (n.2936-1G=) c.3071-1G= (n.3071-1G=) | |
| 10 | g.104037774C>G | CA378067360 | COL17A1 | c.2936-1G>C (n.2936-1G>C) c.3071-1G>C (n.3071-1G>C) | |
| 10 | g.104037774C>T | CA378067361 | COL17A1 | c.2936-1G>A (n.2936-1G>A) c.3071-1G>A (n.3071-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037775T>A | CA378067362 | COL17A1 | c.2936-2A>T (n.2936-2A>T) c.3071-2A>T (n.3071-2A>T) | |
| 10 | g.104037775T>C | CA378067363 | COL17A1 | c.2936-2A>G (n.2936-2A>G) c.3071-2A>G (n.3071-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037775T>G | CA378067364 | COL17A1 | c.2936-2A>C (n.2936-2A>C) c.3071-2A>C (n.3071-2A>C) | |
| 10 | g.104037775T= | CA1933389565 | COL17A1 | c.2936-2A= (n.2936-2A=) c.3071-2A= (n.3071-2A=) | |
| 10 | g.104037776G= | CA1933389566 | COL17A1 | c.2936-3C= (n.2936-3C=) c.3071-3C= (n.3071-3C=) | |
| 10 | g.104037776G>T | CA595673865 | COL17A1 | c.2936-3C>A (n.2936-3C>A) c.3071-3C>A (n.3071-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037778C= | CA1933389567 | COL17A1 | c.2936-5G= (n.2936-5G=) c.3071-5G= (n.3071-5G=) | |
| 10 | g.104037778C>T | CA5678098 | COL17A1 | c.2936-5G>A (n.2936-5G>A) c.3071-5G>A (n.3071-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037779G>A | CA5678099 | COL17A1 | c.2936-6C>T (n.2936-6C>T) c.3071-6C>T (n.3071-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037779G>C | CA932069996 | COL17A1 | c.2936-6C>G (n.2936-6C>G) c.3071-6C>G (n.3071-6C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037779G= | CA1933389568 | COL17A1 | c.2936-6C= (n.2936-6C=) c.3071-6C= (n.3071-6C=) | |
| 10 | g.104037779G>T | CA2610800752 | COL17A1 | c.2936-6C>A (n.2936-6C>A) c.3071-6C>A (n.3071-6C>A) | gnomAD v4 |
| 10 | g.104037780A= | CA1933389569 | COL17A1 | c.2936-7T= (n.2936-7T=) c.3071-7T= (n.3071-7T=) | |
| 10 | g.104037780A>G | CA595673866 | COL17A1 | c.2936-7T>C (n.2936-7T>C) c.3071-7T>C (n.3071-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037781C>A | CA1933389571 | COL17A1 | c.2936-8G>T (n.2936-8G>T) c.3071-8G>T (n.3071-8G>T) | dbSNP |
| 10 | g.104037781C= | CA1933389570 | COL17A1 | c.2936-8G= (n.2936-8G=) c.3071-8G= (n.3071-8G=) | |
| 10 | g.104037781C>T | CA5678100 | COL17A1 | c.2936-8G>A (n.2936-8G>A) c.3071-8G>A (n.3071-8G>A) | dbSNP ExAC gnomAD v2 |
| 10 | g.104037782C= | CA1933389572 | COL17A1 | c.2936-9G= (n.2936-9G=) c.3071-9G= (n.3071-9G=) | |
| 10 | g.104037782C>G | CA5678101 | COL17A1 | c.2936-9G>C (n.2936-9G>C) c.3071-9G>C (n.3071-9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037783A>C | CA2610800763 | COL17A1 | c.2936-10T>G (n.2936-10T>G) c.3071-10T>G (n.3071-10T>G) | gnomAD v4 |
| 10 | g.104037784A>C | CA2739276026 | COL17A1 | c.2936-11T>G (n.2936-11T>G) c.3071-11T>G (n.3071-11T>G) | ClinVar |
| 10 | g.104037785G>A | CA212458641 | COL17A1 | c.2936-12C>T (n.2936-12C>T) c.3071-12C>T (n.3071-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037785G= | CA1933389573 | COL17A1 | c.2936-12C= (n.2936-12C=) c.3071-12C= (n.3071-12C=) | |
| 10 | g.104037788A= | CA1933389574 | COL17A1 | c.2936-15T= (n.2936-15T=) c.3071-15T= (n.3071-15T=) | |
| 10 | g.104037788A>C | CA5678103 | COL17A1 | c.2936-15T>G (n.2936-15T>G) c.3071-15T>G (n.3071-15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104037788A>G | CA2610800772 | COL17A1 | c.2936-15T>C (n.2936-15T>C) c.3071-15T>C (n.3071-15T>C) | gnomAD v4 |
| 10 | g.104037788_104037793delinsACAAAG | CA1933389575 | COL17A1 | c.2936-20_2936-15delinsCTTTGT (n.2936-20_2936-15delinsCTTTGT) c.3071-20_3071-15delinsCTTTGT (n.3071-20_3071-15delinsCTTTGT) | |
| 10 | g.104037789C>A | CA5678104 | COL17A1 | c.2936-16G>T (n.2936-16G>T) c.3071-16G>T (n.3071-16G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037789C= | CA1933389576 | COL17A1 | c.2936-16G= (n.2936-16G=) c.3071-16G= (n.3071-16G=) | |
| 10 | g.104037794_104037798del | CA5678102 | COL17A1 | c.2936-20_2936-16del (n.2936-20_2936-16del) c.3071-20_3071-16del (n.3071-20_3071-16del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037793G>A | CA659182320 | COL17A1 | c.2936-20C>T (n.2936-20C>T) c.3071-20C>T (n.3071-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037793G= | CA1933389577 | COL17A1 | c.2936-20C= (n.2936-20C=) c.3071-20C= (n.3071-20C=) | |
| 10 | g.104037796_104037797del | CA2610800784 | COL17A1 | c.2936-23_2936-22del (n.2936-23_2936-22del) c.3071-23_3071-22del (n.3071-23_3071-22del) | gnomAD v4 |
| 10 | g.104037797A= | CA1933389578 | COL17A1 | c.2936-24T= (n.2936-24T=) c.3071-24T= (n.3071-24T=) | |
| 10 | g.104037797A>G | CA659182323 | COL17A1 | c.2936-24T>C (n.2936-24T>C) c.3071-24T>C (n.3071-24T>C) | dbSNP gnomAD v4 |