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 |
|---|---|---|---|---|---|
| 3 | g.123319658A= | CA1398343527 | ADCY5 | c.933+16T= (n.933+16T=) c.1221+16T= (n.1221+16T=) c.2256+16T= (n.2256+16T=) n.515+16T= c.1206+16T= (n.1206+16T=) c.1155+16T= (n.1155+16T=) c.1257+16T= (n.1257+16T=) c.1167+16T= (n.1167+16T=) c.1158+16T= (n.1158+16T=) | |
| 3 | g.123319658A>C | CA2577206 | ADCY5 | c.933+16T>G (n.933+16T>G) c.1221+16T>G (n.1221+16T>G) c.2256+16T>G (n.2256+16T>G) n.515+16T>G c.1206+16T>G (n.1206+16T>G) c.1155+16T>G (n.1155+16T>G) c.1257+16T>G (n.1257+16T>G) c.1167+16T>G (n.1167+16T>G) c.1158+16T>G (n.1158+16T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319658_123319659insAA | CA2667293320 | ADCY5 | c.933+16_933+17insTT (n.933+16_933+17insTT) c.1221+16_1221+17insTT (n.1221+16_1221+17insTT) c.2256+16_2256+17insTT (n.2256+16_2256+17insTT) n.515+16_515+17insTT c.1206+16_1206+17insTT (n.1206+16_1206+17insTT) c.1155+16_1155+17insTT (n.1155+16_1155+17insTT) c.1257+16_1257+17insTT (n.1257+16_1257+17insTT) c.1167+16_1167+17insTT (n.1167+16_1167+17insTT) c.1158+16_1158+17insTT (n.1158+16_1158+17insTT) | gnomAD v4 |
| 3 | g.123319659C>T | CA2577875109 | ADCY5 | c.933+15G>A (n.933+15G>A) c.1221+15G>A (n.1221+15G>A) c.2256+15G>A (n.2256+15G>A) n.515+15G>A c.1206+15G>A (n.1206+15G>A) c.1155+15G>A (n.1155+15G>A) c.1257+15G>A (n.1257+15G>A) c.1167+15G>A (n.1167+15G>A) c.1158+15G>A (n.1158+15G>A) | gnomAD v4 |
| 3 | g.123319660C>T | CA2667293321 | ADCY5 | c.933+14G>A (n.933+14G>A) c.1221+14G>A (n.1221+14G>A) c.2256+14G>A (n.2256+14G>A) n.515+14G>A c.1206+14G>A (n.1206+14G>A) c.1155+14G>A (n.1155+14G>A) c.1257+14G>A (n.1257+14G>A) c.1167+14G>A (n.1167+14G>A) c.1158+14G>A (n.1158+14G>A) | gnomAD v4 |
| 3 | g.123319662A= | CA1398343528 | ADCY5 | c.933+12T= (n.933+12T=) c.1221+12T= (n.1221+12T=) c.2256+12T= (n.2256+12T=) n.515+12T= c.1206+12T= (n.1206+12T=) c.1155+12T= (n.1155+12T=) c.1257+12T= (n.1257+12T=) c.1167+12T= (n.1167+12T=) c.1158+12T= (n.1158+12T=) | |
| 3 | g.123319662A>C | CA545685466 | ADCY5 | c.933+12T>G (n.933+12T>G) c.1221+12T>G (n.1221+12T>G) c.2256+12T>G (n.2256+12T>G) n.515+12T>G c.1206+12T>G (n.1206+12T>G) c.1155+12T>G (n.1155+12T>G) c.1257+12T>G (n.1257+12T>G) c.1167+12T>G (n.1167+12T>G) c.1158+12T>G (n.1158+12T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319664G>A | CA2667293322 | ADCY5 | c.933+10C>T (n.933+10C>T) c.1221+10C>T (n.1221+10C>T) c.2256+10C>T (n.2256+10C>T) n.515+10C>T c.1206+10C>T (n.1206+10C>T) c.1155+10C>T (n.1155+10C>T) c.1257+10C>T (n.1257+10C>T) c.1167+10C>T (n.1167+10C>T) c.1158+10C>T (n.1158+10C>T) | gnomAD v4 |
| 3 | g.123319665G>A | CA82896070 | ADCY5 | c.933+9C>T (n.933+9C>T) c.1221+9C>T (n.1221+9C>T) c.2256+9C>T (n.2256+9C>T) n.515+9C>T c.1206+9C>T (n.1206+9C>T) c.1155+9C>T (n.1155+9C>T) c.1257+9C>T (n.1257+9C>T) c.1167+9C>T (n.1167+9C>T) c.1158+9C>T (n.1158+9C>T) | dbSNP gnomAD v2 |
| 3 | g.123319665G= | CA1398343529 | ADCY5 | c.933+9C= (n.933+9C=) c.1221+9C= (n.1221+9C=) c.2256+9C= (n.2256+9C=) n.515+9C= c.1206+9C= (n.1206+9C=) c.1155+9C= (n.1155+9C=) c.1257+9C= (n.1257+9C=) c.1167+9C= (n.1167+9C=) c.1158+9C= (n.1158+9C=) | |
| 3 | g.123319666_123319669dup | CA2667293323 | ADCY5 | c.933+5_933+8dup (n.933+5_933+8dup) c.1221+5_1221+8dup (n.1221+5_1221+8dup) c.2256+5_2256+8dup (n.2256+5_2256+8dup) n.515+5_515+8dup c.1206+5_1206+8dup (n.1206+5_1206+8dup) c.1155+5_1155+8dup (n.1155+5_1155+8dup) c.1257+5_1257+8dup (n.1257+5_1257+8dup) c.1167+5_1167+8dup (n.1167+5_1167+8dup) c.1158+5_1158+8dup (n.1158+5_1158+8dup) | gnomAD v4 |
| 3 | g.123319668C>G | CA2667293324 | ADCY5 | c.933+6G>C (n.933+6G>C) c.1221+6G>C (n.1221+6G>C) c.2256+6G>C (n.2256+6G>C) n.515+6G>C c.1206+6G>C (n.1206+6G>C) c.1155+6G>C (n.1155+6G>C) c.1257+6G>C (n.1257+6G>C) c.1167+6G>C (n.1167+6G>C) c.1158+6G>C (n.1158+6G>C) | gnomAD v4 |
| 3 | g.123319669T>A | CA82896071 | ADCY5 | c.933+5A>T (n.933+5A>T) c.1221+5A>T (n.1221+5A>T) c.2256+5A>T (n.2256+5A>T) n.515+5A>T c.1206+5A>T (n.1206+5A>T) c.1155+5A>T (n.1155+5A>T) c.1257+5A>T (n.1257+5A>T) c.1167+5A>T (n.1167+5A>T) c.1158+5A>T (n.1158+5A>T) | dbSNP gnomAD v4 |
| 3 | g.123319669T>C | CA2577207 | ADCY5 | c.933+5A>G (n.933+5A>G) c.1221+5A>G (n.1221+5A>G) c.2256+5A>G (n.2256+5A>G) n.515+5A>G c.1206+5A>G (n.1206+5A>G) c.1155+5A>G (n.1155+5A>G) c.1257+5A>G (n.1257+5A>G) c.1167+5A>G (n.1167+5A>G) c.1158+5A>G (n.1158+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319669T= | CA1398343530 | ADCY5 | c.933+5A= (n.933+5A=) c.1221+5A= (n.1221+5A=) c.2256+5A= (n.2256+5A=) n.515+5A= c.1206+5A= (n.1206+5A=) c.1155+5A= (n.1155+5A=) c.1257+5A= (n.1257+5A=) c.1167+5A= (n.1167+5A=) c.1158+5A= (n.1158+5A=) | |
| 3 | g.123319670G>A | CA82896077 | ADCY5 | c.933+4C>T (n.933+4C>T) c.1221+4C>T (n.1221+4C>T) c.2256+4C>T (n.2256+4C>T) n.515+4C>T c.1206+4C>T (n.1206+4C>T) c.1155+4C>T (n.1155+4C>T) c.1257+4C>T (n.1257+4C>T) c.1167+4C>T (n.1167+4C>T) c.1158+4C>T (n.1158+4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319670G= | CA1398343531 | ADCY5 | c.933+4C= (n.933+4C=) c.1221+4C= (n.1221+4C=) c.2256+4C= (n.2256+4C=) n.515+4C= c.1206+4C= (n.1206+4C=) c.1155+4C= (n.1155+4C=) c.1257+4C= (n.1257+4C=) c.1167+4C= (n.1167+4C=) c.1158+4C= (n.1158+4C=) | |
| 3 | g.123319670G>T | CA2667293325 | ADCY5 | c.933+4C>A (n.933+4C>A) c.1221+4C>A (n.1221+4C>A) c.2256+4C>A (n.2256+4C>A) n.515+4C>A c.1206+4C>A (n.1206+4C>A) c.1155+4C>A (n.1155+4C>A) c.1257+4C>A (n.1257+4C>A) c.1167+4C>A (n.1167+4C>A) c.1158+4C>A (n.1158+4C>A) | gnomAD v4 |
| 3 | g.123319671T>C | CA1398343533 | ADCY5 | c.933+3A>G (n.933+3A>G) c.1221+3A>G (n.1221+3A>G) c.2256+3A>G (n.2256+3A>G) n.515+3A>G c.1206+3A>G (n.1206+3A>G) c.1155+3A>G (n.1155+3A>G) c.1257+3A>G (n.1257+3A>G) c.1167+3A>G (n.1167+3A>G) c.1158+3A>G (n.1158+3A>G) | dbSNP gnomAD v4 |
| 3 | g.123319671T= | CA1398343532 | ADCY5 | c.933+3A= (n.933+3A=) c.1221+3A= (n.1221+3A=) c.2256+3A= (n.2256+3A=) n.515+3A= c.1206+3A= (n.1206+3A=) c.1155+3A= (n.1155+3A=) c.1257+3A= (n.1257+3A=) c.1167+3A= (n.1167+3A=) c.1158+3A= (n.1158+3A=) | |
| 3 | g.123319672A>C | CA354217725 | ADCY5 | c.933+2T>G (n.933+2T>G) c.1221+2T>G (n.1221+2T>G) c.2256+2T>G (n.2256+2T>G) n.515+2T>G c.1206+2T>G (n.1206+2T>G) c.1155+2T>G (n.1155+2T>G) c.1257+2T>G (n.1257+2T>G) c.1167+2T>G (n.1167+2T>G) c.1158+2T>G (n.1158+2T>G) | |
| 3 | g.123319672A>G | CA354217727 | ADCY5 | c.933+2T>C (n.933+2T>C) c.1221+2T>C (n.1221+2T>C) c.2256+2T>C (n.2256+2T>C) n.515+2T>C c.1206+2T>C (n.1206+2T>C) c.1155+2T>C (n.1155+2T>C) c.1257+2T>C (n.1257+2T>C) c.1167+2T>C (n.1167+2T>C) c.1158+2T>C (n.1158+2T>C) | gnomAD v4 |
| 3 | g.123319672A>T | CA354217726 | ADCY5 | c.933+2T>A (n.933+2T>A) c.1221+2T>A (n.1221+2T>A) c.2256+2T>A (n.2256+2T>A) n.515+2T>A c.1206+2T>A (n.1206+2T>A) c.1155+2T>A (n.1155+2T>A) c.1257+2T>A (n.1257+2T>A) c.1167+2T>A (n.1167+2T>A) c.1158+2T>A (n.1158+2T>A) | |
| 3 | g.123319673C>A | CA354217728 | ADCY5 | c.933+1G>T (n.933+1G>T) c.1221+1G>T (n.1221+1G>T) c.2256+1G>T (n.2256+1G>T) n.515+1G>T c.1206+1G>T (n.1206+1G>T) c.1155+1G>T (n.1155+1G>T) c.1257+1G>T (n.1257+1G>T) c.1167+1G>T (n.1167+1G>T) c.1158+1G>T (n.1158+1G>T) | |
| 3 | g.123319673C= | CA1398343535 | ADCY5 | c.933+1G= (n.933+1G=) c.1221+1G= (n.1221+1G=) c.2256+1G= (n.2256+1G=) n.515+1G= c.1206+1G= (n.1206+1G=) c.1155+1G= (n.1155+1G=) c.1257+1G= (n.1257+1G=) c.1167+1G= (n.1167+1G=) c.1158+1G= (n.1158+1G=) | |
| 3 | g.123319673C>G | CA354217729 | ADCY5 | c.933+1G>C (n.933+1G>C) c.1221+1G>C (n.1221+1G>C) c.2256+1G>C (n.2256+1G>C) n.515+1G>C c.1206+1G>C (n.1206+1G>C) c.1155+1G>C (n.1155+1G>C) c.1257+1G>C (n.1257+1G>C) c.1167+1G>C (n.1167+1G>C) c.1158+1G>C (n.1158+1G>C) | |
| 3 | g.123319673C>T | CA354217730 | ADCY5 | c.933+1G>A (n.933+1G>A) c.1221+1G>A (n.1221+1G>A) c.2256+1G>A (n.2256+1G>A) n.515+1G>A c.1206+1G>A (n.1206+1G>A) c.1155+1G>A (n.1155+1G>A) c.1257+1G>A (n.1257+1G>A) c.1167+1G>A (n.1167+1G>A) c.1158+1G>A (n.1158+1G>A) | dbSNP |
| 3 | g.123319673_123319676delinsCCTT | CA1398343534 | ADCY5 | c.931_933+1delinsAAGG c.1219_1221+1delinsAAGG c.2254_2256+1delinsAAGG n.513_515+1delinsAAGG c.1204_1206+1delinsAAGG c.1153_1155+1delinsAAGG c.1255_1257+1delinsAAGG c.1165_1167+1delinsAAGG c.1156_1158+1delinsAAGG | |
| 3 | g.123319674C>A | CA354217731 | ADCY5 | c.933G>T (p.Lys311Asn) c.1221G>T (p.Lys407Asn) c.2256G>T (p.Lys752Asn) n.515G>T c.1206G>T (p.Lys402Asn) c.1155G>T (p.Lys385Asn) c.1257G>T (p.Lys419Asn) c.1167G>T (p.Lys389Asn) c.1158G>T (p.Lys386Asn) | |
| 3 | g.123319674C>G | CA354217732 | ADCY5 | c.933G>C (p.Lys311Asn) c.1221G>C (p.Lys407Asn) c.2256G>C (p.Lys752Asn) n.515G>C c.1206G>C (p.Lys402Asn) c.1155G>C (p.Lys385Asn) c.1257G>C (p.Lys419Asn) c.1167G>C (p.Lys389Asn) c.1158G>C (p.Lys386Asn) | |
| 3 | g.123319674C>T | CA435293082 | ADCY5 | c.933G>A (p.Lys311=) c.1221G>A (p.Lys407=) c.2256G>A (p.Lys752=) n.515G>A c.1206G>A (p.Lys402=) c.1155G>A (p.Lys385=) c.1257G>A (p.Lys419=) c.1167G>A (p.Lys389=) c.1158G>A (p.Lys386=) | |
| 3 | g.123319679_123319681del | CA2577208 | ADCY5 | c.931_933del (p.Lys311del) c.1219_1221del (p.Lys407del) c.2254_2256del (p.Lys752del) n.513_515del c.1204_1206del (p.Lys402del) c.1153_1155del (p.Lys385del) c.1255_1257del (p.Lys419del) c.1165_1167del (p.Lys389del) c.1156_1158del (p.Lys386del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319675T>A | CA354217735 | ADCY5 | c.932A>T (p.Lys311Met) c.1220A>T (p.Lys407Met) c.2255A>T (p.Lys752Met) n.514A>T c.1205A>T (p.Lys402Met) c.1154A>T (p.Lys385Met) c.1256A>T (p.Lys419Met) c.1166A>T (p.Lys389Met) c.1157A>T (p.Lys386Met) | |
| 3 | g.123319675T>C | CA354217733 | ADCY5 | c.932A>G (p.Lys311Arg) c.1220A>G (p.Lys407Arg) c.2255A>G (p.Lys752Arg) n.514A>G c.1205A>G (p.Lys402Arg) c.1154A>G (p.Lys385Arg) c.1256A>G (p.Lys419Arg) c.1166A>G (p.Lys389Arg) c.1157A>G (p.Lys386Arg) | |
| 3 | g.123319675T>G | CA354217734 | ADCY5 | c.932A>C (p.Lys311Thr) c.1220A>C (p.Lys407Thr) c.2255A>C (p.Lys752Thr) n.514A>C c.1205A>C (p.Lys402Thr) c.1154A>C (p.Lys385Thr) c.1256A>C (p.Lys419Thr) c.1166A>C (p.Lys389Thr) c.1157A>C (p.Lys386Thr) | |
| 3 | g.123319676T>A | CA354217736 | ADCY5 | c.931A>T (p.Lys311Ter) c.1219A>T (p.Lys407Ter) c.2254A>T (p.Lys752Ter) n.513A>T c.1204A>T (p.Lys402Ter) c.1153A>T (p.Lys385Ter) c.1255A>T (p.Lys419Ter) c.1165A>T (p.Lys389Ter) c.1156A>T (p.Lys386Ter) | dbSNP |
| 3 | g.123319676T>C | CA354217737 | ADCY5 | c.931A>G (p.Lys311Glu) c.1219A>G (p.Lys407Glu) c.2254A>G (p.Lys752Glu) n.513A>G c.1204A>G (p.Lys402Glu) c.1153A>G (p.Lys385Glu) c.1255A>G (p.Lys419Glu) c.1165A>G (p.Lys389Glu) c.1156A>G (p.Lys386Glu) | |
| 3 | g.123319676T>G | CA354217738 | ADCY5 | c.931A>C (p.Lys311Gln) c.1219A>C (p.Lys407Gln) c.2254A>C (p.Lys752Gln) n.513A>C c.1204A>C (p.Lys402Gln) c.1153A>C (p.Lys385Gln) c.1255A>C (p.Lys419Gln) c.1165A>C (p.Lys389Gln) c.1156A>C (p.Lys386Gln) | |
| 3 | g.123319676T= | CA1398343536 | ADCY5 | c.931A= (p.Lys311=) c.1219A= (p.Lys407=) c.2254A= (p.Lys752=) n.513A= c.1204A= (p.Lys402=) c.1153A= (p.Lys385=) c.1255A= (p.Lys419=) c.1165A= (p.Lys389=) c.1156A= (p.Lys386=) | |
| 3 | g.123319677C>A | CA82896096 | ADCY5 | c.930G>T (p.Lys310Asn) c.1218G>T (p.Lys406Asn) c.2253G>T (p.Lys751Asn) n.512G>T c.1203G>T (p.Lys401Asn) c.1152G>T (p.Lys384Asn) c.1254G>T (p.Lys418Asn) c.1164G>T (p.Lys388Asn) c.1155G>T (p.Lys385Asn) | dbSNP gnomAD v4 |
| 3 | g.123319677C= | CA1398343537 | ADCY5 | c.930G= (p.Lys310=) c.1218G= (p.Lys406=) c.2253G= (p.Lys751=) n.512G= c.1203G= (p.Lys401=) c.1152G= (p.Lys384=) c.1254G= (p.Lys418=) c.1164G= (p.Lys388=) c.1155G= (p.Lys385=) | |
| 3 | g.123319677C>G | CA354217739 | ADCY5 | c.930G>C (p.Lys310Asn) c.1218G>C (p.Lys406Asn) c.2253G>C (p.Lys751Asn) n.512G>C c.1203G>C (p.Lys401Asn) c.1152G>C (p.Lys384Asn) c.1254G>C (p.Lys418Asn) c.1164G>C (p.Lys388Asn) c.1155G>C (p.Lys385Asn) | |
| 3 | g.123319677C>T | CA435293085 | ADCY5 | c.930G>A (p.Lys310=) c.1218G>A (p.Lys406=) c.2253G>A (p.Lys751=) n.512G>A c.1203G>A (p.Lys401=) c.1152G>A (p.Lys384=) c.1254G>A (p.Lys418=) c.1164G>A (p.Lys388=) c.1155G>A (p.Lys385=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123319678T>A | CA354217740 | ADCY5 | c.929A>T (p.Lys310Met) c.1217A>T (p.Lys406Met) c.2252A>T (p.Lys751Met) n.511A>T c.1202A>T (p.Lys401Met) c.1151A>T (p.Lys384Met) c.1253A>T (p.Lys418Met) c.1163A>T (p.Lys388Met) c.1154A>T (p.Lys385Met) | |
| 3 | g.123319678T>C | CA2577209 | ADCY5 | c.929A>G (p.Lys310Arg) c.1217A>G (p.Lys406Arg) c.2252A>G (p.Lys751Arg) n.511A>G c.1202A>G (p.Lys401Arg) c.1151A>G (p.Lys384Arg) c.1253A>G (p.Lys418Arg) c.1163A>G (p.Lys388Arg) c.1154A>G (p.Lys385Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319678T>G | CA354217741 | ADCY5 | c.929A>C (p.Lys310Thr) c.1217A>C (p.Lys406Thr) c.2252A>C (p.Lys751Thr) n.511A>C c.1202A>C (p.Lys401Thr) c.1151A>C (p.Lys384Thr) c.1253A>C (p.Lys418Thr) c.1163A>C (p.Lys388Thr) c.1154A>C (p.Lys385Thr) | |
| 3 | g.123319678T= | CA1398343538 | ADCY5 | c.929A= (p.Lys310=) c.1217A= (p.Lys406=) c.2252A= (p.Lys751=) n.511A= c.1202A= (p.Lys401=) c.1151A= (p.Lys384=) c.1253A= (p.Lys418=) c.1163A= (p.Lys388=) c.1154A= (p.Lys385=) | |
| 3 | g.123319679T>A | CA354217742 | ADCY5 | c.928A>T (p.Lys310Ter) c.1216A>T (p.Lys406Ter) c.2251A>T (p.Lys751Ter) n.510A>T c.1201A>T (p.Lys401Ter) c.1150A>T (p.Lys384Ter) c.1252A>T (p.Lys418Ter) c.1162A>T (p.Lys388Ter) c.1153A>T (p.Lys385Ter) | dbSNP COSMIC |
| 3 | g.123319679T>C | CA354217743 | ADCY5 | c.928A>G (p.Lys310Glu) c.1216A>G (p.Lys406Glu) c.2251A>G (p.Lys751Glu) n.510A>G c.1201A>G (p.Lys401Glu) c.1150A>G (p.Lys384Glu) c.1252A>G (p.Lys418Glu) c.1162A>G (p.Lys388Glu) c.1153A>G (p.Lys385Glu) | |
| 3 | g.123319679T>G | CA354217744 | ADCY5 | c.928A>C (p.Lys310Gln) c.1216A>C (p.Lys406Gln) c.2251A>C (p.Lys751Gln) n.510A>C c.1201A>C (p.Lys401Gln) c.1150A>C (p.Lys384Gln) c.1252A>C (p.Lys418Gln) c.1162A>C (p.Lys388Gln) c.1153A>C (p.Lys385Gln) | |
| 3 | g.123319679T= | CA1398343539 | ADCY5 | c.928A= (p.Lys310=) c.1216A= (p.Lys406=) c.2251A= (p.Lys751=) n.510A= c.1201A= (p.Lys401=) c.1150A= (p.Lys384=) c.1252A= (p.Lys418=) c.1162A= (p.Lys388=) c.1153A= (p.Lys385=) | |
| 3 | g.123319680C>A | CA354217745 | ADCY5 | c.927G>T (p.Glu309Asp) c.1215G>T (p.Glu405Asp) c.2250G>T (p.Glu750Asp) n.509G>T c.1200G>T (p.Glu400Asp) c.1149G>T (p.Glu383Asp) c.1251G>T (p.Glu417Asp) c.1161G>T (p.Glu387Asp) c.1152G>T (p.Glu384Asp) | |
| 3 | g.123319680C>G | CA354217746 | ADCY5 | c.927G>C (p.Glu309Asp) c.1215G>C (p.Glu405Asp) c.2250G>C (p.Glu750Asp) n.509G>C c.1200G>C (p.Glu400Asp) c.1149G>C (p.Glu383Asp) c.1251G>C (p.Glu417Asp) c.1161G>C (p.Glu387Asp) c.1152G>C (p.Glu384Asp) | |
| 3 | g.123319680C>T | CA435293089 | ADCY5 | c.927G>A (p.Glu309=) c.1215G>A (p.Glu405=) c.2250G>A (p.Glu750=) n.509G>A c.1200G>A (p.Glu400=) c.1149G>A (p.Glu383=) c.1251G>A (p.Glu417=) c.1161G>A (p.Glu387=) c.1152G>A (p.Glu384=) | |
| 3 | g.123319681T>A | CA354217747 | ADCY5 | c.926A>T (p.Glu309Val) c.1214A>T (p.Glu405Val) c.2249A>T (p.Glu750Val) n.508A>T c.1199A>T (p.Glu400Val) c.1148A>T (p.Glu383Val) c.1250A>T (p.Glu417Val) c.1160A>T (p.Glu387Val) c.1151A>T (p.Glu384Val) | |
| 3 | g.123319681T>C | CA354217748 | ADCY5 | c.926A>G (p.Glu309Gly) c.1214A>G (p.Glu405Gly) c.2249A>G (p.Glu750Gly) n.508A>G c.1199A>G (p.Glu400Gly) c.1148A>G (p.Glu383Gly) c.1250A>G (p.Glu417Gly) c.1160A>G (p.Glu387Gly) c.1151A>G (p.Glu384Gly) | |
| 3 | g.123319681T>G | CA354217749 | ADCY5 | c.926A>C (p.Glu309Ala) c.1214A>C (p.Glu405Ala) c.2249A>C (p.Glu750Ala) n.508A>C c.1199A>C (p.Glu400Ala) c.1148A>C (p.Glu383Ala) c.1250A>C (p.Glu417Ala) c.1160A>C (p.Glu387Ala) c.1151A>C (p.Glu384Ala) | |
| 3 | g.123319682C>A | CA354217750 | ADCY5 | c.925G>T (p.Glu309Ter) c.1213G>T (p.Glu405Ter) c.2248G>T (p.Glu750Ter) n.507G>T c.1198G>T (p.Glu400Ter) c.1147G>T (p.Glu383Ter) c.1249G>T (p.Glu417Ter) c.1159G>T (p.Glu387Ter) c.1150G>T (p.Glu384Ter) | dbSNP |
| 3 | g.123319682C= | CA1398343540 | ADCY5 | c.925G= (p.Glu309=) c.1213G= (p.Glu405=) c.2248G= (p.Glu750=) n.507G= c.1198G= (p.Glu400=) c.1147G= (p.Glu383=) c.1249G= (p.Glu417=) c.1159G= (p.Glu387=) c.1150G= (p.Glu384=) | |
| 3 | g.123319682C>G | CA354217751 | ADCY5 | c.925G>C (p.Glu309Gln) c.1213G>C (p.Glu405Gln) c.2248G>C (p.Glu750Gln) n.507G>C c.1198G>C (p.Glu400Gln) c.1147G>C (p.Glu383Gln) c.1249G>C (p.Glu417Gln) c.1159G>C (p.Glu387Gln) c.1150G>C (p.Glu384Gln) | |
| 3 | g.123319682C>T | CA354217752 | ADCY5 | c.925G>A (p.Glu309Lys) c.1213G>A (p.Glu405Lys) c.2248G>A (p.Glu750Lys) n.507G>A c.1198G>A (p.Glu400Lys) c.1147G>A (p.Glu383Lys) c.1249G>A (p.Glu417Lys) c.1159G>A (p.Glu387Lys) c.1150G>A (p.Glu384Lys) | |
| 3 | g.123319683T>A | CA354217753 | ADCY5 | c.924A>T (p.Leu308Phe) c.1212A>T (p.Leu404Phe) c.2247A>T (p.Leu749Phe) n.506A>T c.1197A>T (p.Leu399Phe) c.1146A>T (p.Leu382Phe) c.1248A>T (p.Leu416Phe) c.1158A>T (p.Leu386Phe) c.1149A>T (p.Leu383Phe) | |
| 3 | g.123319683T>C | CA435293091 | ADCY5 | c.924A>G (p.Leu308=) c.1212A>G (p.Leu404=) c.2247A>G (p.Leu749=) n.506A>G c.1197A>G (p.Leu399=) c.1146A>G (p.Leu382=) c.1248A>G (p.Leu416=) c.1158A>G (p.Leu386=) c.1149A>G (p.Leu383=) | gnomAD v4 |
| 3 | g.123319683T>G | CA354217754 | ADCY5 | c.924A>C (p.Leu308Phe) c.1212A>C (p.Leu404Phe) c.2247A>C (p.Leu749Phe) n.506A>C c.1197A>C (p.Leu399Phe) c.1146A>C (p.Leu382Phe) c.1248A>C (p.Leu416Phe) c.1158A>C (p.Leu386Phe) c.1149A>C (p.Leu383Phe) | |
| 3 | g.123319684A= | CA1398343541 | ADCY5 | c.923T= (p.Leu308=) c.1211T= (p.Leu404=) c.2246T= (p.Leu749=) n.505T= c.1196T= (p.Leu399=) c.1145T= (p.Leu382=) c.1247T= (p.Leu416=) c.1157T= (p.Leu386=) c.1148T= (p.Leu383=) | |
| 3 | g.123319684A>C | CA354217755 | ADCY5 | c.923T>G (p.Leu308Ter) c.1211T>G (p.Leu404Ter) c.2246T>G (p.Leu749Ter) n.505T>G c.1196T>G (p.Leu399Ter) c.1145T>G (p.Leu382Ter) c.1247T>G (p.Leu416Ter) c.1157T>G (p.Leu386Ter) c.1148T>G (p.Leu383Ter) | |
| 3 | g.123319684A>G | CA2577210 | ADCY5 | c.923T>C (p.Leu308Ser) c.1211T>C (p.Leu404Ser) c.2246T>C (p.Leu749Ser) n.505T>C c.1196T>C (p.Leu399Ser) c.1145T>C (p.Leu382Ser) c.1247T>C (p.Leu416Ser) c.1157T>C (p.Leu386Ser) c.1148T>C (p.Leu383Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.123319684A>T | CA354217756 | ADCY5 | c.923T>A (p.Leu308Ter) c.1211T>A (p.Leu404Ter) c.2246T>A (p.Leu749Ter) n.505T>A c.1196T>A (p.Leu399Ter) c.1145T>A (p.Leu382Ter) c.1247T>A (p.Leu416Ter) c.1157T>A (p.Leu386Ter) c.1148T>A (p.Leu383Ter) | |
| 3 | g.123319685A= | CA1398343542 | ADCY5 | c.922T= (p.Leu308=) c.1210T= (p.Leu404=) c.2245T= (p.Leu749=) n.504T= c.1195T= (p.Leu399=) c.1144T= (p.Leu382=) c.1246T= (p.Leu416=) c.1156T= (p.Leu386=) c.1147T= (p.Leu383=) | |
| 3 | g.123319685A>C | CA2577211 | ADCY5 | c.922T>G (p.Leu308Val) c.1210T>G (p.Leu404Val) c.2245T>G (p.Leu749Val) n.504T>G c.1195T>G (p.Leu399Val) c.1144T>G (p.Leu382Val) c.1246T>G (p.Leu416Val) c.1156T>G (p.Leu386Val) c.1147T>G (p.Leu383Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319685A>G | CA435293133 | ADCY5 | c.922T>C (p.Leu308=) c.1210T>C (p.Leu404=) c.2245T>C (p.Leu749=) n.504T>C c.1195T>C (p.Leu399=) c.1144T>C (p.Leu382=) c.1246T>C (p.Leu416=) c.1156T>C (p.Leu386=) c.1147T>C (p.Leu383=) | |
| 3 | g.123319685A>T | CA354217757 | ADCY5 | c.922T>A (p.Leu308Ile) c.1210T>A (p.Leu404Ile) c.2245T>A (p.Leu749Ile) n.504T>A c.1195T>A (p.Leu399Ile) c.1144T>A (p.Leu382Ile) c.1246T>A (p.Leu416Ile) c.1156T>A (p.Leu386Ile) c.1147T>A (p.Leu383Ile) | |
| 3 | g.123319686G>A | CA82896104 | ADCY5 | c.921C>T (p.Asp307=) c.1209C>T (p.Asp403=) c.2244C>T (p.Asp748=) n.503C>T c.1194C>T (p.Asp398=) c.1143C>T (p.Asp381=) c.1245C>T (p.Asp415=) c.1155C>T (p.Asp385=) c.1146C>T (p.Asp382=) | dbSNP |
| 3 | g.123319686G>C | CA354217758 | ADCY5 | c.921C>G (p.Asp307Glu) c.1209C>G (p.Asp403Glu) c.2244C>G (p.Asp748Glu) n.503C>G c.1194C>G (p.Asp398Glu) c.1143C>G (p.Asp381Glu) c.1245C>G (p.Asp415Glu) c.1155C>G (p.Asp385Glu) c.1146C>G (p.Asp382Glu) | |
| 3 | g.123319686G= | CA1398343543 | ADCY5 | c.921C= (p.Asp307=) c.1209C= (p.Asp403=) c.2244C= (p.Asp748=) n.503C= c.1194C= (p.Asp398=) c.1143C= (p.Asp381=) c.1245C= (p.Asp415=) c.1155C= (p.Asp385=) c.1146C= (p.Asp382=) | |
| 3 | g.123319686G>T | CA354217759 | ADCY5 | c.921C>A (p.Asp307Glu) c.1209C>A (p.Asp403Glu) c.2244C>A (p.Asp748Glu) n.503C>A c.1194C>A (p.Asp398Glu) c.1143C>A (p.Asp381Glu) c.1245C>A (p.Asp415Glu) c.1155C>A (p.Asp385Glu) c.1146C>A (p.Asp382Glu) | |
| 3 | g.123319687T>A | CA354217760 | ADCY5 | c.920A>T (p.Asp307Val) c.1208A>T (p.Asp403Val) c.2243A>T (p.Asp748Val) n.502A>T c.1193A>T (p.Asp398Val) c.1142A>T (p.Asp381Val) c.1244A>T (p.Asp415Val) c.1154A>T (p.Asp385Val) c.1145A>T (p.Asp382Val) | |
| 3 | g.123319687T>C | CA354217761 | ADCY5 | c.920A>G (p.Asp307Gly) c.1208A>G (p.Asp403Gly) c.2243A>G (p.Asp748Gly) n.502A>G c.1193A>G (p.Asp398Gly) c.1142A>G (p.Asp381Gly) c.1244A>G (p.Asp415Gly) c.1154A>G (p.Asp385Gly) c.1145A>G (p.Asp382Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319687T>G | CA354217762 | ADCY5 | c.920A>C (p.Asp307Ala) c.1208A>C (p.Asp403Ala) c.2243A>C (p.Asp748Ala) n.502A>C c.1193A>C (p.Asp398Ala) c.1142A>C (p.Asp381Ala) c.1244A>C (p.Asp415Ala) c.1154A>C (p.Asp385Ala) c.1145A>C (p.Asp382Ala) | |
| 3 | g.123319687T= | CA1398343544 | ADCY5 | c.920A= (p.Asp307=) c.1208A= (p.Asp403=) c.2243A= (p.Asp748=) n.502A= c.1193A= (p.Asp398=) c.1142A= (p.Asp381=) c.1244A= (p.Asp415=) c.1154A= (p.Asp385=) c.1145A= (p.Asp382=) | |
| 3 | g.123319688C>A | CA354217763 | ADCY5 | c.919G>T (p.Asp307Tyr) c.1207G>T (p.Asp403Tyr) c.2242G>T (p.Asp748Tyr) n.501G>T c.1192G>T (p.Asp398Tyr) c.1141G>T (p.Asp381Tyr) c.1243G>T (p.Asp415Tyr) c.1153G>T (p.Asp385Tyr) c.1144G>T (p.Asp382Tyr) | |
| 3 | g.123319688C>G | CA354217764 | ADCY5 | c.919G>C (p.Asp307His) c.1207G>C (p.Asp403His) c.2242G>C (p.Asp748His) n.501G>C c.1192G>C (p.Asp398His) c.1141G>C (p.Asp381His) c.1243G>C (p.Asp415His) c.1153G>C (p.Asp385His) c.1144G>C (p.Asp382His) | |
| 3 | g.123319688C>T | CA354217765 | ADCY5 | c.919G>A (p.Asp307Asn) c.1207G>A (p.Asp403Asn) c.2242G>A (p.Asp748Asn) n.501G>A c.1192G>A (p.Asp398Asn) c.1141G>A (p.Asp381Asn) c.1243G>A (p.Asp415Asn) c.1153G>A (p.Asp385Asn) c.1144G>A (p.Asp382Asn) | |
| 3 | g.123319689A>C | CA435293134 | ADCY5 | c.918T>G (p.Pro306=) c.1206T>G (p.Pro402=) c.2241T>G (p.Pro747=) n.500T>G c.1191T>G (p.Pro397=) c.1140T>G (p.Pro380=) c.1242T>G (p.Pro414=) c.1152T>G (p.Pro384=) c.1143T>G (p.Pro381=) | |
| 3 | g.123319689A>G | CA435293135 | ADCY5 | c.918T>C (p.Pro306=) c.1206T>C (p.Pro402=) c.2241T>C (p.Pro747=) n.500T>C c.1191T>C (p.Pro397=) c.1140T>C (p.Pro380=) c.1242T>C (p.Pro414=) c.1152T>C (p.Pro384=) c.1143T>C (p.Pro381=) | |
| 3 | g.123319689A>T | CA435293136 | ADCY5 | c.918T>A (p.Pro306=) c.1206T>A (p.Pro402=) c.2241T>A (p.Pro747=) n.500T>A c.1191T>A (p.Pro397=) c.1140T>A (p.Pro380=) c.1242T>A (p.Pro414=) c.1152T>A (p.Pro384=) c.1143T>A (p.Pro381=) | |
| 3 | g.123319690G>A | CA354217766 | ADCY5 | c.917C>T (p.Pro306Leu) c.1205C>T (p.Pro402Leu) c.2240C>T (p.Pro747Leu) n.499C>T c.1190C>T (p.Pro397Leu) c.1139C>T (p.Pro380Leu) c.1241C>T (p.Pro414Leu) c.1151C>T (p.Pro384Leu) c.1142C>T (p.Pro381Leu) | dbSNP gnomAD v4 |
| 3 | g.123319690G>C | CA354217767 | ADCY5 | c.917C>G (p.Pro306Arg) c.1205C>G (p.Pro402Arg) c.2240C>G (p.Pro747Arg) n.499C>G c.1190C>G (p.Pro397Arg) c.1139C>G (p.Pro380Arg) c.1241C>G (p.Pro414Arg) c.1151C>G (p.Pro384Arg) c.1142C>G (p.Pro381Arg) | |
| 3 | g.123319690G= | CA1398343545 | ADCY5 | c.917C= (p.Pro306=) c.1205C= (p.Pro402=) c.2240C= (p.Pro747=) n.499C= c.1190C= (p.Pro397=) c.1139C= (p.Pro380=) c.1241C= (p.Pro414=) c.1151C= (p.Pro384=) c.1142C= (p.Pro381=) | |
| 3 | g.123319690G>T | CA354217768 | ADCY5 | c.917C>A (p.Pro306His) c.1205C>A (p.Pro402His) c.2240C>A (p.Pro747His) n.499C>A c.1190C>A (p.Pro397His) c.1139C>A (p.Pro380His) c.1241C>A (p.Pro414His) c.1151C>A (p.Pro384His) c.1142C>A (p.Pro381His) | |
| 3 | g.123319691G>A | CA354217769 | ADCY5 | c.916C>T (p.Pro306Ser) c.1204C>T (p.Pro402Ser) c.2239C>T (p.Pro747Ser) n.498C>T c.1189C>T (p.Pro397Ser) c.1138C>T (p.Pro380Ser) c.1240C>T (p.Pro414Ser) c.1150C>T (p.Pro384Ser) c.1141C>T (p.Pro381Ser) | gnomAD v4 |
| 3 | g.123319691G>C | CA354217771 | ADCY5 | c.916C>G (p.Pro306Ala) c.1204C>G (p.Pro402Ala) c.2239C>G (p.Pro747Ala) n.498C>G c.1189C>G (p.Pro397Ala) c.1138C>G (p.Pro380Ala) c.1240C>G (p.Pro414Ala) c.1150C>G (p.Pro384Ala) c.1141C>G (p.Pro381Ala) | |
| 3 | g.123319691G>T | CA354217770 | ADCY5 | c.916C>A (p.Pro306Thr) c.1204C>A (p.Pro402Thr) c.2239C>A (p.Pro747Thr) n.498C>A c.1189C>A (p.Pro397Thr) c.1138C>A (p.Pro380Thr) c.1240C>A (p.Pro414Thr) c.1150C>A (p.Pro384Thr) c.1141C>A (p.Pro381Thr) | |
| 3 | g.123319692C>A | CA2577212 | ADCY5 | c.915G>T (p.Glu305Asp) c.1203G>T (p.Glu401Asp) c.2238G>T (p.Glu746Asp) n.497G>T c.1188G>T (p.Glu396Asp) c.1137G>T (p.Glu379Asp) c.1239G>T (p.Glu413Asp) c.1149G>T (p.Glu383Asp) c.1140G>T (p.Glu380Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319692C= | CA1398343546 | ADCY5 | c.915G= (p.Glu305=) c.1203G= (p.Glu401=) c.2238G= (p.Glu746=) n.497G= c.1188G= (p.Glu396=) c.1137G= (p.Glu379=) c.1239G= (p.Glu413=) c.1149G= (p.Glu383=) c.1140G= (p.Glu380=) | |
| 3 | g.123319692C>G | CA354217772 | ADCY5 | c.915G>C (p.Glu305Asp) c.1203G>C (p.Glu401Asp) c.2238G>C (p.Glu746Asp) n.497G>C c.1188G>C (p.Glu396Asp) c.1137G>C (p.Glu379Asp) c.1239G>C (p.Glu413Asp) c.1149G>C (p.Glu383Asp) c.1140G>C (p.Glu380Asp) | |
| 3 | g.123319692C>T | CA435293137 | ADCY5 | c.915G>A (p.Glu305=) c.1203G>A (p.Glu401=) c.2238G>A (p.Glu746=) n.497G>A c.1188G>A (p.Glu396=) c.1137G>A (p.Glu379=) c.1239G>A (p.Glu413=) c.1149G>A (p.Glu383=) c.1140G>A (p.Glu380=) | |
| 3 | g.123319693T>A | CA354217773 | ADCY5 | c.914A>T (p.Glu305Val) c.1202A>T (p.Glu401Val) c.2237A>T (p.Glu746Val) n.496A>T c.1187A>T (p.Glu396Val) c.1136A>T (p.Glu379Val) c.1238A>T (p.Glu413Val) c.1148A>T (p.Glu383Val) c.1139A>T (p.Glu380Val) | |
| 3 | g.123319693T>C | CA354217774 | ADCY5 | c.914A>G (p.Glu305Gly) c.1202A>G (p.Glu401Gly) c.2237A>G (p.Glu746Gly) n.496A>G c.1187A>G (p.Glu396Gly) c.1136A>G (p.Glu379Gly) c.1238A>G (p.Glu413Gly) c.1148A>G (p.Glu383Gly) c.1139A>G (p.Glu380Gly) | gnomAD v4 |
| 3 | g.123319693T>G | CA354217775 | ADCY5 | c.914A>C (p.Glu305Ala) c.1202A>C (p.Glu401Ala) c.2237A>C (p.Glu746Ala) n.496A>C c.1187A>C (p.Glu396Ala) c.1136A>C (p.Glu379Ala) c.1238A>C (p.Glu413Ala) c.1148A>C (p.Glu383Ala) c.1139A>C (p.Glu380Ala) | |
| 3 | g.123319694C>A | CA354217776 | ADCY5 | c.913G>T (p.Glu305Ter) c.1201G>T (p.Glu401Ter) c.2236G>T (p.Glu746Ter) n.495G>T c.1186G>T (p.Glu396Ter) c.1135G>T (p.Glu379Ter) c.1237G>T (p.Glu413Ter) c.1147G>T (p.Glu383Ter) c.1138G>T (p.Glu380Ter) | dbSNP |
| 3 | g.123319694C= | CA1398343547 | ADCY5 | c.913G= (p.Glu305=) c.1201G= (p.Glu401=) c.2236G= (p.Glu746=) n.495G= c.1186G= (p.Glu396=) c.1135G= (p.Glu379=) c.1237G= (p.Glu413=) c.1147G= (p.Glu383=) c.1138G= (p.Glu380=) | |
| 3 | g.123319694C>G | CA354217777 | ADCY5 | c.913G>C (p.Glu305Gln) c.1201G>C (p.Glu401Gln) c.2236G>C (p.Glu746Gln) n.495G>C c.1186G>C (p.Glu396Gln) c.1135G>C (p.Glu379Gln) c.1237G>C (p.Glu413Gln) c.1147G>C (p.Glu383Gln) c.1138G>C (p.Glu380Gln) | |
| 3 | g.123319694C>T | CA354217778 | ADCY5 | c.913G>A (p.Glu305Lys) c.1201G>A (p.Glu401Lys) c.2236G>A (p.Glu746Lys) n.495G>A c.1186G>A (p.Glu396Lys) c.1135G>A (p.Glu379Lys) c.1237G>A (p.Glu413Lys) c.1147G>A (p.Glu383Lys) c.1138G>A (p.Glu380Lys) | |
| 3 | g.123319695C>A | CA354217779 | ADCY5 | c.912G>T (p.Arg304Ser) c.1200G>T (p.Arg400Ser) c.2235G>T (p.Arg745Ser) n.494G>T c.1185G>T (p.Arg395Ser) c.1134G>T (p.Arg378Ser) c.1236G>T (p.Arg412Ser) c.1146G>T (p.Arg382Ser) c.1137G>T (p.Arg379Ser) | gnomAD v4 |
| 3 | g.123319695C>G | CA354217780 | ADCY5 | c.912G>C (p.Arg304Ser) c.1200G>C (p.Arg400Ser) c.2235G>C (p.Arg745Ser) n.494G>C c.1185G>C (p.Arg395Ser) c.1134G>C (p.Arg378Ser) c.1236G>C (p.Arg412Ser) c.1146G>C (p.Arg382Ser) c.1137G>C (p.Arg379Ser) | |
| 3 | g.123319695C>T | CA435293138 | ADCY5 | c.912G>A (p.Arg304=) c.1200G>A (p.Arg400=) c.2235G>A (p.Arg745=) n.494G>A c.1185G>A (p.Arg395=) c.1134G>A (p.Arg378=) c.1236G>A (p.Arg412=) c.1146G>A (p.Arg382=) c.1137G>A (p.Arg379=) | gnomAD v4 |
| 3 | g.123319696C>A | CA354217782 | ADCY5 | c.911G>T (p.Arg304Met) c.1199G>T (p.Arg400Met) c.2234G>T (p.Arg745Met) n.493G>T c.1184G>T (p.Arg395Met) c.1133G>T (p.Arg378Met) c.1235G>T (p.Arg412Met) c.1145G>T (p.Arg382Met) c.1136G>T (p.Arg379Met) | |
| 3 | g.123319696C>G | CA354217783 | ADCY5 | c.911G>C (p.Arg304Thr) c.1199G>C (p.Arg400Thr) c.2234G>C (p.Arg745Thr) n.493G>C c.1184G>C (p.Arg395Thr) c.1133G>C (p.Arg378Thr) c.1235G>C (p.Arg412Thr) c.1145G>C (p.Arg382Thr) c.1136G>C (p.Arg379Thr) | |
| 3 | g.123319696C>T | CA354217781 | ADCY5 | c.911G>A (p.Arg304Lys) c.1199G>A (p.Arg400Lys) c.2234G>A (p.Arg745Lys) n.493G>A c.1184G>A (p.Arg395Lys) c.1133G>A (p.Arg378Lys) c.1235G>A (p.Arg412Lys) c.1145G>A (p.Arg382Lys) c.1136G>A (p.Arg379Lys) | |
| 3 | g.123319697T>A | CA354217784 | ADCY5 | c.910A>T (p.Arg304Trp) c.1198A>T (p.Arg400Trp) c.2233A>T (p.Arg745Trp) n.492A>T c.1183A>T (p.Arg395Trp) c.1132A>T (p.Arg378Trp) c.1234A>T (p.Arg412Trp) c.1144A>T (p.Arg382Trp) c.1135A>T (p.Arg379Trp) | |
| 3 | g.123319697T>C | CA2577213 | ADCY5 | c.910A>G (p.Arg304Gly) c.1198A>G (p.Arg400Gly) c.2233A>G (p.Arg745Gly) n.492A>G c.1183A>G (p.Arg395Gly) c.1132A>G (p.Arg378Gly) c.1234A>G (p.Arg412Gly) c.1144A>G (p.Arg382Gly) c.1135A>G (p.Arg379Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319697T>G | CA435293139 | ADCY5 | c.910A>C (p.Arg304=) c.1198A>C (p.Arg400=) c.2233A>C (p.Arg745=) n.492A>C c.1183A>C (p.Arg395=) c.1132A>C (p.Arg378=) c.1234A>C (p.Arg412=) c.1144A>C (p.Arg382=) c.1135A>C (p.Arg379=) | |
| 3 | g.123319697T= | CA1398343548 | ADCY5 | c.910A= (p.Arg304=) c.1198A= (p.Arg400=) c.2233A= (p.Arg745=) n.492A= c.1183A= (p.Arg395=) c.1132A= (p.Arg378=) c.1234A= (p.Arg412=) c.1144A= (p.Arg382=) c.1135A= (p.Arg379=) | |
| 3 | g.123319698G>A | CA435293140 | ADCY5 | c.909C>T (p.Phe303=) c.1197C>T (p.Phe399=) c.2232C>T (p.Phe744=) n.491C>T c.1182C>T (p.Phe394=) c.1131C>T (p.Phe377=) c.1233C>T (p.Phe411=) c.1143C>T (p.Phe381=) c.1134C>T (p.Phe378=) | |
| 3 | g.123319698G>C | CA354217785 | ADCY5 | c.909C>G (p.Phe303Leu) c.1197C>G (p.Phe399Leu) c.2232C>G (p.Phe744Leu) n.491C>G c.1182C>G (p.Phe394Leu) c.1131C>G (p.Phe377Leu) c.1233C>G (p.Phe411Leu) c.1143C>G (p.Phe381Leu) c.1134C>G (p.Phe378Leu) | |
| 3 | g.123319698G>T | CA354217786 | ADCY5 | c.909C>A (p.Phe303Leu) c.1197C>A (p.Phe399Leu) c.2232C>A (p.Phe744Leu) n.491C>A c.1182C>A (p.Phe394Leu) c.1131C>A (p.Phe377Leu) c.1233C>A (p.Phe411Leu) c.1143C>A (p.Phe381Leu) c.1134C>A (p.Phe378Leu) | |
| 3 | g.123319699A>C | CA354217787 | ADCY5 | c.908T>G (p.Phe303Cys) c.1196T>G (p.Phe399Cys) c.2231T>G (p.Phe744Cys) n.490T>G c.1181T>G (p.Phe394Cys) c.1130T>G (p.Phe377Cys) c.1232T>G (p.Phe411Cys) c.1142T>G (p.Phe381Cys) c.1133T>G (p.Phe378Cys) | |
| 3 | g.123319699A>G | CA354217788 | ADCY5 | c.908T>C (p.Phe303Ser) c.1196T>C (p.Phe399Ser) c.2231T>C (p.Phe744Ser) n.490T>C c.1181T>C (p.Phe394Ser) c.1130T>C (p.Phe377Ser) c.1232T>C (p.Phe411Ser) c.1142T>C (p.Phe381Ser) c.1133T>C (p.Phe378Ser) | |
| 3 | g.123319699A>T | CA354217789 | ADCY5 | c.908T>A (p.Phe303Tyr) c.1196T>A (p.Phe399Tyr) c.2231T>A (p.Phe744Tyr) n.490T>A c.1181T>A (p.Phe394Tyr) c.1130T>A (p.Phe377Tyr) c.1232T>A (p.Phe411Tyr) c.1142T>A (p.Phe381Tyr) c.1133T>A (p.Phe378Tyr) | |
| 3 | g.123319700del | CA2667293326 | ADCY5 | c.908del (p.Phe303SerfsTer6) c.1196del (p.Phe399SerfsTer6) c.2231del (p.Phe744SerfsTer6) n.490del c.1181del (p.Phe394SerfsTer6) c.1130del (p.Phe377SerfsTer6) c.1232del (p.Phe411SerfsTer6) c.1142del (p.Phe381SerfsTer6) c.1133del (p.Phe378SerfsTer6) | gnomAD v4 |
| 3 | g.123319700A>C | CA354217790 | ADCY5 | c.907T>G (p.Phe303Val) c.1195T>G (p.Phe399Val) c.2230T>G (p.Phe744Val) n.489T>G c.1180T>G (p.Phe394Val) c.1129T>G (p.Phe377Val) c.1231T>G (p.Phe411Val) c.1141T>G (p.Phe381Val) c.1132T>G (p.Phe378Val) | |
| 3 | g.123319700A>G | CA354217791 | ADCY5 | c.907T>C (p.Phe303Leu) c.1195T>C (p.Phe399Leu) c.2230T>C (p.Phe744Leu) n.489T>C c.1180T>C (p.Phe394Leu) c.1129T>C (p.Phe377Leu) c.1231T>C (p.Phe411Leu) c.1141T>C (p.Phe381Leu) c.1132T>C (p.Phe378Leu) | |
| 3 | g.123319700A>T | CA354217792 | ADCY5 | c.907T>A (p.Phe303Ile) c.1195T>A (p.Phe399Ile) c.2230T>A (p.Phe744Ile) n.489T>A c.1180T>A (p.Phe394Ile) c.1129T>A (p.Phe377Ile) c.1231T>A (p.Phe411Ile) c.1141T>A (p.Phe381Ile) c.1132T>A (p.Phe378Ile) | |
| 3 | g.123319701G>A | CA435293141 | ADCY5 | c.906C>T (p.Thr302=) c.1194C>T (p.Thr398=) c.2229C>T (p.Thr743=) n.488C>T c.1179C>T (p.Thr393=) c.1128C>T (p.Thr376=) c.1230C>T (p.Thr410=) c.1140C>T (p.Thr380=) c.1131C>T (p.Thr377=) | |
| 3 | g.123319701G>C | CA435293143 | ADCY5 | c.906C>G (p.Thr302=) c.1194C>G (p.Thr398=) c.2229C>G (p.Thr743=) n.488C>G c.1179C>G (p.Thr393=) c.1128C>G (p.Thr376=) c.1230C>G (p.Thr410=) c.1140C>G (p.Thr380=) c.1131C>G (p.Thr377=) | |
| 3 | g.123319701G>T | CA435293144 | ADCY5 | c.906C>A (p.Thr302=) c.1194C>A (p.Thr398=) c.2229C>A (p.Thr743=) n.488C>A c.1179C>A (p.Thr393=) c.1128C>A (p.Thr376=) c.1230C>A (p.Thr410=) c.1140C>A (p.Thr380=) c.1131C>A (p.Thr377=) | |
| 3 | g.123319702G>A | CA354217793 | ADCY5 | c.905C>T (p.Thr302Ile) c.1193C>T (p.Thr398Ile) c.2228C>T (p.Thr743Ile) n.487C>T c.1178C>T (p.Thr393Ile) c.1127C>T (p.Thr376Ile) c.1229C>T (p.Thr410Ile) c.1139C>T (p.Thr380Ile) c.1130C>T (p.Thr377Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319702G>C | CA354217794 | ADCY5 | c.905C>G (p.Thr302Ser) c.1193C>G (p.Thr398Ser) c.2228C>G (p.Thr743Ser) n.487C>G c.1178C>G (p.Thr393Ser) c.1127C>G (p.Thr376Ser) c.1229C>G (p.Thr410Ser) c.1139C>G (p.Thr380Ser) c.1130C>G (p.Thr377Ser) | |
| 3 | g.123319702G= | CA1398343549 | ADCY5 | c.905C= (p.Thr302=) c.1193C= (p.Thr398=) c.2228C= (p.Thr743=) n.487C= c.1178C= (p.Thr393=) c.1127C= (p.Thr376=) c.1229C= (p.Thr410=) c.1139C= (p.Thr380=) c.1130C= (p.Thr377=) | |
| 3 | g.123319702G>T | CA354217795 | ADCY5 | c.905C>A (p.Thr302Asn) c.1193C>A (p.Thr398Asn) c.2228C>A (p.Thr743Asn) n.487C>A c.1178C>A (p.Thr393Asn) c.1127C>A (p.Thr376Asn) c.1229C>A (p.Thr410Asn) c.1139C>A (p.Thr380Asn) c.1130C>A (p.Thr377Asn) | |
| 3 | g.123319703T>A | CA354217798 | ADCY5 | c.904A>T (p.Thr302Ser) c.1192A>T (p.Thr398Ser) c.2227A>T (p.Thr743Ser) n.486A>T c.1177A>T (p.Thr393Ser) c.1126A>T (p.Thr376Ser) c.1228A>T (p.Thr410Ser) c.1138A>T (p.Thr380Ser) c.1129A>T (p.Thr377Ser) | |
| 3 | g.123319703T>C | CA354217797 | ADCY5 | c.904A>G (p.Thr302Ala) c.1192A>G (p.Thr398Ala) c.2227A>G (p.Thr743Ala) n.486A>G c.1177A>G (p.Thr393Ala) c.1126A>G (p.Thr376Ala) c.1228A>G (p.Thr410Ala) c.1138A>G (p.Thr380Ala) c.1129A>G (p.Thr377Ala) | |
| 3 | g.123319703T>G | CA354217796 | ADCY5 | c.904A>C (p.Thr302Pro) c.1192A>C (p.Thr398Pro) c.2227A>C (p.Thr743Pro) n.486A>C c.1177A>C (p.Thr393Pro) c.1126A>C (p.Thr376Pro) c.1228A>C (p.Thr410Pro) c.1138A>C (p.Thr380Pro) c.1129A>C (p.Thr377Pro) | |
| 3 | g.123319704C>A | CA435293145 | ADCY5 | c.903G>T (p.Leu301=) c.1191G>T (p.Leu397=) c.2226G>T (p.Leu742=) n.485G>T c.1176G>T (p.Leu392=) c.1125G>T (p.Leu375=) c.1227G>T (p.Leu409=) c.1137G>T (p.Leu379=) c.1128G>T (p.Leu376=) | |
| 3 | g.123319704C>G | CA435293146 | ADCY5 | c.903G>C (p.Leu301=) c.1191G>C (p.Leu397=) c.2226G>C (p.Leu742=) n.485G>C c.1176G>C (p.Leu392=) c.1125G>C (p.Leu375=) c.1227G>C (p.Leu409=) c.1137G>C (p.Leu379=) c.1128G>C (p.Leu376=) | |
| 3 | g.123319704C>T | CA435293147 | ADCY5 | c.903G>A (p.Leu301=) c.1191G>A (p.Leu397=) c.2226G>A (p.Leu742=) n.485G>A c.1176G>A (p.Leu392=) c.1125G>A (p.Leu375=) c.1227G>A (p.Leu409=) c.1137G>A (p.Leu379=) c.1128G>A (p.Leu376=) | |
| 3 | g.123319705A>C | CA354217799 | ADCY5 | c.902T>G (p.Leu301Arg) c.1190T>G (p.Leu397Arg) c.2225T>G (p.Leu742Arg) n.484T>G c.1175T>G (p.Leu392Arg) c.1124T>G (p.Leu375Arg) c.1226T>G (p.Leu409Arg) c.1136T>G (p.Leu379Arg) c.1127T>G (p.Leu376Arg) | |
| 3 | g.123319705A>G | CA354217800 | ADCY5 | c.902T>C (p.Leu301Pro) c.1190T>C (p.Leu397Pro) c.2225T>C (p.Leu742Pro) n.484T>C c.1175T>C (p.Leu392Pro) c.1124T>C (p.Leu375Pro) c.1226T>C (p.Leu409Pro) c.1136T>C (p.Leu379Pro) c.1127T>C (p.Leu376Pro) | |
| 3 | g.123319705A>T | CA354217801 | ADCY5 | c.902T>A (p.Leu301Gln) c.1190T>A (p.Leu397Gln) c.2225T>A (p.Leu742Gln) n.484T>A c.1175T>A (p.Leu392Gln) c.1124T>A (p.Leu375Gln) c.1226T>A (p.Leu409Gln) c.1136T>A (p.Leu379Gln) c.1127T>A (p.Leu376Gln) | |
| 3 | g.123319706G>A | CA435293148 | ADCY5 | c.901C>T (p.Leu301=) c.1189C>T (p.Leu397=) c.2224C>T (p.Leu742=) n.483C>T c.1174C>T (p.Leu392=) c.1123C>T (p.Leu375=) c.1225C>T (p.Leu409=) c.1135C>T (p.Leu379=) c.1126C>T (p.Leu376=) | COSMIC |
| 3 | g.123319706G>C | CA354217802 | ADCY5 | c.901C>G (p.Leu301Val) c.1189C>G (p.Leu397Val) c.2224C>G (p.Leu742Val) n.483C>G c.1174C>G (p.Leu392Val) c.1123C>G (p.Leu375Val) c.1225C>G (p.Leu409Val) c.1135C>G (p.Leu379Val) c.1126C>G (p.Leu376Val) | |
| 3 | g.123319706G>T | CA354217803 | ADCY5 | c.901C>A (p.Leu301Met) c.1189C>A (p.Leu397Met) c.2224C>A (p.Leu742Met) n.483C>A c.1174C>A (p.Leu392Met) c.1123C>A (p.Leu375Met) c.1225C>A (p.Leu409Met) c.1135C>A (p.Leu379Met) c.1126C>A (p.Leu376Met) | |
| 3 | g.123319707G>A | CA435293150 | ADCY5 | c.900C>T (p.Leu300=) c.1188C>T (p.Leu396=) c.2223C>T (p.Leu741=) n.482C>T c.1173C>T (p.Leu391=) c.1122C>T (p.Leu374=) c.1224C>T (p.Leu408=) c.1134C>T (p.Leu378=) c.1125C>T (p.Leu375=) | gnomAD v4 |
| 3 | g.123319707G>C | CA435293151 | ADCY5 | c.900C>G (p.Leu300=) c.1188C>G (p.Leu396=) c.2223C>G (p.Leu741=) n.482C>G c.1173C>G (p.Leu391=) c.1122C>G (p.Leu374=) c.1224C>G (p.Leu408=) c.1134C>G (p.Leu378=) c.1125C>G (p.Leu375=) | |
| 3 | g.123319707G>T | CA435293149 | ADCY5 | c.900C>A (p.Leu300=) c.1188C>A (p.Leu396=) c.2223C>A (p.Leu741=) n.482C>A c.1173C>A (p.Leu391=) c.1122C>A (p.Leu374=) c.1224C>A (p.Leu408=) c.1134C>A (p.Leu378=) c.1125C>A (p.Leu375=) | |
| 3 | g.123319708A>C | CA354217804 | ADCY5 | c.899T>G (p.Leu300Arg) c.1187T>G (p.Leu396Arg) c.2222T>G (p.Leu741Arg) n.481T>G c.1172T>G (p.Leu391Arg) c.1121T>G (p.Leu374Arg) c.1223T>G (p.Leu408Arg) c.1133T>G (p.Leu378Arg) c.1124T>G (p.Leu375Arg) | |
| 3 | g.123319708A>G | CA354217805 | ADCY5 | c.899T>C (p.Leu300Pro) c.1187T>C (p.Leu396Pro) c.2222T>C (p.Leu741Pro) n.481T>C c.1172T>C (p.Leu391Pro) c.1121T>C (p.Leu374Pro) c.1223T>C (p.Leu408Pro) c.1133T>C (p.Leu378Pro) c.1124T>C (p.Leu375Pro) | |
| 3 | g.123319708A>T | CA354217806 | ADCY5 | c.899T>A (p.Leu300His) c.1187T>A (p.Leu396His) c.2222T>A (p.Leu741His) n.481T>A c.1172T>A (p.Leu391His) c.1121T>A (p.Leu374His) c.1223T>A (p.Leu408His) c.1133T>A (p.Leu378His) c.1124T>A (p.Leu375His) | |
| 3 | g.123319709G>A | CA82896115 | ADCY5 | c.898C>T (p.Leu300Phe) c.1186C>T (p.Leu396Phe) c.2221C>T (p.Leu741Phe) n.480C>T c.1171C>T (p.Leu391Phe) c.1120C>T (p.Leu374Phe) c.1222C>T (p.Leu408Phe) c.1132C>T (p.Leu378Phe) c.1123C>T (p.Leu375Phe) | dbSNP |
| 3 | g.123319709G>C | CA354217807 | ADCY5 | c.898C>G (p.Leu300Val) c.1186C>G (p.Leu396Val) c.2221C>G (p.Leu741Val) n.480C>G c.1171C>G (p.Leu391Val) c.1120C>G (p.Leu374Val) c.1222C>G (p.Leu408Val) c.1132C>G (p.Leu378Val) c.1123C>G (p.Leu375Val) | |
| 3 | g.123319709G= | CA1398343550 | ADCY5 | c.898C= (p.Leu300=) c.1186C= (p.Leu396=) c.2221C= (p.Leu741=) n.480C= c.1171C= (p.Leu391=) c.1120C= (p.Leu374=) c.1222C= (p.Leu408=) c.1132C= (p.Leu378=) c.1123C= (p.Leu375=) | |
| 3 | g.123319709G>T | CA354217808 | ADCY5 | c.898C>A (p.Leu300Ile) c.1186C>A (p.Leu396Ile) c.2221C>A (p.Leu741Ile) n.480C>A c.1171C>A (p.Leu391Ile) c.1120C>A (p.Leu374Ile) c.1222C>A (p.Leu408Ile) c.1132C>A (p.Leu378Ile) c.1123C>A (p.Leu375Ile) | |
| 3 | g.123319710G>A | CA435293152 | ADCY5 | c.897C>T (p.Phe299=) c.1185C>T (p.Phe395=) c.2220C>T (p.Phe740=) n.479C>T c.1170C>T (p.Phe390=) c.1119C>T (p.Phe373=) c.1221C>T (p.Phe407=) c.1131C>T (p.Phe377=) c.1122C>T (p.Phe374=) | gnomAD v4 |
| 3 | g.123319710G>C | CA354217809 | ADCY5 | c.897C>G (p.Phe299Leu) c.1185C>G (p.Phe395Leu) c.2220C>G (p.Phe740Leu) n.479C>G c.1170C>G (p.Phe390Leu) c.1119C>G (p.Phe373Leu) c.1221C>G (p.Phe407Leu) c.1131C>G (p.Phe377Leu) c.1122C>G (p.Phe374Leu) | |
| 3 | g.123319710G>T | CA354217810 | ADCY5 | c.897C>A (p.Phe299Leu) c.1185C>A (p.Phe395Leu) c.2220C>A (p.Phe740Leu) n.479C>A c.1170C>A (p.Phe390Leu) c.1119C>A (p.Phe373Leu) c.1221C>A (p.Phe407Leu) c.1131C>A (p.Phe377Leu) c.1122C>A (p.Phe374Leu) | |
| 3 | g.123319711A>C | CA354217811 | ADCY5 | c.896T>G (p.Phe299Cys) c.1184T>G (p.Phe395Cys) c.2219T>G (p.Phe740Cys) n.478T>G c.1169T>G (p.Phe390Cys) c.1118T>G (p.Phe373Cys) c.1220T>G (p.Phe407Cys) c.1130T>G (p.Phe377Cys) c.1121T>G (p.Phe374Cys) | |
| 3 | g.123319711A>G | CA354217813 | ADCY5 | c.896T>C (p.Phe299Ser) c.1184T>C (p.Phe395Ser) c.2219T>C (p.Phe740Ser) n.478T>C c.1169T>C (p.Phe390Ser) c.1118T>C (p.Phe373Ser) c.1220T>C (p.Phe407Ser) c.1130T>C (p.Phe377Ser) c.1121T>C (p.Phe374Ser) | |
| 3 | g.123319711A>T | CA354217812 | ADCY5 | c.896T>A (p.Phe299Tyr) c.1184T>A (p.Phe395Tyr) c.2219T>A (p.Phe740Tyr) n.478T>A c.1169T>A (p.Phe390Tyr) c.1118T>A (p.Phe373Tyr) c.1220T>A (p.Phe407Tyr) c.1130T>A (p.Phe377Tyr) c.1121T>A (p.Phe374Tyr) | |
| 3 | g.123319712A>C | CA354217814 | ADCY5 | c.895T>G (p.Phe299Val) c.1183T>G (p.Phe395Val) c.2218T>G (p.Phe740Val) n.477T>G c.1168T>G (p.Phe390Val) c.1117T>G (p.Phe373Val) c.1219T>G (p.Phe407Val) c.1129T>G (p.Phe377Val) c.1120T>G (p.Phe374Val) | |
| 3 | g.123319712A>G | CA354217816 | ADCY5 | c.895T>C (p.Phe299Leu) c.1183T>C (p.Phe395Leu) c.2218T>C (p.Phe740Leu) n.477T>C c.1168T>C (p.Phe390Leu) c.1117T>C (p.Phe373Leu) c.1219T>C (p.Phe407Leu) c.1129T>C (p.Phe377Leu) c.1120T>C (p.Phe374Leu) | COSMIC |
| 3 | g.123319712A>T | CA354217815 | ADCY5 | c.895T>A (p.Phe299Ile) c.1183T>A (p.Phe395Ile) c.2218T>A (p.Phe740Ile) n.477T>A c.1168T>A (p.Phe390Ile) c.1117T>A (p.Phe373Ile) c.1219T>A (p.Phe407Ile) c.1129T>A (p.Phe377Ile) c.1120T>A (p.Phe374Ile) | |
| 3 | g.123319713C>A | CA2577214 | ADCY5 | c.894G>T (p.Lys298Asn) c.1182G>T (p.Lys394Asn) c.2217G>T (p.Lys739Asn) n.476G>T c.1167G>T (p.Lys389Asn) c.1116G>T (p.Lys372Asn) c.1218G>T (p.Lys406Asn) c.1128G>T (p.Lys376Asn) c.1119G>T (p.Lys373Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319713C= | CA1398343551 | ADCY5 | c.894G= (p.Lys298=) c.1182G= (p.Lys394=) c.2217G= (p.Lys739=) n.476G= c.1167G= (p.Lys389=) c.1116G= (p.Lys372=) c.1218G= (p.Lys406=) c.1128G= (p.Lys376=) c.1119G= (p.Lys373=) | |
| 3 | g.123319713C>G | CA354217817 | ADCY5 | c.894G>C (p.Lys298Asn) c.1182G>C (p.Lys394Asn) c.2217G>C (p.Lys739Asn) n.476G>C c.1167G>C (p.Lys389Asn) c.1116G>C (p.Lys372Asn) c.1218G>C (p.Lys406Asn) c.1128G>C (p.Lys376Asn) c.1119G>C (p.Lys373Asn) | |
| 3 | g.123319713C>T | CA435293153 | ADCY5 | c.894G>A (p.Lys298=) c.1182G>A (p.Lys394=) c.2217G>A (p.Lys739=) n.476G>A c.1167G>A (p.Lys389=) c.1116G>A (p.Lys372=) c.1218G>A (p.Lys406=) c.1128G>A (p.Lys376=) c.1119G>A (p.Lys373=) | dbSNP gnomAD v4 |
| 3 | g.123319714T>A | CA354217818 | ADCY5 | c.893A>T (p.Lys298Met) c.1181A>T (p.Lys394Met) c.2216A>T (p.Lys739Met) n.475A>T c.1166A>T (p.Lys389Met) c.1115A>T (p.Lys372Met) c.1217A>T (p.Lys406Met) c.1127A>T (p.Lys376Met) c.1118A>T (p.Lys373Met) | |
| 3 | g.123319714T>C | CA354217819 | ADCY5 | c.893A>G (p.Lys298Arg) c.1181A>G (p.Lys394Arg) c.2216A>G (p.Lys739Arg) n.475A>G c.1166A>G (p.Lys389Arg) c.1115A>G (p.Lys372Arg) c.1217A>G (p.Lys406Arg) c.1127A>G (p.Lys376Arg) c.1118A>G (p.Lys373Arg) | |
| 3 | g.123319714T>G | CA354217820 | ADCY5 | c.893A>C (p.Lys298Thr) c.1181A>C (p.Lys394Thr) c.2216A>C (p.Lys739Thr) n.475A>C c.1166A>C (p.Lys389Thr) c.1115A>C (p.Lys372Thr) c.1217A>C (p.Lys406Thr) c.1127A>C (p.Lys376Thr) c.1118A>C (p.Lys373Thr) | |
| 3 | g.123319715dup | CA645532301 | ADCY5 | c.893dup (p.Phe299ValfsTer9) c.1181dup (p.Phe395ValfsTer9) c.2216dup (p.Phe740ValfsTer9) n.475dup c.1166dup (p.Phe390ValfsTer9) c.1115dup (p.Phe373ValfsTer9) c.1217dup (p.Phe407ValfsTer9) c.1127dup (p.Phe377ValfsTer9) c.1118dup (p.Phe374ValfsTer9) | COSMIC |
| 3 | g.123319715T>A | CA354217821 | ADCY5 | c.892A>T (p.Lys298Ter) c.1180A>T (p.Lys394Ter) c.2215A>T (p.Lys739Ter) n.474A>T c.1165A>T (p.Lys389Ter) c.1114A>T (p.Lys372Ter) c.1216A>T (p.Lys406Ter) c.1126A>T (p.Lys376Ter) c.1117A>T (p.Lys373Ter) | dbSNP |
| 3 | g.123319715T>C | CA2577215 | ADCY5 | c.892A>G (p.Lys298Glu) c.1180A>G (p.Lys394Glu) c.2215A>G (p.Lys739Glu) n.474A>G c.1165A>G (p.Lys389Glu) c.1114A>G (p.Lys372Glu) c.1216A>G (p.Lys406Glu) c.1126A>G (p.Lys376Glu) c.1117A>G (p.Lys373Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319715T>G | CA354217822 | ADCY5 | c.892A>C (p.Lys298Gln) c.1180A>C (p.Lys394Gln) c.2215A>C (p.Lys739Gln) n.474A>C c.1165A>C (p.Lys389Gln) c.1114A>C (p.Lys372Gln) c.1216A>C (p.Lys406Gln) c.1126A>C (p.Lys376Gln) c.1117A>C (p.Lys373Gln) | |
| 3 | g.123319715T= | CA1398343552 | ADCY5 | c.892A= (p.Lys298=) c.1180A= (p.Lys394=) c.2215A= (p.Lys739=) n.474A= c.1165A= (p.Lys389=) c.1114A= (p.Lys372=) c.1216A= (p.Lys406=) c.1126A= (p.Lys376=) c.1117A= (p.Lys373=) | |
| 3 | g.123319716G>A | CA435293155 | ADCY5 | c.891C>T (p.Arg297=) c.1179C>T (p.Arg393=) c.2214C>T (p.Arg738=) n.473C>T c.1164C>T (p.Arg388=) c.1113C>T (p.Arg371=) c.1215C>T (p.Arg405=) c.1125C>T (p.Arg375=) c.1116C>T (p.Arg372=) | |
| 3 | g.123319716G>C | CA435293156 | ADCY5 | c.891C>G (p.Arg297=) c.1179C>G (p.Arg393=) c.2214C>G (p.Arg738=) n.473C>G c.1164C>G (p.Arg388=) c.1113C>G (p.Arg371=) c.1215C>G (p.Arg405=) c.1125C>G (p.Arg375=) c.1116C>G (p.Arg372=) | |
| 3 | g.123319716G= | CA1398343553 | ADCY5 | c.891C= (p.Arg297=) c.1179C= (p.Arg393=) c.2214C= (p.Arg738=) n.473C= c.1164C= (p.Arg388=) c.1113C= (p.Arg371=) c.1215C= (p.Arg405=) c.1125C= (p.Arg375=) c.1116C= (p.Arg372=) | |
| 3 | g.123319716G>T | CA2577216 | ADCY5 | c.891C>A (p.Arg297=) c.1179C>A (p.Arg393=) c.2214C>A (p.Arg738=) n.473C>A c.1164C>A (p.Arg388=) c.1113C>A (p.Arg371=) c.1215C>A (p.Arg405=) c.1125C>A (p.Arg375=) c.1116C>A (p.Arg372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319716dup | CA545685612 | ADCY5 | c.891dup (p.Lys298GlnfsTer10) c.1179dup (p.Lys394GlnfsTer10) c.2214dup (p.Lys739GlnfsTer10) n.473dup c.1164dup (p.Lys389GlnfsTer10) c.1113dup (p.Lys372GlnfsTer10) c.1215dup (p.Lys406GlnfsTer10) c.1125dup (p.Lys376GlnfsTer10) c.1116dup (p.Lys373GlnfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319717C>A | CA354217823 | ADCY5 | c.890G>T (p.Arg297Leu) c.1178G>T (p.Arg393Leu) c.2213G>T (p.Arg738Leu) n.472G>T c.1163G>T (p.Arg388Leu) c.1112G>T (p.Arg371Leu) c.1214G>T (p.Arg405Leu) c.1124G>T (p.Arg375Leu) c.1115G>T (p.Arg372Leu) | gnomAD v4 COSMIC |
| 3 | g.123319717C= | CA1398343554 | ADCY5 | c.890G= (p.Arg297=) c.1178G= (p.Arg393=) c.2213G= (p.Arg738=) n.472G= c.1163G= (p.Arg388=) c.1112G= (p.Arg371=) c.1214G= (p.Arg405=) c.1124G= (p.Arg375=) c.1115G= (p.Arg372=) | |
| 3 | g.123319717C>G | CA354217824 | ADCY5 | c.890G>C (p.Arg297Pro) c.1178G>C (p.Arg393Pro) c.2213G>C (p.Arg738Pro) n.472G>C c.1163G>C (p.Arg388Pro) c.1112G>C (p.Arg371Pro) c.1214G>C (p.Arg405Pro) c.1124G>C (p.Arg375Pro) c.1115G>C (p.Arg372Pro) | |
| 3 | g.123319717C>T | CA354217825 | ADCY5 | c.890G>A (p.Arg297His) c.1178G>A (p.Arg393His) c.2213G>A (p.Arg738His) n.472G>A c.1163G>A (p.Arg388His) c.1112G>A (p.Arg371His) c.1214G>A (p.Arg405His) c.1124G>A (p.Arg375His) c.1115G>A (p.Arg372His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123319718G>A | CA354217826 | ADCY5 | c.889C>T (p.Arg297Cys) c.1177C>T (p.Arg393Cys) c.2212C>T (p.Arg738Cys) n.471C>T c.1162C>T (p.Arg388Cys) c.1111C>T (p.Arg371Cys) c.1213C>T (p.Arg405Cys) c.1123C>T (p.Arg375Cys) c.1114C>T (p.Arg372Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319718G>C | CA354217827 | ADCY5 | c.889C>G (p.Arg297Gly) c.1177C>G (p.Arg393Gly) c.2212C>G (p.Arg738Gly) n.471C>G c.1162C>G (p.Arg388Gly) c.1111C>G (p.Arg371Gly) c.1213C>G (p.Arg405Gly) c.1123C>G (p.Arg375Gly) c.1114C>G (p.Arg372Gly) | |
| 3 | g.123319718G= | CA1398343555 | ADCY5 | c.889C= (p.Arg297=) c.1177C= (p.Arg393=) c.2212C= (p.Arg738=) n.471C= c.1162C= (p.Arg388=) c.1111C= (p.Arg371=) c.1213C= (p.Arg405=) c.1123C= (p.Arg375=) c.1114C= (p.Arg372=) | |
| 3 | g.123319718G>T | CA354217828 | ADCY5 | c.889C>A (p.Arg297Ser) c.1177C>A (p.Arg393Ser) c.2212C>A (p.Arg738Ser) n.471C>A c.1162C>A (p.Arg388Ser) c.1111C>A (p.Arg371Ser) c.1213C>A (p.Arg405Ser) c.1123C>A (p.Arg375Ser) c.1114C>A (p.Arg372Ser) | |
| 3 | g.123319719G>A | CA435293157 | ADCY5 | c.888C>T (p.Val296=) c.1176C>T (p.Val392=) c.2211C>T (p.Val737=) n.470C>T c.1161C>T (p.Val387=) c.1110C>T (p.Val370=) c.1212C>T (p.Val404=) c.1122C>T (p.Val374=) c.1113C>T (p.Val371=) | gnomAD v4 |
| 3 | g.123319719G>C | CA435293158 | ADCY5 | c.888C>G (p.Val296=) c.1176C>G (p.Val392=) c.2211C>G (p.Val737=) n.470C>G c.1161C>G (p.Val387=) c.1110C>G (p.Val370=) c.1212C>G (p.Val404=) c.1122C>G (p.Val374=) c.1113C>G (p.Val371=) | |
| 3 | g.123319719G>T | CA435293159 | ADCY5 | c.888C>A (p.Val296=) c.1176C>A (p.Val392=) c.2211C>A (p.Val737=) n.470C>A c.1161C>A (p.Val387=) c.1110C>A (p.Val370=) c.1212C>A (p.Val404=) c.1122C>A (p.Val374=) c.1113C>A (p.Val371=) | |
| 3 | g.123319720A= | CA1398343556 | ADCY5 | c.887T= (p.Val296=) c.1175T= (p.Val392=) c.2210T= (p.Val737=) n.469T= c.1160T= (p.Val387=) c.1109T= (p.Val370=) c.1211T= (p.Val404=) c.1121T= (p.Val374=) c.1112T= (p.Val371=) | |
| 3 | g.123319720A>C | CA354217829 | ADCY5 | c.887T>G (p.Val296Gly) c.1175T>G (p.Val392Gly) c.2210T>G (p.Val737Gly) n.469T>G c.1160T>G (p.Val387Gly) c.1109T>G (p.Val370Gly) c.1211T>G (p.Val404Gly) c.1121T>G (p.Val374Gly) c.1112T>G (p.Val371Gly) | |
| 3 | g.123319720A>G | CA354217830 | ADCY5 | c.887T>C (p.Val296Ala) c.1175T>C (p.Val392Ala) c.2210T>C (p.Val737Ala) n.469T>C c.1160T>C (p.Val387Ala) c.1109T>C (p.Val370Ala) c.1211T>C (p.Val404Ala) c.1121T>C (p.Val374Ala) c.1112T>C (p.Val371Ala) | |
| 3 | g.123319720A>T | CA16604433 | ADCY5 | c.887T>A (p.Val296Asp) c.1175T>A (p.Val392Asp) c.2210T>A (p.Val737Asp) n.469T>A c.1160T>A (p.Val387Asp) c.1109T>A (p.Val370Asp) c.1211T>A (p.Val404Asp) c.1121T>A (p.Val374Asp) c.1112T>A (p.Val371Asp) | ClinVar dbSNP |
| 3 | g.123319721C>A | CA354217831 | ADCY5 | c.886G>T (p.Val296Phe) c.1174G>T (p.Val392Phe) c.2209G>T (p.Val737Phe) n.468G>T c.1159G>T (p.Val387Phe) c.1108G>T (p.Val370Phe) c.1210G>T (p.Val404Phe) c.1120G>T (p.Val374Phe) c.1111G>T (p.Val371Phe) | |
| 3 | g.123319721C= | CA1398343557 | ADCY5 | c.886G= (p.Val296=) c.1174G= (p.Val392=) c.2209G= (p.Val737=) n.468G= c.1159G= (p.Val387=) c.1108G= (p.Val370=) c.1210G= (p.Val404=) c.1120G= (p.Val374=) c.1111G= (p.Val371=) | |
| 3 | g.123319721C>G | CA354217832 | ADCY5 | c.886G>C (p.Val296Leu) c.1174G>C (p.Val392Leu) c.2209G>C (p.Val737Leu) n.468G>C c.1159G>C (p.Val387Leu) c.1108G>C (p.Val370Leu) c.1210G>C (p.Val404Leu) c.1120G>C (p.Val374Leu) c.1111G>C (p.Val371Leu) | |
| 3 | g.123319721C>T | CA2577217 | ADCY5 | c.886G>A (p.Val296Ile) c.1174G>A (p.Val392Ile) c.2209G>A (p.Val737Ile) n.468G>A c.1159G>A (p.Val387Ile) c.1108G>A (p.Val370Ile) c.1210G>A (p.Val404Ile) c.1120G>A (p.Val374Ile) c.1111G>A (p.Val371Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319722G>A | CA2577218 | ADCY5 | c.885C>T (p.His295=) c.1173C>T (p.His391=) c.2208C>T (p.His736=) n.467C>T c.1158C>T (p.His386=) c.1107C>T (p.His369=) c.1209C>T (p.His403=) c.1119C>T (p.His373=) c.1110C>T (p.His370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319722G>C | CA2577219 | ADCY5 | c.885C>G (p.His295Gln) c.1173C>G (p.His391Gln) c.2208C>G (p.His736Gln) n.467C>G c.1158C>G (p.His386Gln) c.1107C>G (p.His369Gln) c.1209C>G (p.His403Gln) c.1119C>G (p.His373Gln) c.1110C>G (p.His370Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319722G= | CA1398343558 | ADCY5 | c.885C= (p.His295=) c.1173C= (p.His391=) c.2208C= (p.His736=) n.467C= c.1158C= (p.His386=) c.1107C= (p.His369=) c.1209C= (p.His403=) c.1119C= (p.His373=) c.1110C= (p.His370=) | |
| 3 | g.123319722G>T | CA354217833 | ADCY5 | c.885C>A (p.His295Gln) c.1173C>A (p.His391Gln) c.2208C>A (p.His736Gln) n.467C>A c.1158C>A (p.His386Gln) c.1107C>A (p.His369Gln) c.1209C>A (p.His403Gln) c.1119C>A (p.His373Gln) c.1110C>A (p.His370Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319723T>A | CA354217834 | ADCY5 | c.884A>T (p.His295Leu) c.1172A>T (p.His391Leu) c.2207A>T (p.His736Leu) n.466A>T c.1157A>T (p.His386Leu) c.1106A>T (p.His369Leu) c.1208A>T (p.His403Leu) c.1118A>T (p.His373Leu) c.1109A>T (p.His370Leu) | gnomAD v4 |
| 3 | g.123319723T>C | CA354217835 | ADCY5 | c.884A>G (p.His295Arg) c.1172A>G (p.His391Arg) c.2207A>G (p.His736Arg) n.466A>G c.1157A>G (p.His386Arg) c.1106A>G (p.His369Arg) c.1208A>G (p.His403Arg) c.1118A>G (p.His373Arg) c.1109A>G (p.His370Arg) | |
| 3 | g.123319723T>G | CA354217836 | ADCY5 | c.884A>C (p.His295Pro) c.1172A>C (p.His391Pro) c.2207A>C (p.His736Pro) n.466A>C c.1157A>C (p.His386Pro) c.1106A>C (p.His369Pro) c.1208A>C (p.His403Pro) c.1118A>C (p.His373Pro) c.1109A>C (p.His370Pro) | |
| 3 | g.123319724G>A | CA354217839 | ADCY5 | c.883C>T (p.His295Tyr) c.1171C>T (p.His391Tyr) c.2206C>T (p.His736Tyr) n.465C>T c.1156C>T (p.His386Tyr) c.1105C>T (p.His369Tyr) c.1207C>T (p.His403Tyr) c.1117C>T (p.His373Tyr) c.1108C>T (p.His370Tyr) | COSMIC |
| 3 | g.123319724G>C | CA354217838 | ADCY5 | c.883C>G (p.His295Asp) c.1171C>G (p.His391Asp) c.2206C>G (p.His736Asp) n.465C>G c.1156C>G (p.His386Asp) c.1105C>G (p.His369Asp) c.1207C>G (p.His403Asp) c.1117C>G (p.His373Asp) c.1108C>G (p.His370Asp) | |
| 3 | g.123319724G>T | CA354217837 | ADCY5 | c.883C>A (p.His295Asn) c.1171C>A (p.His391Asn) c.2206C>A (p.His736Asn) n.465C>A c.1156C>A (p.His386Asn) c.1105C>A (p.His369Asn) c.1207C>A (p.His403Asn) c.1117C>A (p.His373Asn) c.1108C>A (p.His370Asn) | |
| 3 | g.123319725C>A | CA354217840 | ADCY5 | c.882G>T (p.Glu294Asp) c.1170G>T (p.Glu390Asp) c.2205G>T (p.Glu735Asp) n.464G>T c.1155G>T (p.Glu385Asp) c.1104G>T (p.Glu368Asp) c.1206G>T (p.Glu402Asp) c.1116G>T (p.Glu372Asp) c.1107G>T (p.Glu369Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123319725C= | CA1398343559 | ADCY5 | c.882G= (p.Glu294=) c.1170G= (p.Glu390=) c.2205G= (p.Glu735=) n.464G= c.1155G= (p.Glu385=) c.1104G= (p.Glu368=) c.1206G= (p.Glu402=) c.1116G= (p.Glu372=) c.1107G= (p.Glu369=) | |
| 3 | g.123319725C>G | CA354217841 | ADCY5 | c.882G>C (p.Glu294Asp) c.1170G>C (p.Glu390Asp) c.2205G>C (p.Glu735Asp) n.464G>C c.1155G>C (p.Glu385Asp) c.1104G>C (p.Glu368Asp) c.1206G>C (p.Glu402Asp) c.1116G>C (p.Glu372Asp) c.1107G>C (p.Glu369Asp) | |
| 3 | g.123319725C>T | CA435293160 | ADCY5 | c.882G>A (p.Glu294=) c.1170G>A (p.Glu390=) c.2205G>A (p.Glu735=) n.464G>A c.1155G>A (p.Glu385=) c.1104G>A (p.Glu368=) c.1206G>A (p.Glu402=) c.1116G>A (p.Glu372=) c.1107G>A (p.Glu369=) | |
| 3 | g.123319726T>A | CA354217842 | ADCY5 | c.881A>T (p.Glu294Val) c.1169A>T (p.Glu390Val) c.2204A>T (p.Glu735Val) n.463A>T c.1154A>T (p.Glu385Val) c.1103A>T (p.Glu368Val) c.1205A>T (p.Glu402Val) c.1115A>T (p.Glu372Val) c.1106A>T (p.Glu369Val) | |
| 3 | g.123319726T>C | CA354217843 | ADCY5 | c.881A>G (p.Glu294Gly) c.1169A>G (p.Glu390Gly) c.2204A>G (p.Glu735Gly) n.463A>G c.1154A>G (p.Glu385Gly) c.1103A>G (p.Glu368Gly) c.1205A>G (p.Glu402Gly) c.1115A>G (p.Glu372Gly) c.1106A>G (p.Glu369Gly) | |
| 3 | g.123319726T>G | CA354217844 | ADCY5 | c.881A>C (p.Glu294Ala) c.1169A>C (p.Glu390Ala) c.2204A>C (p.Glu735Ala) n.463A>C c.1154A>C (p.Glu385Ala) c.1103A>C (p.Glu368Ala) c.1205A>C (p.Glu402Ala) c.1115A>C (p.Glu372Ala) c.1106A>C (p.Glu369Ala) | |
| 3 | g.123319727C>A | CA354217845 | ADCY5 | c.880G>T (p.Glu294Ter) c.1168G>T (p.Glu390Ter) c.2203G>T (p.Glu735Ter) n.462G>T c.1153G>T (p.Glu385Ter) c.1102G>T (p.Glu368Ter) c.1204G>T (p.Glu402Ter) c.1114G>T (p.Glu372Ter) c.1105G>T (p.Glu369Ter) | dbSNP |
| 3 | g.123319727C= | CA1398343560 | ADCY5 | c.880G= (p.Glu294=) c.1168G= (p.Glu390=) c.2203G= (p.Glu735=) n.462G= c.1153G= (p.Glu385=) c.1102G= (p.Glu368=) c.1204G= (p.Glu402=) c.1114G= (p.Glu372=) c.1105G= (p.Glu369=) | |
| 3 | g.123319727C>G | CA354217846 | ADCY5 | c.880G>C (p.Glu294Gln) c.1168G>C (p.Glu390Gln) c.2203G>C (p.Glu735Gln) n.462G>C c.1153G>C (p.Glu385Gln) c.1102G>C (p.Glu368Gln) c.1204G>C (p.Glu402Gln) c.1114G>C (p.Glu372Gln) c.1105G>C (p.Glu369Gln) | |
| 3 | g.123319727C>T | CA354217847 | ADCY5 | c.880G>A (p.Glu294Lys) c.1168G>A (p.Glu390Lys) c.2203G>A (p.Glu735Lys) n.462G>A c.1153G>A (p.Glu385Lys) c.1102G>A (p.Glu368Lys) c.1204G>A (p.Glu402Lys) c.1114G>A (p.Glu372Lys) c.1105G>A (p.Glu369Lys) | gnomAD v4 |
| 3 | g.123319728A>C | CA435293163 | ADCY5 | c.879T>G (p.Ser293=) c.1167T>G (p.Ser389=) c.2202T>G (p.Ser734=) n.461T>G c.1152T>G (p.Ser384=) c.1101T>G (p.Ser367=) c.1203T>G (p.Ser401=) c.1113T>G (p.Ser371=) c.1104T>G (p.Ser368=) | |
| 3 | g.123319728A>G | CA435293162 | ADCY5 | c.879T>C (p.Ser293=) c.1167T>C (p.Ser389=) c.2202T>C (p.Ser734=) n.461T>C c.1152T>C (p.Ser384=) c.1101T>C (p.Ser367=) c.1203T>C (p.Ser401=) c.1113T>C (p.Ser371=) c.1104T>C (p.Ser368=) | |
| 3 | g.123319728A>T | CA435293161 | ADCY5 | c.879T>A (p.Ser293=) c.1167T>A (p.Ser389=) c.2202T>A (p.Ser734=) n.461T>A c.1152T>A (p.Ser384=) c.1101T>A (p.Ser367=) c.1203T>A (p.Ser401=) c.1113T>A (p.Ser371=) c.1104T>A (p.Ser368=) | |
| 3 | g.123319729G>A | CA354217848 | ADCY5 | c.878C>T (p.Ser293Phe) c.1166C>T (p.Ser389Phe) c.2201C>T (p.Ser734Phe) n.460C>T c.1151C>T (p.Ser384Phe) c.1100C>T (p.Ser367Phe) c.1202C>T (p.Ser401Phe) c.1112C>T (p.Ser371Phe) c.1103C>T (p.Ser368Phe) | |
| 3 | g.123319729G>C | CA354217849 | ADCY5 | c.878C>G (p.Ser293Cys) c.1166C>G (p.Ser389Cys) c.2201C>G (p.Ser734Cys) n.460C>G c.1151C>G (p.Ser384Cys) c.1100C>G (p.Ser367Cys) c.1202C>G (p.Ser401Cys) c.1112C>G (p.Ser371Cys) c.1103C>G (p.Ser368Cys) | |
| 3 | g.123319729G>T | CA354217850 | ADCY5 | c.878C>A (p.Ser293Tyr) c.1166C>A (p.Ser389Tyr) c.2201C>A (p.Ser734Tyr) n.460C>A c.1151C>A (p.Ser384Tyr) c.1100C>A (p.Ser367Tyr) c.1202C>A (p.Ser401Tyr) c.1112C>A (p.Ser371Tyr) c.1103C>A (p.Ser368Tyr) | |
| 3 | g.123319730A>C | CA354217853 | ADCY5 | c.877T>G (p.Ser293Ala) c.1165T>G (p.Ser389Ala) c.2200T>G (p.Ser734Ala) n.459T>G c.1150T>G (p.Ser384Ala) c.1099T>G (p.Ser367Ala) c.1201T>G (p.Ser401Ala) c.1111T>G (p.Ser371Ala) c.1102T>G (p.Ser368Ala) | gnomAD v4 |
| 3 | g.123319730A>G | CA354217852 | ADCY5 | c.877T>C (p.Ser293Pro) c.1165T>C (p.Ser389Pro) c.2200T>C (p.Ser734Pro) n.459T>C c.1150T>C (p.Ser384Pro) c.1099T>C (p.Ser367Pro) c.1201T>C (p.Ser401Pro) c.1111T>C (p.Ser371Pro) c.1102T>C (p.Ser368Pro) | |
| 3 | g.123319730A>T | CA354217851 | ADCY5 | c.877T>A (p.Ser293Thr) c.1165T>A (p.Ser389Thr) c.2200T>A (p.Ser734Thr) n.459T>A c.1150T>A (p.Ser384Thr) c.1099T>A (p.Ser367Thr) c.1201T>A (p.Ser401Thr) c.1111T>A (p.Ser371Thr) c.1102T>A (p.Ser368Thr) | |
| 3 | g.123319731C>A | CA435293164 | ADCY5 | c.876G>T (p.Arg292=) c.1164G>T (p.Arg388=) c.2199G>T (p.Arg733=) n.458G>T c.1149G>T (p.Arg383=) c.1098G>T (p.Arg366=) c.1200G>T (p.Arg400=) c.1110G>T (p.Arg370=) c.1101G>T (p.Arg367=) | |
| 3 | g.123319731C>G | CA435293166 | ADCY5 | c.876G>C (p.Arg292=) c.1164G>C (p.Arg388=) c.2199G>C (p.Arg733=) n.458G>C c.1149G>C (p.Arg383=) c.1098G>C (p.Arg366=) c.1200G>C (p.Arg400=) c.1110G>C (p.Arg370=) c.1101G>C (p.Arg367=) | |
| 3 | g.123319731C>T | CA435293165 | ADCY5 | c.876G>A (p.Arg292=) c.1164G>A (p.Arg388=) c.2199G>A (p.Arg733=) n.458G>A c.1149G>A (p.Arg383=) c.1098G>A (p.Arg366=) c.1200G>A (p.Arg400=) c.1110G>A (p.Arg370=) c.1101G>A (p.Arg367=) | ClinVar dbSNP |
| 3 | g.123319732C>A | CA354217854 | ADCY5 | c.875G>T (p.Arg292Leu) c.1163G>T (p.Arg388Leu) c.2198G>T (p.Arg733Leu) n.457G>T c.1148G>T (p.Arg383Leu) c.1097G>T (p.Arg366Leu) c.1199G>T (p.Arg400Leu) c.1109G>T (p.Arg370Leu) c.1100G>T (p.Arg367Leu) | |
| 3 | g.123319732C= | CA1398343561 | ADCY5 | c.875G= (p.Arg292=) c.1163G= (p.Arg388=) c.2198G= (p.Arg733=) n.457G= c.1148G= (p.Arg383=) c.1097G= (p.Arg366=) c.1199G= (p.Arg400=) c.1109G= (p.Arg370=) c.1100G= (p.Arg367=) | |
| 3 | g.123319732C>G | CA354217855 | ADCY5 | c.875G>C (p.Arg292Pro) c.1163G>C (p.Arg388Pro) c.2198G>C (p.Arg733Pro) n.457G>C c.1148G>C (p.Arg383Pro) c.1097G>C (p.Arg366Pro) c.1199G>C (p.Arg400Pro) c.1109G>C (p.Arg370Pro) c.1100G>C (p.Arg367Pro) | |
| 3 | g.123319732C>T | CA2577220 | ADCY5 | c.875G>A (p.Arg292Gln) c.1163G>A (p.Arg388Gln) c.2198G>A (p.Arg733Gln) n.457G>A c.1148G>A (p.Arg383Gln) c.1097G>A (p.Arg366Gln) c.1199G>A (p.Arg400Gln) c.1109G>A (p.Arg370Gln) c.1100G>A (p.Arg367Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319733G>A | CA354217856 | ADCY5 | c.874C>T (p.Arg292Trp) c.1162C>T (p.Arg388Trp) c.2197C>T (p.Arg733Trp) n.456C>T c.1147C>T (p.Arg383Trp) c.1096C>T (p.Arg366Trp) c.1198C>T (p.Arg400Trp) c.1108C>T (p.Arg370Trp) c.1099C>T (p.Arg367Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319733G>C | CA354217857 | ADCY5 | c.874C>G (p.Arg292Gly) c.1162C>G (p.Arg388Gly) c.2197C>G (p.Arg733Gly) n.456C>G c.1147C>G (p.Arg383Gly) c.1096C>G (p.Arg366Gly) c.1198C>G (p.Arg400Gly) c.1108C>G (p.Arg370Gly) c.1099C>G (p.Arg367Gly) | |
| 3 | g.123319733G= | CA1398343562 | ADCY5 | c.874C= (p.Arg292=) c.1162C= (p.Arg388=) c.2197C= (p.Arg733=) n.456C= c.1147C= (p.Arg383=) c.1096C= (p.Arg366=) c.1198C= (p.Arg400=) c.1108C= (p.Arg370=) c.1099C= (p.Arg367=) | |
| 3 | g.123319733G>T | CA435293167 | ADCY5 | c.874C>A (p.Arg292=) c.1162C>A (p.Arg388=) c.2197C>A (p.Arg733=) n.456C>A c.1147C>A (p.Arg383=) c.1096C>A (p.Arg366=) c.1198C>A (p.Arg400=) c.1108C>A (p.Arg370=) c.1099C>A (p.Arg367=) | |
| 3 | g.123319734A>C | CA435293168 | ADCY5 | c.873T>G (p.Leu291=) c.1161T>G (p.Leu387=) c.2196T>G (p.Leu732=) n.455T>G c.1146T>G (p.Leu382=) c.1095T>G (p.Leu365=) c.1197T>G (p.Leu399=) c.1107T>G (p.Leu369=) c.1098T>G (p.Leu366=) | |
| 3 | g.123319734A>G | CA435293169 | ADCY5 | c.873T>C (p.Leu291=) c.1161T>C (p.Leu387=) c.2196T>C (p.Leu732=) n.455T>C c.1146T>C (p.Leu382=) c.1095T>C (p.Leu365=) c.1197T>C (p.Leu399=) c.1107T>C (p.Leu369=) c.1098T>C (p.Leu366=) | |
| 3 | g.123319734A>T | CA435293170 | ADCY5 | c.873T>A (p.Leu291=) c.1161T>A (p.Leu387=) c.2196T>A (p.Leu732=) n.455T>A c.1146T>A (p.Leu382=) c.1095T>A (p.Leu365=) c.1197T>A (p.Leu399=) c.1107T>A (p.Leu369=) c.1098T>A (p.Leu366=) | |
| 3 | g.123319735A>C | CA354217858 | ADCY5 | c.872T>G (p.Leu291Arg) c.1160T>G (p.Leu387Arg) c.2195T>G (p.Leu732Arg) n.454T>G c.1145T>G (p.Leu382Arg) c.1094T>G (p.Leu365Arg) c.1196T>G (p.Leu399Arg) c.1106T>G (p.Leu369Arg) c.1097T>G (p.Leu366Arg) | |
| 3 | g.123319735A>G | CA354217859 | ADCY5 | c.872T>C (p.Leu291Pro) c.1160T>C (p.Leu387Pro) c.2195T>C (p.Leu732Pro) n.454T>C c.1145T>C (p.Leu382Pro) c.1094T>C (p.Leu365Pro) c.1196T>C (p.Leu399Pro) c.1106T>C (p.Leu369Pro) c.1097T>C (p.Leu366Pro) | |
| 3 | g.123319735A>T | CA354217860 | ADCY5 | c.872T>A (p.Leu291His) c.1160T>A (p.Leu387His) c.2195T>A (p.Leu732His) n.454T>A c.1145T>A (p.Leu382His) c.1094T>A (p.Leu365His) c.1196T>A (p.Leu399His) c.1106T>A (p.Leu369His) c.1097T>A (p.Leu366His) | |
| 3 | g.123319736G>A | CA354217861 | ADCY5 | c.871C>T (p.Leu291Phe) c.1159C>T (p.Leu387Phe) c.2194C>T (p.Leu732Phe) n.453C>T c.1144C>T (p.Leu382Phe) c.1093C>T (p.Leu365Phe) c.1195C>T (p.Leu399Phe) c.1105C>T (p.Leu369Phe) c.1096C>T (p.Leu366Phe) | |
| 3 | g.123319736G>C | CA354217862 | ADCY5 | c.871C>G (p.Leu291Val) c.1159C>G (p.Leu387Val) c.2194C>G (p.Leu732Val) n.453C>G c.1144C>G (p.Leu382Val) c.1093C>G (p.Leu365Val) c.1195C>G (p.Leu399Val) c.1105C>G (p.Leu369Val) c.1096C>G (p.Leu366Val) | |
| 3 | g.123319736G>T | CA354217863 | ADCY5 | c.871C>A (p.Leu291Ile) c.1159C>A (p.Leu387Ile) c.2194C>A (p.Leu732Ile) n.453C>A c.1144C>A (p.Leu382Ile) c.1093C>A (p.Leu365Ile) c.1195C>A (p.Leu399Ile) c.1105C>A (p.Leu369Ile) c.1096C>A (p.Leu366Ile) | |
| 3 | g.123319737C>A | CA354217864 | ADCY5 | c.870G>T (p.Arg290Ser) c.1158G>T (p.Arg386Ser) c.2193G>T (p.Arg731Ser) n.452G>T c.1143G>T (p.Arg381Ser) c.1092G>T (p.Arg364Ser) c.1194G>T (p.Arg398Ser) c.1104G>T (p.Arg368Ser) c.1095G>T (p.Arg365Ser) | |
| 3 | g.123319737C>G | CA354217865 | ADCY5 | c.870G>C (p.Arg290Ser) c.1158G>C (p.Arg386Ser) c.2193G>C (p.Arg731Ser) n.452G>C c.1143G>C (p.Arg381Ser) c.1092G>C (p.Arg364Ser) c.1194G>C (p.Arg398Ser) c.1104G>C (p.Arg368Ser) c.1095G>C (p.Arg365Ser) | |
| 3 | g.123319737C>T | CA435293171 | ADCY5 | c.870G>A (p.Arg290=) c.1158G>A (p.Arg386=) c.2193G>A (p.Arg731=) n.452G>A c.1143G>A (p.Arg381=) c.1092G>A (p.Arg364=) c.1194G>A (p.Arg398=) c.1104G>A (p.Arg368=) c.1095G>A (p.Arg365=) | |
| 3 | g.123319738C>A | CA354217867 | ADCY5 | c.869G>T (p.Arg290Met) c.1157G>T (p.Arg386Met) c.2192G>T (p.Arg731Met) n.451G>T c.1142G>T (p.Arg381Met) c.1091G>T (p.Arg364Met) c.1193G>T (p.Arg398Met) c.1103G>T (p.Arg368Met) c.1094G>T (p.Arg365Met) | |
| 3 | g.123319738C>G | CA354217868 | ADCY5 | c.869G>C (p.Arg290Thr) c.1157G>C (p.Arg386Thr) c.2192G>C (p.Arg731Thr) n.451G>C c.1142G>C (p.Arg381Thr) c.1091G>C (p.Arg364Thr) c.1193G>C (p.Arg398Thr) c.1103G>C (p.Arg368Thr) c.1094G>C (p.Arg365Thr) | |
| 3 | g.123319738C>T | CA354217866 | ADCY5 | c.869G>A (p.Arg290Lys) c.1157G>A (p.Arg386Lys) c.2192G>A (p.Arg731Lys) n.451G>A c.1142G>A (p.Arg381Lys) c.1091G>A (p.Arg364Lys) c.1193G>A (p.Arg398Lys) c.1103G>A (p.Arg368Lys) c.1094G>A (p.Arg365Lys) | |
| 3 | g.123319739T>A | CA354217870 | ADCY5 | c.868A>T (p.Arg290Trp) c.1156A>T (p.Arg386Trp) c.2191A>T (p.Arg731Trp) n.450A>T c.1141A>T (p.Arg381Trp) c.1090A>T (p.Arg364Trp) c.1192A>T (p.Arg398Trp) c.1102A>T (p.Arg368Trp) c.1093A>T (p.Arg365Trp) | |
| 3 | g.123319739T>C | CA354217869 | ADCY5 | c.868A>G (p.Arg290Gly) c.1156A>G (p.Arg386Gly) c.2191A>G (p.Arg731Gly) n.450A>G c.1141A>G (p.Arg381Gly) c.1090A>G (p.Arg364Gly) c.1192A>G (p.Arg398Gly) c.1102A>G (p.Arg368Gly) c.1093A>G (p.Arg365Gly) | |
| 3 | g.123319739T>G | CA435293172 | ADCY5 | c.868A>C (p.Arg290=) c.1156A>C (p.Arg386=) c.2191A>C (p.Arg731=) n.450A>C c.1141A>C (p.Arg381=) c.1090A>C (p.Arg364=) c.1192A>C (p.Arg398=) c.1102A>C (p.Arg368=) c.1093A>C (p.Arg365=) | |
| 3 | g.123319740A>C | CA354217871 | ADCY5 | c.867T>G (p.Asp289Glu) c.1155T>G (p.Asp385Glu) c.2190T>G (p.Asp730Glu) n.449T>G c.1140T>G (p.Asp380Glu) c.1089T>G (p.Asp363Glu) c.1191T>G (p.Asp397Glu) c.1101T>G (p.Asp367Glu) c.1092T>G (p.Asp364Glu) | gnomAD v4 |
| 3 | g.123319740A>G | CA435293173 | ADCY5 | c.867T>C (p.Asp289=) c.1155T>C (p.Asp385=) c.2190T>C (p.Asp730=) n.449T>C c.1140T>C (p.Asp380=) c.1089T>C (p.Asp363=) c.1191T>C (p.Asp397=) c.1101T>C (p.Asp367=) c.1092T>C (p.Asp364=) | |
| 3 | g.123319740A>T | CA354217872 | ADCY5 | c.867T>A (p.Asp289Glu) c.1155T>A (p.Asp385Glu) c.2190T>A (p.Asp730Glu) n.449T>A c.1140T>A (p.Asp380Glu) c.1089T>A (p.Asp363Glu) c.1191T>A (p.Asp397Glu) c.1101T>A (p.Asp367Glu) c.1092T>A (p.Asp364Glu) | |
| 3 | g.123319741T>A | CA354217873 | ADCY5 | c.866A>T (p.Asp289Val) c.1154A>T (p.Asp385Val) c.2189A>T (p.Asp730Val) n.448A>T c.1139A>T (p.Asp380Val) c.1088A>T (p.Asp363Val) c.1190A>T (p.Asp397Val) c.1100A>T (p.Asp367Val) c.1091A>T (p.Asp364Val) | COSMIC |
| 3 | g.123319741T>C | CA354217874 | ADCY5 | c.866A>G (p.Asp289Gly) c.1154A>G (p.Asp385Gly) c.2189A>G (p.Asp730Gly) n.448A>G c.1139A>G (p.Asp380Gly) c.1088A>G (p.Asp363Gly) c.1190A>G (p.Asp397Gly) c.1100A>G (p.Asp367Gly) c.1091A>G (p.Asp364Gly) | |
| 3 | g.123319741T>G | CA354217875 | ADCY5 | c.866A>C (p.Asp289Ala) c.1154A>C (p.Asp385Ala) c.2189A>C (p.Asp730Ala) n.448A>C c.1139A>C (p.Asp380Ala) c.1088A>C (p.Asp363Ala) c.1190A>C (p.Asp397Ala) c.1100A>C (p.Asp367Ala) c.1091A>C (p.Asp364Ala) | |
| 3 | g.123319742C>A | CA354217876 | ADCY5 | c.865G>T (p.Asp289Tyr) c.1153G>T (p.Asp385Tyr) c.2188G>T (p.Asp730Tyr) n.447G>T c.1138G>T (p.Asp380Tyr) c.1087G>T (p.Asp363Tyr) c.1189G>T (p.Asp397Tyr) c.1099G>T (p.Asp367Tyr) c.1090G>T (p.Asp364Tyr) | |
| 3 | g.123319742C>G | CA354217877 | ADCY5 | c.865G>C (p.Asp289His) c.1153G>C (p.Asp385His) c.2188G>C (p.Asp730His) n.447G>C c.1138G>C (p.Asp380His) c.1087G>C (p.Asp363His) c.1189G>C (p.Asp397His) c.1099G>C (p.Asp367His) c.1090G>C (p.Asp364His) | |
| 3 | g.123319742C>T | CA354217878 | ADCY5 | c.865G>A (p.Asp289Asn) c.1153G>A (p.Asp385Asn) c.2188G>A (p.Asp730Asn) n.447G>A c.1138G>A (p.Asp380Asn) c.1087G>A (p.Asp363Asn) c.1189G>A (p.Asp397Asn) c.1099G>A (p.Asp367Asn) c.1090G>A (p.Asp364Asn) | |
| 3 | g.123319743A>C | CA354217879 | ADCY5 | c.864T>G (p.Ile288Met) c.1152T>G (p.Ile384Met) c.2187T>G (p.Ile729Met) n.446T>G c.1137T>G (p.Ile379Met) c.1086T>G (p.Ile362Met) c.1188T>G (p.Ile396Met) c.1098T>G (p.Ile366Met) c.1089T>G (p.Ile363Met) | |
| 3 | g.123319743A>G | CA435293175 | ADCY5 | c.864T>C (p.Ile288=) c.1152T>C (p.Ile384=) c.2187T>C (p.Ile729=) n.446T>C c.1137T>C (p.Ile379=) c.1086T>C (p.Ile362=) c.1188T>C (p.Ile396=) c.1098T>C (p.Ile366=) c.1089T>C (p.Ile363=) | dbSNP |
| 3 | g.123319743A>T | CA435293174 | ADCY5 | c.864T>A (p.Ile288=) c.1152T>A (p.Ile384=) c.2187T>A (p.Ile729=) n.446T>A c.1137T>A (p.Ile379=) c.1086T>A (p.Ile362=) c.1188T>A (p.Ile396=) c.1098T>A (p.Ile366=) c.1089T>A (p.Ile363=) | |
| 3 | g.123319744A>C | CA354217880 | ADCY5 | c.863T>G (p.Ile288Ser) c.1151T>G (p.Ile384Ser) c.2186T>G (p.Ile729Ser) n.445T>G c.1136T>G (p.Ile379Ser) c.1085T>G (p.Ile362Ser) c.1187T>G (p.Ile396Ser) c.1097T>G (p.Ile366Ser) c.1088T>G (p.Ile363Ser) | |
| 3 | g.123319744A>G | CA354217881 | ADCY5 | c.863T>C (p.Ile288Thr) c.1151T>C (p.Ile384Thr) c.2186T>C (p.Ile729Thr) n.445T>C c.1136T>C (p.Ile379Thr) c.1085T>C (p.Ile362Thr) c.1187T>C (p.Ile396Thr) c.1097T>C (p.Ile366Thr) c.1088T>C (p.Ile363Thr) | gnomAD v4 |
| 3 | g.123319744A>T | CA354217882 | ADCY5 | c.863T>A (p.Ile288Asn) c.1151T>A (p.Ile384Asn) c.2186T>A (p.Ile729Asn) n.445T>A c.1136T>A (p.Ile379Asn) c.1085T>A (p.Ile362Asn) c.1187T>A (p.Ile396Asn) c.1097T>A (p.Ile366Asn) c.1088T>A (p.Ile363Asn) | |
| 3 | g.123319745T>A | CA354217885 | ADCY5 | c.862A>T (p.Ile288Phe) c.1150A>T (p.Ile384Phe) c.2185A>T (p.Ile729Phe) n.444A>T c.1135A>T (p.Ile379Phe) c.1084A>T (p.Ile362Phe) c.1186A>T (p.Ile396Phe) c.1096A>T (p.Ile366Phe) c.1087A>T (p.Ile363Phe) | |
| 3 | g.123319745T>C | CA354217883 | ADCY5 | c.862A>G (p.Ile288Val) c.1150A>G (p.Ile384Val) c.2185A>G (p.Ile729Val) n.444A>G c.1135A>G (p.Ile379Val) c.1084A>G (p.Ile362Val) c.1186A>G (p.Ile396Val) c.1096A>G (p.Ile366Val) c.1087A>G (p.Ile363Val) | gnomAD v4 |
| 3 | g.123319745T>G | CA354217884 | ADCY5 | c.862A>C (p.Ile288Leu) c.1150A>C (p.Ile384Leu) c.2185A>C (p.Ile729Leu) n.444A>C c.1135A>C (p.Ile379Leu) c.1084A>C (p.Ile362Leu) c.1186A>C (p.Ile396Leu) c.1096A>C (p.Ile366Leu) c.1087A>C (p.Ile363Leu) | |
| 3 | g.123319746G>A | CA435293176 | ADCY5 | c.861C>T (p.Ser287=) c.1149C>T (p.Ser383=) c.2184C>T (p.Ser728=) n.443C>T c.1134C>T (p.Ser378=) c.1083C>T (p.Ser361=) c.1185C>T (p.Ser395=) c.1095C>T (p.Ser365=) c.1086C>T (p.Ser362=) | |
| 3 | g.123319746G>C | CA354217886 | ADCY5 | c.861C>G (p.Ser287Arg) c.1149C>G (p.Ser383Arg) c.2184C>G (p.Ser728Arg) n.443C>G c.1134C>G (p.Ser378Arg) c.1083C>G (p.Ser361Arg) c.1185C>G (p.Ser395Arg) c.1095C>G (p.Ser365Arg) c.1086C>G (p.Ser362Arg) | |
| 3 | g.123319746G>T | CA354217887 | ADCY5 | c.861C>A (p.Ser287Arg) c.1149C>A (p.Ser383Arg) c.2184C>A (p.Ser728Arg) n.443C>A c.1134C>A (p.Ser378Arg) c.1083C>A (p.Ser361Arg) c.1185C>A (p.Ser395Arg) c.1095C>A (p.Ser365Arg) c.1086C>A (p.Ser362Arg) | |
| 3 | g.123319747C>A | CA354217888 | ADCY5 | c.860G>T (p.Ser287Ile) c.1148G>T (p.Ser383Ile) c.2183G>T (p.Ser728Ile) n.442G>T c.1133G>T (p.Ser378Ile) c.1082G>T (p.Ser361Ile) c.1184G>T (p.Ser395Ile) c.1094G>T (p.Ser365Ile) c.1085G>T (p.Ser362Ile) | |
| 3 | g.123319747C>G | CA354217889 | ADCY5 | c.860G>C (p.Ser287Thr) c.1148G>C (p.Ser383Thr) c.2183G>C (p.Ser728Thr) n.442G>C c.1133G>C (p.Ser378Thr) c.1082G>C (p.Ser361Thr) c.1184G>C (p.Ser395Thr) c.1094G>C (p.Ser365Thr) c.1085G>C (p.Ser362Thr) | |
| 3 | g.123319747C>T | CA354217890 | ADCY5 | c.860G>A (p.Ser287Asn) c.1148G>A (p.Ser383Asn) c.2183G>A (p.Ser728Asn) n.442G>A c.1133G>A (p.Ser378Asn) c.1082G>A (p.Ser361Asn) c.1184G>A (p.Ser395Asn) c.1094G>A (p.Ser365Asn) c.1085G>A (p.Ser362Asn) | COSMIC |
| 3 | g.123319748T>A | CA354217891 | ADCY5 | c.859A>T (p.Ser287Cys) c.1147A>T (p.Ser383Cys) c.2182A>T (p.Ser728Cys) n.441A>T c.1132A>T (p.Ser378Cys) c.1081A>T (p.Ser361Cys) c.1183A>T (p.Ser395Cys) c.1093A>T (p.Ser365Cys) c.1084A>T (p.Ser362Cys) | |
| 3 | g.123319748T>C | CA354217892 | ADCY5 | c.859A>G (p.Ser287Gly) c.1147A>G (p.Ser383Gly) c.2182A>G (p.Ser728Gly) n.441A>G c.1132A>G (p.Ser378Gly) c.1081A>G (p.Ser361Gly) c.1183A>G (p.Ser395Gly) c.1093A>G (p.Ser365Gly) c.1084A>G (p.Ser362Gly) | |
| 3 | g.123319748T>G | CA354217893 | ADCY5 | c.859A>C (p.Ser287Arg) c.1147A>C (p.Ser383Arg) c.2182A>C (p.Ser728Arg) n.441A>C c.1132A>C (p.Ser378Arg) c.1081A>C (p.Ser361Arg) c.1183A>C (p.Ser395Arg) c.1093A>C (p.Ser365Arg) c.1084A>C (p.Ser362Arg) | |
| 3 | g.123319749C>A | CA354217894 | ADCY5 | c.858G>T (p.Arg286Ser) c.1146G>T (p.Arg382Ser) c.2181G>T (p.Arg727Ser) n.440G>T c.1131G>T (p.Arg377Ser) c.1080G>T (p.Arg360Ser) c.1182G>T (p.Arg394Ser) c.1092G>T (p.Arg364Ser) c.1083G>T (p.Arg361Ser) | |
| 3 | g.123319749C>G | CA354217895 | ADCY5 | c.858G>C (p.Arg286Ser) c.1146G>C (p.Arg382Ser) c.2181G>C (p.Arg727Ser) n.440G>C c.1131G>C (p.Arg377Ser) c.1080G>C (p.Arg360Ser) c.1182G>C (p.Arg394Ser) c.1092G>C (p.Arg364Ser) c.1083G>C (p.Arg361Ser) | |
| 3 | g.123319749C>T | CA435293177 | ADCY5 | c.858G>A (p.Arg286=) c.1146G>A (p.Arg382=) c.2181G>A (p.Arg727=) n.440G>A c.1131G>A (p.Arg377=) c.1080G>A (p.Arg360=) c.1182G>A (p.Arg394=) c.1092G>A (p.Arg364=) c.1083G>A (p.Arg361=) | gnomAD v4 |
| 3 | g.123319750C>A | CA354217896 | ADCY5 | c.857G>T (p.Arg286Met) c.1145G>T (p.Arg382Met) c.2180G>T (p.Arg727Met) n.439G>T c.1130G>T (p.Arg377Met) c.1079G>T (p.Arg360Met) c.1181G>T (p.Arg394Met) c.1091G>T (p.Arg364Met) c.1082G>T (p.Arg361Met) | |
| 3 | g.123319750C>G | CA354217897 | ADCY5 | c.857G>C (p.Arg286Thr) c.1145G>C (p.Arg382Thr) c.2180G>C (p.Arg727Thr) n.439G>C c.1130G>C (p.Arg377Thr) c.1079G>C (p.Arg360Thr) c.1181G>C (p.Arg394Thr) c.1091G>C (p.Arg364Thr) c.1082G>C (p.Arg361Thr) | |
| 3 | g.123319750C>T | CA354217898 | ADCY5 | c.857G>A (p.Arg286Lys) c.1145G>A (p.Arg382Lys) c.2180G>A (p.Arg727Lys) n.439G>A c.1130G>A (p.Arg377Lys) c.1079G>A (p.Arg360Lys) c.1181G>A (p.Arg394Lys) c.1091G>A (p.Arg364Lys) c.1082G>A (p.Arg361Lys) | |
| 3 | g.123319751T>A | CA354217899 | ADCY5 | c.856A>T (p.Arg286Trp) c.1144A>T (p.Arg382Trp) c.2179A>T (p.Arg727Trp) n.438A>T c.1129A>T (p.Arg377Trp) c.1078A>T (p.Arg360Trp) c.1180A>T (p.Arg394Trp) c.1090A>T (p.Arg364Trp) c.1081A>T (p.Arg361Trp) | |
| 3 | g.123319751T>C | CA354217900 | ADCY5 | c.856A>G (p.Arg286Gly) c.1144A>G (p.Arg382Gly) c.2179A>G (p.Arg727Gly) n.438A>G c.1129A>G (p.Arg377Gly) c.1078A>G (p.Arg360Gly) c.1180A>G (p.Arg394Gly) c.1090A>G (p.Arg364Gly) c.1081A>G (p.Arg361Gly) | ClinVar |
| 3 | g.123319751T>G | CA435293178 | ADCY5 | c.856A>C (p.Arg286=) c.1144A>C (p.Arg382=) c.2179A>C (p.Arg727=) n.438A>C c.1129A>C (p.Arg377=) c.1078A>C (p.Arg360=) c.1180A>C (p.Arg394=) c.1090A>C (p.Arg364=) c.1081A>C (p.Arg361=) | |
| 3 | g.123319752G>A | CA435293179 | ADCY5 | c.855C>T (p.Ala285=) c.1143C>T (p.Ala381=) c.2178C>T (p.Ala726=) n.437C>T c.1128C>T (p.Ala376=) c.1077C>T (p.Ala359=) c.1179C>T (p.Ala393=) c.1089C>T (p.Ala363=) c.1080C>T (p.Ala360=) | |
| 3 | g.123319752G>C | CA435293180 | ADCY5 | c.855C>G (p.Ala285=) c.1143C>G (p.Ala381=) c.2178C>G (p.Ala726=) n.437C>G c.1128C>G (p.Ala376=) c.1077C>G (p.Ala359=) c.1179C>G (p.Ala393=) c.1089C>G (p.Ala363=) c.1080C>G (p.Ala360=) | |
| 3 | g.123319752G>T | CA435293181 | ADCY5 | c.855C>A (p.Ala285=) c.1143C>A (p.Ala381=) c.2178C>A (p.Ala726=) n.437C>A c.1128C>A (p.Ala376=) c.1077C>A (p.Ala359=) c.1179C>A (p.Ala393=) c.1089C>A (p.Ala363=) c.1080C>A (p.Ala360=) | |
| 3 | g.123319753G>A | CA354217901 | ADCY5 | c.854C>T (p.Ala285Val) c.1142C>T (p.Ala381Val) c.2177C>T (p.Ala726Val) n.436C>T c.1127C>T (p.Ala376Val) c.1076C>T (p.Ala359Val) c.1178C>T (p.Ala393Val) c.1088C>T (p.Ala363Val) c.1079C>T (p.Ala360Val) | |
| 3 | g.123319753G>C | CA354217902 | ADCY5 | c.854C>G (p.Ala285Gly) c.1142C>G (p.Ala381Gly) c.2177C>G (p.Ala726Gly) n.436C>G c.1127C>G (p.Ala376Gly) c.1076C>G (p.Ala359Gly) c.1178C>G (p.Ala393Gly) c.1088C>G (p.Ala363Gly) c.1079C>G (p.Ala360Gly) | |
| 3 | g.123319753G>T | CA354217903 | ADCY5 | c.854C>A (p.Ala285Asp) c.1142C>A (p.Ala381Asp) c.2177C>A (p.Ala726Asp) n.436C>A c.1127C>A (p.Ala376Asp) c.1076C>A (p.Ala359Asp) c.1178C>A (p.Ala393Asp) c.1088C>A (p.Ala363Asp) c.1079C>A (p.Ala360Asp) | |
| 3 | g.123319754C>A | CA354217904 | ADCY5 | c.853G>T (p.Ala285Ser) c.1141G>T (p.Ala381Ser) c.2176G>T (p.Ala726Ser) n.435G>T c.1126G>T (p.Ala376Ser) c.1075G>T (p.Ala359Ser) c.1177G>T (p.Ala393Ser) c.1087G>T (p.Ala363Ser) c.1078G>T (p.Ala360Ser) | |
| 3 | g.123319754C= | CA1398343563 | ADCY5 | c.853G= (p.Ala285=) c.1141G= (p.Ala381=) c.2176G= (p.Ala726=) n.435G= c.1126G= (p.Ala376=) c.1075G= (p.Ala359=) c.1177G= (p.Ala393=) c.1087G= (p.Ala363=) c.1078G= (p.Ala360=) | |
| 3 | g.123319754C>G | CA354217905 | ADCY5 | c.853G>C (p.Ala285Pro) c.1141G>C (p.Ala381Pro) c.2176G>C (p.Ala726Pro) n.435G>C c.1126G>C (p.Ala376Pro) c.1075G>C (p.Ala359Pro) c.1177G>C (p.Ala393Pro) c.1087G>C (p.Ala363Pro) c.1078G>C (p.Ala360Pro) | |
| 3 | g.123319754C>T | CA342901 | ADCY5 | c.853G>A (p.Ala285Thr) c.1141G>A (p.Ala381Thr) c.2176G>A (p.Ala726Thr) n.435G>A c.1126G>A (p.Ala376Thr) c.1075G>A (p.Ala359Thr) c.1177G>A (p.Ala393Thr) c.1087G>A (p.Ala363Thr) c.1078G>A (p.Ala360Thr) | ClinVar dbSNP |
| 3 | g.123319755G>A | CA2577221 | ADCY5 | c.852C>T (p.Asp284=) c.1140C>T (p.Asp380=) c.2175C>T (p.Asp725=) n.434C>T c.1125C>T (p.Asp375=) c.1074C>T (p.Asp358=) c.1176C>T (p.Asp392=) c.1086C>T (p.Asp362=) c.1077C>T (p.Asp359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319755G>C | CA354217906 | ADCY5 | c.852C>G (p.Asp284Glu) c.1140C>G (p.Asp380Glu) c.2175C>G (p.Asp725Glu) n.434C>G c.1125C>G (p.Asp375Glu) c.1074C>G (p.Asp358Glu) c.1176C>G (p.Asp392Glu) c.1086C>G (p.Asp362Glu) c.1077C>G (p.Asp359Glu) | |
| 3 | g.123319755G= | CA1398343564 | ADCY5 | c.852C= (p.Asp284=) c.1140C= (p.Asp380=) c.2175C= (p.Asp725=) n.434C= c.1125C= (p.Asp375=) c.1074C= (p.Asp358=) c.1176C= (p.Asp392=) c.1086C= (p.Asp362=) c.1077C= (p.Asp359=) | |
| 3 | g.123319755G>T | CA354217907 | ADCY5 | c.852C>A (p.Asp284Glu) c.1140C>A (p.Asp380Glu) c.2175C>A (p.Asp725Glu) n.434C>A c.1125C>A (p.Asp375Glu) c.1074C>A (p.Asp358Glu) c.1176C>A (p.Asp392Glu) c.1086C>A (p.Asp362Glu) c.1077C>A (p.Asp359Glu) | |
| 3 | g.123319756T>A | CA354217908 | ADCY5 | c.851A>T (p.Asp284Val) c.1139A>T (p.Asp380Val) c.2174A>T (p.Asp725Val) n.433A>T c.1124A>T (p.Asp375Val) c.1073A>T (p.Asp358Val) c.1175A>T (p.Asp392Val) c.1085A>T (p.Asp362Val) c.1076A>T (p.Asp359Val) | |
| 3 | g.123319756T>C | CA354217909 | ADCY5 | c.851A>G (p.Asp284Gly) c.1139A>G (p.Asp380Gly) c.2174A>G (p.Asp725Gly) n.433A>G c.1124A>G (p.Asp375Gly) c.1073A>G (p.Asp358Gly) c.1175A>G (p.Asp392Gly) c.1085A>G (p.Asp362Gly) c.1076A>G (p.Asp359Gly) | |
| 3 | g.123319756T>G | CA354217910 | ADCY5 | c.851A>C (p.Asp284Ala) c.1139A>C (p.Asp380Ala) c.2174A>C (p.Asp725Ala) n.433A>C c.1124A>C (p.Asp375Ala) c.1073A>C (p.Asp358Ala) c.1175A>C (p.Asp392Ala) c.1085A>C (p.Asp362Ala) c.1076A>C (p.Asp359Ala) | |
| 3 | g.123319757C>A | CA354217912 | ADCY5 | c.850G>T (p.Asp284Tyr) c.1138G>T (p.Asp380Tyr) c.2173G>T (p.Asp725Tyr) n.432G>T c.1123G>T (p.Asp375Tyr) c.1072G>T (p.Asp358Tyr) c.1174G>T (p.Asp392Tyr) c.1084G>T (p.Asp362Tyr) c.1075G>T (p.Asp359Tyr) | |
| 3 | g.123319757C>G | CA354217913 | ADCY5 | c.850G>C (p.Asp284His) c.1138G>C (p.Asp380His) c.2173G>C (p.Asp725His) n.432G>C c.1123G>C (p.Asp375His) c.1072G>C (p.Asp358His) c.1174G>C (p.Asp392His) c.1084G>C (p.Asp362His) c.1075G>C (p.Asp359His) | |
| 3 | g.123319757C>T | CA354217911 | ADCY5 | c.850G>A (p.Asp284Asn) c.1138G>A (p.Asp380Asn) c.2173G>A (p.Asp725Asn) n.432G>A c.1123G>A (p.Asp375Asn) c.1072G>A (p.Asp358Asn) c.1174G>A (p.Asp392Asn) c.1084G>A (p.Asp362Asn) c.1075G>A (p.Asp359Asn) | |
| 3 | g.123319758A>C | CA354217914 | ADCY5 | c.849T>G (p.Ile283Met) c.1137T>G (p.Ile379Met) c.2172T>G (p.Ile724Met) n.431T>G c.1122T>G (p.Ile374Met) c.1071T>G (p.Ile357Met) c.1173T>G (p.Ile391Met) c.1083T>G (p.Ile361Met) c.1074T>G (p.Ile358Met) | |
| 3 | g.123319758A>G | CA435293182 | ADCY5 | c.849T>C (p.Ile283=) c.1137T>C (p.Ile379=) c.2172T>C (p.Ile724=) n.431T>C c.1122T>C (p.Ile374=) c.1071T>C (p.Ile357=) c.1173T>C (p.Ile391=) c.1083T>C (p.Ile361=) c.1074T>C (p.Ile358=) | |
| 3 | g.123319758A>T | CA435293183 | ADCY5 | c.849T>A (p.Ile283=) c.1137T>A (p.Ile379=) c.2172T>A (p.Ile724=) n.431T>A c.1122T>A (p.Ile374=) c.1071T>A (p.Ile357=) c.1173T>A (p.Ile391=) c.1083T>A (p.Ile361=) c.1074T>A (p.Ile358=) |