| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104037688G>A | CA204962 | COL17A1 | c.3021C>T (p.Gly1007=) c.3156C>T (p.Gly1052=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037688G>C | CA471343759 | COL17A1 | c.3021C>G (p.Gly1007=) c.3156C>G (p.Gly1052=) | |
| 10 | g.104037688G= | CA1933420774 | COL17A1 | c.3021C= (p.Gly1007=) c.3156C= (p.Gly1052=) | |
| 10 | g.104037688G>T | CA471343761 | COL17A1 | c.3021C>A (p.Gly1007=) c.3156C>A (p.Gly1052=) | |
| 10 | g.104037688_104037691delinsGCCT | CA1933420775 | COL17A1 | c.3018_3021delinsAGGC (p.Thr1006=) c.3153_3156delinsAGGC (p.Thr1051=) | |
| 10 | g.104037689C>A | CA378067186 | COL17A1 | c.3020G>T (p.Gly1007Val) c.3155G>T (p.Gly1052Val) | COSMIC |
| 10 | g.104037689C= | CA1933420776 | COL17A1 | c.3020G= (p.Gly1007=) c.3155G= (p.Gly1052=) | |
| 10 | g.104037689C>G | CA378067187 | COL17A1 | c.3020G>C (p.Gly1007Ala) c.3155G>C (p.Gly1052Ala) | |
| 10 | g.104037689C>T | CA378067188 | COL17A1 | c.3020G>A (p.Gly1007Asp) c.3155G>A (p.Gly1052Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104037689_104037691del | CA659182180 | COL17A1 | c.3018_3020del (p.Gly1007del) c.3153_3155del (p.Gly1052del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104037690C>A | CA378067189 | COL17A1 | c.3019G>T (p.Gly1007Cys) c.3154G>T (p.Gly1052Cys) | |
| 10 | g.104037690C>G | CA378067190 | COL17A1 | c.3019G>C (p.Gly1007Arg) c.3154G>C (p.Gly1052Arg) | |
| 10 | g.104037690C>T | CA378067191 | COL17A1 | c.3019G>A (p.Gly1007Ser) c.3154G>A (p.Gly1052Ser) | |
| 10 | g.104037691T>A | CA471343773 | COL17A1 | c.3018A>T (p.Thr1006=) c.3153A>T (p.Thr1051=) | |
| 10 | g.104037691T>C | CA471343775 | COL17A1 | c.3018A>G (p.Thr1006=) c.3153A>G (p.Thr1051=) | |
| 10 | g.104037691T>G | CA471343777 | COL17A1 | c.3018A>C (p.Thr1006=) c.3153A>C (p.Thr1051=) | |
| 10 | g.104037692G>A | CA378067194 | COL17A1 | c.3017C>T (p.Thr1006Ile) c.3152C>T (p.Thr1051Ile) | |
| 10 | g.104037692G>C | CA378067192 | COL17A1 | c.3017C>G (p.Thr1006Arg) c.3152C>G (p.Thr1051Arg) | |
| 10 | g.104037692G>T | CA378067193 | COL17A1 | c.3017C>A (p.Thr1006Lys) c.3152C>A (p.Thr1051Lys) | |
| 10 | g.104037693T>A | CA378067195 | COL17A1 | c.3016A>T (p.Thr1006Ser) c.3151A>T (p.Thr1051Ser) | dbSNP |
| 10 | g.104037693T>C | CA378067196 | COL17A1 | c.3016A>G (p.Thr1006Ala) c.3151A>G (p.Thr1051Ala) | |
| 10 | g.104037693T>G | CA378067197 | COL17A1 | c.3016A>C (p.Thr1006Pro) c.3151A>C (p.Thr1051Pro) | |
| 10 | g.104037694G>A | CA471343791 | COL17A1 | c.3015C>T (p.Ile1005=) c.3150C>T (p.Ile1050=) | |
| 10 | g.104037694G>C | CA378067198 | COL17A1 | c.3015C>G (p.Ile1005Met) c.3150C>G (p.Ile1050Met) | |
| 10 | g.104037694G>T | CA471343794 | COL17A1 | c.3015C>A (p.Ile1005=) c.3150C>A (p.Ile1050=) | dbSNP |
| 10 | g.104037695A= | CA1933420777 | COL17A1 | c.3014T= (p.Ile1005=) c.3149T= (p.Ile1050=) | |
| 10 | g.104037695A>C | CA378067199 | COL17A1 | c.3014T>G (p.Ile1005Ser) c.3149T>G (p.Ile1050Ser) | |
| 10 | g.104037695A>G | CA378067200 | COL17A1 | c.3014T>C (p.Ile1005Thr) c.3149T>C (p.Ile1050Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104037695A>T | CA378067201 | COL17A1 | c.3014T>A (p.Ile1005Asn) c.3149T>A (p.Ile1050Asn) | |
| 10 | g.104037696T>A | CA378067202 | COL17A1 | c.3013A>T (p.Ile1005Phe) c.3148A>T (p.Ile1050Phe) | |
| 10 | g.104037696T>C | CA378067203 | COL17A1 | c.3013A>G (p.Ile1005Val) c.3148A>G (p.Ile1050Val) | dbSNP |
| 10 | g.104037696T>G | CA378067204 | COL17A1 | c.3013A>C (p.Ile1005Leu) c.3148A>C (p.Ile1050Leu) | |
| 10 | g.104037696T= | CA1933420778 | COL17A1 | c.3013A= (p.Ile1005=) c.3148A= (p.Ile1050=) | |
| 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.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) |