| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625614C>A | CA10324802 | ARSA | c.1175G>T (p.Arg392Leu) c.917G>T (p.Arg306Leu) c.43G>T c.1108-150G>T (n.1108-150G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625614C= | CA2410958579 | ARSA | c.1175G= (p.Arg392=) c.917G= (p.Arg306=) c.43G= c.1108-150G= (n.1108-150G=) | |
| 22 | g.50625614C>G | CA412170057 | ARSA | c.1175G>C (p.Arg392Pro) c.917G>C (p.Arg306Pro) c.43G>C c.1108-150G>C (n.1108-150G>C) | |
| 22 | g.50625614C>T | CA218988 | ARSA | c.1175G>A (p.Arg392Gln) c.917G>A (p.Arg306Gln) c.43G>A c.1108-150G>A (n.1108-150G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625615G>A | CA278038 | ARSA | c.1174C>T (p.Arg392Trp) c.916C>T (p.Arg306Trp) c.42C>T c.1108-151C>T (n.1108-151C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625615G>C | CA10324803 | ARSA | c.1174C>G (p.Arg392Gly) c.916C>G (p.Arg306Gly) c.42C>G c.1108-151C>G (n.1108-151C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625615G= | CA2410958580 | ARSA | c.1174C= (p.Arg392=) c.916C= (p.Arg306=) c.42C= c.1108-151C= (n.1108-151C=) | |
| 22 | g.50625615G>T | CA515248773 | ARSA | c.1174C>A (p.Arg392=) c.916C>A (p.Arg306=) c.42C>A c.1108-151C>A (n.1108-151C>A) | |
| 22 | g.50625616C>A | CA515248774 | ARSA | c.1173G>T (p.Val391=) c.915G>T (p.Val305=) c.41G>T c.1108-152G>T (n.1108-152G>T) | |
| 22 | g.50625616C>G | CA515248775 | ARSA | c.1173G>C (p.Val391=) c.915G>C (p.Val305=) c.41G>C c.1108-152G>C (n.1108-152G>C) | |
| 22 | g.50625616C>T | CA515248776 | ARSA | c.1173G>A (p.Val391=) c.915G>A (p.Val305=) c.41G>A c.1108-152G>A (n.1108-152G>A) | ClinVar |
| 22 | g.50625617A>C | CA412170063 | ARSA | c.1172T>G (p.Val391Gly) c.914T>G (p.Val305Gly) c.40T>G c.1108-153T>G (n.1108-153T>G) | |
| 22 | g.50625617A>G | CA412170069 | ARSA | c.1172T>C (p.Val391Ala) c.914T>C (p.Val305Ala) c.40T>C c.1108-153T>C (n.1108-153T>C) | |
| 22 | g.50625617A>T | CA412170065 | ARSA | c.1172T>A (p.Val391Glu) c.914T>A (p.Val305Glu) c.40T>A c.1108-153T>A (n.1108-153T>A) | |
| 22 | g.50625618C>A | CA412170070 | ARSA | c.1171G>T (p.Val391Leu) c.913G>T (p.Val305Leu) c.39G>T c.1108-154G>T (n.1108-154G>T) | |
| 22 | g.50625618C= | CA2410958581 | ARSA | c.1171G= (p.Val391=) c.913G= (p.Val305=) c.39G= c.1108-154G= (n.1108-154G=) | |
| 22 | g.50625618C>G | CA412170071 | ARSA | c.1171G>C (p.Val391Leu) c.913G>C (p.Val305Leu) c.39G>C c.1108-154G>C (n.1108-154G>C) | ClinVar gnomAD v4 |
| 22 | g.50625618C>T | CA412170074 | ARSA | c.1171G>A (p.Val391Met) c.913G>A (p.Val305Met) c.39G>A c.1108-154G>A (n.1108-154G>A) | dbSNP gnomAD v4 |
| 22 | g.50625619A>C | CA515248777 | ARSA | c.1170T>G (p.Ala390=) c.912T>G (p.Ala304=) c.38T>G c.1108-155T>G (n.1108-155T>G) | |
| 22 | g.50625619A>G | CA515248778 | ARSA | c.1170T>C (p.Ala390=) c.912T>C (p.Ala304=) c.38T>C c.1108-155T>C (n.1108-155T>C) | gnomAD v4 |
| 22 | g.50625619A>T | CA515248779 | ARSA | c.1170T>A (p.Ala390=) c.912T>A (p.Ala304=) c.38T>A c.1108-155T>A (n.1108-155T>A) | |
| 22 | g.50625620G>A | CA412170076 | ARSA | c.1169C>T (p.Ala390Val) c.911C>T (p.Ala304Val) c.37C>T c.1108-156C>T (n.1108-156C>T) | dbSNP |
| 22 | g.50625620G>C | CA412170078 | ARSA | c.1169C>G (p.Ala390Gly) c.911C>G (p.Ala304Gly) c.37C>G c.1108-156C>G (n.1108-156C>G) | |
| 22 | g.50625620G= | CA2410958582 | ARSA | c.1169C= (p.Ala390=) c.911C= (p.Ala304=) c.37C= c.1108-156C= (n.1108-156C=) | |
| 22 | g.50625620G>T | CA412170080 | ARSA | c.1169C>A (p.Ala390Asp) c.911C>A (p.Ala304Asp) c.37C>A c.1108-156C>A (n.1108-156C>A) | |
| 22 | g.50625621C>A | CA412170083 | ARSA | c.1168G>T (p.Ala390Ser) c.910G>T (p.Ala304Ser) c.36G>T c.1108-157G>T (n.1108-157G>T) | |
| 22 | g.50625621C= | CA2410958583 | ARSA | c.1168G= (p.Ala390=) c.910G= (p.Ala304=) c.36G= c.1108-157G= (n.1108-157G=) | |
| 22 | g.50625621C>G | CA412170085 | ARSA | c.1168G>C (p.Ala390Pro) c.910G>C (p.Ala304Pro) c.36G>C c.1108-157G>C (n.1108-157G>C) | dbSNP |
| 22 | g.50625621C>T | CA412170094 | ARSA | c.1168G>A (p.Ala390Thr) c.910G>A (p.Ala304Thr) c.36G>A c.1108-157G>A (n.1108-157G>A) | |
| 22 | g.50625622A= | CA2410958584 | ARSA | c.1167T= (p.Phe389=) c.909T= (p.Phe303=) c.35T= c.1108-158T= (n.1108-158T=) | |
| 22 | g.50625622A>C | CA325531258 | ARSA | c.1167T>G (p.Phe389Leu) c.909T>G (p.Phe303Leu) c.35T>G c.1108-158T>G (n.1108-158T>G) | dbSNP |
| 22 | g.50625622A>G | CA515248780 | ARSA | c.1167T>C (p.Phe389=) c.909T>C (p.Phe303=) c.35T>C c.1108-158T>C (n.1108-158T>C) | gnomAD v4 |
| 22 | g.50625622A>T | CA412170106 | ARSA | c.1167T>A (p.Phe389Leu) c.909T>A (p.Phe303Leu) c.35T>A c.1108-158T>A (n.1108-158T>A) | |
| 22 | g.50625626del | CA2657591103 | ARSA | c.1167del (p.Phe389LeufsTer?) c.909del (p.Phe303LeufsTer?) c.35del c.1108-158del (n.1108-158del) c.1167del (p.Phe389LeufsTer28) | gnomAD v4 |
| 22 | g.50625623A= | CA2410958585 | ARSA | c.1166T= (p.Phe389=) c.908T= (p.Phe303=) c.34T= c.1108-159T= (n.1108-159T=) | |
| 22 | g.50625623A>C | CA412170119 | ARSA | c.1166T>G (p.Phe389Cys) c.908T>G (p.Phe303Cys) c.34T>G c.1108-159T>G (n.1108-159T>G) | |
| 22 | g.50625623A>G | CA325531259 | ARSA | c.1166T>C (p.Phe389Ser) c.908T>C (p.Phe303Ser) c.34T>C c.1108-159T>C (n.1108-159T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625623A>T | CA412170110 | ARSA | c.1166T>A (p.Phe389Tyr) c.908T>A (p.Phe303Tyr) c.34T>A c.1108-159T>A (n.1108-159T>A) | |
| 22 | g.50625624A>C | CA412170123 | ARSA | c.1165T>G (p.Phe389Val) c.907T>G (p.Phe303Val) c.33T>G c.1108-160T>G (n.1108-160T>G) | |
| 22 | g.50625624A>G | CA412170125 | ARSA | c.1165T>C (p.Phe389Leu) c.907T>C (p.Phe303Leu) c.33T>C c.1108-160T>C (n.1108-160T>C) | |
| 22 | g.50625624A>T | CA412170128 | ARSA | c.1165T>A (p.Phe389Ile) c.907T>A (p.Phe303Ile) c.33T>A c.1108-160T>A (n.1108-160T>A) | |
| 22 | g.50625625A>C | CA515248781 | ARSA | c.1164T>G (p.Val388=) c.906T>G (p.Val302=) c.32T>G c.1108-161T>G (n.1108-161T>G) | |
| 22 | g.50625625A>G | CA515248782 | ARSA | c.1164T>C (p.Val388=) c.906T>C (p.Val302=) c.32T>C c.1108-161T>C (n.1108-161T>C) | |
| 22 | g.50625625A>T | CA515248783 | ARSA | c.1164T>A (p.Val388=) c.906T>A (p.Val302=) c.32T>A c.1108-161T>A (n.1108-161T>A) | |
| 22 | g.50625626A>C | CA412170134 | ARSA | c.1163T>G (p.Val388Gly) c.905T>G (p.Val302Gly) c.31T>G c.1108-162T>G (n.1108-162T>G) | |
| 22 | g.50625626A>G | CA412170136 | ARSA | c.1163T>C (p.Val388Ala) c.905T>C (p.Val302Ala) c.31T>C c.1108-162T>C (n.1108-162T>C) | |
| 22 | g.50625626A>T | CA412170139 | ARSA | c.1163T>A (p.Val388Asp) c.905T>A (p.Val302Asp) c.31T>A c.1108-162T>A (n.1108-162T>A) | ClinVar |
| 22 | g.50625627C>A | CA412170144 | ARSA | c.1162G>T (p.Val388Phe) c.904G>T (p.Val302Phe) c.30G>T c.1108-163G>T (n.1108-163G>T) | ClinVar dbSNP |
| 22 | g.50625627C= | CA2410958586 | ARSA | c.1162G= (p.Val388=) c.904G= (p.Val302=) c.30G= c.1108-163G= (n.1108-163G=) | |
| 22 | g.50625627C>G | CA412170150 | ARSA | c.1162G>C (p.Val388Leu) c.904G>C (p.Val302Leu) c.30G>C c.1108-163G>C (n.1108-163G>C) |