| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52029766G>A | CA202230 | SGCB | c.341C>T (p.Ser114Phe) c.424C>T c.418C>T (n.418C>T) c.44C>T (p.Ser15Phe) c.131C>T (p.Ser44Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52029766G>C | CA356877299 | SGCB | c.341C>G (p.Ser114Cys) c.424C>G c.418C>G (n.418C>G) c.44C>G (p.Ser15Cys) c.131C>G (p.Ser44Cys) | |
| 4 | g.52029766G= | CA1457429990 | SGCB | c.341C= (p.Ser114=) c.424C= c.418C= (n.418C=) c.44C= (p.Ser15=) c.131C= (p.Ser44=) | |
| 4 | g.52029766G>T | CA356877300 | SGCB | c.341C>A (p.Ser114Tyr) c.424C>A c.418C>A (n.418C>A) c.44C>A (p.Ser15Tyr) c.131C>A (p.Ser44Tyr) | |
| 4 | g.52029767A>C | CA356877301 | SGCB | c.340T>G (p.Ser114Ala) c.423T>G c.417T>G (n.417T>G) c.43T>G (p.Ser15Ala) c.130T>G (p.Ser44Ala) | |
| 4 | g.52029767A>G | CA356877302 | SGCB | c.340T>C (p.Ser114Pro) c.423T>C c.417T>C (n.417T>C) c.43T>C (p.Ser15Pro) c.130T>C (p.Ser44Pro) | |
| 4 | g.52029767A>T | CA356877303 | SGCB | c.340T>A (p.Ser114Thr) c.423T>A c.417T>A (n.417T>A) c.43T>A (p.Ser15Thr) c.130T>A (p.Ser44Thr) | |
| 4 | g.52029768T>A | CA439274329 | SGCB | c.339A>T (p.Val113=) c.422A>T c.416A>T (n.416A>T) c.42A>T (p.Val14=) c.129A>T (p.Val43=) | |
| 4 | g.52029768T>C | CA439274328 | SGCB | c.339A>G (p.Val113=) c.422A>G c.416A>G (n.416A>G) c.42A>G (p.Val14=) c.129A>G (p.Val43=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.52029768T>G | CA439274327 | SGCB | c.339A>C (p.Val113=) c.422A>C c.416A>C (n.416A>C) c.42A>C (p.Val14=) c.129A>C (p.Val43=) | |
| 4 | g.52029769A>C | CA356877306 | SGCB | c.338T>G (p.Val113Gly) c.421T>G c.415T>G (n.415T>G) c.41T>G (p.Val14Gly) c.128T>G (p.Val43Gly) | |
| 4 | g.52029769A>G | CA356877305 | SGCB | c.338T>C (p.Val113Ala) c.421T>C c.415T>C (n.415T>C) c.41T>C (p.Val14Ala) c.128T>C (p.Val43Ala) | |
| 4 | g.52029769A>T | CA356877304 | SGCB | c.338T>A (p.Val113Glu) c.421T>A c.415T>A (n.415T>A) c.41T>A (p.Val14Glu) c.128T>A (p.Val43Glu) | |
| 4 | g.52029770C>A | CA356877307 | SGCB | c.337G>T (p.Val113Leu) c.420G>T c.414G>T (n.414G>T) c.40G>T (p.Val14Leu) c.127G>T (p.Val43Leu) | |
| 4 | g.52029770C>G | CA356877308 | SGCB | c.337G>C (p.Val113Leu) c.420G>C c.414G>C (n.414G>C) c.40G>C (p.Val14Leu) c.127G>C (p.Val43Leu) | |
| 4 | g.52029770C>T | CA356877309 | SGCB | c.337G>A (p.Val113Ile) c.420G>A c.414G>A (n.414G>A) c.40G>A (p.Val14Ile) c.127G>A (p.Val43Ile) | |
| 4 | g.52029773_52029776del | CA2586973772 | SGCB | c.334_337del (p.Gln112TyrfsTer6) c.417_420del c.411_414del (n.411_414del) c.37_40del (p.Gln13TyrfsTer6) c.124_127del (p.Gln42TyrfsTer6) | |
| 4 | g.52029771T>A | CA356877310 | SGCB | c.336A>T (p.Gln112His) c.419A>T c.413A>T (n.413A>T) c.39A>T (p.Gln13His) c.126A>T (p.Gln42His) | |
| 4 | g.52029771T>C | CA439274335 | SGCB | c.336A>G (p.Gln112=) c.419A>G c.413A>G (n.413A>G) c.39A>G (p.Gln13=) c.126A>G (p.Gln42=) | |
| 4 | g.52029771T>G | CA356877311 | SGCB | c.336A>C (p.Gln112His) c.419A>C c.413A>C (n.413A>C) c.39A>C (p.Gln13His) c.126A>C (p.Gln42His) | |
| 4 | g.52029772T>A | CA356877312 | SGCB | c.335A>T (p.Gln112Leu) c.418A>T c.412A>T (n.412A>T) c.38A>T (p.Gln13Leu) c.125A>T (p.Gln42Leu) | |
| 4 | g.52029772T>C | CA356877313 | SGCB | c.335A>G (p.Gln112Arg) c.418A>G c.412A>G (n.412A>G) c.38A>G (p.Gln13Arg) c.125A>G (p.Gln42Arg) | |
| 4 | g.52029772T>G | CA356877314 | SGCB | c.335A>C (p.Gln112Pro) c.418A>C c.412A>C (n.412A>C) c.38A>C (p.Gln13Pro) c.125A>C (p.Gln42Pro) | |
| 4 | g.52029773G>A | CA356877315 | SGCB | c.334C>T (p.Gln112Ter) c.417C>T c.411C>T (n.411C>T) c.37C>T (p.Gln13Ter) c.124C>T (p.Gln42Ter) | ClinVar dbSNP |
| 4 | g.52029773G>C | CA356877316 | SGCB | c.334C>G (p.Gln112Glu) c.417C>G c.411C>G (n.411C>G) c.37C>G (p.Gln13Glu) c.124C>G (p.Gln42Glu) | |
| 4 | g.52029773G= | CA1457429991 | SGCB | c.334C= (p.Gln112=) c.417C= c.411C= (n.411C=) c.37C= (p.Gln13=) c.124C= (p.Gln42=) | |
| 4 | g.52029773G>T | CA356877317 | SGCB | c.334C>A (p.Gln112Lys) c.417C>A c.411C>A (n.411C>A) c.37C>A (p.Gln13Lys) c.124C>A (p.Gln42Lys) | |
| 4 | g.52029774C>A | CA356877319 | SGCB | c.333G>T (p.Lys111Asn) c.416G>T c.410G>T (n.410G>T) c.36G>T (p.Lys12Asn) c.123G>T (p.Lys41Asn) | |
| 4 | g.52029774C= | CA1457429992 | SGCB | c.333G= (p.Lys111=) c.416G= c.410G= (n.410G=) c.36G= (p.Lys12=) c.123G= (p.Lys41=) | |
| 4 | g.52029774C>G | CA356877318 | SGCB | c.333G>C (p.Lys111Asn) c.416G>C c.410G>C (n.410G>C) c.36G>C (p.Lys12Asn) c.123G>C (p.Lys41Asn) | |
| 4 | g.52029774C>T | CA439274340 | SGCB | c.333G>A (p.Lys111=) c.416G>A c.410G>A (n.410G>A) c.36G>A (p.Lys12=) c.123G>A (p.Lys41=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52029775T>A | CA356877320 | SGCB | c.332A>T (p.Lys111Met) c.415A>T c.409A>T (n.409A>T) c.35A>T (p.Lys12Met) c.122A>T (p.Lys41Met) | |
| 4 | g.52029775T>C | CA356877321 | SGCB | c.332A>G (p.Lys111Arg) c.415A>G c.409A>G (n.409A>G) c.35A>G (p.Lys12Arg) c.122A>G (p.Lys41Arg) | |
| 4 | g.52029775T>G | CA356877322 | SGCB | c.332A>C (p.Lys111Thr) c.415A>C c.409A>C (n.409A>C) c.35A>C (p.Lys12Thr) c.122A>C (p.Lys41Thr) | |
| 4 | g.52029776T>A | CA356877323 | SGCB | c.331A>T (p.Lys111Ter) c.414A>T c.408A>T (n.408A>T) c.34A>T (p.Lys12Ter) c.121A>T (p.Lys41Ter) | |
| 4 | g.52029776T>C | CA356877324 | SGCB | c.331A>G (p.Lys111Glu) c.414A>G c.408A>G (n.408A>G) c.34A>G (p.Lys12Glu) c.121A>G (p.Lys41Glu) | |
| 4 | g.52029776T>G | CA356877325 | SGCB | c.331A>C (p.Lys111Gln) c.414A>C c.408A>C (n.408A>C) c.34A>C (p.Lys12Gln) c.121A>C (p.Lys41Gln) | |
| 4 | g.52029777A>C | CA356877326 | SGCB | c.330T>G (p.Phe110Leu) c.413T>G c.407T>G (n.407T>G) c.33T>G (p.Phe11Leu) c.120T>G (p.Phe40Leu) | |
| 4 | g.52029777A>G | CA439274342 | SGCB | c.330T>C (p.Phe110=) c.413T>C c.407T>C (n.407T>C) c.33T>C (p.Phe11=) c.120T>C (p.Phe40=) | |
| 4 | g.52029777A>T | CA356877327 | SGCB | c.330T>A (p.Phe110Leu) c.413T>A c.407T>A (n.407T>A) c.33T>A (p.Phe11Leu) c.120T>A (p.Phe40Leu) | |
| 4 | g.52029778A>C | CA356877328 | SGCB | c.329T>G (p.Phe110Cys) c.412T>G c.406T>G (n.406T>G) c.32T>G (p.Phe11Cys) c.119T>G (p.Phe40Cys) | |
| 4 | g.52029778A>G | CA356877329 | SGCB | c.329T>C (p.Phe110Ser) c.412T>C c.406T>C (n.406T>C) c.32T>C (p.Phe11Ser) c.119T>C (p.Phe40Ser) | |
| 4 | g.52029778A>T | CA356877330 | SGCB | c.329T>A (p.Phe110Tyr) c.412T>A c.406T>A (n.406T>A) c.32T>A (p.Phe11Tyr) c.119T>A (p.Phe40Tyr) | |
| 4 | g.52029779A>C | CA356877333 | SGCB | c.328T>G (p.Phe110Val) c.411T>G c.405T>G (n.405T>G) c.31T>G (p.Phe11Val) c.118T>G (p.Phe40Val) | |
| 4 | g.52029779A>G | CA356877332 | SGCB | c.328T>C (p.Phe110Leu) c.411T>C c.405T>C (n.405T>C) c.31T>C (p.Phe11Leu) c.118T>C (p.Phe40Leu) | |
| 4 | g.52029779A>T | CA356877331 | SGCB | c.328T>A (p.Phe110Ile) c.411T>A c.405T>A (n.405T>A) c.31T>A (p.Phe11Ile) c.118T>A (p.Phe40Ile) | |
| 4 | g.52029780T>A | CA439274348 | SGCB | c.327A>T (p.Arg109=) c.410A>T c.404A>T (n.404A>T) c.30A>T (p.Arg10=) c.117A>T (p.Arg39=) | |
| 4 | g.52029780T>C | CA2918435 | SGCB | c.327A>G (p.Arg109=) c.410A>G c.404A>G (n.404A>G) c.30A>G (p.Arg10=) c.117A>G (p.Arg39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52029780T>G | CA439274350 | SGCB | c.327A>C (p.Arg109=) c.410A>C c.404A>C (n.404A>C) c.30A>C (p.Arg10=) c.117A>C (p.Arg39=) | |
| 4 | g.52029780T= | CA1457429993 | SGCB | c.327A= (p.Arg109=) c.410A= c.404A= (n.404A=) c.30A= (p.Arg10=) c.117A= (p.Arg39=) |