| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57674799G>A | CA2641954340 | ATP8B1 | c.1819+35C>T (n.1819+35C>T) c.1684+35C>T c.1705+35C>T (n.1705+35C>T) c.1099+35C>T (n.1099+35C>T) c.1669+35C>T (n.1669+35C>T) | gnomAD v4 |
| 18 | g.57674799G>C | CA2641954341 | ATP8B1 | c.1819+35C>G (n.1819+35C>G) c.1684+35C>G c.1705+35C>G (n.1705+35C>G) c.1099+35C>G (n.1099+35C>G) c.1669+35C>G (n.1669+35C>G) | gnomAD v4 |
| 18 | g.57674799G>T | CA2641954343 | ATP8B1 | c.1819+35C>A (n.1819+35C>A) c.1684+35C>A c.1705+35C>A (n.1705+35C>A) c.1099+35C>A (n.1099+35C>A) c.1669+35C>A (n.1669+35C>A) | gnomAD v4 |
| 18 | g.57674801_57674804dup | CA2641954338 | ATP8B1 | c.1819+32_1819+35dup (n.1819+32_1819+35dup) c.1684+32_1684+35dup c.1705+32_1705+35dup (n.1705+32_1705+35dup) c.1099+32_1099+35dup (n.1099+32_1099+35dup) c.1669+32_1669+35dup (n.1669+32_1669+35dup) | gnomAD v4 |
| 18 | g.57674801G>A | CA8974460 | ATP8B1 | c.1819+33C>T (n.1819+33C>T) c.1684+33C>T c.1705+33C>T (n.1705+33C>T) c.1099+33C>T (n.1099+33C>T) c.1669+33C>T (n.1669+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674801G= | CA2306103121 | ATP8B1 | c.1819+33C= (n.1819+33C=) c.1684+33C= c.1705+33C= (n.1705+33C=) c.1099+33C= (n.1099+33C=) c.1669+33C= (n.1669+33C=) | |
| 18 | g.57674802C= | CA2306103122 | ATP8B1 | c.1819+32G= (n.1819+32G=) c.1684+32G= c.1705+32G= (n.1705+32G=) c.1099+32G= (n.1099+32G=) c.1669+32G= (n.1669+32G=) | |
| 18 | g.57674802C>G | CA630395998 | ATP8B1 | c.1819+32G>C (n.1819+32G>C) c.1684+32G>C c.1705+32G>C (n.1705+32G>C) c.1099+32G>C (n.1099+32G>C) c.1669+32G>C (n.1669+32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674802C>T | CA630395999 | ATP8B1 | c.1819+32G>A (n.1819+32G>A) c.1684+32G>A c.1705+32G>A (n.1705+32G>A) c.1099+32G>A (n.1099+32G>A) c.1669+32G>A (n.1669+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57674803G>A | CA8974461 | ATP8B1 | c.1819+31C>T (n.1819+31C>T) c.1684+31C>T c.1705+31C>T (n.1705+31C>T) c.1099+31C>T (n.1099+31C>T) c.1669+31C>T (n.1669+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674803G= | CA2306103123 | ATP8B1 | c.1819+31C= (n.1819+31C=) c.1684+31C= c.1705+31C= (n.1705+31C=) c.1099+31C= (n.1099+31C=) c.1669+31C= (n.1669+31C=) | |
| 18 | g.57674803G>T | CA2641954345 | ATP8B1 | c.1819+31C>A (n.1819+31C>A) c.1684+31C>A c.1705+31C>A (n.1705+31C>A) c.1099+31C>A (n.1099+31C>A) c.1669+31C>A (n.1669+31C>A) | gnomAD v4 |
| 18 | g.57674805T>C | CA8974462 | ATP8B1 | c.1819+29A>G (n.1819+29A>G) c.1684+29A>G c.1705+29A>G (n.1705+29A>G) c.1099+29A>G (n.1099+29A>G) c.1669+29A>G (n.1669+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674805T>G | CA2641954346 | ATP8B1 | c.1819+29A>C (n.1819+29A>C) c.1684+29A>C c.1705+29A>C (n.1705+29A>C) c.1099+29A>C (n.1099+29A>C) c.1669+29A>C (n.1669+29A>C) | gnomAD v4 |
| 18 | g.57674805T= | CA2306103124 | ATP8B1 | c.1819+29A= (n.1819+29A=) c.1684+29A= c.1705+29A= (n.1705+29A=) c.1099+29A= (n.1099+29A=) c.1669+29A= (n.1669+29A=) | |
| 18 | g.57674809T>C | CA8974463 | ATP8B1 | c.1819+25A>G (n.1819+25A>G) c.1684+25A>G c.1705+25A>G (n.1705+25A>G) c.1099+25A>G (n.1099+25A>G) c.1669+25A>G (n.1669+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.57674809T= | CA2306103127 | ATP8B1 | c.1819+25A= (n.1819+25A=) c.1684+25A= c.1705+25A= (n.1705+25A=) c.1099+25A= (n.1099+25A=) c.1669+25A= (n.1669+25A=) | |
| 18 | g.57674809_57674811delinsTAG | CA2306103125 | ATP8B1 | c.1819+23_1819+25delinsCTA (n.1819+23_1819+25delinsCTA) c.1684+23_1684+25delinsCTA c.1705+23_1705+25delinsCTA (n.1705+23_1705+25delinsCTA) c.1099+23_1099+25delinsCTA (n.1099+23_1099+25delinsCTA) c.1669+23_1669+25delinsCTA (n.1669+23_1669+25delinsCTA) | |
| 18 | g.57674809_57674813delinsTAGAC | CA2306103126 | ATP8B1 | c.1819+21_1819+25delinsGTCTA (n.1819+21_1819+25delinsGTCTA) c.1684+21_1684+25delinsGTCTA c.1705+21_1705+25delinsGTCTA (n.1705+21_1705+25delinsGTCTA) c.1099+21_1099+25delinsGTCTA (n.1099+21_1099+25delinsGTCTA) c.1669+21_1669+25delinsGTCTA (n.1669+21_1669+25delinsGTCTA) | |
| 18 | g.57674810A>T | CA504021178 | ATP8B1 | c.1819+24T>A (n.1819+24T>A) c.1684+24T>A c.1705+24T>A (n.1705+24T>A) c.1099+24T>A (n.1099+24T>A) c.1669+24T>A (n.1669+24T>A) | |
| 18 | g.57674811_57674812del | CA8974464 | ATP8B1 | c.1819+23_1819+24del (n.1819+23_1819+24del) c.1684+23_1684+24del c.1705+23_1705+24del (n.1705+23_1705+24del) c.1099+23_1099+24del (n.1099+23_1099+24del) c.1669+23_1669+24del (n.1669+23_1669+24del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674814_57674817del | CA8974465 | ATP8B1 | c.1819+21_1819+24del (n.1819+21_1819+24del) c.1684+21_1684+24del c.1705+21_1705+24del (n.1705+21_1705+24del) c.1099+21_1099+24del (n.1099+21_1099+24del) c.1669+21_1669+24del (n.1669+21_1669+24del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674811G>T | CA2641954347 | ATP8B1 | c.1819+23C>A (n.1819+23C>A) c.1684+23C>A c.1705+23C>A (n.1705+23C>A) c.1099+23C>A (n.1099+23C>A) c.1669+23C>A (n.1669+23C>A) | gnomAD v4 |
| 18 | g.57674812A>G | CA2735085066 | ATP8B1 | c.1819+22T>C (n.1819+22T>C) c.1684+22T>C c.1705+22T>C (n.1705+22T>C) c.1099+22T>C (n.1099+22T>C) c.1669+22T>C (n.1669+22T>C) | dbSNP |
| 18 | g.57674813C>T | CA2641954348 | ATP8B1 | c.1819+21G>A (n.1819+21G>A) c.1684+21G>A c.1705+21G>A (n.1705+21G>A) c.1099+21G>A (n.1099+21G>A) c.1669+21G>A (n.1669+21G>A) | gnomAD v4 |
| 18 | g.57674817C>A | CA8974466 | ATP8B1 | c.1819+17G>T (n.1819+17G>T) c.1684+17G>T c.1705+17G>T (n.1705+17G>T) c.1099+17G>T (n.1099+17G>T) c.1669+17G>T (n.1669+17G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674817C= | CA2306103128 | ATP8B1 | c.1819+17G= (n.1819+17G=) c.1684+17G= c.1705+17G= (n.1705+17G=) c.1099+17G= (n.1099+17G=) c.1669+17G= (n.1669+17G=) | |
| 18 | g.57674817C>T | CA2641954349 | ATP8B1 | c.1819+17G>A (n.1819+17G>A) c.1684+17G>A c.1705+17G>A (n.1705+17G>A) c.1099+17G>A (n.1099+17G>A) c.1669+17G>A (n.1669+17G>A) | gnomAD v4 |
| 18 | g.57674818T>C | CA2641954350 | ATP8B1 | c.1819+16A>G (n.1819+16A>G) c.1684+16A>G c.1705+16A>G (n.1705+16A>G) c.1099+16A>G (n.1099+16A>G) c.1669+16A>G (n.1669+16A>G) | gnomAD v4 |
| 18 | g.57674819C>T | CA2641954351 | ATP8B1 | c.1819+15G>A (n.1819+15G>A) c.1684+15G>A c.1705+15G>A (n.1705+15G>A) c.1099+15G>A (n.1099+15G>A) c.1669+15G>A (n.1669+15G>A) | gnomAD v4 |
| 18 | g.57674820T>A | CA8974467 | ATP8B1 | c.1819+14A>T (n.1819+14A>T) c.1684+14A>T c.1705+14A>T (n.1705+14A>T) c.1099+14A>T (n.1099+14A>T) c.1669+14A>T (n.1669+14A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674820T>C | CA2641954352 | ATP8B1 | c.1819+14A>G (n.1819+14A>G) c.1684+14A>G c.1705+14A>G (n.1705+14A>G) c.1099+14A>G (n.1099+14A>G) c.1669+14A>G (n.1669+14A>G) | gnomAD v4 |
| 18 | g.57674820T= | CA2306103129 | ATP8B1 | c.1819+14A= (n.1819+14A=) c.1684+14A= c.1705+14A= (n.1705+14A=) c.1099+14A= (n.1099+14A=) c.1669+14A= (n.1669+14A=) | |
| 18 | g.57674821G>C | CA2576663512 | ATP8B1 | c.1819+13C>G (n.1819+13C>G) c.1684+13C>G c.1705+13C>G (n.1705+13C>G) c.1099+13C>G (n.1099+13C>G) c.1669+13C>G (n.1669+13C>G) | |
| 18 | g.57674822A= | CA2306103130 | ATP8B1 | c.1819+12T= (n.1819+12T=) c.1684+12T= c.1705+12T= (n.1705+12T=) c.1099+12T= (n.1099+12T=) c.1669+12T= (n.1669+12T=) | |
| 18 | g.57674823G>A | CA2641954353 | ATP8B1 | c.1819+11C>T (n.1819+11C>T) c.1684+11C>T c.1705+11C>T (n.1705+11C>T) c.1099+11C>T (n.1099+11C>T) c.1669+11C>T (n.1669+11C>T) | gnomAD v4 |
| 18 | g.57674823G>T | CA2697555547 | ATP8B1 | c.1819+11C>A (n.1819+11C>A) c.1684+11C>A c.1705+11C>A (n.1705+11C>A) c.1099+11C>A (n.1099+11C>A) c.1669+11C>A (n.1669+11C>A) | ClinVar |
| 18 | g.57674827dup | CA2306103131 | ATP8B1 | c.1819+11dup (n.1819+11dup) c.1684+11dup c.1705+11dup (n.1705+11dup) c.1099+11dup (n.1099+11dup) c.1669+11dup (n.1669+11dup) | dbSNP |
| 18 | g.57674824G>A | CA8974468 | ATP8B1 | c.1819+10C>T (n.1819+10C>T) c.1684+10C>T c.1705+10C>T (n.1705+10C>T) c.1099+10C>T (n.1099+10C>T) c.1669+10C>T (n.1669+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674824G= | CA2306103132 | ATP8B1 | c.1819+10C= (n.1819+10C=) c.1684+10C= c.1705+10C= (n.1705+10C=) c.1099+10C= (n.1099+10C=) c.1669+10C= (n.1669+10C=) | |
| 18 | g.57674825G>A | CA2306103134 | ATP8B1 | c.1819+9C>T (n.1819+9C>T) c.1684+9C>T c.1705+9C>T (n.1705+9C>T) c.1099+9C>T (n.1099+9C>T) c.1669+9C>T (n.1669+9C>T) | ClinVar dbSNP |
| 18 | g.57674825G= | CA2306103133 | ATP8B1 | c.1819+9C= (n.1819+9C=) c.1684+9C= c.1705+9C= (n.1705+9C=) c.1099+9C= (n.1099+9C=) c.1669+9C= (n.1669+9C=) | |
| 18 | g.57674825G>T | CA2641954356 | ATP8B1 | c.1819+9C>A (n.1819+9C>A) c.1684+9C>A c.1705+9C>A (n.1705+9C>A) c.1099+9C>A (n.1099+9C>A) c.1669+9C>A (n.1669+9C>A) | gnomAD v4 |
| 18 | g.57674826G>A | CA2512974641 | ATP8B1 | c.1819+8C>T (n.1819+8C>T) c.1684+8C>T c.1705+8C>T (n.1705+8C>T) c.1099+8C>T (n.1099+8C>T) c.1669+8C>T (n.1669+8C>T) | |
| 18 | g.57674827G>A | CA300889038 | ATP8B1 | c.1819+7C>T (n.1819+7C>T) c.1684+7C>T c.1705+7C>T (n.1705+7C>T) c.1099+7C>T (n.1099+7C>T) c.1669+7C>T (n.1669+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57674827G>C | CA2697555548 | ATP8B1 | c.1819+7C>G (n.1819+7C>G) c.1684+7C>G c.1705+7C>G (n.1705+7C>G) c.1099+7C>G (n.1099+7C>G) c.1669+7C>G (n.1669+7C>G) | ClinVar |
| 18 | g.57674827G= | CA2306103135 | ATP8B1 | c.1819+7C= (n.1819+7C=) c.1684+7C= c.1705+7C= (n.1705+7C=) c.1099+7C= (n.1099+7C=) c.1669+7C= (n.1669+7C=) | |
| 18 | g.57674828A= | CA2306103136 | ATP8B1 | c.1819+6T= (n.1819+6T=) c.1684+6T= c.1705+6T= (n.1705+6T=) c.1099+6T= (n.1099+6T=) c.1669+6T= (n.1669+6T=) | |
| 18 | g.57674828A>G | CA780828756 | ATP8B1 | c.1819+6T>C (n.1819+6T>C) c.1684+6T>C c.1705+6T>C (n.1705+6T>C) c.1099+6T>C (n.1099+6T>C) c.1669+6T>C (n.1669+6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.57674829C= | CA2306103138 | ATP8B1 | c.1819+5G= (n.1819+5G=) c.1684+5G= c.1705+5G= (n.1705+5G=) c.1099+5G= (n.1099+5G=) c.1669+5G= (n.1669+5G=) | |
| 18 | g.57674829C>T | CA2306103137 | ATP8B1 | c.1819+5G>A (n.1819+5G>A) c.1684+5G>A c.1705+5G>A (n.1705+5G>A) c.1099+5G>A (n.1099+5G>A) c.1669+5G>A (n.1669+5G>A) | dbSNP gnomAD v4 |
| 18 | g.57674830T>C | CA2553528164 | ATP8B1 | c.1819+4A>G (n.1819+4A>G) c.1684+4A>G c.1705+4A>G (n.1705+4A>G) c.1099+4A>G (n.1099+4A>G) c.1669+4A>G (n.1669+4A>G) | gnomAD v4 |
| 18 | g.57674831T>C | CA2641954375 | ATP8B1 | c.1819+3A>G (n.1819+3A>G) c.1684+3A>G c.1705+3A>G (n.1705+3A>G) c.1099+3A>G (n.1099+3A>G) c.1669+3A>G (n.1669+3A>G) | gnomAD v4 |
| 18 | g.57674832A>C | CA402560500 | ATP8B1 | c.1819+2T>G (n.1819+2T>G) c.1684+2T>G c.1705+2T>G (n.1705+2T>G) c.1099+2T>G (n.1099+2T>G) c.1669+2T>G (n.1669+2T>G) | |
| 18 | g.57674832A>G | CA402560499 | ATP8B1 | c.1819+2T>C (n.1819+2T>C) c.1684+2T>C c.1705+2T>C (n.1705+2T>C) c.1099+2T>C (n.1099+2T>C) c.1669+2T>C (n.1669+2T>C) | |
| 18 | g.57674832A>T | CA402560498 | ATP8B1 | c.1819+2T>A (n.1819+2T>A) c.1684+2T>A c.1705+2T>A (n.1705+2T>A) c.1099+2T>A (n.1099+2T>A) c.1669+2T>A (n.1669+2T>A) | |
| 18 | g.57674833C>A | CA402560503 | ATP8B1 | c.1819+1G>T (n.1819+1G>T) c.1684+1G>T c.1705+1G>T (n.1705+1G>T) c.1099+1G>T (n.1099+1G>T) c.1669+1G>T (n.1669+1G>T) | |
| 18 | g.57674833C= | CA2306103139 | ATP8B1 | c.1819+1G= (n.1819+1G=) c.1684+1G= c.1705+1G= (n.1705+1G=) c.1099+1G= (n.1099+1G=) c.1669+1G= (n.1669+1G=) | |
| 18 | g.57674833C>G | CA402560510 | ATP8B1 | c.1819+1G>C (n.1819+1G>C) c.1684+1G>C c.1705+1G>C (n.1705+1G>C) c.1099+1G>C (n.1099+1G>C) c.1669+1G>C (n.1669+1G>C) | gnomAD v4 |
| 18 | g.57674833C>T | CA402560505 | ATP8B1 | c.1819+1G>A (n.1819+1G>A) c.1684+1G>A c.1705+1G>A (n.1705+1G>A) c.1099+1G>A (n.1099+1G>A) c.1669+1G>A (n.1669+1G>A) | ClinVar dbSNP gnomAD v2 |
| 18 | g.57674834C>A | CA8974469 | ATP8B1 | c.1819G>T (p.Val607Leu) c.1684G>T c.1705G>T (p.Val569Leu) c.1099G>T (p.Val367Leu) c.1669G>T (p.Val557Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674834C= | CA2306103140 | ATP8B1 | c.1819G= (p.Val607=) c.1684G= c.1705G= (p.Val569=) c.1099G= (p.Val367=) c.1669G= (p.Val557=) | |
| 18 | g.57674834C>G | CA402560518 | ATP8B1 | c.1819G>C (p.Val607Leu) c.1684G>C c.1705G>C (p.Val569Leu) c.1099G>C (p.Val367Leu) c.1669G>C (p.Val557Leu) | |
| 18 | g.57674834C>T | CA402560520 | ATP8B1 | c.1819G>A (p.Val607Ile) c.1684G>A c.1705G>A (p.Val569Ile) c.1099G>A (p.Val367Ile) c.1669G>A (p.Val557Ile) | |
| 18 | g.57674835A>C | CA402560525 | ATP8B1 | c.1818T>G (p.Ile606Met) c.1683T>G c.1704T>G (p.Ile568Met) c.1098T>G (p.Ile366Met) c.1668T>G (p.Ile556Met) | |
| 18 | g.57674835A>G | CA504021179 | ATP8B1 | c.1818T>C (p.Ile606=) c.1683T>C c.1704T>C (p.Ile568=) c.1098T>C (p.Ile366=) c.1668T>C (p.Ile556=) | |
| 18 | g.57674835A>T | CA504021180 | ATP8B1 | c.1818T>A (p.Ile606=) c.1683T>A c.1704T>A (p.Ile568=) c.1098T>A (p.Ile366=) c.1668T>A (p.Ile556=) | |
| 18 | g.57674836A= | CA2306103141 | ATP8B1 | c.1817T= (p.Ile606=) c.1682T= c.1703T= (p.Ile568=) c.1097T= (p.Ile366=) c.1667T= (p.Ile556=) | |
| 18 | g.57674836A>C | CA402560527 | ATP8B1 | c.1817T>G (p.Ile606Ser) c.1682T>G c.1703T>G (p.Ile568Ser) c.1097T>G (p.Ile366Ser) c.1667T>G (p.Ile556Ser) | |
| 18 | g.57674836A>G | CA402560529 | ATP8B1 | c.1817T>C (p.Ile606Thr) c.1682T>C c.1703T>C (p.Ile568Thr) c.1097T>C (p.Ile366Thr) c.1667T>C (p.Ile556Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57674836A>T | CA402560531 | ATP8B1 | c.1817T>A (p.Ile606Asn) c.1682T>A c.1703T>A (p.Ile568Asn) c.1097T>A (p.Ile366Asn) c.1667T>A (p.Ile556Asn) | |
| 18 | g.57674837T>A | CA402560533 | ATP8B1 | c.1816A>T (p.Ile606Phe) c.1681A>T c.1702A>T (p.Ile568Phe) c.1096A>T (p.Ile366Phe) c.1666A>T (p.Ile556Phe) | |
| 18 | g.57674837T>C | CA402560535 | ATP8B1 | c.1816A>G (p.Ile606Val) c.1681A>G c.1702A>G (p.Ile568Val) c.1096A>G (p.Ile366Val) c.1666A>G (p.Ile556Val) | |
| 18 | g.57674837T>G | CA402560538 | ATP8B1 | c.1816A>C (p.Ile606Leu) c.1681A>C c.1702A>C (p.Ile568Leu) c.1096A>C (p.Ile366Leu) c.1666A>C (p.Ile556Leu) | |
| 18 | g.57674838G>A | CA8974471 | ATP8B1 | c.1815C>T (p.Ile605=) c.1680C>T c.1701C>T (p.Ile567=) c.1095C>T (p.Ile365=) c.1665C>T (p.Ile555=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674838G>C | CA402560544 | ATP8B1 | c.1815C>G (p.Ile605Met) c.1680C>G c.1701C>G (p.Ile567Met) c.1095C>G (p.Ile365Met) c.1665C>G (p.Ile555Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674838G= | CA2306103142 | ATP8B1 | c.1815C= (p.Ile605=) c.1680C= c.1701C= (p.Ile567=) c.1095C= (p.Ile365=) c.1665C= (p.Ile555=) | |
| 18 | g.57674838G>T | CA8974470 | ATP8B1 | c.1815C>A (p.Ile605=) c.1680C>A c.1701C>A (p.Ile567=) c.1095C>A (p.Ile365=) c.1665C>A (p.Ile555=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674839A>C | CA402560550 | ATP8B1 | c.1814T>G (p.Ile605Ser) c.1679T>G c.1700T>G (p.Ile567Ser) c.1094T>G (p.Ile365Ser) c.1664T>G (p.Ile555Ser) | |
| 18 | g.57674839A>G | CA402560554 | ATP8B1 | c.1814T>C (p.Ile605Thr) c.1679T>C c.1700T>C (p.Ile567Thr) c.1094T>C (p.Ile365Thr) c.1664T>C (p.Ile555Thr) | gnomAD v4 |
| 18 | g.57674839A>T | CA402560553 | ATP8B1 | c.1814T>A (p.Ile605Asn) c.1679T>A c.1700T>A (p.Ile567Asn) c.1094T>A (p.Ile365Asn) c.1664T>A (p.Ile555Asn) | |
| 18 | g.57674840T>A | CA402560555 | ATP8B1 | c.1813A>T (p.Ile605Phe) c.1678A>T c.1699A>T (p.Ile567Phe) c.1093A>T (p.Ile365Phe) c.1663A>T (p.Ile555Phe) | |
| 18 | g.57674840T>C | CA8974472 | ATP8B1 | c.1813A>G (p.Ile605Val) c.1678A>G c.1699A>G (p.Ile567Val) c.1093A>G (p.Ile365Val) c.1663A>G (p.Ile555Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674840T>G | CA402560558 | ATP8B1 | c.1813A>C (p.Ile605Leu) c.1678A>C c.1699A>C (p.Ile567Leu) c.1093A>C (p.Ile365Leu) c.1663A>C (p.Ile555Leu) | |
| 18 | g.57674840T= | CA2306103143 | ATP8B1 | c.1813A= (p.Ile605=) c.1678A= c.1699A= (p.Ile567=) c.1093A= (p.Ile365=) c.1663A= (p.Ile555=) | |
| 18 | g.57674841A= | CA2306103144 | ATP8B1 | c.1812T= (p.Ser604=) c.1677T= c.1698T= (p.Ser566=) c.1092T= (p.Ser364=) c.1662T= (p.Ser554=) | |
| 18 | g.57674841A>C | CA504021181 | ATP8B1 | c.1812T>G (p.Ser604=) c.1677T>G c.1698T>G (p.Ser566=) c.1092T>G (p.Ser364=) c.1662T>G (p.Ser554=) | |
| 18 | g.57674841A>G | CA8974473 | ATP8B1 | c.1812T>C (p.Ser604=) c.1677T>C c.1698T>C (p.Ser566=) c.1092T>C (p.Ser364=) c.1662T>C (p.Ser554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674841A>T | CA504021182 | ATP8B1 | c.1812T>A (p.Ser604=) c.1677T>A c.1698T>A (p.Ser566=) c.1092T>A (p.Ser364=) c.1662T>A (p.Ser554=) | gnomAD v4 |
| 18 | g.57674842G>A | CA402560559 | ATP8B1 | c.1811C>T (p.Ser604Phe) c.1676C>T c.1697C>T (p.Ser566Phe) c.1091C>T (p.Ser364Phe) c.1661C>T (p.Ser554Phe) | |
| 18 | g.57674842G>C | CA402560561 | ATP8B1 | c.1811C>G (p.Ser604Cys) c.1676C>G c.1697C>G (p.Ser566Cys) c.1091C>G (p.Ser364Cys) c.1661C>G (p.Ser554Cys) | |
| 18 | g.57674842G>T | CA402560568 | ATP8B1 | c.1811C>A (p.Ser604Tyr) c.1676C>A c.1697C>A (p.Ser566Tyr) c.1091C>A (p.Ser364Tyr) c.1661C>A (p.Ser554Tyr) | |
| 18 | g.57674843A>C | CA402560572 | ATP8B1 | c.1810T>G (p.Ser604Ala) c.1675T>G c.1696T>G (p.Ser566Ala) c.1090T>G (p.Ser364Ala) c.1660T>G (p.Ser554Ala) | |
| 18 | g.57674843A>G | CA402560574 | ATP8B1 | c.1810T>C (p.Ser604Pro) c.1675T>C c.1696T>C (p.Ser566Pro) c.1090T>C (p.Ser364Pro) c.1660T>C (p.Ser554Pro) | gnomAD v4 |
| 18 | g.57674843A>T | CA402560576 | ATP8B1 | c.1810T>A (p.Ser604Thr) c.1675T>A c.1696T>A (p.Ser566Thr) c.1090T>A (p.Ser364Thr) c.1660T>A (p.Ser554Thr) | |
| 18 | g.57674844C>A | CA402560587 | ATP8B1 | c.1809G>T (p.Met603Ile) c.1674G>T c.1695G>T (p.Met565Ile) c.1089G>T (p.Met363Ile) c.1659G>T (p.Met553Ile) | |
| 18 | g.57674844C= | CA2306103145 | ATP8B1 | c.1809G= (p.Met603=) c.1674G= c.1695G= (p.Met565=) c.1089G= (p.Met363=) c.1659G= (p.Met553=) | |
| 18 | g.57674844C>G | CA402560583 | ATP8B1 | c.1809G>C (p.Met603Ile) c.1674G>C c.1695G>C (p.Met565Ile) c.1089G>C (p.Met363Ile) c.1659G>C (p.Met553Ile) | |
| 18 | g.57674844C>T | CA8974474 | ATP8B1 | c.1809G>A (p.Met603Ile) c.1674G>A c.1695G>A (p.Met565Ile) c.1089G>A (p.Met363Ile) c.1659G>A (p.Met553Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674845A>C | CA402560593 | ATP8B1 | c.1808T>G (p.Met603Arg) c.1673T>G c.1694T>G (p.Met565Arg) c.1088T>G (p.Met363Arg) c.1658T>G (p.Met553Arg) | |
| 18 | g.57674845A>G | CA402560594 | ATP8B1 | c.1808T>C (p.Met603Thr) c.1673T>C c.1694T>C (p.Met565Thr) c.1088T>C (p.Met363Thr) c.1658T>C (p.Met553Thr) | gnomAD v4 |
| 18 | g.57674845A>T | CA402560597 | ATP8B1 | c.1808T>A (p.Met603Lys) c.1673T>A c.1694T>A (p.Met565Lys) c.1088T>A (p.Met363Lys) c.1658T>A (p.Met553Lys) | |
| 18 | g.57674846T>A | CA402560600 | ATP8B1 | c.1807A>T (p.Met603Leu) c.1672A>T c.1693A>T (p.Met565Leu) c.1087A>T (p.Met363Leu) c.1657A>T (p.Met553Leu) | |
| 18 | g.57674846T>C | CA8974475 | ATP8B1 | c.1807A>G (p.Met603Val) c.1672A>G c.1693A>G (p.Met565Val) c.1087A>G (p.Met363Val) c.1657A>G (p.Met553Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674846T>G | CA402560605 | ATP8B1 | c.1807A>C (p.Met603Leu) c.1672A>C c.1693A>C (p.Met565Leu) c.1087A>C (p.Met363Leu) c.1657A>C (p.Met553Leu) | |
| 18 | g.57674846T= | CA2306103146 | ATP8B1 | c.1807A= (p.Met603=) c.1672A= c.1693A= (p.Met565=) c.1087A= (p.Met363=) c.1657A= (p.Met553=) | |
| 18 | g.57674847T>A | CA504021183 | ATP8B1 | c.1806A>T (p.Arg602=) c.1671A>T c.1692A>T (p.Arg564=) c.1086A>T (p.Arg362=) c.1656A>T (p.Arg552=) | |
| 18 | g.57674847T>C | CA504021184 | ATP8B1 | c.1806A>G (p.Arg602=) c.1671A>G c.1692A>G (p.Arg564=) c.1086A>G (p.Arg362=) c.1656A>G (p.Arg552=) | |
| 18 | g.57674847T>G | CA504021185 | ATP8B1 | c.1806A>C (p.Arg602=) c.1671A>C c.1692A>C (p.Arg564=) c.1086A>C (p.Arg362=) c.1656A>C (p.Arg552=) | |
| 18 | g.57674848C>A | CA402560612 | ATP8B1 | c.1805G>T (p.Arg602Leu) c.1670G>T c.1691G>T (p.Arg564Leu) c.1085G>T (p.Arg362Leu) c.1655G>T (p.Arg552Leu) | |
| 18 | g.57674848C= | CA2306103147 | ATP8B1 | c.1805G= (p.Arg602=) c.1670G= c.1691G= (p.Arg564=) c.1085G= (p.Arg362=) c.1655G= (p.Arg552=) | |
| 18 | g.57674848C>G | CA402560608 | ATP8B1 | c.1805G>C (p.Arg602Pro) c.1670G>C c.1691G>C (p.Arg564Pro) c.1085G>C (p.Arg362Pro) c.1655G>C (p.Arg552Pro) | |
| 18 | g.57674848C>T | CA8974476 | ATP8B1 | c.1805G>A (p.Arg602Gln) c.1670G>A c.1691G>A (p.Arg564Gln) c.1085G>A (p.Arg362Gln) c.1655G>A (p.Arg552Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674849G>A | CA254138 | ATP8B1 | c.1804C>T (p.Arg602Ter) c.1669C>T c.1690C>T (p.Arg564Ter) c.1084C>T (p.Arg362Ter) c.1654C>T (p.Arg552Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.57674849G>C | CA402560615 | ATP8B1 | c.1804C>G (p.Arg602Gly) c.1669C>G c.1690C>G (p.Arg564Gly) c.1084C>G (p.Arg362Gly) c.1654C>G (p.Arg552Gly) | |
| 18 | g.57674849G= | CA2306103148 | ATP8B1 | c.1804C= (p.Arg602=) c.1669C= c.1690C= (p.Arg564=) c.1084C= (p.Arg362=) c.1654C= (p.Arg552=) | |
| 18 | g.57674849G>T | CA504021186 | ATP8B1 | c.1804C>A (p.Arg602=) c.1669C>A c.1690C>A (p.Arg564=) c.1084C>A (p.Arg362=) c.1654C>A (p.Arg552=) | |
| 18 | g.57674850C>A | CA402560617 | ATP8B1 | c.1803G>T (p.Lys601Asn) c.1668G>T c.1689G>T (p.Lys563Asn) c.1083G>T (p.Lys361Asn) c.1653G>T (p.Lys551Asn) | |
| 18 | g.57674850C= | CA2306103149 | ATP8B1 | c.1803G= (p.Lys601=) c.1668G= c.1689G= (p.Lys563=) c.1083G= (p.Lys361=) c.1653G= (p.Lys551=) | |
| 18 | g.57674850C>G | CA8974477 | ATP8B1 | c.1803G>C (p.Lys601Asn) c.1668G>C c.1689G>C (p.Lys563Asn) c.1083G>C (p.Lys361Asn) c.1653G>C (p.Lys551Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674850C>T | CA8974478 | ATP8B1 | c.1803G>A (p.Lys601=) c.1668G>A c.1689G>A (p.Lys563=) c.1083G>A (p.Lys361=) c.1653G>A (p.Lys551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674851T>A | CA402560635 | ATP8B1 | c.1802A>T (p.Lys601Met) c.1667A>T c.1688A>T (p.Lys563Met) c.1082A>T (p.Lys361Met) c.1652A>T (p.Lys551Met) | |
| 18 | g.57674851T>C | CA8974479 | ATP8B1 | c.1802A>G (p.Lys601Arg) c.1667A>G c.1688A>G (p.Lys563Arg) c.1082A>G (p.Lys361Arg) c.1652A>G (p.Lys551Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674851T>G | CA402560636 | ATP8B1 | c.1802A>C (p.Lys601Thr) c.1667A>C c.1688A>C (p.Lys563Thr) c.1082A>C (p.Lys361Thr) c.1652A>C (p.Lys551Thr) | |
| 18 | g.57674851T= | CA2306103150 | ATP8B1 | c.1802A= (p.Lys601=) c.1667A= c.1688A= (p.Lys563=) c.1082A= (p.Lys361=) c.1652A= (p.Lys551=) | |
| 18 | g.57674852T>A | CA402560641 | ATP8B1 | c.1801A>T (p.Lys601Ter) c.1666A>T c.1687A>T (p.Lys563Ter) c.1081A>T (p.Lys361Ter) c.1651A>T (p.Lys551Ter) | |
| 18 | g.57674852T>C | CA402560643 | ATP8B1 | c.1801A>G (p.Lys601Glu) c.1666A>G c.1687A>G (p.Lys563Glu) c.1081A>G (p.Lys361Glu) c.1651A>G (p.Lys551Glu) | |
| 18 | g.57674852T>G | CA402560645 | ATP8B1 | c.1801A>C (p.Lys601Gln) c.1666A>C c.1687A>C (p.Lys563Gln) c.1081A>C (p.Lys361Gln) c.1651A>C (p.Lys551Gln) | |
| 18 | g.57674853C>A | CA504021189 | ATP8B1 | c.1800G>T (p.Arg600=) c.1665G>T c.1686G>T (p.Arg562=) c.1080G>T (p.Arg360=) c.1650G>T (p.Arg550=) | |
| 18 | g.57674853C>G | CA504021188 | ATP8B1 | c.1800G>C (p.Arg600=) c.1665G>C c.1686G>C (p.Arg562=) c.1080G>C (p.Arg360=) c.1650G>C (p.Arg550=) | |
| 18 | g.57674853C>T | CA504021187 | ATP8B1 | c.1800G>A (p.Arg600=) c.1665G>A c.1686G>A (p.Arg562=) c.1080G>A (p.Arg360=) c.1650G>A (p.Arg550=) | |
| 18 | g.57674854C>A | CA402560648 | ATP8B1 | c.1799G>T (p.Arg600Leu) c.1664G>T c.1685G>T (p.Arg562Leu) c.1079G>T (p.Arg360Leu) c.1649G>T (p.Arg550Leu) | |
| 18 | g.57674854C= | CA2306103151 | ATP8B1 | c.1799G= (p.Arg600=) c.1664G= c.1685G= (p.Arg562=) c.1079G= (p.Arg360=) c.1649G= (p.Arg550=) | |
| 18 | g.57674854C>G | CA402560650 | ATP8B1 | c.1799G>C (p.Arg600Pro) c.1664G>C c.1685G>C (p.Arg562Pro) c.1079G>C (p.Arg360Pro) c.1649G>C (p.Arg550Pro) | |
| 18 | g.57674854C>T | CA402560651 | ATP8B1 | c.1799G>A (p.Arg600Gln) c.1664G>A c.1685G>A (p.Arg562Gln) c.1079G>A (p.Arg360Gln) c.1649G>A (p.Arg550Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674855G>A | CA402560653 | ATP8B1 | c.1798C>T (p.Arg600Trp) c.1663C>T c.1684C>T (p.Arg562Trp) c.1078C>T (p.Arg360Trp) c.1648C>T (p.Arg550Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674855G>C | CA402560656 | ATP8B1 | c.1798C>G (p.Arg600Gly) c.1663C>G c.1684C>G (p.Arg562Gly) c.1078C>G (p.Arg360Gly) c.1648C>G (p.Arg550Gly) | |
| 18 | g.57674855G= | CA2306103152 | ATP8B1 | c.1798C= (p.Arg600=) c.1663C= c.1684C= (p.Arg562=) c.1078C= (p.Arg360=) c.1648C= (p.Arg550=) | |
| 18 | g.57674855G>T | CA8974480 | ATP8B1 | c.1798C>A (p.Arg600=) c.1663C>A c.1684C>A (p.Arg562=) c.1078C>A (p.Arg360=) c.1648C>A (p.Arg550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674856G>A | CA504021190 | ATP8B1 | c.1797C>T (p.Asp599=) c.1662C>T c.1683C>T (p.Asp561=) c.1077C>T (p.Asp359=) c.1647C>T (p.Asp549=) | gnomAD v4 |
| 18 | g.57674856G>C | CA402560659 | ATP8B1 | c.1797C>G (p.Asp599Glu) c.1662C>G c.1683C>G (p.Asp561Glu) c.1077C>G (p.Asp359Glu) c.1647C>G (p.Asp549Glu) | |
| 18 | g.57674856G>T | CA402560660 | ATP8B1 | c.1797C>A (p.Asp599Glu) c.1662C>A c.1683C>A (p.Asp561Glu) c.1077C>A (p.Asp359Glu) c.1647C>A (p.Asp549Glu) | gnomAD v4 |
| 18 | g.57674857T>A | CA402560666 | ATP8B1 | c.1796A>T (p.Asp599Val) c.1661A>T c.1682A>T (p.Asp561Val) c.1076A>T (p.Asp359Val) c.1646A>T (p.Asp549Val) | |
| 18 | g.57674857T>C | CA402560664 | ATP8B1 | c.1796A>G (p.Asp599Gly) c.1661A>G c.1682A>G (p.Asp561Gly) c.1076A>G (p.Asp359Gly) c.1646A>G (p.Asp549Gly) | |
| 18 | g.57674857T>G | CA402560662 | ATP8B1 | c.1796A>C (p.Asp599Ala) c.1661A>C c.1682A>C (p.Asp561Ala) c.1076A>C (p.Asp359Ala) c.1646A>C (p.Asp549Ala) | |
| 18 | g.57674858C>A | CA402560668 | ATP8B1 | c.1795G>T (p.Asp599Tyr) c.1660G>T c.1681G>T (p.Asp561Tyr) c.1075G>T (p.Asp359Tyr) c.1645G>T (p.Asp549Tyr) | gnomAD v4 |
| 18 | g.57674858C>G | CA402560672 | ATP8B1 | c.1795G>C (p.Asp599His) c.1660G>C c.1681G>C (p.Asp561His) c.1075G>C (p.Asp359His) c.1645G>C (p.Asp549His) | |
| 18 | g.57674858C>T | CA402560670 | ATP8B1 | c.1795G>A (p.Asp599Asn) c.1660G>A c.1681G>A (p.Asp561Asn) c.1075G>A (p.Asp359Asn) c.1645G>A (p.Asp549Asn) | gnomAD v4 |
| 18 | g.57674859A>C | CA402560673 | ATP8B1 | c.1794T>G (p.Ser598Arg) c.1659T>G c.1680T>G (p.Ser560Arg) c.1074T>G (p.Ser358Arg) c.1644T>G (p.Ser548Arg) | |
| 18 | g.57674859A>G | CA504021191 | ATP8B1 | c.1794T>C (p.Ser598=) c.1659T>C c.1680T>C (p.Ser560=) c.1074T>C (p.Ser358=) c.1644T>C (p.Ser548=) | |
| 18 | g.57674859A>T | CA402560675 | ATP8B1 | c.1794T>A (p.Ser598Arg) c.1659T>A c.1680T>A (p.Ser560Arg) c.1074T>A (p.Ser358Arg) c.1644T>A (p.Ser548Arg) | |
| 18 | g.57674860C>A | CA402560676 | ATP8B1 | c.1793G>T (p.Ser598Ile) c.1658G>T c.1679G>T (p.Ser560Ile) c.1073G>T (p.Ser358Ile) c.1643G>T (p.Ser548Ile) | |
| 18 | g.57674860C>G | CA402560682 | ATP8B1 | c.1793G>C (p.Ser598Thr) c.1658G>C c.1679G>C (p.Ser560Thr) c.1073G>C (p.Ser358Thr) c.1643G>C (p.Ser548Thr) | |
| 18 | g.57674860C>T | CA402560678 | ATP8B1 | c.1793G>A (p.Ser598Asn) c.1658G>A c.1679G>A (p.Ser560Asn) c.1073G>A (p.Ser358Asn) c.1643G>A (p.Ser548Asn) | |
| 18 | g.57674861T>A | CA402560684 | ATP8B1 | c.1792A>T (p.Ser598Cys) c.1657A>T c.1678A>T (p.Ser560Cys) c.1072A>T (p.Ser358Cys) c.1642A>T (p.Ser548Cys) | |
| 18 | g.57674861T>C | CA402560685 | ATP8B1 | c.1792A>G (p.Ser598Gly) c.1657A>G c.1678A>G (p.Ser560Gly) c.1072A>G (p.Ser358Gly) c.1642A>G (p.Ser548Gly) | |
| 18 | g.57674861T>G | CA402560686 | ATP8B1 | c.1792A>C (p.Ser598Arg) c.1657A>C c.1678A>C (p.Ser560Arg) c.1072A>C (p.Ser358Arg) c.1642A>C (p.Ser548Arg) | |
| 18 | g.57674862G>A | CA504021192 | ATP8B1 | c.1791C>T (p.Asn597=) c.1656C>T c.1677C>T (p.Asn559=) c.1071C>T (p.Asn357=) c.1641C>T (p.Asn547=) | gnomAD v4 |
| 18 | g.57674862G>C | CA402560687 | ATP8B1 | c.1791C>G (p.Asn597Lys) c.1656C>G c.1677C>G (p.Asn559Lys) c.1071C>G (p.Asn357Lys) c.1641C>G (p.Asn547Lys) | |
| 18 | g.57674862G>T | CA402560689 | ATP8B1 | c.1791C>A (p.Asn597Lys) c.1656C>A c.1677C>A (p.Asn559Lys) c.1071C>A (p.Asn357Lys) c.1641C>A (p.Asn547Lys) | |
| 18 | g.57674863T>A | CA402560691 | ATP8B1 | c.1790A>T (p.Asn597Ile) c.1655A>T c.1676A>T (p.Asn559Ile) c.1070A>T (p.Asn357Ile) c.1640A>T (p.Asn547Ile) | |
| 18 | g.57674863T>C | CA402560695 | ATP8B1 | c.1790A>G (p.Asn597Ser) c.1655A>G c.1676A>G (p.Asn559Ser) c.1070A>G (p.Asn357Ser) c.1640A>G (p.Asn547Ser) | |
| 18 | g.57674863T>G | CA402560696 | ATP8B1 | c.1790A>C (p.Asn597Thr) c.1655A>C c.1676A>C (p.Asn559Thr) c.1070A>C (p.Asn357Thr) c.1640A>C (p.Asn547Thr) | |
| 18 | g.57674864T>A | CA402560699 | ATP8B1 | c.1789A>T (p.Asn597Tyr) c.1654A>T c.1675A>T (p.Asn559Tyr) c.1069A>T (p.Asn357Tyr) c.1639A>T (p.Asn547Tyr) | |
| 18 | g.57674864T>C | CA402560701 | ATP8B1 | c.1789A>G (p.Asn597Asp) c.1654A>G c.1675A>G (p.Asn559Asp) c.1069A>G (p.Asn357Asp) c.1639A>G (p.Asn547Asp) | |
| 18 | g.57674864T>G | CA402560703 | ATP8B1 | c.1789A>C (p.Asn597His) c.1654A>C c.1675A>C (p.Asn559His) c.1069A>C (p.Asn357His) c.1639A>C (p.Asn547His) | |
| 18 | g.57674865G>A | CA504021193 | ATP8B1 | c.1788C>T (p.Phe596=) c.1653C>T c.1674C>T (p.Phe558=) c.1068C>T (p.Phe356=) c.1638C>T (p.Phe546=) | |
| 18 | g.57674865G>C | CA8974481 | ATP8B1 | c.1788C>G (p.Phe596Leu) c.1653C>G c.1674C>G (p.Phe558Leu) c.1068C>G (p.Phe356Leu) c.1638C>G (p.Phe546Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674865G= | CA2306103153 | ATP8B1 | c.1788C= (p.Phe596=) c.1653C= c.1674C= (p.Phe558=) c.1068C= (p.Phe356=) c.1638C= (p.Phe546=) | |
| 18 | g.57674865G>T | CA402560706 | ATP8B1 | c.1788C>A (p.Phe596Leu) c.1653C>A c.1674C>A (p.Phe558Leu) c.1068C>A (p.Phe356Leu) c.1638C>A (p.Phe546Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57674866A>C | CA402560709 | ATP8B1 | c.1787T>G (p.Phe596Cys) c.1652T>G c.1673T>G (p.Phe558Cys) c.1067T>G (p.Phe356Cys) c.1637T>G (p.Phe546Cys) | |
| 18 | g.57674866A>G | CA402560712 | ATP8B1 | c.1787T>C (p.Phe596Ser) c.1652T>C c.1673T>C (p.Phe558Ser) c.1067T>C (p.Phe356Ser) c.1637T>C (p.Phe546Ser) | |
| 18 | g.57674866A>T | CA402560713 | ATP8B1 | c.1787T>A (p.Phe596Tyr) c.1652T>A c.1673T>A (p.Phe558Tyr) c.1067T>A (p.Phe356Tyr) c.1637T>A (p.Phe546Tyr) | |
| 18 | g.57674867A>C | CA402560720 | ATP8B1 | c.1786T>G (p.Phe596Val) c.1651T>G c.1672T>G (p.Phe558Val) c.1066T>G (p.Phe356Val) c.1636T>G (p.Phe546Val) | |
| 18 | g.57674867A>G | CA402560721 | ATP8B1 | c.1786T>C (p.Phe596Leu) c.1651T>C c.1672T>C (p.Phe558Leu) c.1066T>C (p.Phe356Leu) c.1636T>C (p.Phe546Leu) | |
| 18 | g.57674867A>T | CA402560722 | ATP8B1 | c.1786T>A (p.Phe596Ile) c.1651T>A c.1672T>A (p.Phe558Ile) c.1066T>A (p.Phe356Ile) c.1636T>A (p.Phe546Ile) | |
| 18 | g.57674868G>A | CA504021194 | ATP8B1 | c.1785C>T (p.Asp595=) c.1650C>T c.1671C>T (p.Asp557=) c.1065C>T (p.Asp355=) c.1635C>T (p.Asp545=) | gnomAD v4 |
| 18 | g.57674868G>C | CA402560724 | ATP8B1 | c.1785C>G (p.Asp595Glu) c.1650C>G c.1671C>G (p.Asp557Glu) c.1065C>G (p.Asp355Glu) c.1635C>G (p.Asp545Glu) | dbSNP |
| 18 | g.57674868G= | CA2306103154 | ATP8B1 | c.1785C= (p.Asp595=) c.1650C= c.1671C= (p.Asp557=) c.1065C= (p.Asp355=) c.1635C= (p.Asp545=) | |
| 18 | g.57674868G>T | CA402560726 | ATP8B1 | c.1785C>A (p.Asp595Glu) c.1650C>A c.1671C>A (p.Asp557Glu) c.1065C>A (p.Asp355Glu) c.1635C>A (p.Asp545Glu) | |
| 18 | g.57674869T>A | CA402560730 | ATP8B1 | c.1784A>T (p.Asp595Val) c.1649A>T c.1670A>T (p.Asp557Val) c.1064A>T (p.Asp355Val) c.1634A>T (p.Asp545Val) | |
| 18 | g.57674869T>C | CA402560731 | ATP8B1 | c.1784A>G (p.Asp595Gly) c.1649A>G c.1670A>G (p.Asp557Gly) c.1064A>G (p.Asp355Gly) c.1634A>G (p.Asp545Gly) | |
| 18 | g.57674869T>G | CA402560734 | ATP8B1 | c.1784A>C (p.Asp595Ala) c.1649A>C c.1670A>C (p.Asp557Ala) c.1064A>C (p.Asp355Ala) c.1634A>C (p.Asp545Ala) | |
| 18 | g.57674870C>A | CA402560739 | ATP8B1 | c.1783G>T (p.Asp595Tyr) c.1648G>T c.1669G>T (p.Asp557Tyr) c.1063G>T (p.Asp355Tyr) c.1633G>T (p.Asp545Tyr) | |
| 18 | g.57674870C>G | CA402560741 | ATP8B1 | c.1783G>C (p.Asp595His) c.1648G>C c.1669G>C (p.Asp557His) c.1063G>C (p.Asp355His) c.1633G>C (p.Asp545His) | COSMIC |
| 18 | g.57674870C>T | CA402560737 | ATP8B1 | c.1783G>A (p.Asp595Asn) c.1648G>A c.1669G>A (p.Asp557Asn) c.1063G>A (p.Asp355Asn) c.1633G>A (p.Asp545Asn) | |
| 18 | g.57674871C>A | CA402560742 | ATP8B1 | c.1782G>T (p.Leu594Phe) c.1647G>T c.1668G>T (p.Leu556Phe) c.1062G>T (p.Leu354Phe) c.1632G>T (p.Leu544Phe) | |
| 18 | g.57674871C>G | CA402560743 | ATP8B1 | c.1782G>C (p.Leu594Phe) c.1647G>C c.1668G>C (p.Leu556Phe) c.1062G>C (p.Leu354Phe) c.1632G>C (p.Leu544Phe) | |
| 18 | g.57674871C>T | CA504021195 | ATP8B1 | c.1782G>A (p.Leu594=) c.1647G>A c.1668G>A (p.Leu556=) c.1062G>A (p.Leu354=) c.1632G>A (p.Leu544=) | gnomAD v4 |
| 18 | g.57674872A>C | CA402560744 | ATP8B1 | c.1781T>G (p.Leu594Trp) c.1646T>G c.1667T>G (p.Leu556Trp) c.1061T>G (p.Leu354Trp) c.1631T>G (p.Leu544Trp) | ClinVar |
| 18 | g.57674872A>G | CA402560747 | ATP8B1 | c.1781T>C (p.Leu594Ser) c.1646T>C c.1667T>C (p.Leu556Ser) c.1061T>C (p.Leu354Ser) c.1631T>C (p.Leu544Ser) | |
| 18 | g.57674872A>T | CA402560749 | ATP8B1 | c.1781T>A (p.Leu594Ter) c.1646T>A c.1667T>A (p.Leu556Ter) c.1061T>A (p.Leu354Ter) c.1631T>A (p.Leu544Ter) | ClinVar gnomAD v4 |
| 18 | g.57674873A>C | CA402560752 | ATP8B1 | c.1780T>G (p.Leu594Val) c.1645T>G c.1666T>G (p.Leu556Val) c.1060T>G (p.Leu354Val) c.1630T>G (p.Leu544Val) | |
| 18 | g.57674873A>G | CA504021196 | ATP8B1 | c.1780T>C (p.Leu594=) c.1645T>C c.1666T>C (p.Leu556=) c.1060T>C (p.Leu354=) c.1630T>C (p.Leu544=) | |
| 18 | g.57674873A>T | CA402560753 | ATP8B1 | c.1780T>A (p.Leu594Met) c.1645T>A c.1666T>A (p.Leu556Met) c.1060T>A (p.Leu354Met) c.1630T>A (p.Leu544Met) | |
| 18 | g.57674874A= | CA2306103155 | ATP8B1 | c.1779T= (p.Ile593=) c.1644T= c.1665T= (p.Ile555=) c.1059T= (p.Ile353=) c.1629T= (p.Ile543=) | |
| 18 | g.57674874A>C | CA402560754 | ATP8B1 | c.1779T>G (p.Ile593Met) c.1644T>G c.1665T>G (p.Ile555Met) c.1059T>G (p.Ile353Met) c.1629T>G (p.Ile543Met) | |
| 18 | g.57674874A>G | CA504021197 | ATP8B1 | c.1779T>C (p.Ile593=) c.1644T>C c.1665T>C (p.Ile555=) c.1059T>C (p.Ile353=) c.1629T>C (p.Ile543=) | dbSNP |
| 18 | g.57674874A>T | CA504021198 | ATP8B1 | c.1779T>A (p.Ile593=) c.1644T>A c.1665T>A (p.Ile555=) c.1059T>A (p.Ile353=) c.1629T>A (p.Ile543=) | |
| 18 | g.57674875A>C | CA402560756 | ATP8B1 | c.1778T>G (p.Ile593Ser) c.1643T>G c.1664T>G (p.Ile555Ser) c.1058T>G (p.Ile353Ser) c.1628T>G (p.Ile543Ser) | |
| 18 | g.57674875A>G | CA402560757 | ATP8B1 | c.1778T>C (p.Ile593Thr) c.1643T>C c.1664T>C (p.Ile555Thr) c.1058T>C (p.Ile353Thr) c.1628T>C (p.Ile543Thr) | |
| 18 | g.57674875A>T | CA402560761 | ATP8B1 | c.1778T>A (p.Ile593Asn) c.1643T>A c.1664T>A (p.Ile555Asn) c.1058T>A (p.Ile353Asn) c.1628T>A (p.Ile543Asn) | |
| 18 | g.57674876T>A | CA402560763 | ATP8B1 | c.1777A>T (p.Ile593Phe) c.1642A>T c.1663A>T (p.Ile555Phe) c.1057A>T (p.Ile353Phe) c.1627A>T (p.Ile543Phe) | dbSNP |
| 18 | g.57674876T>C | CA402560764 | ATP8B1 | c.1777A>G (p.Ile593Val) c.1642A>G c.1663A>G (p.Ile555Val) c.1057A>G (p.Ile353Val) c.1627A>G (p.Ile543Val) | |
| 18 | g.57674876T>G | CA8974482 | ATP8B1 | c.1777A>C (p.Ile593Leu) c.1642A>C c.1663A>C (p.Ile555Leu) c.1057A>C (p.Ile353Leu) c.1627A>C (p.Ile543Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674876T= | CA2306103156 | ATP8B1 | c.1777A= (p.Ile593=) c.1642A= c.1663A= (p.Ile555=) c.1057A= (p.Ile353=) c.1627A= (p.Ile543=) | |
| 18 | g.57674877G>A | CA504021199 | ATP8B1 | c.1776C>T (p.Ala592=) c.1641C>T c.1662C>T (p.Ala554=) c.1056C>T (p.Ala352=) c.1626C>T (p.Ala542=) | |
| 18 | g.57674877G>C | CA504021200 | ATP8B1 | c.1776C>G (p.Ala592=) c.1641C>G c.1662C>G (p.Ala554=) c.1056C>G (p.Ala352=) c.1626C>G (p.Ala542=) | |
| 18 | g.57674877G>T | CA504021201 | ATP8B1 | c.1776C>A (p.Ala592=) c.1641C>A c.1662C>A (p.Ala554=) c.1056C>A (p.Ala352=) c.1626C>A (p.Ala542=) | |
| 18 | g.57674878G>A | CA402560775 | ATP8B1 | c.1775C>T (p.Ala592Val) c.1640C>T c.1661C>T (p.Ala554Val) c.1055C>T (p.Ala352Val) c.1625C>T (p.Ala542Val) | gnomAD v4 |
| 18 | g.57674878G>C | CA402560779 | ATP8B1 | c.1775C>G (p.Ala592Gly) c.1640C>G c.1661C>G (p.Ala554Gly) c.1055C>G (p.Ala352Gly) c.1625C>G (p.Ala542Gly) | |
| 18 | g.57674878G>T | CA402560777 | ATP8B1 | c.1775C>A (p.Ala592Asp) c.1640C>A c.1661C>A (p.Ala554Asp) c.1055C>A (p.Ala352Asp) c.1625C>A (p.Ala542Asp) | |
| 18 | g.57674879C>A | CA402560783 | ATP8B1 | c.1774G>T (p.Ala592Ser) c.1639G>T c.1660G>T (p.Ala554Ser) c.1054G>T (p.Ala352Ser) c.1624G>T (p.Ala542Ser) | |
| 18 | g.57674879C>G | CA402560786 | ATP8B1 | c.1774G>C (p.Ala592Pro) c.1639G>C c.1660G>C (p.Ala554Pro) c.1054G>C (p.Ala352Pro) c.1624G>C (p.Ala542Pro) | |
| 18 | g.57674879C>T | CA402560791 | ATP8B1 | c.1774G>A (p.Ala592Thr) c.1639G>A c.1660G>A (p.Ala554Thr) c.1054G>A (p.Ala352Thr) c.1624G>A (p.Ala542Thr) | |
| 18 | g.57674880A>C | CA504021204 | ATP8B1 | c.1773T>G (p.Leu591=) c.1638T>G c.1659T>G (p.Leu553=) c.1053T>G (p.Leu351=) c.1623T>G (p.Leu541=) | |
| 18 | g.57674880A>G | CA504021202 | ATP8B1 | c.1773T>C (p.Leu591=) c.1638T>C c.1659T>C (p.Leu553=) c.1053T>C (p.Leu351=) c.1623T>C (p.Leu541=) | |
| 18 | g.57674880A>T | CA504021203 | ATP8B1 | c.1773T>A (p.Leu591=) c.1638T>A c.1659T>A (p.Leu553=) c.1053T>A (p.Leu351=) c.1623T>A (p.Leu541=) | |
| 18 | g.57674881A>C | CA402560795 | ATP8B1 | c.1772T>G (p.Leu591Arg) c.1637T>G c.1658T>G (p.Leu553Arg) c.1052T>G (p.Leu351Arg) c.1622T>G (p.Leu541Arg) | |
| 18 | g.57674881A>G | CA402560798 | ATP8B1 | c.1772T>C (p.Leu591Pro) c.1637T>C c.1658T>C (p.Leu553Pro) c.1052T>C (p.Leu351Pro) c.1622T>C (p.Leu541Pro) | |
| 18 | g.57674881A>T | CA402560800 | ATP8B1 | c.1772T>A (p.Leu591His) c.1637T>A c.1658T>A (p.Leu553His) c.1052T>A (p.Leu351His) c.1622T>A (p.Leu541His) | |
| 18 | g.57674882G>A | CA402560805 | ATP8B1 | c.1771C>T (p.Leu591Phe) c.1636C>T c.1657C>T (p.Leu553Phe) c.1051C>T (p.Leu351Phe) c.1621C>T (p.Leu541Phe) | |
| 18 | g.57674882G>C | CA402560816 | ATP8B1 | c.1771C>G (p.Leu591Val) c.1636C>G c.1657C>G (p.Leu553Val) c.1051C>G (p.Leu351Val) c.1621C>G (p.Leu541Val) | gnomAD v4 |
| 18 | g.57674882G>T | CA402560819 | ATP8B1 | c.1771C>A (p.Leu591Ile) c.1636C>A c.1657C>A (p.Leu553Ile) c.1051C>A (p.Leu351Ile) c.1621C>A (p.Leu541Ile) | gnomAD v4 |
| 18 | g.57674883A>C | CA504021205 | ATP8B1 | c.1770T>G (p.Val590=) c.1635T>G c.1656T>G (p.Val552=) c.1050T>G (p.Val350=) c.1620T>G (p.Val540=) | |
| 18 | g.57674883A>G | CA504021206 | ATP8B1 | c.1770T>C (p.Val590=) c.1635T>C c.1656T>C (p.Val552=) c.1050T>C (p.Val350=) c.1620T>C (p.Val540=) | dbSNP |
| 18 | g.57674883A>T | CA504021207 | ATP8B1 | c.1770T>A (p.Val590=) c.1635T>A c.1656T>A (p.Val552=) c.1050T>A (p.Val350=) c.1620T>A (p.Val540=) | |
| 18 | g.57674884A>C | CA402560823 | ATP8B1 | c.1769T>G (p.Val590Gly) c.1634T>G c.1655T>G (p.Val552Gly) c.1049T>G (p.Val350Gly) c.1619T>G (p.Val540Gly) | COSMIC |
| 18 | g.57674884A>G | CA402560827 | ATP8B1 | c.1769T>C (p.Val590Ala) c.1634T>C c.1655T>C (p.Val552Ala) c.1049T>C (p.Val350Ala) c.1619T>C (p.Val540Ala) | |
| 18 | g.57674884A>T | CA402560831 | ATP8B1 | c.1769T>A (p.Val590Asp) c.1634T>A c.1655T>A (p.Val552Asp) c.1049T>A (p.Val350Asp) c.1619T>A (p.Val540Asp) | |
| 18 | g.57674885C>A | CA402560843 | ATP8B1 | c.1768G>T (p.Val590Phe) c.1633G>T c.1654G>T (p.Val552Phe) c.1048G>T (p.Val350Phe) c.1618G>T (p.Val540Phe) | |
| 18 | g.57674885C= | CA2306103157 | ATP8B1 | c.1768G= (p.Val590=) c.1633G= c.1654G= (p.Val552=) c.1048G= (p.Val350=) c.1618G= (p.Val540=) | |
| 18 | g.57674885C>G | CA8974483 | ATP8B1 | c.1768G>C (p.Val590Leu) c.1633G>C c.1654G>C (p.Val552Leu) c.1048G>C (p.Val350Leu) c.1618G>C (p.Val540Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674885C>T | CA402560836 | ATP8B1 | c.1768G>A (p.Val590Ile) c.1633G>A c.1654G>A (p.Val552Ile) c.1048G>A (p.Val350Ile) c.1618G>A (p.Val540Ile) | |
| 18 | g.57674886A= | CA2306103158 | ATP8B1 | c.1767T= (p.Asn589=) c.1632T= c.1653T= (p.Asn551=) c.1047T= (p.Asn349=) c.1617T= (p.Asn539=) | |
| 18 | g.57674886A>C | CA402560848 | ATP8B1 | c.1767T>G (p.Asn589Lys) c.1632T>G c.1653T>G (p.Asn551Lys) c.1047T>G (p.Asn349Lys) c.1617T>G (p.Asn539Lys) | |
| 18 | g.57674886A>G | CA504021208 | ATP8B1 | c.1767T>C (p.Asn589=) c.1632T>C c.1653T>C (p.Asn551=) c.1047T>C (p.Asn349=) c.1617T>C (p.Asn539=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674886A>T | CA402560847 | ATP8B1 | c.1767T>A (p.Asn589Lys) c.1632T>A c.1653T>A (p.Asn551Lys) c.1047T>A (p.Asn349Lys) c.1617T>A (p.Asn539Lys) | |
| 18 | g.57674887T>A | CA402560849 | ATP8B1 | c.1766A>T (p.Asn589Ile) c.1631A>T c.1652A>T (p.Asn551Ile) c.1046A>T (p.Asn349Ile) c.1616A>T (p.Asn539Ile) | |
| 18 | g.57674887T>C | CA402560853 | ATP8B1 | c.1766A>G (p.Asn589Ser) c.1631A>G c.1652A>G (p.Asn551Ser) c.1046A>G (p.Asn349Ser) c.1616A>G (p.Asn539Ser) | gnomAD v4 |
| 18 | g.57674887T>G | CA402560859 | ATP8B1 | c.1766A>C (p.Asn589Thr) c.1631A>C c.1652A>C (p.Asn551Thr) c.1046A>C (p.Asn349Thr) c.1616A>C (p.Asn539Thr) | |
| 18 | g.57674888T>A | CA402560863 | ATP8B1 | c.1765A>T (p.Asn589Tyr) c.1630A>T c.1651A>T (p.Asn551Tyr) c.1045A>T (p.Asn349Tyr) c.1615A>T (p.Asn539Tyr) | |
| 18 | g.57674888T>C | CA402560866 | ATP8B1 | c.1765A>G (p.Asn589Asp) c.1630A>G c.1651A>G (p.Asn551Asp) c.1045A>G (p.Asn349Asp) c.1615A>G (p.Asn539Asp) | gnomAD v4 |
| 18 | g.57674888T>G | CA402560868 | ATP8B1 | c.1765A>C (p.Asn589His) c.1630A>C c.1651A>C (p.Asn551His) c.1045A>C (p.Asn349His) c.1615A>C (p.Asn539His) | |
| 18 | g.57674889G>A | CA504021209 | ATP8B1 | c.1764C>T (p.Tyr588=) c.1629C>T c.1650C>T (p.Tyr550=) c.1044C>T (p.Tyr348=) c.1614C>T (p.Tyr538=) | ClinVar gnomAD v4 |
| 18 | g.57674889G>C | CA402560871 | ATP8B1 | c.1764C>G (p.Tyr588Ter) c.1629C>G c.1650C>G (p.Tyr550Ter) c.1044C>G (p.Tyr348Ter) c.1614C>G (p.Tyr538Ter) | gnomAD v4 |
| 18 | g.57674889G>T | CA402560870 | ATP8B1 | c.1764C>A (p.Tyr588Ter) c.1629C>A c.1650C>A (p.Tyr550Ter) c.1044C>A (p.Tyr348Ter) c.1614C>A (p.Tyr538Ter) | gnomAD v4 |
| 18 | g.57674890T>A | CA402560872 | ATP8B1 | c.1763A>T (p.Tyr588Phe) c.1628A>T c.1649A>T (p.Tyr550Phe) c.1043A>T (p.Tyr348Phe) c.1613A>T (p.Tyr538Phe) | |
| 18 | g.57674890T>C | CA402560874 | ATP8B1 | c.1763A>G (p.Tyr588Cys) c.1628A>G c.1649A>G (p.Tyr550Cys) c.1043A>G (p.Tyr348Cys) c.1613A>G (p.Tyr538Cys) | |
| 18 | g.57674890T>G | CA402560877 | ATP8B1 | c.1763A>C (p.Tyr588Ser) c.1628A>C c.1649A>C (p.Tyr550Ser) c.1043A>C (p.Tyr348Ser) c.1613A>C (p.Tyr538Ser) | |
| 18 | g.57674891A>C | CA402560881 | ATP8B1 | c.1762T>G (p.Tyr588Asp) c.1627T>G c.1648T>G (p.Tyr550Asp) c.1042T>G (p.Tyr348Asp) c.1612T>G (p.Tyr538Asp) | |
| 18 | g.57674891A>G | CA402560885 | ATP8B1 | c.1762T>C (p.Tyr588His) c.1627T>C c.1648T>C (p.Tyr550His) c.1042T>C (p.Tyr348His) c.1612T>C (p.Tyr538His) | |
| 18 | g.57674891A>T | CA402560887 | ATP8B1 | c.1762T>A (p.Tyr588Asn) c.1627T>A c.1648T>A (p.Tyr550Asn) c.1042T>A (p.Tyr348Asn) c.1612T>A (p.Tyr538Asn) | |
| 18 | g.57674892A>C | CA504021210 | ATP8B1 | c.1761T>G (p.Thr587=) c.1626T>G c.1647T>G (p.Thr549=) c.1041T>G (p.Thr347=) c.1611T>G (p.Thr537=) | |
| 18 | g.57674892A>G | CA504021212 | ATP8B1 | c.1761T>C (p.Thr587=) c.1626T>C c.1647T>C (p.Thr549=) c.1041T>C (p.Thr347=) c.1611T>C (p.Thr537=) | |
| 18 | g.57674892A>T | CA504021211 | ATP8B1 | c.1761T>A (p.Thr587=) c.1626T>A c.1647T>A (p.Thr549=) c.1041T>A (p.Thr347=) c.1611T>A (p.Thr537=) | |
| 18 | g.57674893G>A | CA402560890 | ATP8B1 | c.1760C>T (p.Thr587Ile) c.1625C>T c.1646C>T (p.Thr549Ile) c.1040C>T (p.Thr347Ile) c.1610C>T (p.Thr537Ile) | |
| 18 | g.57674893G>C | CA402560894 | ATP8B1 | c.1760C>G (p.Thr587Ser) c.1625C>G c.1646C>G (p.Thr549Ser) c.1040C>G (p.Thr347Ser) c.1610C>G (p.Thr537Ser) | |
| 18 | g.57674893G>T | CA402560892 | ATP8B1 | c.1760C>A (p.Thr587Asn) c.1625C>A c.1646C>A (p.Thr549Asn) c.1040C>A (p.Thr347Asn) c.1610C>A (p.Thr537Asn) | |
| 18 | g.57674894T>A | CA402560898 | ATP8B1 | c.1759A>T (p.Thr587Ser) c.1624A>T c.1645A>T (p.Thr549Ser) c.1039A>T (p.Thr347Ser) c.1609A>T (p.Thr537Ser) | |
| 18 | g.57674894T>C | CA402560902 | ATP8B1 | c.1759A>G (p.Thr587Ala) c.1624A>G c.1645A>G (p.Thr549Ala) c.1039A>G (p.Thr347Ala) c.1609A>G (p.Thr537Ala) | gnomAD v4 |
| 18 | g.57674894T>G | CA402560903 | ATP8B1 | c.1759A>C (p.Thr587Pro) c.1624A>C c.1645A>C (p.Thr549Pro) c.1039A>C (p.Thr347Pro) c.1609A>C (p.Thr537Pro) | |
| 18 | g.57674895C>A | CA402560909 | ATP8B1 | c.1758G>T (p.Arg586Ser) c.1623G>T c.1644G>T (p.Arg548Ser) c.1038G>T (p.Arg346Ser) c.1608G>T (p.Arg536Ser) | |
| 18 | g.57674895C>G | CA402560910 | ATP8B1 | c.1758G>C (p.Arg586Ser) c.1623G>C c.1644G>C (p.Arg548Ser) c.1038G>C (p.Arg346Ser) c.1608G>C (p.Arg536Ser) | |
| 18 | g.57674895C>T | CA504021213 | ATP8B1 | c.1758G>A (p.Arg586=) c.1623G>A c.1644G>A (p.Arg548=) c.1038G>A (p.Arg346=) c.1608G>A (p.Arg536=) | |
| 18 | g.57674896C>A | CA8974484 | ATP8B1 | c.1757G>T (p.Arg586Met) c.1622G>T c.1643G>T (p.Arg548Met) c.1037G>T (p.Arg346Met) c.1607G>T (p.Arg536Met) | dbSNP ExAC gnomAD v2 |
| 18 | g.57674896C= | CA2306103159 | ATP8B1 | c.1757G= (p.Arg586=) c.1622G= c.1643G= (p.Arg548=) c.1037G= (p.Arg346=) c.1607G= (p.Arg536=) | |
| 18 | g.57674896C>G | CA402560919 | ATP8B1 | c.1757G>C (p.Arg586Thr) c.1622G>C c.1643G>C (p.Arg548Thr) c.1037G>C (p.Arg346Thr) c.1607G>C (p.Arg536Thr) | |
| 18 | g.57674896C>T | CA300889105 | ATP8B1 | c.1757G>A (p.Arg586Lys) c.1622G>A c.1643G>A (p.Arg548Lys) c.1037G>A (p.Arg346Lys) c.1607G>A (p.Arg536Lys) | dbSNP gnomAD v4 |
| 18 | g.57674897T>A | CA402560930 | ATP8B1 | c.1756A>T (p.Arg586Trp) c.1621A>T c.1642A>T (p.Arg548Trp) c.1036A>T (p.Arg346Trp) c.1606A>T (p.Arg536Trp) | |
| 18 | g.57674897T>C | CA402560931 | ATP8B1 | c.1756A>G (p.Arg586Gly) c.1621A>G c.1642A>G (p.Arg548Gly) c.1036A>G (p.Arg346Gly) c.1606A>G (p.Arg536Gly) | |
| 18 | g.57674897T>G | CA504021214 | ATP8B1 | c.1756A>C (p.Arg586=) c.1621A>C c.1642A>C (p.Arg548=) c.1036A>C (p.Arg346=) c.1606A>C (p.Arg536=) | |
| 18 | g.57674898T>A | CA402560933 | ATP8B1 | c.1755A>T (p.Glu585Asp) c.1620A>T c.1641A>T (p.Glu547Asp) c.1035A>T (p.Glu345Asp) c.1605A>T (p.Glu535Asp) | |
| 18 | g.57674898T>C | CA504021215 | ATP8B1 | c.1755A>G (p.Glu585=) c.1620A>G c.1641A>G (p.Glu547=) c.1035A>G (p.Glu345=) c.1605A>G (p.Glu535=) | |
| 18 | g.57674898T>G | CA402560939 | ATP8B1 | c.1755A>C (p.Glu585Asp) c.1620A>C c.1641A>C (p.Glu547Asp) c.1035A>C (p.Glu345Asp) c.1605A>C (p.Glu535Asp) | |
| 18 | g.57674899T>A | CA402560942 | ATP8B1 | c.1754A>T (p.Glu585Val) c.1619A>T c.1640A>T (p.Glu547Val) c.1034A>T (p.Glu345Val) c.1604A>T (p.Glu535Val) | |
| 18 | g.57674899T>C | CA8974485 | ATP8B1 | c.1754A>G (p.Glu585Gly) c.1619A>G c.1640A>G (p.Glu547Gly) c.1034A>G (p.Glu345Gly) c.1604A>G (p.Glu535Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674899T>G | CA402560944 | ATP8B1 | c.1754A>C (p.Glu585Ala) c.1619A>C c.1640A>C (p.Glu547Ala) c.1034A>C (p.Glu345Ala) c.1604A>C (p.Glu535Ala) | |
| 18 | g.57674899T= | CA2306103160 | ATP8B1 | c.1754A= (p.Glu585=) c.1619A= c.1640A= (p.Glu547=) c.1034A= (p.Glu345=) c.1604A= (p.Glu535=) |