| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44149801_44149804delinsCAGG | CA1703635868 | GCK | c.*633_*636delinsCCTG (n.*633_*636delinsCCTG) c.635_638delinsCCTG (p.Ser212=) n.1121_1124delinsCCTG c.638_641delinsCCTG (p.Ser213=) c.632_635delinsCCTG (p.Ser211=) c.584_587delinsCCTG (p.Ser195=) | |
| 7 | g.44149804_44149806del | CA213816 | GCK | c.*633_*635del (n.*633_*635del) c.635_637del (p.Ser212del) n.1121_1123del c.638_640del (p.Ser213del) c.632_634del (p.Ser211del) c.584_586del (p.Ser195del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149804G>A | CA157917248 | GCK | c.*633C>T (n.*633C>T) c.635C>T (p.Ser212Phe) n.1121C>T c.638C>T (p.Ser213Phe) c.632C>T (p.Ser211Phe) c.584C>T (p.Ser195Phe) | dbSNP COSMIC |
| 7 | g.44149804G>C | CA367401278 | GCK | c.*633C>G (n.*633C>G) c.635C>G (p.Ser212Cys) n.1121C>G c.638C>G (p.Ser213Cys) c.632C>G (p.Ser211Cys) c.584C>G (p.Ser195Cys) | |
| 7 | g.44149804G= | CA1703635869 | GCK | c.*633C= (n.*633C=) c.635C= (p.Ser212=) n.1121C= c.638C= (p.Ser213=) c.632C= (p.Ser211=) c.584C= (p.Ser195=) | |
| 7 | g.44149804G>T | CA367401276 | GCK | c.*633C>A (n.*633C>A) c.635C>A (p.Ser212Tyr) n.1121C>A c.638C>A (p.Ser213Tyr) c.632C>A (p.Ser211Tyr) c.584C>A (p.Ser195Tyr) | |
| 7 | g.44149805A>C | CA367401279 | GCK | c.*632T>G (n.*632T>G) c.634T>G (p.Ser212Ala) n.1120T>G c.637T>G (p.Ser213Ala) c.631T>G (p.Ser211Ala) c.583T>G (p.Ser195Ala) | |
| 7 | g.44149805A>G | CA367401281 | GCK | c.*632T>C (n.*632T>C) c.634T>C (p.Ser212Pro) n.1120T>C c.637T>C (p.Ser213Pro) c.631T>C (p.Ser211Pro) c.583T>C (p.Ser195Pro) | |
| 7 | g.44149805A>T | CA367401282 | GCK | c.*632T>A (n.*632T>A) c.634T>A (p.Ser212Thr) n.1120T>A c.637T>A (p.Ser213Thr) c.631T>A (p.Ser211Thr) c.583T>A (p.Ser195Thr) | |
| 7 | g.44149806G>A | CA454609066 | GCK | c.*631C>T (n.*631C>T) c.633C>T (p.Ile211=) n.1119C>T c.636C>T (p.Ile212=) c.630C>T (p.Ile210=) c.582C>T (p.Ile194=) | |
| 7 | g.44149806G>C | CA367401283 | GCK | c.*631C>G (n.*631C>G) c.633C>G (p.Ile211Met) n.1119C>G c.636C>G (p.Ile212Met) c.630C>G (p.Ile210Met) c.582C>G (p.Ile194Met) | |
| 7 | g.44149806G>T | CA454609070 | GCK | c.*631C>A (n.*631C>A) c.633C>A (p.Ile211=) n.1119C>A c.636C>A (p.Ile212=) c.630C>A (p.Ile210=) c.582C>A (p.Ile194=) | |
| 7 | g.44149807A= | CA1703635870 | GCK | c.*630T= (n.*630T=) c.632T= (p.Ile211=) n.1118T= c.635T= (p.Ile212=) c.629T= (p.Ile210=) c.581T= (p.Ile194=) | |
| 7 | g.44149807A>C | CA367401288 | GCK | c.*630T>G (n.*630T>G) c.632T>G (p.Ile211Ser) n.1118T>G c.635T>G (p.Ile212Ser) c.629T>G (p.Ile210Ser) c.581T>G (p.Ile194Ser) | |
| 7 | g.44149807A>G | CA367401287 | GCK | c.*630T>C (n.*630T>C) c.632T>C (p.Ile211Thr) n.1118T>C c.635T>C (p.Ile212Thr) c.629T>C (p.Ile210Thr) c.581T>C (p.Ile194Thr) | ClinVar |
| 7 | g.44149807A>T | CA367401285 | GCK | c.*630T>A (n.*630T>A) c.632T>A (p.Ile211Asn) n.1118T>A c.635T>A (p.Ile212Asn) c.629T>A (p.Ile210Asn) c.581T>A (p.Ile194Asn) | ClinVar dbSNP |
| 7 | g.44149810_44149812dup | CA2580615881 | GCK | c.*628_*630dup (n.*628_*630dup) c.630_632dup (p.Met210_Ile211insMet) n.1116_1118dup c.633_635dup (p.Met211_Ile212insMet) c.627_629dup (p.Met209_Ile210insMet) c.579_581dup (p.Met193_Ile194insMet) | ClinVar |
| 7 | g.44149808T>A | CA367401290 | GCK | c.*629A>T (n.*629A>T) c.631A>T (p.Ile211Phe) n.1117A>T c.634A>T (p.Ile212Phe) c.628A>T (p.Ile210Phe) c.580A>T (p.Ile194Phe) | |
| 7 | g.44149808T>C | CA4239567 | GCK | c.*629A>G (n.*629A>G) c.631A>G (p.Ile211Val) n.1117A>G c.634A>G (p.Ile212Val) c.628A>G (p.Ile210Val) c.580A>G (p.Ile194Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149808T>G | CA367401292 | GCK | c.*629A>C (n.*629A>C) c.631A>C (p.Ile211Leu) n.1117A>C c.634A>C (p.Ile212Leu) c.628A>C (p.Ile210Leu) c.580A>C (p.Ile194Leu) | |
| 7 | g.44149808T= | CA1703635871 | GCK | c.*629A= (n.*629A=) c.631A= (p.Ile211=) n.1117A= c.634A= (p.Ile212=) c.628A= (p.Ile210=) c.580A= (p.Ile194=) | |
| 7 | g.44149809C>A | CA213814 | GCK | c.*628G>T (n.*628G>T) c.630G>T (p.Met210Ile) n.1116G>T c.633G>T (p.Met211Ile) c.627G>T (p.Met209Ile) c.579G>T (p.Met193Ile) | ClinVar dbSNP |
| 7 | g.44149809C= | CA1703635872 | GCK | c.*628G= (n.*628G=) c.630G= (p.Met210=) n.1116G= c.633G= (p.Met211=) c.627G= (p.Met209=) c.579G= (p.Met193=) | |
| 7 | g.44149809C>G | CA367401294 | GCK | c.*628G>C (n.*628G>C) c.630G>C (p.Met210Ile) n.1116G>C c.633G>C (p.Met211Ile) c.627G>C (p.Met209Ile) c.579G>C (p.Met193Ile) | |
| 7 | g.44149809C>T | CA367401296 | GCK | c.*628G>A (n.*628G>A) c.630G>A (p.Met210Ile) n.1116G>A c.633G>A (p.Met211Ile) c.627G>A (p.Met209Ile) c.579G>A (p.Met193Ile) | ClinVar |
| 7 | g.44149810A= | CA1703635873 | GCK | c.*627T= (n.*627T=) c.629T= (p.Met210=) n.1115T= c.632T= (p.Met211=) c.626T= (p.Met209=) c.578T= (p.Met193=) | |
| 7 | g.44149810A>C | CA367401297 | GCK | c.*627T>G (n.*627T>G) c.629T>G (p.Met210Arg) n.1115T>G c.632T>G (p.Met211Arg) c.626T>G (p.Met209Arg) c.578T>G (p.Met193Arg) | |
| 7 | g.44149810A>G | CA367401300 | GCK | c.*627T>C (n.*627T>C) c.629T>C (p.Met210Thr) n.1115T>C c.632T>C (p.Met211Thr) c.626T>C (p.Met209Thr) c.578T>C (p.Met193Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44149810A>T | CA204367 | GCK | c.*627T>A (n.*627T>A) c.629T>A (p.Met210Lys) n.1115T>A c.632T>A (p.Met211Lys) c.626T>A (p.Met209Lys) c.578T>A (p.Met193Lys) | ClinVar dbSNP |
| 7 | g.44149811T>A | CA367401302 | GCK | c.*626A>T (n.*626A>T) c.628A>T (p.Met210Leu) n.1114A>T c.631A>T (p.Met211Leu) c.625A>T (p.Met209Leu) c.577A>T (p.Met193Leu) | |
| 7 | g.44149811T>C | CA367401305 | GCK | c.*626A>G (n.*626A>G) c.628A>G (p.Met210Val) n.1114A>G c.631A>G (p.Met211Val) c.625A>G (p.Met209Val) c.577A>G (p.Met193Val) | ClinVar |
| 7 | g.44149811T>G | CA367401303 | GCK | c.*626A>C (n.*626A>C) c.628A>C (p.Met210Leu) n.1114A>C c.631A>C (p.Met211Leu) c.625A>C (p.Met209Leu) c.577A>C (p.Met193Leu) | |
| 7 | g.44149811_44149812delinsCT | CA2018007653 | GCK | c.*625_*626delinsAG (n.*625_*626delinsAG) c.627_628delinsAG (p.Met210Val) n.1113_1114delinsAG c.630_631delinsAG (p.Met211Val) c.624_625delinsAG (p.Met209Val) c.576_577delinsAG (p.Met193Val) | ClinVar |
| 7 | g.44149812C>A | CA454609084 | GCK | c.*625G>T (n.*625G>T) c.627G>T (p.Thr209=) n.1113G>T c.630G>T (p.Thr210=) c.624G>T (p.Thr208=) c.576G>T (p.Thr192=) | |
| 7 | g.44149812C= | CA1703635874 | GCK | c.*625G= (n.*625G=) c.627G= (p.Thr209=) n.1113G= c.630G= (p.Thr210=) c.624G= (p.Thr208=) c.576G= (p.Thr192=) | |
| 7 | g.44149812C>G | CA454609083 | GCK | c.*625G>C (n.*625G>C) c.627G>C (p.Thr209=) n.1113G>C c.630G>C (p.Thr210=) c.624G>C (p.Thr208=) c.576G>C (p.Thr192=) | |
| 7 | g.44149812C>T | CA4239568 | GCK | c.*625G>A (n.*625G>A) c.627G>A (p.Thr209=) n.1113G>A c.630G>A (p.Thr210=) c.624G>A (p.Thr208=) c.576G>A (p.Thr192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149813G>A | CA367401309 | GCK | c.*624C>T (n.*624C>T) c.626C>T (p.Thr209Met) n.1112C>T c.629C>T (p.Thr210Met) c.623C>T (p.Thr208Met) c.575C>T (p.Thr192Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149813G>C | CA367401307 | GCK | c.*624C>G (n.*624C>G) c.626C>G (p.Thr209Arg) n.1112C>G c.629C>G (p.Thr210Arg) c.623C>G (p.Thr208Arg) c.575C>G (p.Thr192Arg) | |
| 7 | g.44149813G= | CA1703635875 | GCK | c.*624C= (n.*624C=) c.626C= (p.Thr209=) n.1112C= c.629C= (p.Thr210=) c.623C= (p.Thr208=) c.575C= (p.Thr192=) | |
| 7 | g.44149813G>T | CA367401310 | GCK | c.*624C>A (n.*624C>A) c.626C>A (p.Thr209Lys) n.1112C>A c.629C>A (p.Thr210Lys) c.623C>A (p.Thr208Lys) c.575C>A (p.Thr192Lys) | |
| 7 | g.44149814T>A | CA367401312 | GCK | c.*623A>T (n.*623A>T) c.625A>T (p.Thr209Ser) n.1111A>T c.628A>T (p.Thr210Ser) c.622A>T (p.Thr208Ser) c.574A>T (p.Thr192Ser) | |
| 7 | g.44149814T>C | CA367401315 | GCK | c.*623A>G (n.*623A>G) c.625A>G (p.Thr209Ala) n.1111A>G c.628A>G (p.Thr210Ala) c.622A>G (p.Thr208Ala) c.574A>G (p.Thr192Ala) | |
| 7 | g.44149814T>G | CA367401314 | GCK | c.*623A>C (n.*623A>C) c.625A>C (p.Thr209Pro) n.1111A>C c.628A>C (p.Thr210Pro) c.622A>C (p.Thr208Pro) c.574A>C (p.Thr192Pro) | |
| 7 | g.44149815G>A | CA454609088 | GCK | c.*622C>T (n.*622C>T) c.624C>T (p.Ala208=) n.1110C>T c.627C>T (p.Ala209=) c.621C>T (p.Ala207=) c.573C>T (p.Ala191=) | |
| 7 | g.44149815G>C | CA454609092 | GCK | c.*622C>G (n.*622C>G) c.624C>G (p.Ala208=) n.1110C>G c.627C>G (p.Ala209=) c.621C>G (p.Ala207=) c.573C>G (p.Ala191=) | |
| 7 | g.44149815G>T | CA454609090 | GCK | c.*622C>A (n.*622C>A) c.624C>A (p.Ala208=) n.1110C>A c.627C>A (p.Ala209=) c.621C>A (p.Ala207=) c.573C>A (p.Ala191=) | |
| 7 | g.44149816G>A | CA4239569 | GCK | c.*621C>T (n.*621C>T) c.623C>T (p.Ala208Val) n.1109C>T c.626C>T (p.Ala209Val) c.620C>T (p.Ala207Val) c.572C>T (p.Ala191Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.44149816G>C | CA367401317 | GCK | c.*621C>G (n.*621C>G) c.623C>G (p.Ala208Gly) n.1109C>G c.626C>G (p.Ala209Gly) c.620C>G (p.Ala207Gly) c.572C>G (p.Ala191Gly) |