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.38725178_38725201del | CA2665099500 | SCN10A | c.3205_3228del (p.Ser1069_Glu1076del) c.3202_3225del (p.Ser1068_Glu1075del) c.3229_3252del (p.Ser1077_Glu1084del) c.2911_2934del (p.Ser971_Glu978del) c.3214_3237del (p.Ser1072_Glu1079del) c.3211_3234del (p.Ser1071_Glu1078del) c.2920_2943del (p.Ser974_Glu981del) | gnomAD v4 |
| 3 | g.38725184del | CA2665099537 | SCN10A | c.3218del (p.Val1073AlafsTer20) c.3215del (p.Val1072AlafsTer20) c.3242del (p.Val1081AlafsTer20) c.2924del (p.Val975AlafsTer20) c.3227del (p.Val1076AlafsTer20) c.3224del (p.Val1075AlafsTer20) c.2933del (p.Val978AlafsTer20) | gnomAD v4 |
| 3 | g.38725184A= | CA1358640553 | SCN10A | c.3218T= (p.Val1073=) c.3215T= (p.Val1072=) c.3242T= (p.Val1081=) c.2924T= (p.Val975=) c.3227T= (p.Val1076=) c.3224T= (p.Val1075=) c.2933T= (p.Val978=) | |
| 3 | g.38725184A>C | CA352156591 | SCN10A | c.3218T>G (p.Val1073Gly) c.3215T>G (p.Val1072Gly) c.3242T>G (p.Val1081Gly) c.2924T>G (p.Val975Gly) c.3227T>G (p.Val1076Gly) c.3224T>G (p.Val1075Gly) c.2933T>G (p.Val978Gly) | gnomAD v4 |
| 3 | g.38725184A>G | CA2320322 | SCN10A | c.3218T>C (p.Val1073Ala) c.3215T>C (p.Val1072Ala) c.3242T>C (p.Val1081Ala) c.2924T>C (p.Val975Ala) c.3227T>C (p.Val1076Ala) c.3224T>C (p.Val1075Ala) c.2933T>C (p.Val978Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38725184A>T | CA352156592 | SCN10A | c.3218T>A (p.Val1073Asp) c.3215T>A (p.Val1072Asp) c.3242T>A (p.Val1081Asp) c.2924T>A (p.Val975Asp) c.3227T>A (p.Val1076Asp) c.3224T>A (p.Val1075Asp) c.2933T>A (p.Val978Asp) | dbSNP gnomAD v4 |
| 3 | g.38725184_38725185insG | CA2665099574 | SCN10A | c.3217_3218insC (p.Val1073AlafsTer4) c.3214_3215insC (p.Val1072AlafsTer4) c.3241_3242insC (p.Val1081AlafsTer4) c.2923_2924insC (p.Val975AlafsTer4) c.3226_3227insC (p.Val1076AlafsTer4) c.3223_3224insC (p.Val1075AlafsTer4) c.2932_2933insC (p.Val978AlafsTer4) | gnomAD v4 |
| 3 | g.38725185C>A | CA352156593 | SCN10A | c.3217G>T (p.Val1073Phe) c.3214G>T (p.Val1072Phe) c.3241G>T (p.Val1081Phe) c.2923G>T (p.Val975Phe) c.3226G>T (p.Val1076Phe) c.3223G>T (p.Val1075Phe) c.2932G>T (p.Val978Phe) | gnomAD v4 |
| 3 | g.38725185C= | CA1358640554 | SCN10A | c.3217G= (p.Val1073=) c.3214G= (p.Val1072=) c.3241G= (p.Val1081=) c.2923G= (p.Val975=) c.3226G= (p.Val1076=) c.3223G= (p.Val1075=) c.2932G= (p.Val978=) | |
| 3 | g.38725185C>G | CA352156594 | SCN10A | c.3217G>C (p.Val1073Leu) c.3214G>C (p.Val1072Leu) c.3241G>C (p.Val1081Leu) c.2923G>C (p.Val975Leu) c.3226G>C (p.Val1076Leu) c.3223G>C (p.Val1075Leu) c.2932G>C (p.Val978Leu) | |
| 3 | g.38725185C>T | CA352156595 | SCN10A | c.3217G>A (p.Val1073Ile) c.3214G>A (p.Val1072Ile) c.3241G>A (p.Val1081Ile) c.2923G>A (p.Val975Ile) c.3226G>A (p.Val1076Ile) c.3223G>A (p.Val1075Ile) c.2932G>A (p.Val978Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38725185_38725186insAGTGGCGAATGCATCCTGTGGGGAGAGGGC | CA2665099572 | SCN10A | c.3217_3218insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1072_Val1073insAlaLeuSerProGlnAspAlaPheAlaThr) c.3214_3215insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1071_Val1072insAlaLeuSerProGlnAspAlaPheAlaThr) c.3241_3242insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1080_Val1081insAlaLeuSerProGlnAspAlaPheAlaThr) c.2923_2924insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln974_Val975insAlaLeuSerProGlnAspAlaPheAlaThr) c.3226_3227insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1075_Val1076insAlaLeuSerProGlnAspAlaPheAlaThr) c.3223_3224insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1074_Val1075insAlaLeuSerProGlnAspAlaPheAlaThr) c.2932_2933insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln977_Val978insAlaLeuSerProGlnAspAlaPheAlaThr) | gnomAD v4 |
| 3 | g.38725186C>A | CA352156596 | SCN10A | c.3216G>T (p.Gln1072His) c.3213G>T (p.Gln1071His) c.3240G>T (p.Gln1080His) c.2922G>T (p.Gln974His) c.3225G>T (p.Gln1075His) c.3222G>T (p.Gln1074His) c.2931G>T (p.Gln977His) | |
| 3 | g.38725186C= | CA1358640555 | SCN10A | c.3216G= (p.Gln1072=) c.3213G= (p.Gln1071=) c.3240G= (p.Gln1080=) c.2922G= (p.Gln974=) c.3225G= (p.Gln1075=) c.3222G= (p.Gln1074=) c.2931G= (p.Gln977=) | |
| 3 | g.38725186C>G | CA352156597 | SCN10A | c.3216G>C (p.Gln1072His) c.3213G>C (p.Gln1071His) c.3240G>C (p.Gln1080His) c.2922G>C (p.Gln974His) c.3225G>C (p.Gln1075His) c.3222G>C (p.Gln1074His) c.2931G>C (p.Gln977His) | |
| 3 | g.38725186C>T | CA433138451 | SCN10A | c.3216G>A (p.Gln1072=) c.3213G>A (p.Gln1071=) c.3240G>A (p.Gln1080=) c.2922G>A (p.Gln974=) c.3225G>A (p.Gln1075=) c.3222G>A (p.Gln1074=) c.2931G>A (p.Gln977=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38725187T>A | CA352156598 | SCN10A | c.3215A>T (p.Gln1072Leu) c.3212A>T (p.Gln1071Leu) c.3239A>T (p.Gln1080Leu) c.2921A>T (p.Gln974Leu) c.3224A>T (p.Gln1075Leu) c.3221A>T (p.Gln1074Leu) c.2930A>T (p.Gln977Leu) | |
| 3 | g.38725187T>C | CA352156599 | SCN10A | c.3215A>G (p.Gln1072Arg) c.3212A>G (p.Gln1071Arg) c.3239A>G (p.Gln1080Arg) c.2921A>G (p.Gln974Arg) c.3224A>G (p.Gln1075Arg) c.3221A>G (p.Gln1074Arg) c.2930A>G (p.Gln977Arg) | gnomAD v4 |
| 3 | g.38725187T>G | CA352156600 | SCN10A | c.3215A>C (p.Gln1072Pro) c.3212A>C (p.Gln1071Pro) c.3239A>C (p.Gln1080Pro) c.2921A>C (p.Gln974Pro) c.3224A>C (p.Gln1075Pro) c.3221A>C (p.Gln1074Pro) c.2930A>C (p.Gln977Pro) | |
| 3 | g.38725188G>A | CA352156603 | SCN10A | c.3214C>T (p.Gln1072Ter) c.3211C>T (p.Gln1071Ter) c.3238C>T (p.Gln1080Ter) c.2920C>T (p.Gln974Ter) c.3223C>T (p.Gln1075Ter) c.3220C>T (p.Gln1074Ter) c.2929C>T (p.Gln977Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38725188G>C | CA352156602 | SCN10A | c.3214C>G (p.Gln1072Glu) c.3211C>G (p.Gln1071Glu) c.3238C>G (p.Gln1080Glu) c.2920C>G (p.Gln974Glu) c.3223C>G (p.Gln1075Glu) c.3220C>G (p.Gln1074Glu) c.2929C>G (p.Gln977Glu) | ClinVar |
| 3 | g.38725188G= | CA1358640556 | SCN10A | c.3214C= (p.Gln1072=) c.3211C= (p.Gln1071=) c.3238C= (p.Gln1080=) c.2920C= (p.Gln974=) c.3223C= (p.Gln1075=) c.3220C= (p.Gln1074=) c.2929C= (p.Gln977=) | |
| 3 | g.38725188G>T | CA352156601 | SCN10A | c.3214C>A (p.Gln1072Lys) c.3211C>A (p.Gln1071Lys) c.3238C>A (p.Gln1080Lys) c.2920C>A (p.Gln974Lys) c.3223C>A (p.Gln1075Lys) c.3220C>A (p.Gln1074Lys) c.2929C>A (p.Gln977Lys) | |
| 3 | g.38725189A>C | CA433138456 | SCN10A | c.3213T>G (p.Pro1071=) c.3210T>G (p.Pro1070=) c.3237T>G (p.Pro1079=) c.2919T>G (p.Pro973=) c.3222T>G (p.Pro1074=) c.3219T>G (p.Pro1073=) c.2928T>G (p.Pro976=) | |
| 3 | g.38725189A>G | CA433138457 | SCN10A | c.3213T>C (p.Pro1071=) c.3210T>C (p.Pro1070=) c.3237T>C (p.Pro1079=) c.2919T>C (p.Pro973=) c.3222T>C (p.Pro1074=) c.3219T>C (p.Pro1073=) c.2928T>C (p.Pro976=) | |
| 3 | g.38725189A>T | CA433138458 | SCN10A | c.3213T>A (p.Pro1071=) c.3210T>A (p.Pro1070=) c.3237T>A (p.Pro1079=) c.2919T>A (p.Pro973=) c.3222T>A (p.Pro1074=) c.3219T>A (p.Pro1073=) c.2928T>A (p.Pro976=) | |
| 3 | g.38725190G>A | CA352156604 | SCN10A | c.3212C>T (p.Pro1071Leu) c.3209C>T (p.Pro1070Leu) c.3236C>T (p.Pro1079Leu) c.2918C>T (p.Pro973Leu) c.3221C>T (p.Pro1074Leu) c.3218C>T (p.Pro1073Leu) c.2927C>T (p.Pro976Leu) | |
| 3 | g.38725190G>C | CA352156605 | SCN10A | c.3212C>G (p.Pro1071Arg) c.3209C>G (p.Pro1070Arg) c.3236C>G (p.Pro1079Arg) c.2918C>G (p.Pro973Arg) c.3221C>G (p.Pro1074Arg) c.3218C>G (p.Pro1073Arg) c.2927C>G (p.Pro976Arg) | |
| 3 | g.38725190G>T | CA352156606 | SCN10A | c.3212C>A (p.Pro1071His) c.3209C>A (p.Pro1070His) c.3236C>A (p.Pro1079His) c.2918C>A (p.Pro973His) c.3221C>A (p.Pro1074His) c.3218C>A (p.Pro1073His) c.2927C>A (p.Pro976His) | |
| 3 | g.38725191G>A | CA352156607 | SCN10A | c.3211C>T (p.Pro1071Ser) c.3208C>T (p.Pro1070Ser) c.3235C>T (p.Pro1079Ser) c.2917C>T (p.Pro973Ser) c.3220C>T (p.Pro1074Ser) c.3217C>T (p.Pro1073Ser) c.2926C>T (p.Pro976Ser) | COSMIC |
| 3 | g.38725191G>C | CA352156608 | SCN10A | c.3211C>G (p.Pro1071Ala) c.3208C>G (p.Pro1070Ala) c.3235C>G (p.Pro1079Ala) c.2917C>G (p.Pro973Ala) c.3220C>G (p.Pro1074Ala) c.3217C>G (p.Pro1073Ala) c.2926C>G (p.Pro976Ala) | |
| 3 | g.38725191G>T | CA352156609 | SCN10A | c.3211C>A (p.Pro1071Thr) c.3208C>A (p.Pro1070Thr) c.3235C>A (p.Pro1079Thr) c.2917C>A (p.Pro973Thr) c.3220C>A (p.Pro1074Thr) c.3217C>A (p.Pro1073Thr) c.2926C>A (p.Pro976Thr) | |
| 3 | g.38725192A>C | CA433138463 | SCN10A | c.3210T>G (p.Val1070=) c.3207T>G (p.Val1069=) c.3234T>G (p.Val1078=) c.2916T>G (p.Val972=) c.3219T>G (p.Val1073=) c.3216T>G (p.Val1072=) c.2925T>G (p.Val975=) | |
| 3 | g.38725192A>G | CA433138464 | SCN10A | c.3210T>C (p.Val1070=) c.3207T>C (p.Val1069=) c.3234T>C (p.Val1078=) c.2916T>C (p.Val972=) c.3219T>C (p.Val1073=) c.3216T>C (p.Val1072=) c.2925T>C (p.Val975=) | gnomAD v4 |
| 3 | g.38725192A>T | CA433138465 | SCN10A | c.3210T>A (p.Val1070=) c.3207T>A (p.Val1069=) c.3234T>A (p.Val1078=) c.2916T>A (p.Val972=) c.3219T>A (p.Val1073=) c.3216T>A (p.Val1072=) c.2925T>A (p.Val975=) | |
| 3 | g.38725193A= | CA1358640557 | SCN10A | c.3209T= (p.Val1070=) c.3206T= (p.Val1069=) c.3233T= (p.Val1078=) c.2915T= (p.Val972=) c.3218T= (p.Val1073=) c.3215T= (p.Val1072=) c.2924T= (p.Val975=) | |
| 3 | g.38725193A>C | CA352156610 | SCN10A | c.3209T>G (p.Val1070Gly) c.3206T>G (p.Val1069Gly) c.3233T>G (p.Val1078Gly) c.2915T>G (p.Val972Gly) c.3218T>G (p.Val1073Gly) c.3215T>G (p.Val1072Gly) c.2924T>G (p.Val975Gly) | |
| 3 | g.38725193A>G | CA352156611 | SCN10A | c.3209T>C (p.Val1070Ala) c.3206T>C (p.Val1069Ala) c.3233T>C (p.Val1078Ala) c.2915T>C (p.Val972Ala) c.3218T>C (p.Val1073Ala) c.3215T>C (p.Val1072Ala) c.2924T>C (p.Val975Ala) | |
| 3 | g.38725193A>T | CA352156612 | SCN10A | c.3209T>A (p.Val1070Asp) c.3206T>A (p.Val1069Asp) c.3233T>A (p.Val1078Asp) c.2915T>A (p.Val972Asp) c.3218T>A (p.Val1073Asp) c.3215T>A (p.Val1072Asp) c.2924T>A (p.Val975Asp) | dbSNP gnomAD v2 |
| 3 | g.38725194C>A | CA352156613 | SCN10A | c.3208G>T (p.Val1070Phe) c.3205G>T (p.Val1069Phe) c.3232G>T (p.Val1078Phe) c.2914G>T (p.Val972Phe) c.3217G>T (p.Val1073Phe) c.3214G>T (p.Val1072Phe) c.2923G>T (p.Val975Phe) | dbSNP gnomAD v2 |
| 3 | g.38725194C= | CA1358640558 | SCN10A | c.3208G= (p.Val1070=) c.3205G= (p.Val1069=) c.3232G= (p.Val1078=) c.2914G= (p.Val972=) c.3217G= (p.Val1073=) c.3214G= (p.Val1072=) c.2923G= (p.Val975=) | |
| 3 | g.38725194C>G | CA2320323 | SCN10A | c.3208G>C (p.Val1070Leu) c.3205G>C (p.Val1069Leu) c.3232G>C (p.Val1078Leu) c.2914G>C (p.Val972Leu) c.3217G>C (p.Val1073Leu) c.3214G>C (p.Val1072Leu) c.2923G>C (p.Val975Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38725194C>T | CA352156614 | SCN10A | c.3208G>A (p.Val1070Ile) c.3205G>A (p.Val1069Ile) c.3232G>A (p.Val1078Ile) c.2914G>A (p.Val972Ile) c.3217G>A (p.Val1073Ile) c.3214G>A (p.Val1072Ile) c.2923G>A (p.Val975Ile) | gnomAD v4 |
| 3 | g.38725195A>C | CA433138467 | SCN10A | c.3207T>G (p.Ser1069=) c.3204T>G (p.Ser1068=) c.3231T>G (p.Ser1077=) c.2913T>G (p.Ser971=) c.3216T>G (p.Ser1072=) c.3213T>G (p.Ser1071=) c.2922T>G (p.Ser974=) | |
| 3 | g.38725195A>G | CA433138469 | SCN10A | c.3207T>C (p.Ser1069=) c.3204T>C (p.Ser1068=) c.3231T>C (p.Ser1077=) c.2913T>C (p.Ser971=) c.3216T>C (p.Ser1072=) c.3213T>C (p.Ser1071=) c.2922T>C (p.Ser974=) | |
| 3 | g.38725195A>T | CA433138471 | SCN10A | c.3207T>A (p.Ser1069=) c.3204T>A (p.Ser1068=) c.3231T>A (p.Ser1077=) c.2913T>A (p.Ser971=) c.3216T>A (p.Ser1072=) c.3213T>A (p.Ser1071=) c.2922T>A (p.Ser974=) | |
| 3 | g.38725196G>A | CA352156617 | SCN10A | c.3206C>T (p.Ser1069Phe) c.3203C>T (p.Ser1068Phe) c.3230C>T (p.Ser1077Phe) c.2912C>T (p.Ser971Phe) c.3215C>T (p.Ser1072Phe) c.3212C>T (p.Ser1071Phe) c.2921C>T (p.Ser974Phe) | gnomAD v4 |
| 3 | g.38725196G>C | CA352156615 | SCN10A | c.3206C>G (p.Ser1069Cys) c.3203C>G (p.Ser1068Cys) c.3230C>G (p.Ser1077Cys) c.2912C>G (p.Ser971Cys) c.3215C>G (p.Ser1072Cys) c.3212C>G (p.Ser1071Cys) c.2921C>G (p.Ser974Cys) | |
| 3 | g.38725196G>T | CA352156616 | SCN10A | c.3206C>A (p.Ser1069Tyr) c.3203C>A (p.Ser1068Tyr) c.3230C>A (p.Ser1077Tyr) c.2912C>A (p.Ser971Tyr) c.3215C>A (p.Ser1072Tyr) c.3212C>A (p.Ser1071Tyr) c.2921C>A (p.Ser974Tyr) | |
| 3 | g.38725197A>C | CA352156618 | SCN10A | c.3205T>G (p.Ser1069Ala) c.3202T>G (p.Ser1068Ala) c.3229T>G (p.Ser1077Ala) c.2911T>G (p.Ser971Ala) c.3214T>G (p.Ser1072Ala) c.3211T>G (p.Ser1071Ala) c.2920T>G (p.Ser974Ala) |