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 |
|---|---|---|---|---|---|
| 5 | g.161334733C>G | CA2676314969 | GABRB2 | c.832+19G>C (n.832+19G>C) n.914+19G>C c.*291+19G>C (n.*291+19G>C) c.580+19G>C (n.580+19G>C) c.82+19G>C (n.82+19G>C) c.352+19G>C (n.352+19G>C) c.643+19G>C (n.643+19G>C) | gnomAD v4 |
| 5 | g.161334734A= | CA1595985486 | GABRB2 | c.832+18T= (n.832+18T=) n.914+18T= c.*291+18T= (n.*291+18T=) c.580+18T= (n.580+18T=) c.82+18T= (n.82+18T=) c.352+18T= (n.352+18T=) c.643+18T= (n.643+18T=) | |
| 5 | g.161334734A>G | CA1595985487 | GABRB2 | c.832+18T>C (n.832+18T>C) n.914+18T>C c.*291+18T>C (n.*291+18T>C) c.580+18T>C (n.580+18T>C) c.82+18T>C (n.82+18T>C) c.352+18T>C (n.352+18T>C) c.643+18T>C (n.643+18T>C) | dbSNP gnomAD v4 |
| 5 | g.161334735G>A | CA564127203 | GABRB2 | c.832+17C>T (n.832+17C>T) n.914+17C>T c.*291+17C>T (n.*291+17C>T) c.580+17C>T (n.580+17C>T) c.82+17C>T (n.82+17C>T) c.352+17C>T (n.352+17C>T) c.643+17C>T (n.643+17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334735G= | CA1595985488 | GABRB2 | c.832+17C= (n.832+17C=) n.914+17C= c.*291+17C= (n.*291+17C=) c.580+17C= (n.580+17C=) c.82+17C= (n.82+17C=) c.352+17C= (n.352+17C=) c.643+17C= (n.643+17C=) | |
| 5 | g.161334735G>T | CA2676314970 | GABRB2 | c.832+17C>A (n.832+17C>A) n.914+17C>A c.*291+17C>A (n.*291+17C>A) c.580+17C>A (n.580+17C>A) c.82+17C>A (n.82+17C>A) c.352+17C>A (n.352+17C>A) c.643+17C>A (n.643+17C>A) | gnomAD v4 |
| 5 | g.161334736T>A | CA2573139339 | GABRB2 | c.832+16A>T (n.832+16A>T) n.914+16A>T c.*291+16A>T (n.*291+16A>T) c.580+16A>T (n.580+16A>T) c.82+16A>T (n.82+16A>T) c.352+16A>T (n.352+16A>T) c.643+16A>T (n.643+16A>T) | ClinVar dbSNP |
| 5 | g.161334736T>C | CA564127205 | GABRB2 | c.832+16A>G (n.832+16A>G) n.914+16A>G c.*291+16A>G (n.*291+16A>G) c.580+16A>G (n.580+16A>G) c.82+16A>G (n.82+16A>G) c.352+16A>G (n.352+16A>G) c.643+16A>G (n.643+16A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334736T= | CA1595985489 | GABRB2 | c.832+16A= (n.832+16A=) n.914+16A= c.*291+16A= (n.*291+16A=) c.580+16A= (n.580+16A=) c.82+16A= (n.82+16A=) c.352+16A= (n.352+16A=) c.643+16A= (n.643+16A=) | |
| 5 | g.161334739T>C | CA3543472 | GABRB2 | c.832+13A>G (n.832+13A>G) n.914+13A>G c.*291+13A>G (n.*291+13A>G) c.580+13A>G (n.580+13A>G) c.82+13A>G (n.82+13A>G) c.352+13A>G (n.352+13A>G) c.643+13A>G (n.643+13A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334739T= | CA1595985490 | GABRB2 | c.832+13A= (n.832+13A=) n.914+13A= c.*291+13A= (n.*291+13A=) c.580+13A= (n.580+13A=) c.82+13A= (n.82+13A=) c.352+13A= (n.352+13A=) c.643+13A= (n.643+13A=) | |
| 5 | g.161334740A= | CA1595985491 | GABRB2 | c.832+12T= (n.832+12T=) n.914+12T= c.*291+12T= (n.*291+12T=) c.580+12T= (n.580+12T=) c.82+12T= (n.82+12T=) c.352+12T= (n.352+12T=) c.643+12T= (n.643+12T=) | |
| 5 | g.161334740A>C | CA564127209 | GABRB2 | c.832+12T>G (n.832+12T>G) n.914+12T>G c.*291+12T>G (n.*291+12T>G) c.580+12T>G (n.580+12T>G) c.82+12T>G (n.82+12T>G) c.352+12T>G (n.352+12T>G) c.643+12T>G (n.643+12T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334741A= | CA1595985492 | GABRB2 | c.832+11T= (n.832+11T=) n.914+11T= c.*291+11T= (n.*291+11T=) c.580+11T= (n.580+11T=) c.82+11T= (n.82+11T=) c.352+11T= (n.352+11T=) c.643+11T= (n.643+11T=) | |
| 5 | g.161334741A>G | CA1595985493 | GABRB2 | c.832+11T>C (n.832+11T>C) n.914+11T>C c.*291+11T>C (n.*291+11T>C) c.580+11T>C (n.580+11T>C) c.82+11T>C (n.82+11T>C) c.352+11T>C (n.352+11T>C) c.643+11T>C (n.643+11T>C) | dbSNP |
| 5 | g.161334743A= | CA1595985494 | GABRB2 | c.832+9T= (n.832+9T=) n.914+9T= c.*291+9T= (n.*291+9T=) c.580+9T= (n.580+9T=) c.82+9T= (n.82+9T=) c.352+9T= (n.352+9T=) c.643+9T= (n.643+9T=) | |
| 5 | g.161334743A>G | CA16604845 | GABRB2 | c.832+9T>C (n.832+9T>C) n.914+9T>C c.*291+9T>C (n.*291+9T>C) c.580+9T>C (n.580+9T>C) c.82+9T>C (n.82+9T>C) c.352+9T>C (n.352+9T>C) c.643+9T>C (n.643+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334744T>C | CA2676314971 | GABRB2 | c.832+8A>G (n.832+8A>G) n.914+8A>G c.*291+8A>G (n.*291+8A>G) c.580+8A>G (n.580+8A>G) c.82+8A>G (n.82+8A>G) c.352+8A>G (n.352+8A>G) c.643+8A>G (n.643+8A>G) | gnomAD v4 |
| 5 | g.161334745G>A | CA131020421 | GABRB2 | c.832+7C>T (n.832+7C>T) n.914+7C>T c.*291+7C>T (n.*291+7C>T) c.580+7C>T (n.580+7C>T) c.82+7C>T (n.82+7C>T) c.352+7C>T (n.352+7C>T) c.643+7C>T (n.643+7C>T) | dbSNP |
| 5 | g.161334745G= | CA1595985495 | GABRB2 | c.832+7C= (n.832+7C=) n.914+7C= c.*291+7C= (n.*291+7C=) c.580+7C= (n.580+7C=) c.82+7C= (n.82+7C=) c.352+7C= (n.352+7C=) c.643+7C= (n.643+7C=) | |
| 5 | g.161334746G>C | CA2676314972 | GABRB2 | c.832+6C>G (n.832+6C>G) n.914+6C>G c.*291+6C>G (n.*291+6C>G) c.580+6C>G (n.580+6C>G) c.82+6C>G (n.82+6C>G) c.352+6C>G (n.352+6C>G) c.643+6C>G (n.643+6C>G) | gnomAD v4 |
| 5 | g.161334746G= | CA1595985496 | GABRB2 | c.832+6C= (n.832+6C=) n.914+6C= c.*291+6C= (n.*291+6C=) c.580+6C= (n.580+6C=) c.82+6C= (n.82+6C=) c.352+6C= (n.352+6C=) c.643+6C= (n.643+6C=) | |
| 5 | g.161334746G>T | CA564127210 | GABRB2 | c.832+6C>A (n.832+6C>A) n.914+6C>A c.*291+6C>A (n.*291+6C>A) c.580+6C>A (n.580+6C>A) c.82+6C>A (n.82+6C>A) c.352+6C>A (n.352+6C>A) c.643+6C>A (n.643+6C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334748C>A | CA3543473 | GABRB2 | c.832+4G>T (n.832+4G>T) n.914+4G>T c.*291+4G>T (n.*291+4G>T) c.580+4G>T (n.580+4G>T) c.82+4G>T (n.82+4G>T) c.352+4G>T (n.352+4G>T) c.643+4G>T (n.643+4G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161334748C= | CA1595985497 | GABRB2 | c.832+4G= (n.832+4G=) n.914+4G= c.*291+4G= (n.*291+4G=) c.580+4G= (n.580+4G=) c.82+4G= (n.82+4G=) c.352+4G= (n.352+4G=) c.643+4G= (n.643+4G=) | |
| 5 | g.161334748C>T | CA131020422 | GABRB2 | c.832+4G>A (n.832+4G>A) n.914+4G>A c.*291+4G>A (n.*291+4G>A) c.580+4G>A (n.580+4G>A) c.82+4G>A (n.82+4G>A) c.352+4G>A (n.352+4G>A) c.643+4G>A (n.643+4G>A) | dbSNP COSMIC COSMIC |
| 5 | g.161334749T>C | CA131020423 | GABRB2 | c.832+3A>G (n.832+3A>G) n.914+3A>G c.*291+3A>G (n.*291+3A>G) c.580+3A>G (n.580+3A>G) c.82+3A>G (n.82+3A>G) c.352+3A>G (n.352+3A>G) c.643+3A>G (n.643+3A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161334749T= | CA1595985498 | GABRB2 | c.832+3A= (n.832+3A=) n.914+3A= c.*291+3A= (n.*291+3A=) c.580+3A= (n.580+3A=) c.82+3A= (n.82+3A=) c.352+3A= (n.352+3A=) c.643+3A= (n.643+3A=) | |
| 5 | g.161334750A>C | CA362171459 | GABRB2 | c.832+2T>G (n.832+2T>G) n.914+2T>G c.*291+2T>G (n.*291+2T>G) c.580+2T>G (n.580+2T>G) c.82+2T>G (n.82+2T>G) c.352+2T>G (n.352+2T>G) c.643+2T>G (n.643+2T>G) | |
| 5 | g.161334750A>G | CA362171460 | GABRB2 | c.832+2T>C (n.832+2T>C) n.914+2T>C c.*291+2T>C (n.*291+2T>C) c.580+2T>C (n.580+2T>C) c.82+2T>C (n.82+2T>C) c.352+2T>C (n.352+2T>C) c.643+2T>C (n.643+2T>C) | |
| 5 | g.161334750A>T | CA362171461 | GABRB2 | c.832+2T>A (n.832+2T>A) n.914+2T>A c.*291+2T>A (n.*291+2T>A) c.580+2T>A (n.580+2T>A) c.82+2T>A (n.82+2T>A) c.352+2T>A (n.352+2T>A) c.643+2T>A (n.643+2T>A) | |
| 5 | g.161334751C>A | CA362171462 | GABRB2 | c.832+1G>T (n.832+1G>T) n.914+1G>T c.*291+1G>T (n.*291+1G>T) c.580+1G>T (n.580+1G>T) c.82+1G>T (n.82+1G>T) c.352+1G>T (n.352+1G>T) c.643+1G>T (n.643+1G>T) | |
| 5 | g.161334751C>G | CA362171463 | GABRB2 | c.832+1G>C (n.832+1G>C) n.914+1G>C c.*291+1G>C (n.*291+1G>C) c.580+1G>C (n.580+1G>C) c.82+1G>C (n.82+1G>C) c.352+1G>C (n.352+1G>C) c.643+1G>C (n.643+1G>C) | |
| 5 | g.161334751C>T | CA362171464 | GABRB2 | c.832+1G>A (n.832+1G>A) n.914+1G>A c.*291+1G>A (n.*291+1G>A) c.580+1G>A (n.580+1G>A) c.82+1G>A (n.82+1G>A) c.352+1G>A (n.352+1G>A) c.643+1G>A (n.643+1G>A) | COSMIC COSMIC |
| 5 | g.161334752C>A | CA362171465 | GABRB2 | c.832G>T (p.Gly278Ter) n.914G>T c.*291G>T (n.*291G>T) c.580G>T (p.Gly194Ter) c.82G>T (p.Gly28Ter) c.352G>T (p.Gly118Ter) c.643G>T (p.Gly215Ter) | |
| 5 | g.161334752C>G | CA362171466 | GABRB2 | c.832G>C (p.Gly278Arg) n.914G>C c.*291G>C (n.*291G>C) c.580G>C (p.Gly194Arg) c.82G>C (p.Gly28Arg) c.352G>C (p.Gly118Arg) c.643G>C (p.Gly215Arg) | |
| 5 | g.161334752C>T | CA362171467 | GABRB2 | c.832G>A (p.Gly278Arg) n.914G>A c.*291G>A (n.*291G>A) c.580G>A (p.Gly194Arg) c.82G>A (p.Gly28Arg) c.352G>A (p.Gly118Arg) c.643G>A (p.Gly215Arg) | |
| 5 | g.161334753T>A | CA362171469 | GABRB2 | c.831A>T (p.Leu277Phe) n.913A>T c.*290A>T (n.*290A>T) c.579A>T (p.Leu193Phe) c.81A>T (p.Leu27Phe) c.351A>T (p.Leu117Phe) c.642A>T (p.Leu214Phe) | |
| 5 | g.161334753T>C | CA3543474 | GABRB2 | c.831A>G (p.Leu277=) n.913A>G c.*290A>G (n.*290A>G) c.579A>G (p.Leu193=) c.81A>G (p.Leu27=) c.351A>G (p.Leu117=) c.642A>G (p.Leu214=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334753T>G | CA362171468 | GABRB2 | c.831A>C (p.Leu277Phe) n.913A>C c.*290A>C (n.*290A>C) c.579A>C (p.Leu193Phe) c.81A>C (p.Leu27Phe) c.351A>C (p.Leu117Phe) c.642A>C (p.Leu214Phe) | |
| 5 | g.161334753T= | CA1595985499 | GABRB2 | c.831A= (p.Leu277=) n.913A= c.*290A= (n.*290A=) c.579A= (p.Leu193=) c.81A= (p.Leu27=) c.351A= (p.Leu117=) c.642A= (p.Leu214=) | |
| 5 | g.161334754A= | CA1595985500 | GABRB2 | c.830T= (p.Leu277=) n.912T= c.*289T= (n.*289T=) c.578T= (p.Leu193=) c.80T= (p.Leu27=) c.350T= (p.Leu117=) c.641T= (p.Leu214=) | |
| 5 | g.161334754A>C | CA362171470 | GABRB2 | c.830T>G (p.Leu277Ter) n.912T>G c.*289T>G (n.*289T>G) c.578T>G (p.Leu193Ter) c.80T>G (p.Leu27Ter) c.350T>G (p.Leu117Ter) c.641T>G (p.Leu214Ter) | |
| 5 | g.161334754A>G | CA362171472 | GABRB2 | c.830T>C (p.Leu277Ser) n.912T>C c.*289T>C (n.*289T>C) c.578T>C (p.Leu193Ser) c.80T>C (p.Leu27Ser) c.350T>C (p.Leu117Ser) c.641T>C (p.Leu214Ser) | ClinVar dbSNP |
| 5 | g.161334754A>T | CA362171471 | GABRB2 | c.830T>A (p.Leu277Ter) n.912T>A c.*289T>A (n.*289T>A) c.578T>A (p.Leu193Ter) c.80T>A (p.Leu27Ter) c.350T>A (p.Leu117Ter) c.641T>A (p.Leu214Ter) | |
| 5 | g.161334755A>C | CA362171473 | GABRB2 | c.829T>G (p.Leu277Val) n.911T>G c.*288T>G (n.*288T>G) c.577T>G (p.Leu193Val) c.79T>G (p.Leu27Val) c.349T>G (p.Leu117Val) c.640T>G (p.Leu214Val) | |
| 5 | g.161334755A>G | CA447604063 | GABRB2 | c.829T>C (p.Leu277=) n.911T>C c.*288T>C (n.*288T>C) c.577T>C (p.Leu193=) c.79T>C (p.Leu27=) c.349T>C (p.Leu117=) c.640T>C (p.Leu214=) | |
| 5 | g.161334755A>T | CA362171474 | GABRB2 | c.829T>A (p.Leu277Ile) n.911T>A c.*288T>A (n.*288T>A) c.577T>A (p.Leu193Ile) c.79T>A (p.Leu27Ile) c.349T>A (p.Leu117Ile) c.640T>A (p.Leu214Ile) | |
| 5 | g.161334756T>A | CA447604067 | GABRB2 | c.828A>T (p.Ala276=) n.910A>T c.*287A>T (n.*287A>T) c.576A>T (p.Ala192=) c.78A>T (p.Ala26=) c.348A>T (p.Ala116=) c.639A>T (p.Ala213=) | |
| 5 | g.161334756T>C | CA447604064 | GABRB2 | c.828A>G (p.Ala276=) n.910A>G c.*287A>G (n.*287A>G) c.576A>G (p.Ala192=) c.78A>G (p.Ala26=) c.348A>G (p.Ala116=) c.639A>G (p.Ala213=) | ClinVar |
| 5 | g.161334756T>G | CA447604065 | GABRB2 | c.828A>C (p.Ala276=) n.910A>C c.*287A>C (n.*287A>C) c.576A>C (p.Ala192=) c.78A>C (p.Ala26=) c.348A>C (p.Ala116=) c.639A>C (p.Ala213=) | |
| 5 | g.161334757G>A | CA362171475 | GABRB2 | c.827C>T (p.Ala276Val) n.909C>T c.*286C>T (n.*286C>T) c.575C>T (p.Ala192Val) c.77C>T (p.Ala26Val) c.347C>T (p.Ala116Val) c.638C>T (p.Ala213Val) | |
| 5 | g.161334757G>C | CA362171476 | GABRB2 | c.827C>G (p.Ala276Gly) n.909C>G c.*286C>G (n.*286C>G) c.575C>G (p.Ala192Gly) c.77C>G (p.Ala26Gly) c.347C>G (p.Ala116Gly) c.638C>G (p.Ala213Gly) | |
| 5 | g.161334757G>T | CA362171477 | GABRB2 | c.827C>A (p.Ala276Glu) n.909C>A c.*286C>A (n.*286C>A) c.575C>A (p.Ala192Glu) c.77C>A (p.Ala26Glu) c.347C>A (p.Ala116Glu) c.638C>A (p.Ala213Glu) | |
| 5 | g.161334758C>A | CA362171478 | GABRB2 | c.826G>T (p.Ala276Ser) n.908G>T c.*285G>T (n.*285G>T) c.574G>T (p.Ala192Ser) c.76G>T (p.Ala26Ser) c.346G>T (p.Ala116Ser) c.637G>T (p.Ala213Ser) | |
| 5 | g.161334758C>G | CA362171479 | GABRB2 | c.826G>C (p.Ala276Pro) n.908G>C c.*285G>C (n.*285G>C) c.574G>C (p.Ala192Pro) c.76G>C (p.Ala26Pro) c.346G>C (p.Ala116Pro) c.637G>C (p.Ala213Pro) | |
| 5 | g.161334758C>T | CA362171480 | GABRB2 | c.826G>A (p.Ala276Thr) n.908G>A c.*285G>A (n.*285G>A) c.574G>A (p.Ala192Thr) c.76G>A (p.Ala26Thr) c.346G>A (p.Ala116Thr) c.637G>A (p.Ala213Thr) | |
| 5 | g.161334759C>A | CA447604068 | GABRB2 | c.825G>T (p.Val275=) n.907G>T c.*284G>T (n.*284G>T) c.573G>T (p.Val191=) c.75G>T (p.Val25=) c.345G>T (p.Val115=) c.636G>T (p.Val212=) | |
| 5 | g.161334759C>G | CA447604069 | GABRB2 | c.825G>C (p.Val275=) n.907G>C c.*284G>C (n.*284G>C) c.573G>C (p.Val191=) c.75G>C (p.Val25=) c.345G>C (p.Val115=) c.636G>C (p.Val212=) | |
| 5 | g.161334759C>T | CA447604070 | GABRB2 | c.825G>A (p.Val275=) n.907G>A c.*284G>A (n.*284G>A) c.573G>A (p.Val191=) c.75G>A (p.Val25=) c.345G>A (p.Val115=) c.636G>A (p.Val212=) | COSMIC COSMIC |
| 5 | g.161334760A>C | CA362171481 | GABRB2 | c.824T>G (p.Val275Gly) n.906T>G c.*283T>G (n.*283T>G) c.572T>G (p.Val191Gly) c.74T>G (p.Val25Gly) c.344T>G (p.Val115Gly) c.635T>G (p.Val212Gly) | |
| 5 | g.161334760A>G | CA362171482 | GABRB2 | c.824T>C (p.Val275Ala) n.906T>C c.*283T>C (n.*283T>C) c.572T>C (p.Val191Ala) c.74T>C (p.Val25Ala) c.344T>C (p.Val115Ala) c.635T>C (p.Val212Ala) | |
| 5 | g.161334760A>T | CA362171483 | GABRB2 | c.824T>A (p.Val275Glu) n.906T>A c.*283T>A (n.*283T>A) c.572T>A (p.Val191Glu) c.74T>A (p.Val25Glu) c.344T>A (p.Val115Glu) c.635T>A (p.Val212Glu) | |
| 5 | g.161334761C>A | CA362171486 | GABRB2 | c.823G>T (p.Val275Leu) n.905G>T c.*282G>T (n.*282G>T) c.571G>T (p.Val191Leu) c.73G>T (p.Val25Leu) c.343G>T (p.Val115Leu) c.634G>T (p.Val212Leu) | |
| 5 | g.161334761C>G | CA362171484 | GABRB2 | c.823G>C (p.Val275Leu) n.905G>C c.*282G>C (n.*282G>C) c.571G>C (p.Val191Leu) c.73G>C (p.Val25Leu) c.343G>C (p.Val115Leu) c.634G>C (p.Val212Leu) | |
| 5 | g.161334761C>T | CA362171485 | GABRB2 | c.823G>A (p.Val275Met) n.905G>A c.*282G>A (n.*282G>A) c.571G>A (p.Val191Met) c.73G>A (p.Val25Met) c.343G>A (p.Val115Met) c.634G>A (p.Val212Met) | |
| 5 | g.161334762C>A | CA362171487 | GABRB2 | c.822G>T (p.Arg274Ser) n.904G>T c.*281G>T (n.*281G>T) c.570G>T (p.Arg190Ser) c.72G>T (p.Arg24Ser) c.342G>T (p.Arg114Ser) c.633G>T (p.Arg211Ser) | |
| 5 | g.161334762C>G | CA362171488 | GABRB2 | c.822G>C (p.Arg274Ser) n.904G>C c.*281G>C (n.*281G>C) c.570G>C (p.Arg190Ser) c.72G>C (p.Arg24Ser) c.342G>C (p.Arg114Ser) c.633G>C (p.Arg211Ser) | |
| 5 | g.161334762C>T | CA447604071 | GABRB2 | c.822G>A (p.Arg274=) n.904G>A c.*281G>A (n.*281G>A) c.570G>A (p.Arg190=) c.72G>A (p.Arg24=) c.342G>A (p.Arg114=) c.633G>A (p.Arg211=) | |
| 5 | g.161334763C>A | CA362171489 | GABRB2 | c.821G>T (p.Arg274Met) n.903G>T c.*280G>T (n.*280G>T) c.569G>T (p.Arg190Met) c.71G>T (p.Arg24Met) c.341G>T (p.Arg114Met) c.632G>T (p.Arg211Met) | |
| 5 | g.161334763C>G | CA362171490 | GABRB2 | c.821G>C (p.Arg274Thr) n.903G>C c.*280G>C (n.*280G>C) c.569G>C (p.Arg190Thr) c.71G>C (p.Arg24Thr) c.341G>C (p.Arg114Thr) c.632G>C (p.Arg211Thr) | |
| 5 | g.161334763C>T | CA362171491 | GABRB2 | c.821G>A (p.Arg274Lys) n.903G>A c.*280G>A (n.*280G>A) c.569G>A (p.Arg190Lys) c.71G>A (p.Arg24Lys) c.341G>A (p.Arg114Lys) c.632G>A (p.Arg211Lys) | |
| 5 | g.161334764T>A | CA362171492 | GABRB2 | c.820A>T (p.Arg274Trp) n.902A>T c.*279A>T (n.*279A>T) c.568A>T (p.Arg190Trp) c.70A>T (p.Arg24Trp) c.340A>T (p.Arg114Trp) c.631A>T (p.Arg211Trp) | |
| 5 | g.161334764T>C | CA362171493 | GABRB2 | c.820A>G (p.Arg274Gly) n.902A>G c.*279A>G (n.*279A>G) c.568A>G (p.Arg190Gly) c.70A>G (p.Arg24Gly) c.340A>G (p.Arg114Gly) c.631A>G (p.Arg211Gly) | |
| 5 | g.161334764T>G | CA447604072 | GABRB2 | c.820A>C (p.Arg274=) n.902A>C c.*279A>C (n.*279A>C) c.568A>C (p.Arg190=) c.70A>C (p.Arg24=) c.340A>C (p.Arg114=) c.631A>C (p.Arg211=) | |
| 5 | g.161334765T>A | CA447604074 | GABRB2 | c.819A>T (p.Ala273=) n.901A>T c.*278A>T (n.*278A>T) c.567A>T (p.Ala189=) c.69A>T (p.Ala23=) c.339A>T (p.Ala113=) c.630A>T (p.Ala210=) | |
| 5 | g.161334765T>C | CA447604075 | GABRB2 | c.819A>G (p.Ala273=) n.901A>G c.*278A>G (n.*278A>G) c.567A>G (p.Ala189=) c.69A>G (p.Ala23=) c.339A>G (p.Ala113=) c.630A>G (p.Ala210=) | gnomAD v4 |
| 5 | g.161334765T>G | CA447604073 | GABRB2 | c.819A>C (p.Ala273=) n.901A>C c.*278A>C (n.*278A>C) c.567A>C (p.Ala189=) c.69A>C (p.Ala23=) c.339A>C (p.Ala113=) c.630A>C (p.Ala210=) | |
| 5 | g.161334766G>A | CA362171494 | GABRB2 | c.818C>T (p.Ala273Val) n.900C>T c.*277C>T (n.*277C>T) c.566C>T (p.Ala189Val) c.68C>T (p.Ala23Val) c.338C>T (p.Ala113Val) c.629C>T (p.Ala210Val) | |
| 5 | g.161334766G>C | CA362171495 | GABRB2 | c.818C>G (p.Ala273Gly) n.900C>G c.*277C>G (n.*277C>G) c.566C>G (p.Ala189Gly) c.68C>G (p.Ala23Gly) c.338C>G (p.Ala113Gly) c.629C>G (p.Ala210Gly) | |
| 5 | g.161334766G>T | CA362171496 | GABRB2 | c.818C>A (p.Ala273Glu) n.900C>A c.*277C>A (n.*277C>A) c.566C>A (p.Ala189Glu) c.68C>A (p.Ala23Glu) c.338C>A (p.Ala113Glu) c.629C>A (p.Ala210Glu) | |
| 5 | g.161334767C>A | CA362171498 | GABRB2 | c.817G>T (p.Ala273Ser) n.899G>T c.*276G>T (n.*276G>T) c.565G>T (p.Ala189Ser) c.67G>T (p.Ala23Ser) c.337G>T (p.Ala113Ser) c.628G>T (p.Ala210Ser) | |
| 5 | g.161334767C>G | CA362171499 | GABRB2 | c.817G>C (p.Ala273Pro) n.899G>C c.*276G>C (n.*276G>C) c.565G>C (p.Ala189Pro) c.67G>C (p.Ala23Pro) c.337G>C (p.Ala113Pro) c.628G>C (p.Ala210Pro) | |
| 5 | g.161334767C>T | CA362171497 | GABRB2 | c.817G>A (p.Ala273Thr) n.899G>A c.*276G>A (n.*276G>A) c.565G>A (p.Ala189Thr) c.67G>A (p.Ala23Thr) c.337G>A (p.Ala113Thr) c.628G>A (p.Ala210Thr) | |
| 5 | g.161334768A= | CA1595985501 | GABRB2 | c.816T= (p.Ala272=) n.898T= c.*275T= (n.*275T=) c.564T= (p.Ala188=) c.66T= (p.Ala22=) c.336T= (p.Ala112=) c.627T= (p.Ala209=) | |
| 5 | g.161334768A>C | CA447604078 | GABRB2 | c.816T>G (p.Ala272=) n.898T>G c.*275T>G (n.*275T>G) c.564T>G (p.Ala188=) c.66T>G (p.Ala22=) c.336T>G (p.Ala112=) c.627T>G (p.Ala209=) | |
| 5 | g.161334768A>G | CA447604079 | GABRB2 | c.816T>C (p.Ala272=) n.898T>C c.*275T>C (n.*275T>C) c.564T>C (p.Ala188=) c.66T>C (p.Ala22=) c.336T>C (p.Ala112=) c.627T>C (p.Ala209=) | |
| 5 | g.161334768A>T | CA3543475 | GABRB2 | c.816T>A (p.Ala272=) n.898T>A c.*275T>A (n.*275T>A) c.564T>A (p.Ala188=) c.66T>A (p.Ala22=) c.336T>A (p.Ala112=) c.627T>A (p.Ala209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161334769G>A | CA362171500 | GABRB2 | c.815C>T (p.Ala272Val) n.897C>T c.*274C>T (n.*274C>T) c.563C>T (p.Ala188Val) c.65C>T (p.Ala22Val) c.335C>T (p.Ala112Val) c.626C>T (p.Ala209Val) | ClinVar dbSNP |
| 5 | g.161334769G>C | CA362171501 | GABRB2 | c.815C>G (p.Ala272Gly) n.897C>G c.*274C>G (n.*274C>G) c.563C>G (p.Ala188Gly) c.65C>G (p.Ala22Gly) c.335C>G (p.Ala112Gly) c.626C>G (p.Ala209Gly) | COSMIC COSMIC |
| 5 | g.161334769G= | CA1595985502 | GABRB2 | c.815C= (p.Ala272=) n.897C= c.*274C= (n.*274C=) c.563C= (p.Ala188=) c.65C= (p.Ala22=) c.335C= (p.Ala112=) c.626C= (p.Ala209=) | |
| 5 | g.161334769G>T | CA362171502 | GABRB2 | c.815C>A (p.Ala272Asp) n.897C>A c.*274C>A (n.*274C>A) c.563C>A (p.Ala188Asp) c.65C>A (p.Ala22Asp) c.335C>A (p.Ala112Asp) c.626C>A (p.Ala209Asp) | |
| 5 | g.161334770C>A | CA362171503 | GABRB2 | c.814G>T (p.Ala272Ser) n.896G>T c.*273G>T (n.*273G>T) c.562G>T (p.Ala188Ser) c.64G>T (p.Ala22Ser) c.334G>T (p.Ala112Ser) c.625G>T (p.Ala209Ser) | COSMIC COSMIC |
| 5 | g.161334770C>G | CA362171504 | GABRB2 | c.814G>C (p.Ala272Pro) n.896G>C c.*273G>C (n.*273G>C) c.562G>C (p.Ala188Pro) c.64G>C (p.Ala22Pro) c.334G>C (p.Ala112Pro) c.625G>C (p.Ala209Pro) | |
| 5 | g.161334770C>T | CA362171505 | GABRB2 | c.814G>A (p.Ala272Thr) n.896G>A c.*273G>A (n.*273G>A) c.562G>A (p.Ala188Thr) c.64G>A (p.Ala22Thr) c.334G>A (p.Ala112Thr) c.625G>A (p.Ala209Thr) | ClinVar dbSNP |
| 5 | g.161334771T>A | CA3543476 | GABRB2 | c.813A>T (p.Ser271=) n.895A>T c.*272A>T (n.*272A>T) c.561A>T (p.Ser187=) c.63A>T (p.Ser21=) c.333A>T (p.Ser111=) c.624A>T (p.Ser208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334771T>C | CA447604081 | GABRB2 | c.813A>G (p.Ser271=) n.895A>G c.*272A>G (n.*272A>G) c.561A>G (p.Ser187=) c.63A>G (p.Ser21=) c.333A>G (p.Ser111=) c.624A>G (p.Ser208=) | dbSNP gnomAD v2 |
| 5 | g.161334771T>G | CA447604082 | GABRB2 | c.813A>C (p.Ser271=) n.895A>C c.*272A>C (n.*272A>C) c.561A>C (p.Ser187=) c.63A>C (p.Ser21=) c.333A>C (p.Ser111=) c.624A>C (p.Ser208=) | ClinVar dbSNP |
| 5 | g.161334771T= | CA1595985503 | GABRB2 | c.813A= (p.Ser271=) n.895A= c.*272A= (n.*272A=) c.561A= (p.Ser187=) c.63A= (p.Ser21=) c.333A= (p.Ser111=) c.624A= (p.Ser208=) | |
| 5 | g.161334772G>A | CA362171506 | GABRB2 | c.812C>T (p.Ser271Leu) n.894C>T c.*271C>T (n.*271C>T) c.560C>T (p.Ser187Leu) c.62C>T (p.Ser21Leu) c.332C>T (p.Ser111Leu) c.623C>T (p.Ser208Leu) | |
| 5 | g.161334772G>C | CA362171507 | GABRB2 | c.812C>G (p.Ser271Ter) n.894C>G c.*271C>G (n.*271C>G) c.560C>G (p.Ser187Ter) c.62C>G (p.Ser21Ter) c.332C>G (p.Ser111Ter) c.623C>G (p.Ser208Ter) | |
| 5 | g.161334772G>T | CA362171508 | GABRB2 | c.812C>A (p.Ser271Ter) n.894C>A c.*271C>A (n.*271C>A) c.560C>A (p.Ser187Ter) c.62C>A (p.Ser21Ter) c.332C>A (p.Ser111Ter) c.623C>A (p.Ser208Ter) | |
| 5 | g.161334773A>C | CA362171509 | GABRB2 | c.811T>G (p.Ser271Ala) n.893T>G c.*270T>G (n.*270T>G) c.559T>G (p.Ser187Ala) c.61T>G (p.Ser21Ala) c.331T>G (p.Ser111Ala) c.622T>G (p.Ser208Ala) | |
| 5 | g.161334773A>G | CA362171510 | GABRB2 | c.811T>C (p.Ser271Pro) n.893T>C c.*270T>C (n.*270T>C) c.559T>C (p.Ser187Pro) c.61T>C (p.Ser21Pro) c.331T>C (p.Ser111Pro) c.622T>C (p.Ser208Pro) | |
| 5 | g.161334773A>T | CA362171511 | GABRB2 | c.811T>A (p.Ser271Thr) n.893T>A c.*270T>A (n.*270T>A) c.559T>A (p.Ser187Thr) c.61T>A (p.Ser21Thr) c.331T>A (p.Ser111Thr) c.622T>A (p.Ser208Thr) | |
| 5 | g.161334774A= | CA1595985504 | GABRB2 | c.810T= (p.Ala270=) n.892T= c.*269T= (n.*269T=) c.558T= (p.Ala186=) c.60T= (p.Ala20=) c.330T= (p.Ala110=) c.621T= (p.Ala207=) | |
| 5 | g.161334774A>C | CA131020424 | GABRB2 | c.810T>G (p.Ala270=) n.892T>G c.*269T>G (n.*269T>G) c.558T>G (p.Ala186=) c.60T>G (p.Ala20=) c.330T>G (p.Ala110=) c.621T>G (p.Ala207=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161334774A>G | CA447604083 | GABRB2 | c.810T>C (p.Ala270=) n.892T>C c.*269T>C (n.*269T>C) c.558T>C (p.Ala186=) c.60T>C (p.Ala20=) c.330T>C (p.Ala110=) c.621T>C (p.Ala207=) | |
| 5 | g.161334774A>T | CA447604084 | GABRB2 | c.810T>A (p.Ala270=) n.892T>A c.*269T>A (n.*269T>A) c.558T>A (p.Ala186=) c.60T>A (p.Ala20=) c.330T>A (p.Ala110=) c.621T>A (p.Ala207=) | |
| 5 | g.161334775G>A | CA362171512 | GABRB2 | c.809C>T (p.Ala270Val) n.891C>T c.*268C>T (n.*268C>T) c.557C>T (p.Ala186Val) c.59C>T (p.Ala20Val) c.329C>T (p.Ala110Val) c.620C>T (p.Ala207Val) | |
| 5 | g.161334775G>C | CA362171514 | GABRB2 | c.809C>G (p.Ala270Gly) n.891C>G c.*268C>G (n.*268C>G) c.557C>G (p.Ala186Gly) c.59C>G (p.Ala20Gly) c.329C>G (p.Ala110Gly) c.620C>G (p.Ala207Gly) | |
| 5 | g.161334775G>T | CA362171513 | GABRB2 | c.809C>A (p.Ala270Asp) n.891C>A c.*268C>A (n.*268C>A) c.557C>A (p.Ala186Asp) c.59C>A (p.Ala20Asp) c.329C>A (p.Ala110Asp) c.620C>A (p.Ala207Asp) | |
| 5 | g.161334776C>A | CA362171515 | GABRB2 | c.808G>T (p.Ala270Ser) n.890G>T c.*267G>T (n.*267G>T) c.556G>T (p.Ala186Ser) c.58G>T (p.Ala20Ser) c.328G>T (p.Ala110Ser) c.619G>T (p.Ala207Ser) | |
| 5 | g.161334776C>G | CA362171516 | GABRB2 | c.808G>C (p.Ala270Pro) n.890G>C c.*267G>C (n.*267G>C) c.556G>C (p.Ala186Pro) c.58G>C (p.Ala20Pro) c.328G>C (p.Ala110Pro) c.619G>C (p.Ala207Pro) | |
| 5 | g.161334776C>T | CA362171517 | GABRB2 | c.808G>A (p.Ala270Thr) n.890G>A c.*267G>A (n.*267G>A) c.556G>A (p.Ala186Thr) c.58G>A (p.Ala20Thr) c.328G>A (p.Ala110Thr) c.619G>A (p.Ala207Thr) | |
| 5 | g.161334777A= | CA1595985505 | GABRB2 | c.807T= (p.Asp269=) n.889T= c.*266T= (n.*266T=) c.555T= (p.Asp185=) c.57T= (p.Asp19=) c.327T= (p.Asp109=) c.618T= (p.Asp206=) | |
| 5 | g.161334777A>C | CA362171518 | GABRB2 | c.807T>G (p.Asp269Glu) n.889T>G c.*266T>G (n.*266T>G) c.555T>G (p.Asp185Glu) c.57T>G (p.Asp19Glu) c.327T>G (p.Asp109Glu) c.618T>G (p.Asp206Glu) | |
| 5 | g.161334777A>G | CA3543477 | GABRB2 | c.807T>C (p.Asp269=) n.889T>C c.*266T>C (n.*266T>C) c.555T>C (p.Asp185=) c.57T>C (p.Asp19=) c.327T>C (p.Asp109=) c.618T>C (p.Asp206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161334777A>T | CA362171519 | GABRB2 | c.807T>A (p.Asp269Glu) n.889T>A c.*266T>A (n.*266T>A) c.555T>A (p.Asp185Glu) c.57T>A (p.Asp19Glu) c.327T>A (p.Asp109Glu) c.618T>A (p.Asp206Glu) | |
| 5 | g.161334778T>A | CA362171520 | GABRB2 | c.806A>T (p.Asp269Val) n.888A>T c.*265A>T (n.*265A>T) c.554A>T (p.Asp185Val) c.56A>T (p.Asp19Val) c.326A>T (p.Asp109Val) c.617A>T (p.Asp206Val) | |
| 5 | g.161334778T>C | CA362171521 | GABRB2 | c.806A>G (p.Asp269Gly) n.888A>G c.*265A>G (n.*265A>G) c.554A>G (p.Asp185Gly) c.56A>G (p.Asp19Gly) c.326A>G (p.Asp109Gly) c.617A>G (p.Asp206Gly) | |
| 5 | g.161334778T>G | CA362171522 | GABRB2 | c.806A>C (p.Asp269Ala) n.888A>C c.*265A>C (n.*265A>C) c.554A>C (p.Asp185Ala) c.56A>C (p.Asp19Ala) c.326A>C (p.Asp109Ala) c.617A>C (p.Asp206Ala) | |
| 5 | g.161334779C>A | CA362171523 | GABRB2 | c.805G>T (p.Asp269Tyr) n.887G>T c.*264G>T (n.*264G>T) c.553G>T (p.Asp185Tyr) c.55G>T (p.Asp19Tyr) c.325G>T (p.Asp109Tyr) c.616G>T (p.Asp206Tyr) | |
| 5 | g.161334779C= | CA1595985506 | GABRB2 | c.805G= (p.Asp269=) n.887G= c.*264G= (n.*264G=) c.553G= (p.Asp185=) c.55G= (p.Asp19=) c.325G= (p.Asp109=) c.616G= (p.Asp206=) | |
| 5 | g.161334779C>G | CA362171524 | GABRB2 | c.805G>C (p.Asp269His) n.887G>C c.*264G>C (n.*264G>C) c.553G>C (p.Asp185His) c.55G>C (p.Asp19His) c.325G>C (p.Asp109His) c.616G>C (p.Asp206His) | |
| 5 | g.161334779C>T | CA3543478 | GABRB2 | c.805G>A (p.Asp269Asn) n.887G>A c.*264G>A (n.*264G>A) c.553G>A (p.Asp185Asn) c.55G>A (p.Asp19Asn) c.325G>A (p.Asp109Asn) c.616G>A (p.Asp206Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334780G>A | CA3543479 | GABRB2 | c.804C>T (p.Tyr268=) n.886C>T c.*263C>T (n.*263C>T) c.552C>T (p.Tyr184=) c.54C>T (p.Tyr18=) c.324C>T (p.Tyr108=) c.615C>T (p.Tyr205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334780G>C | CA362171526 | GABRB2 | c.804C>G (p.Tyr268Ter) n.886C>G c.*263C>G (n.*263C>G) c.552C>G (p.Tyr184Ter) c.54C>G (p.Tyr18Ter) c.324C>G (p.Tyr108Ter) c.615C>G (p.Tyr205Ter) | |
| 5 | g.161334780G= | CA1595985507 | GABRB2 | c.804C= (p.Tyr268=) n.886C= c.*263C= (n.*263C=) c.552C= (p.Tyr184=) c.54C= (p.Tyr18=) c.324C= (p.Tyr108=) c.615C= (p.Tyr205=) | |
| 5 | g.161334780G>T | CA362171525 | GABRB2 | c.804C>A (p.Tyr268Ter) n.886C>A c.*263C>A (n.*263C>A) c.552C>A (p.Tyr184Ter) c.54C>A (p.Tyr18Ter) c.324C>A (p.Tyr108Ter) c.615C>A (p.Tyr205Ter) | |
| 5 | g.161334781T>A | CA362171528 | GABRB2 | c.803A>T (p.Tyr268Phe) n.885A>T c.*262A>T (n.*262A>T) c.551A>T (p.Tyr184Phe) c.53A>T (p.Tyr18Phe) c.323A>T (p.Tyr108Phe) c.614A>T (p.Tyr205Phe) | |
| 5 | g.161334781T>C | CA362171527 | GABRB2 | c.803A>G (p.Tyr268Cys) n.885A>G c.*262A>G (n.*262A>G) c.551A>G (p.Tyr184Cys) c.53A>G (p.Tyr18Cys) c.323A>G (p.Tyr108Cys) c.614A>G (p.Tyr205Cys) | dbSNP gnomAD v2 |
| 5 | g.161334781T>G | CA362171529 | GABRB2 | c.803A>C (p.Tyr268Ser) n.885A>C c.*262A>C (n.*262A>C) c.551A>C (p.Tyr184Ser) c.53A>C (p.Tyr18Ser) c.323A>C (p.Tyr108Ser) c.614A>C (p.Tyr205Ser) | |
| 5 | g.161334781T= | CA1595985508 | GABRB2 | c.803A= (p.Tyr268=) n.885A= c.*262A= (n.*262A=) c.551A= (p.Tyr184=) c.53A= (p.Tyr18=) c.323A= (p.Tyr108=) c.614A= (p.Tyr205=) | |
| 5 | g.161334782A>C | CA362171530 | GABRB2 | c.802T>G (p.Tyr268Asp) n.884T>G c.*261T>G (n.*261T>G) c.550T>G (p.Tyr184Asp) c.52T>G (p.Tyr18Asp) c.322T>G (p.Tyr108Asp) c.613T>G (p.Tyr205Asp) | |
| 5 | g.161334782A>G | CA362171531 | GABRB2 | c.802T>C (p.Tyr268His) n.884T>C c.*261T>C (n.*261T>C) c.550T>C (p.Tyr184His) c.52T>C (p.Tyr18His) c.322T>C (p.Tyr108His) c.613T>C (p.Tyr205His) | |
| 5 | g.161334782A>T | CA362171532 | GABRB2 | c.802T>A (p.Tyr268Asn) n.884T>A c.*261T>A (n.*261T>A) c.550T>A (p.Tyr184Asn) c.52T>A (p.Tyr18Asn) c.322T>A (p.Tyr108Asn) c.613T>A (p.Tyr205Asn) | |
| 5 | g.161334783A>C | CA362171533 | GABRB2 | c.801T>G (p.Asn267Lys) n.883T>G c.*260T>G (n.*260T>G) c.549T>G (p.Asn183Lys) c.51T>G (p.Asn17Lys) c.321T>G (p.Asn107Lys) c.612T>G (p.Asn204Lys) | |
| 5 | g.161334783A>G | CA447604086 | GABRB2 | c.801T>C (p.Asn267=) n.883T>C c.*260T>C (n.*260T>C) c.549T>C (p.Asn183=) c.51T>C (p.Asn17=) c.321T>C (p.Asn107=) c.612T>C (p.Asn204=) | gnomAD v4 |
| 5 | g.161334783A>T | CA362171534 | GABRB2 | c.801T>A (p.Asn267Lys) n.883T>A c.*260T>A (n.*260T>A) c.549T>A (p.Asn183Lys) c.51T>A (p.Asn17Lys) c.321T>A (p.Asn107Lys) c.612T>A (p.Asn204Lys) | |
| 5 | g.161334784T>A | CA362171535 | GABRB2 | c.800A>T (p.Asn267Ile) n.882A>T c.*259A>T (n.*259A>T) c.548A>T (p.Asn183Ile) c.50A>T (p.Asn17Ile) c.320A>T (p.Asn107Ile) c.611A>T (p.Asn204Ile) | |
| 5 | g.161334784T>C | CA362171536 | GABRB2 | c.800A>G (p.Asn267Ser) n.882A>G c.*259A>G (n.*259A>G) c.548A>G (p.Asn183Ser) c.50A>G (p.Asn17Ser) c.320A>G (p.Asn107Ser) c.611A>G (p.Asn204Ser) | |
| 5 | g.161334784T>G | CA362171537 | GABRB2 | c.800A>C (p.Asn267Thr) n.882A>C c.*259A>C (n.*259A>C) c.548A>C (p.Asn183Thr) c.50A>C (p.Asn17Thr) c.320A>C (p.Asn107Thr) c.611A>C (p.Asn204Thr) | |
| 5 | g.161334785T>A | CA362171538 | GABRB2 | c.799A>T (p.Asn267Tyr) n.881A>T c.*258A>T (n.*258A>T) c.547A>T (p.Asn183Tyr) c.49A>T (p.Asn17Tyr) c.319A>T (p.Asn107Tyr) c.610A>T (p.Asn204Tyr) | |
| 5 | g.161334785T>C | CA362171539 | GABRB2 | c.799A>G (p.Asn267Asp) n.881A>G c.*258A>G (n.*258A>G) c.547A>G (p.Asn183Asp) c.49A>G (p.Asn17Asp) c.319A>G (p.Asn107Asp) c.610A>G (p.Asn204Asp) | |
| 5 | g.161334785T>G | CA362171540 | GABRB2 | c.799A>C (p.Asn267His) n.881A>C c.*258A>C (n.*258A>C) c.547A>C (p.Asn183His) c.49A>C (p.Asn17His) c.319A>C (p.Asn107His) c.610A>C (p.Asn204His) | |
| 5 | g.161334786A>C | CA362171541 | GABRB2 | c.798T>G (p.Ile266Met) n.880T>G c.*257T>G (n.*257T>G) c.546T>G (p.Ile182Met) c.48T>G (p.Ile16Met) c.318T>G (p.Ile106Met) c.609T>G (p.Ile203Met) | ClinVar |
| 5 | g.161334786A>G | CA447604087 | GABRB2 | c.798T>C (p.Ile266=) n.880T>C c.*257T>C (n.*257T>C) c.546T>C (p.Ile182=) c.48T>C (p.Ile16=) c.318T>C (p.Ile106=) c.609T>C (p.Ile203=) | |
| 5 | g.161334786A>T | CA447604088 | GABRB2 | c.798T>A (p.Ile266=) n.880T>A c.*257T>A (n.*257T>A) c.546T>A (p.Ile182=) c.48T>A (p.Ile16=) c.318T>A (p.Ile106=) c.609T>A (p.Ile203=) | |
| 5 | g.161334787A>C | CA362171544 | GABRB2 | c.797T>G (p.Ile266Ser) n.879T>G c.*256T>G (n.*256T>G) c.545T>G (p.Ile182Ser) c.47T>G (p.Ile16Ser) c.317T>G (p.Ile106Ser) c.608T>G (p.Ile203Ser) | |
| 5 | g.161334787A>G | CA362171543 | GABRB2 | c.797T>C (p.Ile266Thr) n.879T>C c.*256T>C (n.*256T>C) c.545T>C (p.Ile182Thr) c.47T>C (p.Ile16Thr) c.317T>C (p.Ile106Thr) c.608T>C (p.Ile203Thr) | |
| 5 | g.161334787A>T | CA362171542 | GABRB2 | c.797T>A (p.Ile266Asn) n.879T>A c.*256T>A (n.*256T>A) c.545T>A (p.Ile182Asn) c.47T>A (p.Ile16Asn) c.317T>A (p.Ile106Asn) c.608T>A (p.Ile203Asn) | |
| 5 | g.161334788T>A | CA362171545 | GABRB2 | c.796A>T (p.Ile266Phe) n.878A>T c.*255A>T (n.*255A>T) c.544A>T (p.Ile182Phe) c.46A>T (p.Ile16Phe) c.316A>T (p.Ile106Phe) c.607A>T (p.Ile203Phe) | |
| 5 | g.161334788T>C | CA362171546 | GABRB2 | c.796A>G (p.Ile266Val) n.878A>G c.*255A>G (n.*255A>G) c.544A>G (p.Ile182Val) c.46A>G (p.Ile16Val) c.316A>G (p.Ile106Val) c.607A>G (p.Ile203Val) | gnomAD v4 |
| 5 | g.161334788T>G | CA362171547 | GABRB2 | c.796A>C (p.Ile266Leu) n.878A>C c.*255A>C (n.*255A>C) c.544A>C (p.Ile182Leu) c.46A>C (p.Ile16Leu) c.316A>C (p.Ile106Leu) c.607A>C (p.Ile203Leu) | |
| 5 | g.161334789C>A | CA362171548 | GABRB2 | c.795G>T (p.Trp265Cys) n.877G>T c.*254G>T (n.*254G>T) c.543G>T (p.Trp181Cys) c.45G>T (p.Trp15Cys) c.315G>T (p.Trp105Cys) c.606G>T (p.Trp202Cys) | |
| 5 | g.161334789C>G | CA362171549 | GABRB2 | c.795G>C (p.Trp265Cys) n.877G>C c.*254G>C (n.*254G>C) c.543G>C (p.Trp181Cys) c.45G>C (p.Trp15Cys) c.315G>C (p.Trp105Cys) c.606G>C (p.Trp202Cys) | |
| 5 | g.161334789C>T | CA362171550 | GABRB2 | c.795G>A (p.Trp265Ter) n.877G>A c.*254G>A (n.*254G>A) c.543G>A (p.Trp181Ter) c.45G>A (p.Trp15Ter) c.315G>A (p.Trp105Ter) c.606G>A (p.Trp202Ter) | dbSNP |
| 5 | g.161334790C>A | CA362171551 | GABRB2 | c.794G>T (p.Trp265Leu) n.876G>T c.*253G>T (n.*253G>T) c.542G>T (p.Trp181Leu) c.44G>T (p.Trp15Leu) c.314G>T (p.Trp105Leu) c.605G>T (p.Trp202Leu) | |
| 5 | g.161334790C>G | CA362171552 | GABRB2 | c.794G>C (p.Trp265Ser) n.876G>C c.*253G>C (n.*253G>C) c.542G>C (p.Trp181Ser) c.44G>C (p.Trp15Ser) c.314G>C (p.Trp105Ser) c.605G>C (p.Trp202Ser) | |
| 5 | g.161334790C>T | CA362171553 | GABRB2 | c.794G>A (p.Trp265Ter) n.876G>A c.*253G>A (n.*253G>A) c.542G>A (p.Trp181Ter) c.44G>A (p.Trp15Ter) c.314G>A (p.Trp105Ter) c.605G>A (p.Trp202Ter) | |
| 5 | g.161334790_161334793delinsCAGA | CA1595985509 | GABRB2 | c.791_794delinsTCTG (p.Phe264=) n.873_876delinsTCTG c.*250_*253delinsTCTG (n.*250_*253delinsTCTG) c.539_542delinsTCTG (p.Phe180=) c.41_44delinsTCTG (p.Phe14=) c.311_314delinsTCTG (p.Phe104=) c.602_605delinsTCTG (p.Phe201=) | |
| 5 | g.161334791A>C | CA362171554 | GABRB2 | c.793T>G (p.Trp265Gly) n.875T>G c.*252T>G (n.*252T>G) c.541T>G (p.Trp181Gly) c.43T>G (p.Trp15Gly) c.313T>G (p.Trp105Gly) c.604T>G (p.Trp202Gly) | |
| 5 | g.161334791A>G | CA362171555 | GABRB2 | c.793T>C (p.Trp265Arg) n.875T>C c.*252T>C (n.*252T>C) c.541T>C (p.Trp181Arg) c.43T>C (p.Trp15Arg) c.313T>C (p.Trp105Arg) c.604T>C (p.Trp202Arg) | |
| 5 | g.161334791A>T | CA362171556 | GABRB2 | c.793T>A (p.Trp265Arg) n.875T>A c.*252T>A (n.*252T>A) c.541T>A (p.Trp181Arg) c.43T>A (p.Trp15Arg) c.313T>A (p.Trp105Arg) c.604T>A (p.Trp202Arg) | |
| 5 | g.161334793_161334795del | CA3543480 | GABRB2 | c.791_793del (p.Phe264del) n.873_875del c.*250_*252del (n.*250_*252del) c.539_541del (p.Phe180del) c.41_43del (p.Phe14del) c.311_313del (p.Phe104del) c.602_604del (p.Phe201del) | dbSNP ExAC gnomAD v2 |
| 5 | g.161334792G>A | CA447604090 | GABRB2 | c.792C>T (p.Phe264=) n.874C>T c.*251C>T (n.*251C>T) c.540C>T (p.Phe180=) c.42C>T (p.Phe14=) c.312C>T (p.Phe104=) c.603C>T (p.Phe201=) | |
| 5 | g.161334792G>C | CA362171557 | GABRB2 | c.792C>G (p.Phe264Leu) n.874C>G c.*251C>G (n.*251C>G) c.540C>G (p.Phe180Leu) c.42C>G (p.Phe14Leu) c.312C>G (p.Phe104Leu) c.603C>G (p.Phe201Leu) | |
| 5 | g.161334792G>T | CA362171558 | GABRB2 | c.792C>A (p.Phe264Leu) n.874C>A c.*251C>A (n.*251C>A) c.540C>A (p.Phe180Leu) c.42C>A (p.Phe14Leu) c.312C>A (p.Phe104Leu) c.603C>A (p.Phe201Leu) | |
| 5 | g.161334793A>C | CA362171559 | GABRB2 | c.791T>G (p.Phe264Cys) n.873T>G c.*250T>G (n.*250T>G) c.539T>G (p.Phe180Cys) c.41T>G (p.Phe14Cys) c.311T>G (p.Phe104Cys) c.602T>G (p.Phe201Cys) | |
| 5 | g.161334793A>G | CA362171560 | GABRB2 | c.791T>C (p.Phe264Ser) n.873T>C c.*250T>C (n.*250T>C) c.539T>C (p.Phe180Ser) c.41T>C (p.Phe14Ser) c.311T>C (p.Phe104Ser) c.602T>C (p.Phe201Ser) | |
| 5 | g.161334793A>T | CA362171561 | GABRB2 | c.791T>A (p.Phe264Tyr) n.873T>A c.*250T>A (n.*250T>A) c.539T>A (p.Phe180Tyr) c.41T>A (p.Phe14Tyr) c.311T>A (p.Phe104Tyr) c.602T>A (p.Phe201Tyr) | |
| 5 | g.161334794A>C | CA362171562 | GABRB2 | c.790T>G (p.Phe264Val) n.872T>G c.*249T>G (n.*249T>G) c.538T>G (p.Phe180Val) c.40T>G (p.Phe14Val) c.310T>G (p.Phe104Val) c.601T>G (p.Phe201Val) | |
| 5 | g.161334794A>G | CA362171563 | GABRB2 | c.790T>C (p.Phe264Leu) n.872T>C c.*249T>C (n.*249T>C) c.538T>C (p.Phe180Leu) c.40T>C (p.Phe14Leu) c.310T>C (p.Phe104Leu) c.601T>C (p.Phe201Leu) | |
| 5 | g.161334794A>T | CA362171564 | GABRB2 | c.790T>A (p.Phe264Ile) n.872T>A c.*249T>A (n.*249T>A) c.538T>A (p.Phe180Ile) c.40T>A (p.Phe14Ile) c.310T>A (p.Phe104Ile) c.601T>A (p.Phe201Ile) | |
| 5 | g.161334795G>A | CA447604091 | GABRB2 | c.789C>T (p.Ser263=) n.871C>T c.*248C>T (n.*248C>T) c.537C>T (p.Ser179=) c.39C>T (p.Ser13=) c.309C>T (p.Ser103=) c.600C>T (p.Ser200=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334795G>C | CA447604092 | GABRB2 | c.789C>G (p.Ser263=) n.871C>G c.*248C>G (n.*248C>G) c.537C>G (p.Ser179=) c.39C>G (p.Ser13=) c.309C>G (p.Ser103=) c.600C>G (p.Ser200=) | |
| 5 | g.161334795G= | CA1595985510 | GABRB2 | c.789C= (p.Ser263=) n.871C= c.*248C= (n.*248C=) c.537C= (p.Ser179=) c.39C= (p.Ser13=) c.309C= (p.Ser103=) c.600C= (p.Ser200=) | |
| 5 | g.161334795G>T | CA3543481 | GABRB2 | c.789C>A (p.Ser263=) n.871C>A c.*248C>A (n.*248C>A) c.537C>A (p.Ser179=) c.39C>A (p.Ser13=) c.309C>A (p.Ser103=) c.600C>A (p.Ser200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161334796G>A | CA362171565 | GABRB2 | c.788C>T (p.Ser263Phe) n.870C>T c.*247C>T (n.*247C>T) c.536C>T (p.Ser179Phe) c.38C>T (p.Ser13Phe) c.308C>T (p.Ser103Phe) c.599C>T (p.Ser200Phe) | |
| 5 | g.161334796G>C | CA362171566 | GABRB2 | c.788C>G (p.Ser263Cys) n.870C>G c.*247C>G (n.*247C>G) c.536C>G (p.Ser179Cys) c.38C>G (p.Ser13Cys) c.308C>G (p.Ser103Cys) c.599C>G (p.Ser200Cys) | |
| 5 | g.161334796G>T | CA362171567 | GABRB2 | c.788C>A (p.Ser263Tyr) n.870C>A c.*247C>A (n.*247C>A) c.536C>A (p.Ser179Tyr) c.38C>A (p.Ser13Tyr) c.308C>A (p.Ser103Tyr) c.599C>A (p.Ser200Tyr) | |
| 5 | g.161334797A>C | CA362171568 | GABRB2 | c.787T>G (p.Ser263Ala) n.869T>G c.*246T>G (n.*246T>G) c.535T>G (p.Ser179Ala) c.37T>G (p.Ser13Ala) c.307T>G (p.Ser103Ala) c.598T>G (p.Ser200Ala) | |
| 5 | g.161334797A>G | CA362171569 | GABRB2 | c.787T>C (p.Ser263Pro) n.869T>C c.*246T>C (n.*246T>C) c.535T>C (p.Ser179Pro) c.37T>C (p.Ser13Pro) c.307T>C (p.Ser103Pro) c.598T>C (p.Ser200Pro) | |
| 5 | g.161334797A>T | CA362171570 | GABRB2 | c.787T>A (p.Ser263Thr) n.869T>A c.*246T>A (n.*246T>A) c.535T>A (p.Ser179Thr) c.37T>A (p.Ser13Thr) c.307T>A (p.Ser103Thr) c.598T>A (p.Ser200Thr) | |
| 5 | g.161334798G>A | CA447604093 | GABRB2 | c.786C>T (p.Val262=) n.868C>T c.*245C>T (n.*245C>T) c.534C>T (p.Val178=) c.36C>T (p.Val12=) c.306C>T (p.Val102=) c.597C>T (p.Val199=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334798G>C | CA447604094 | GABRB2 | c.786C>G (p.Val262=) n.868C>G c.*245C>G (n.*245C>G) c.534C>G (p.Val178=) c.36C>G (p.Val12=) c.306C>G (p.Val102=) c.597C>G (p.Val199=) | |
| 5 | g.161334798G= | CA1595985511 | GABRB2 | c.786C= (p.Val262=) n.868C= c.*245C= (n.*245C=) c.534C= (p.Val178=) c.36C= (p.Val12=) c.306C= (p.Val102=) c.597C= (p.Val199=) | |
| 5 | g.161334798G>T | CA447604095 | GABRB2 | c.786C>A (p.Val262=) n.868C>A c.*245C>A (n.*245C>A) c.534C>A (p.Val178=) c.36C>A (p.Val12=) c.306C>A (p.Val102=) c.597C>A (p.Val199=) | gnomAD v4 |
| 5 | g.161334799A>C | CA362171573 | GABRB2 | c.785T>G (p.Val262Gly) n.867T>G c.*244T>G (n.*244T>G) c.533T>G (p.Val178Gly) c.35T>G (p.Val12Gly) c.305T>G (p.Val102Gly) c.596T>G (p.Val199Gly) | |
| 5 | g.161334799A>G | CA362171571 | GABRB2 | c.785T>C (p.Val262Ala) n.867T>C c.*244T>C (n.*244T>C) c.533T>C (p.Val178Ala) c.35T>C (p.Val12Ala) c.305T>C (p.Val102Ala) c.596T>C (p.Val199Ala) | |
| 5 | g.161334799A>T | CA362171572 | GABRB2 | c.785T>A (p.Val262Asp) n.867T>A c.*244T>A (n.*244T>A) c.533T>A (p.Val178Asp) c.35T>A (p.Val12Asp) c.305T>A (p.Val102Asp) c.596T>A (p.Val199Asp) | |
| 5 | g.161334800C>A | CA362171574 | GABRB2 | c.784G>T (p.Val262Phe) n.866G>T c.*243G>T (n.*243G>T) c.532G>T (p.Val178Phe) c.34G>T (p.Val12Phe) c.304G>T (p.Val102Phe) c.595G>T (p.Val199Phe) | |
| 5 | g.161334800C>G | CA362171575 | GABRB2 | c.784G>C (p.Val262Leu) n.866G>C c.*243G>C (n.*243G>C) c.532G>C (p.Val178Leu) c.34G>C (p.Val12Leu) c.304G>C (p.Val102Leu) c.595G>C (p.Val199Leu) | |
| 5 | g.161334800C>T | CA362171576 | GABRB2 | c.784G>A (p.Val262Ile) n.866G>A c.*243G>A (n.*243G>A) c.532G>A (p.Val178Ile) c.34G>A (p.Val12Ile) c.304G>A (p.Val102Ile) c.595G>A (p.Val199Ile) | |
| 5 | g.161334801C>A | CA362171577 | GABRB2 | c.783G>T (p.Trp261Cys) n.865G>T c.*242G>T (n.*242G>T) c.531G>T (p.Trp177Cys) c.33G>T (p.Trp11Cys) c.303G>T (p.Trp101Cys) c.594G>T (p.Trp198Cys) | |
| 5 | g.161334801C= | CA1595985512 | GABRB2 | c.783G= (p.Trp261=) n.865G= c.*242G= (n.*242G=) c.531G= (p.Trp177=) c.33G= (p.Trp11=) c.303G= (p.Trp101=) c.594G= (p.Trp198=) | |
| 5 | g.161334801C>G | CA362171578 | GABRB2 | c.783G>C (p.Trp261Cys) n.865G>C c.*242G>C (n.*242G>C) c.531G>C (p.Trp177Cys) c.33G>C (p.Trp11Cys) c.303G>C (p.Trp101Cys) c.594G>C (p.Trp198Cys) | |
| 5 | g.161334801C>T | CA131020425 | GABRB2 | c.783G>A (p.Trp261Ter) n.865G>A c.*242G>A (n.*242G>A) c.531G>A (p.Trp177Ter) c.33G>A (p.Trp11Ter) c.303G>A (p.Trp101Ter) c.594G>A (p.Trp198Ter) | dbSNP |
| 5 | g.161334802C>A | CA362171579 | GABRB2 | c.782G>T (p.Trp261Leu) n.864G>T c.*241G>T (n.*241G>T) c.530G>T (p.Trp177Leu) c.32G>T (p.Trp11Leu) c.302G>T (p.Trp101Leu) c.593G>T (p.Trp198Leu) | |
| 5 | g.161334802C>G | CA362171580 | GABRB2 | c.782G>C (p.Trp261Ser) n.864G>C c.*241G>C (n.*241G>C) c.530G>C (p.Trp177Ser) c.32G>C (p.Trp11Ser) c.302G>C (p.Trp101Ser) c.593G>C (p.Trp198Ser) | |
| 5 | g.161334802C>T | CA362171581 | GABRB2 | c.782G>A (p.Trp261Ter) n.864G>A c.*241G>A (n.*241G>A) c.530G>A (p.Trp177Ter) c.32G>A (p.Trp11Ter) c.302G>A (p.Trp101Ter) c.593G>A (p.Trp198Ter) | |
| 5 | g.161334803A>C | CA362171582 | GABRB2 | c.781T>G (p.Trp261Gly) n.863T>G c.*240T>G (n.*240T>G) c.529T>G (p.Trp177Gly) c.31T>G (p.Trp11Gly) c.301T>G (p.Trp101Gly) c.592T>G (p.Trp198Gly) | |
| 5 | g.161334803A>G | CA362171583 | GABRB2 | c.781T>C (p.Trp261Arg) n.863T>C c.*240T>C (n.*240T>C) c.529T>C (p.Trp177Arg) c.31T>C (p.Trp11Arg) c.301T>C (p.Trp101Arg) c.592T>C (p.Trp198Arg) | |
| 5 | g.161334803A>T | CA362171584 | GABRB2 | c.781T>A (p.Trp261Arg) n.863T>A c.*240T>A (n.*240T>A) c.529T>A (p.Trp177Arg) c.31T>A (p.Trp11Arg) c.301T>A (p.Trp101Arg) c.592T>A (p.Trp198Arg) | |
| 5 | g.161334804G>A | CA447604097 | GABRB2 | c.780C>T (p.Ser260=) n.862C>T c.*239C>T (n.*239C>T) c.528C>T (p.Ser176=) c.30C>T (p.Ser10=) c.300C>T (p.Ser100=) c.591C>T (p.Ser197=) | COSMIC COSMIC |
| 5 | g.161334804G>C | CA447604098 | GABRB2 | c.780C>G (p.Ser260=) n.862C>G c.*239C>G (n.*239C>G) c.528C>G (p.Ser176=) c.30C>G (p.Ser10=) c.300C>G (p.Ser100=) c.591C>G (p.Ser197=) | ClinVar dbSNP |
| 5 | g.161334804G= | CA1595985513 | GABRB2 | c.780C= (p.Ser260=) n.862C= c.*239C= (n.*239C=) c.528C= (p.Ser176=) c.30C= (p.Ser10=) c.300C= (p.Ser100=) c.591C= (p.Ser197=) | |
| 5 | g.161334804G>T | CA447604099 | GABRB2 | c.780C>A (p.Ser260=) n.862C>A c.*239C>A (n.*239C>A) c.528C>A (p.Ser176=) c.30C>A (p.Ser10=) c.300C>A (p.Ser100=) c.591C>A (p.Ser197=) | ClinVar dbSNP |
| 5 | g.161334805G>A | CA362171587 | GABRB2 | c.779C>T (p.Ser260Phe) n.861C>T c.*238C>T (n.*238C>T) c.527C>T (p.Ser176Phe) c.29C>T (p.Ser10Phe) c.299C>T (p.Ser100Phe) c.590C>T (p.Ser197Phe) | |
| 5 | g.161334805G>C | CA362171586 | GABRB2 | c.779C>G (p.Ser260Cys) n.861C>G c.*238C>G (n.*238C>G) c.527C>G (p.Ser176Cys) c.29C>G (p.Ser10Cys) c.299C>G (p.Ser100Cys) c.590C>G (p.Ser197Cys) | |
| 5 | g.161334805G>T | CA362171585 | GABRB2 | c.779C>A (p.Ser260Tyr) n.861C>A c.*238C>A (n.*238C>A) c.527C>A (p.Ser176Tyr) c.29C>A (p.Ser10Tyr) c.299C>A (p.Ser100Tyr) c.590C>A (p.Ser197Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161334806A>C | CA362171588 | GABRB2 | c.778T>G (p.Ser260Ala) n.860T>G c.*237T>G (n.*237T>G) c.526T>G (p.Ser176Ala) c.28T>G (p.Ser10Ala) c.298T>G (p.Ser100Ala) c.589T>G (p.Ser197Ala) | |
| 5 | g.161334806A>G | CA362171590 | GABRB2 | c.778T>C (p.Ser260Pro) n.860T>C c.*237T>C (n.*237T>C) c.526T>C (p.Ser176Pro) c.28T>C (p.Ser10Pro) c.298T>C (p.Ser100Pro) c.589T>C (p.Ser197Pro) | |
| 5 | g.161334806A>T | CA362171589 | GABRB2 | c.778T>A (p.Ser260Thr) n.860T>A c.*237T>A (n.*237T>A) c.526T>A (p.Ser176Thr) c.28T>A (p.Ser10Thr) c.298T>A (p.Ser100Thr) c.589T>A (p.Ser197Thr) | |
| 5 | g.161334807G>A | CA447604100 | GABRB2 | c.777C>T (p.Leu259=) n.859C>T c.*236C>T (n.*236C>T) c.525C>T (p.Leu175=) c.27C>T (p.Leu9=) c.297C>T (p.Leu99=) c.588C>T (p.Leu196=) | |
| 5 | g.161334807G>C | CA447604101 | GABRB2 | c.777C>G (p.Leu259=) n.859C>G c.*236C>G (n.*236C>G) c.525C>G (p.Leu175=) c.27C>G (p.Leu9=) c.297C>G (p.Leu99=) c.588C>G (p.Leu196=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161334807G= | CA1595985514 | GABRB2 | c.777C= (p.Leu259=) n.859C= c.*236C= (n.*236C=) c.525C= (p.Leu175=) c.27C= (p.Leu9=) c.297C= (p.Leu99=) c.588C= (p.Leu196=) | |
| 5 | g.161334807G>T | CA447604102 | GABRB2 | c.777C>A (p.Leu259=) n.859C>A c.*236C>A (n.*236C>A) c.525C>A (p.Leu175=) c.27C>A (p.Leu9=) c.297C>A (p.Leu99=) c.588C>A (p.Leu196=) | |
| 5 | g.161334808A>C | CA362171591 | GABRB2 | c.776T>G (p.Leu259Arg) n.858T>G c.*235T>G (n.*235T>G) c.524T>G (p.Leu175Arg) c.26T>G (p.Leu9Arg) c.296T>G (p.Leu99Arg) c.587T>G (p.Leu196Arg) | |
| 5 | g.161334808A>G | CA362171592 | GABRB2 | c.776T>C (p.Leu259Pro) n.858T>C c.*235T>C (n.*235T>C) c.524T>C (p.Leu175Pro) c.26T>C (p.Leu9Pro) c.296T>C (p.Leu99Pro) c.587T>C (p.Leu196Pro) | |
| 5 | g.161334808A>T | CA362171593 | GABRB2 | c.776T>A (p.Leu259His) n.858T>A c.*235T>A (n.*235T>A) c.524T>A (p.Leu175His) c.26T>A (p.Leu9His) c.296T>A (p.Leu99His) c.587T>A (p.Leu196His) | |
| 5 | g.161334809G>A | CA362171594 | GABRB2 | c.775C>T (p.Leu259Phe) n.857C>T c.*234C>T (n.*234C>T) c.523C>T (p.Leu175Phe) c.25C>T (p.Leu9Phe) c.295C>T (p.Leu99Phe) c.586C>T (p.Leu196Phe) | ClinVar |
| 5 | g.161334809G>C | CA362171595 | GABRB2 | c.775C>G (p.Leu259Val) n.857C>G c.*234C>G (n.*234C>G) c.523C>G (p.Leu175Val) c.25C>G (p.Leu9Val) c.295C>G (p.Leu99Val) c.586C>G (p.Leu196Val) | |
| 5 | g.161334809G>T | CA362171596 | GABRB2 | c.775C>A (p.Leu259Ile) n.857C>A c.*234C>A (n.*234C>A) c.523C>A (p.Leu175Ile) c.25C>A (p.Leu9Ile) c.295C>A (p.Leu99Ile) c.586C>A (p.Leu196Ile) | |
| 5 | g.161334810G>A | CA447604103 | GABRB2 | c.774C>T (p.Ile258=) n.856C>T c.*233C>T (n.*233C>T) c.522C>T (p.Ile174=) c.24C>T (p.Ile8=) c.294C>T (p.Ile98=) c.585C>T (p.Ile195=) | |
| 5 | g.161334810G>C | CA362171597 | GABRB2 | c.774C>G (p.Ile258Met) n.856C>G c.*233C>G (n.*233C>G) c.522C>G (p.Ile174Met) c.24C>G (p.Ile8Met) c.294C>G (p.Ile98Met) c.585C>G (p.Ile195Met) | |
| 5 | g.161334810G>T | CA447604104 | GABRB2 | c.774C>A (p.Ile258=) n.856C>A c.*233C>A (n.*233C>A) c.522C>A (p.Ile174=) c.24C>A (p.Ile8=) c.294C>A (p.Ile98=) c.585C>A (p.Ile195=) | |
| 5 | g.161334811A>C | CA362171598 | GABRB2 | c.773T>G (p.Ile258Ser) n.855T>G c.*232T>G (n.*232T>G) c.521T>G (p.Ile174Ser) c.23T>G (p.Ile8Ser) c.293T>G (p.Ile98Ser) c.584T>G (p.Ile195Ser) | |
| 5 | g.161334811A>G | CA362171599 | GABRB2 | c.773T>C (p.Ile258Thr) n.855T>C c.*232T>C (n.*232T>C) c.521T>C (p.Ile174Thr) c.23T>C (p.Ile8Thr) c.293T>C (p.Ile98Thr) c.584T>C (p.Ile195Thr) | |
| 5 | g.161334811A>T | CA362171600 | GABRB2 | c.773T>A (p.Ile258Asn) n.855T>A c.*232T>A (n.*232T>A) c.521T>A (p.Ile174Asn) c.23T>A (p.Ile8Asn) c.293T>A (p.Ile98Asn) c.584T>A (p.Ile195Asn) | |
| 5 | g.161334812T>A | CA362171601 | GABRB2 | c.772A>T (p.Ile258Phe) n.854A>T c.*231A>T (n.*231A>T) c.520A>T (p.Ile174Phe) c.22A>T (p.Ile8Phe) c.292A>T (p.Ile98Phe) c.583A>T (p.Ile195Phe) | |
| 5 | g.161334812T>C | CA362171602 | GABRB2 | c.772A>G (p.Ile258Val) n.854A>G c.*231A>G (n.*231A>G) c.520A>G (p.Ile174Val) c.22A>G (p.Ile8Val) c.292A>G (p.Ile98Val) c.583A>G (p.Ile195Val) | |
| 5 | g.161334812T>G | CA362171603 | GABRB2 | c.772A>C (p.Ile258Leu) n.854A>C c.*231A>C (n.*231A>C) c.520A>C (p.Ile174Leu) c.22A>C (p.Ile8Leu) c.292A>C (p.Ile98Leu) c.583A>C (p.Ile195Leu) | |
| 5 | g.161334813G>A | CA447604107 | GABRB2 | c.771C>T (p.Thr257=) n.853C>T c.*230C>T (n.*230C>T) c.519C>T (p.Thr173=) c.21C>T (p.Thr7=) c.291C>T (p.Thr97=) c.582C>T (p.Thr194=) | |
| 5 | g.161334813G>C | CA447604106 | GABRB2 | c.771C>G (p.Thr257=) n.853C>G c.*230C>G (n.*230C>G) c.519C>G (p.Thr173=) c.21C>G (p.Thr7=) c.291C>G (p.Thr97=) c.582C>G (p.Thr194=) | gnomAD v4 |
| 5 | g.161334813G>T | CA447604105 | GABRB2 | c.771C>A (p.Thr257=) n.853C>A c.*230C>A (n.*230C>A) c.519C>A (p.Thr173=) c.21C>A (p.Thr7=) c.291C>A (p.Thr97=) c.582C>A (p.Thr194=) | |
| 5 | g.161334814G>A | CA362171604 | GABRB2 | c.770C>T (p.Thr257Ile) n.852C>T c.*229C>T (n.*229C>T) c.518C>T (p.Thr173Ile) c.20C>T (p.Thr7Ile) c.290C>T (p.Thr97Ile) c.581C>T (p.Thr194Ile) | |
| 5 | g.161334814G>C | CA362171606 | GABRB2 | c.770C>G (p.Thr257Ser) n.852C>G c.*229C>G (n.*229C>G) c.518C>G (p.Thr173Ser) c.20C>G (p.Thr7Ser) c.290C>G (p.Thr97Ser) c.581C>G (p.Thr194Ser) | |
| 5 | g.161334814G>T | CA362171605 | GABRB2 | c.770C>A (p.Thr257Asn) n.852C>A c.*229C>A (n.*229C>A) c.518C>A (p.Thr173Asn) c.20C>A (p.Thr7Asn) c.290C>A (p.Thr97Asn) c.581C>A (p.Thr194Asn) | |
| 5 | g.161334815T>A | CA362171607 | GABRB2 | c.769A>T (p.Thr257Ser) n.851A>T c.*228A>T (n.*228A>T) c.517A>T (p.Thr173Ser) c.19A>T (p.Thr7Ser) c.289A>T (p.Thr97Ser) c.580A>T (p.Thr194Ser) | |
| 5 | g.161334815T>C | CA362171608 | GABRB2 | c.769A>G (p.Thr257Ala) n.851A>G c.*228A>G (n.*228A>G) c.517A>G (p.Thr173Ala) c.19A>G (p.Thr7Ala) c.289A>G (p.Thr97Ala) c.580A>G (p.Thr194Ala) | |
| 5 | g.161334815T>G | CA362171609 | GABRB2 | c.769A>C (p.Thr257Pro) n.851A>C c.*228A>C (n.*228A>C) c.517A>C (p.Thr173Pro) c.19A>C (p.Thr7Pro) c.289A>C (p.Thr97Pro) c.580A>C (p.Thr194Pro) | |
| 5 | g.161334816A>C | CA362171610 | GABRB2 | c.768T>G (p.Ile256Met) n.850T>G c.*227T>G (n.*227T>G) c.516T>G (p.Ile172Met) c.18T>G (p.Ile6Met) c.288T>G (p.Ile96Met) c.579T>G (p.Ile193Met) | |
| 5 | g.161334816A>G | CA447604108 | GABRB2 | c.768T>C (p.Ile256=) n.850T>C c.*227T>C (n.*227T>C) c.516T>C (p.Ile172=) c.18T>C (p.Ile6=) c.288T>C (p.Ile96=) c.579T>C (p.Ile193=) | |
| 5 | g.161334816A>T | CA447604109 | GABRB2 | c.768T>A (p.Ile256=) n.850T>A c.*227T>A (n.*227T>A) c.516T>A (p.Ile172=) c.18T>A (p.Ile6=) c.288T>A (p.Ile96=) c.579T>A (p.Ile193=) | |
| 5 | g.161334817A>C | CA362171611 | GABRB2 | c.767T>G (p.Ile256Ser) n.849T>G c.*226T>G (n.*226T>G) c.515T>G (p.Ile172Ser) c.17T>G (p.Ile6Ser) c.287T>G (p.Ile96Ser) c.578T>G (p.Ile193Ser) | |
| 5 | g.161334817A>G | CA362171612 | GABRB2 | c.767T>C (p.Ile256Thr) n.849T>C c.*226T>C (n.*226T>C) c.515T>C (p.Ile172Thr) c.17T>C (p.Ile6Thr) c.287T>C (p.Ile96Thr) c.578T>C (p.Ile193Thr) | |
| 5 | g.161334817A>T | CA362171613 | GABRB2 | c.767T>A (p.Ile256Asn) n.849T>A c.*226T>A (n.*226T>A) c.515T>A (p.Ile172Asn) c.17T>A (p.Ile6Asn) c.287T>A (p.Ile96Asn) c.578T>A (p.Ile193Asn) | |
| 5 | g.161334818T>A | CA362171614 | GABRB2 | c.766A>T (p.Ile256Phe) n.848A>T c.*225A>T (n.*225A>T) c.514A>T (p.Ile172Phe) c.16A>T (p.Ile6Phe) c.286A>T (p.Ile96Phe) c.577A>T (p.Ile193Phe) | |
| 5 | g.161334818T>C | CA362171615 | GABRB2 | c.766A>G (p.Ile256Val) n.848A>G c.*225A>G (n.*225A>G) c.514A>G (p.Ile172Val) c.16A>G (p.Ile6Val) c.286A>G (p.Ile96Val) c.577A>G (p.Ile193Val) | ClinVar |
| 5 | g.161334818T>G | CA362171616 | GABRB2 | c.766A>C (p.Ile256Leu) n.848A>C c.*225A>C (n.*225A>C) c.514A>C (p.Ile172Leu) c.16A>C (p.Ile6Leu) c.286A>C (p.Ile96Leu) c.577A>C (p.Ile193Leu) | |
| 5 | g.161334819C>A | CA447604111 | GABRB2 | c.765G>T (p.Leu255=) n.847G>T c.*224G>T (n.*224G>T) c.513G>T (p.Leu171=) c.15G>T (p.Leu5=) c.285G>T (p.Leu95=) c.576G>T (p.Leu192=) | |
| 5 | g.161334819C= | CA1595985515 | GABRB2 | c.765G= (p.Leu255=) n.847G= c.*224G= (n.*224G=) c.513G= (p.Leu171=) c.15G= (p.Leu5=) c.285G= (p.Leu95=) c.576G= (p.Leu192=) | |
| 5 | g.161334819C>G | CA447604113 | GABRB2 | c.765G>C (p.Leu255=) n.847G>C c.*224G>C (n.*224G>C) c.513G>C (p.Leu171=) c.15G>C (p.Leu5=) c.285G>C (p.Leu95=) c.576G>C (p.Leu192=) | |
| 5 | g.161334819C>T | CA447604112 | GABRB2 | c.765G>A (p.Leu255=) n.847G>A c.*224G>A (n.*224G>A) c.513G>A (p.Leu171=) c.15G>A (p.Leu5=) c.285G>A (p.Leu95=) c.576G>A (p.Leu192=) | dbSNP gnomAD v4 |
| 5 | g.161334820A>C | CA362171619 | GABRB2 | c.764T>G (p.Leu255Arg) n.846T>G c.*223T>G (n.*223T>G) c.512T>G (p.Leu171Arg) c.14T>G (p.Leu5Arg) c.284T>G (p.Leu95Arg) c.575T>G (p.Leu192Arg) | |
| 5 | g.161334820A>G | CA362171618 | GABRB2 | c.764T>C (p.Leu255Pro) n.846T>C c.*223T>C (n.*223T>C) c.512T>C (p.Leu171Pro) c.14T>C (p.Leu5Pro) c.284T>C (p.Leu95Pro) c.575T>C (p.Leu192Pro) | |
| 5 | g.161334820A>T | CA362171617 | GABRB2 | c.764T>A (p.Leu255Gln) n.846T>A c.*223T>A (n.*223T>A) c.512T>A (p.Leu171Gln) c.14T>A (p.Leu5Gln) c.284T>A (p.Leu95Gln) c.575T>A (p.Leu192Gln) | |
| 5 | g.161334821G>A | CA3543482 | GABRB2 | c.763C>T (p.Leu255=) n.845C>T c.*222C>T (n.*222C>T) c.511C>T (p.Leu171=) c.13C>T (p.Leu5=) c.283C>T (p.Leu95=) c.574C>T (p.Leu192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161334821G>C | CA362171620 | GABRB2 | c.763C>G (p.Leu255Val) n.845C>G c.*222C>G (n.*222C>G) c.511C>G (p.Leu171Val) c.13C>G (p.Leu5Val) c.283C>G (p.Leu95Val) c.574C>G (p.Leu192Val) | |
| 5 | g.161334821G= | CA1595985516 | GABRB2 | c.763C= (p.Leu255=) n.845C= c.*222C= (n.*222C=) c.511C= (p.Leu171=) c.13C= (p.Leu5=) c.283C= (p.Leu95=) c.574C= (p.Leu192=) | |
| 5 | g.161334821G>T | CA362171621 | GABRB2 | c.763C>A (p.Leu255Met) n.845C>A c.*222C>A (n.*222C>A) c.511C>A (p.Leu171Met) c.13C>A (p.Leu5Met) c.283C>A (p.Leu95Met) c.574C>A (p.Leu192Met) | |
| 5 | g.161334822G>A | CA447604114 | GABRB2 | c.762C>T (p.Ile254=) n.844C>T c.*221C>T (n.*221C>T) c.510C>T (p.Ile170=) c.12C>T (p.Ile4=) c.282C>T (p.Ile94=) c.573C>T (p.Ile191=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 5 | g.161334822G>C | CA362171622 | GABRB2 | c.762C>G (p.Ile254Met) n.844C>G c.*221C>G (n.*221C>G) c.510C>G (p.Ile170Met) c.12C>G (p.Ile4Met) c.282C>G (p.Ile94Met) c.573C>G (p.Ile191Met) | |
| 5 | g.161334822G= | CA1595985517 | GABRB2 | c.762C= (p.Ile254=) n.844C= c.*221C= (n.*221C=) c.510C= (p.Ile170=) c.12C= (p.Ile4=) c.282C= (p.Ile94=) c.573C= (p.Ile191=) | |
| 5 | g.161334822G>T | CA447604115 | GABRB2 | c.762C>A (p.Ile254=) n.844C>A c.*221C>A (n.*221C>A) c.510C>A (p.Ile170=) c.12C>A (p.Ile4=) c.282C>A (p.Ile94=) c.573C>A (p.Ile191=) | |
| 5 | g.161334823A>C | CA362171623 | GABRB2 | c.761T>G (p.Ile254Ser) n.843T>G c.*220T>G (n.*220T>G) c.509T>G (p.Ile170Ser) c.11T>G (p.Ile4Ser) c.281T>G (p.Ile94Ser) c.572T>G (p.Ile191Ser) | |
| 5 | g.161334823A>G | CA362171624 | GABRB2 | c.761T>C (p.Ile254Thr) n.843T>C c.*220T>C (n.*220T>C) c.509T>C (p.Ile170Thr) c.11T>C (p.Ile4Thr) c.281T>C (p.Ile94Thr) c.572T>C (p.Ile191Thr) | |
| 5 | g.161334823A>T | CA362171625 | GABRB2 | c.761T>A (p.Ile254Asn) n.843T>A c.*220T>A (n.*220T>A) c.509T>A (p.Ile170Asn) c.11T>A (p.Ile4Asn) c.281T>A (p.Ile94Asn) c.572T>A (p.Ile191Asn) | |
| 5 | g.161334824T>A | CA362171626 | GABRB2 | c.760A>T (p.Ile254Phe) n.842A>T c.*219A>T (n.*219A>T) c.508A>T (p.Ile170Phe) c.10A>T (p.Ile4Phe) c.280A>T (p.Ile94Phe) c.571A>T (p.Ile191Phe) | |
| 5 | g.161334824T>C | CA362171627 | GABRB2 | c.760A>G (p.Ile254Val) n.842A>G c.*219A>G (n.*219A>G) c.508A>G (p.Ile170Val) c.10A>G (p.Ile4Val) c.280A>G (p.Ile94Val) c.571A>G (p.Ile191Val) | |
| 5 | g.161334824T>G | CA362171628 | GABRB2 | c.760A>C (p.Ile254Leu) n.842A>C c.*219A>C (n.*219A>C) c.508A>C (p.Ile170Leu) c.10A>C (p.Ile4Leu) c.280A>C (p.Ile94Leu) c.571A>C (p.Ile191Leu) | |
| 5 | g.161334825G>A | CA447604116 | GABRB2 | c.759C>T (p.Ser253=) n.841C>T c.*218C>T (n.*218C>T) c.507C>T (p.Ser169=) c.9C>T (p.Ser3=) c.279C>T (p.Ser93=) c.570C>T (p.Ser190=) | |
| 5 | g.161334825G>C | CA447604117 | GABRB2 | c.759C>G (p.Ser253=) n.841C>G c.*218C>G (n.*218C>G) c.507C>G (p.Ser169=) c.9C>G (p.Ser3=) c.279C>G (p.Ser93=) c.570C>G (p.Ser190=) | |
| 5 | g.161334825G>T | CA447604118 | GABRB2 | c.759C>A (p.Ser253=) n.841C>A c.*218C>A (n.*218C>A) c.507C>A (p.Ser169=) c.9C>A (p.Ser3=) c.279C>A (p.Ser93=) c.570C>A (p.Ser190=) | |
| 5 | g.161334826G>A | CA362171629 | GABRB2 | c.758C>T (p.Ser253Phe) n.840C>T c.*217C>T (n.*217C>T) c.506C>T (p.Ser169Phe) c.8C>T (p.Ser3Phe) c.278C>T (p.Ser93Phe) c.569C>T (p.Ser190Phe) | COSMIC COSMIC |
| 5 | g.161334826G>C | CA362171630 | GABRB2 | c.758C>G (p.Ser253Cys) n.840C>G c.*217C>G (n.*217C>G) c.506C>G (p.Ser169Cys) c.8C>G (p.Ser3Cys) c.278C>G (p.Ser93Cys) c.569C>G (p.Ser190Cys) | ClinVar dbSNP |
| 5 | g.161334826G= | CA1595985518 | GABRB2 | c.758C= (p.Ser253=) n.840C= c.*217C= (n.*217C=) c.506C= (p.Ser169=) c.8C= (p.Ser3=) c.278C= (p.Ser93=) c.569C= (p.Ser190=) | |
| 5 | g.161334826G>T | CA362171631 | GABRB2 | c.758C>A (p.Ser253Tyr) n.840C>A c.*217C>A (n.*217C>A) c.506C>A (p.Ser169Tyr) c.8C>A (p.Ser3Tyr) c.278C>A (p.Ser93Tyr) c.569C>A (p.Ser190Tyr) | |
| 5 | g.161334827A>C | CA362171634 | GABRB2 | c.757T>G (p.Ser253Ala) n.839T>G c.*216T>G (n.*216T>G) c.505T>G (p.Ser169Ala) c.7T>G (p.Ser3Ala) c.277T>G (p.Ser93Ala) c.568T>G (p.Ser190Ala) | |
| 5 | g.161334827A>G | CA362171632 | GABRB2 | c.757T>C (p.Ser253Pro) n.839T>C c.*216T>C (n.*216T>C) c.505T>C (p.Ser169Pro) c.7T>C (p.Ser3Pro) c.277T>C (p.Ser93Pro) c.568T>C (p.Ser190Pro) | |
| 5 | g.161334827A>T | CA362171633 | GABRB2 | c.757T>A (p.Ser253Thr) n.839T>A c.*216T>A (n.*216T>A) c.505T>A (p.Ser169Thr) c.7T>A (p.Ser3Thr) c.277T>A (p.Ser93Thr) c.568T>A (p.Ser190Thr) | |
| 5 | g.161334828A>C | CA447604120 | GABRB2 | c.756T>G (p.Pro252=) n.838T>G c.*215T>G (n.*215T>G) c.504T>G (p.Pro168=) c.6T>G (p.Pro2=) c.276T>G (p.Pro92=) c.567T>G (p.Pro189=) | |
| 5 | g.161334828A>G | CA447604121 | GABRB2 | c.756T>C (p.Pro252=) n.838T>C c.*215T>C (n.*215T>C) c.504T>C (p.Pro168=) c.6T>C (p.Pro2=) c.276T>C (p.Pro92=) c.567T>C (p.Pro189=) | |
| 5 | g.161334828A>T | CA447604122 | GABRB2 | c.756T>A (p.Pro252=) n.838T>A c.*215T>A (n.*215T>A) c.504T>A (p.Pro168=) c.6T>A (p.Pro2=) c.276T>A (p.Pro92=) c.567T>A (p.Pro189=) | |
| 5 | g.161334829G>A | CA362171635 | GABRB2 | c.755C>T (p.Pro252Leu) n.837C>T c.*214C>T (n.*214C>T) c.503C>T (p.Pro168Leu) c.5C>T (p.Pro2Leu) c.275C>T (p.Pro92Leu) c.566C>T (p.Pro189Leu) | ClinVar dbSNP |
| 5 | g.161334829G>C | CA362171636 | GABRB2 | c.755C>G (p.Pro252Arg) n.837C>G c.*214C>G (n.*214C>G) c.503C>G (p.Pro168Arg) c.5C>G (p.Pro2Arg) c.275C>G (p.Pro92Arg) c.566C>G (p.Pro189Arg) | |
| 5 | g.161334829G>T | CA362171637 | GABRB2 | c.755C>A (p.Pro252His) n.837C>A c.*214C>A (n.*214C>A) c.503C>A (p.Pro168His) c.5C>A (p.Pro2His) c.275C>A (p.Pro92His) c.566C>A (p.Pro189His) | |
| 5 | g.161334830G>A | CA362171638 | GABRB2 | c.754C>T (p.Pro252Ser) n.836C>T c.*213C>T (n.*213C>T) c.502C>T (p.Pro168Ser) c.4C>T (p.Pro2Ser) c.274C>T (p.Pro92Ser) c.565C>T (p.Pro189Ser) | ClinVar dbSNP |
| 5 | g.161334830G>C | CA357915 | GABRB2 | c.754C>G (p.Pro252Ala) n.836C>G c.*213C>G (n.*213C>G) c.502C>G (p.Pro168Ala) c.4C>G (p.Pro2Ala) c.274C>G (p.Pro92Ala) c.565C>G (p.Pro189Ala) | ClinVar dbSNP |
| 5 | g.161334830G= | CA1595985519 | GABRB2 | c.754C= (p.Pro252=) n.836C= c.*213C= (n.*213C=) c.502C= (p.Pro168=) c.4C= (p.Pro2=) c.274C= (p.Pro92=) c.565C= (p.Pro189=) | |
| 5 | g.161334830G>T | CA362171639 | GABRB2 | c.754C>A (p.Pro252Thr) n.836C>A c.*213C>A (n.*213C>A) c.502C>A (p.Pro168Thr) c.4C>A (p.Pro2Thr) c.274C>A (p.Pro92Thr) c.565C>A (p.Pro189Thr) | ClinVar dbSNP gnomAD v4 |