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 |
|---|---|---|---|---|---|
| 15 | g.67184846G>A | CA392957298 | SMAD3 | c.406G>A (p.Val136Ile) c.676G>A (p.Val226Ile) c.991G>A (p.Val331Ile) n.694G>A c.859G>A (p.Val287Ile) c.557-2519G>A (n.557-2519G>A) n.283-8027G>A c.72G>A c.844G>A (p.Val282Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184846G>C | CA392957294 | SMAD3 | c.406G>C (p.Val136Leu) c.676G>C (p.Val226Leu) c.991G>C (p.Val331Leu) n.694G>C c.859G>C (p.Val287Leu) c.557-2519G>C (n.557-2519G>C) n.283-8027G>C c.72G>C c.844G>C (p.Val282Leu) | dbSNP |
| 15 | g.67184846G= | CA2184419391 | SMAD3 | c.406G= (p.Val136=) c.676G= (p.Val226=) c.991G= (p.Val331=) n.694G= c.859G= (p.Val287=) c.557-2519G= (n.557-2519G=) n.283-8027G= c.72G= c.844G= (p.Val282=) | |
| 15 | g.67184846G>T | CA392957297 | SMAD3 | c.406G>T (p.Val136Phe) c.676G>T (p.Val226Phe) c.991G>T (p.Val331Phe) n.694G>T c.859G>T (p.Val287Phe) c.557-2519G>T (n.557-2519G>T) n.283-8027G>T c.72G>T c.844G>T (p.Val282Phe) | ClinVar dbSNP |
| 15 | g.67184847T>A | CA392957301 | SMAD3 | c.407T>A (p.Val136Asp) c.677T>A (p.Val226Asp) c.992T>A (p.Val331Asp) n.695T>A c.860T>A (p.Val287Asp) c.557-2518T>A (n.557-2518T>A) n.283-8026T>A c.73T>A c.845T>A (p.Val282Asp) | ClinVar dbSNP |
| 15 | g.67184847T>C | CA392957302 | SMAD3 | c.407T>C (p.Val136Ala) c.677T>C (p.Val226Ala) c.992T>C (p.Val331Ala) n.695T>C c.860T>C (p.Val287Ala) c.557-2518T>C (n.557-2518T>C) n.283-8026T>C c.73T>C c.845T>C (p.Val282Ala) | |
| 15 | g.67184847T>G | CA392957305 | SMAD3 | c.407T>G (p.Val136Gly) c.677T>G (p.Val226Gly) c.992T>G (p.Val331Gly) n.695T>G c.860T>G (p.Val287Gly) c.557-2518T>G (n.557-2518T>G) n.283-8026T>G c.73T>G c.845T>G (p.Val282Gly) | |
| 15 | g.67184847T= | CA2184419399 | SMAD3 | c.407T= (p.Val136=) c.677T= (p.Val226=) c.992T= (p.Val331=) n.695T= c.860T= (p.Val287=) c.557-2518T= (n.557-2518T=) n.283-8026T= c.73T= c.845T= (p.Val282=) | |
| 15 | g.67184848C>A | CA490916612 | SMAD3 | c.408C>A (p.Val136=) c.678C>A (p.Val226=) c.993C>A (p.Val331=) n.696C>A c.861C>A (p.Val287=) c.557-2517C>A (n.557-2517C>A) n.283-8025C>A c.74C>A c.846C>A (p.Val282=) | |
| 15 | g.67184848C>G | CA490916613 | SMAD3 | c.408C>G (p.Val136=) c.678C>G (p.Val226=) c.993C>G (p.Val331=) n.696C>G c.861C>G (p.Val287=) c.557-2517C>G (n.557-2517C>G) n.283-8025C>G c.74C>G c.846C>G (p.Val282=) | |
| 15 | g.67184848C>T | CA490916614 | SMAD3 | c.408C>T (p.Val136=) c.678C>T (p.Val226=) c.993C>T (p.Val331=) n.696C>T c.861C>T (p.Val287=) c.557-2517C>T (n.557-2517C>T) n.283-8025C>T c.74C>T c.846C>T (p.Val282=) | gnomAD v4 |
| 15 | g.67184849T>A | CA392957308 | SMAD3 | c.409T>A (p.Cys137Ser) c.679T>A (p.Cys227Ser) c.994T>A (p.Cys332Ser) n.697T>A c.862T>A (p.Cys288Ser) c.557-2516T>A (n.557-2516T>A) n.283-8024T>A c.75T>A c.847T>A (p.Cys283Ser) | |
| 15 | g.67184849T>C | CA392957310 | SMAD3 | c.409T>C (p.Cys137Arg) c.679T>C (p.Cys227Arg) c.994T>C (p.Cys332Arg) n.697T>C c.862T>C (p.Cys288Arg) c.557-2516T>C (n.557-2516T>C) n.283-8024T>C c.75T>C c.847T>C (p.Cys283Arg) | ClinVar |
| 15 | g.67184849T>G | CA392957313 | SMAD3 | c.409T>G (p.Cys137Gly) c.679T>G (p.Cys227Gly) c.994T>G (p.Cys332Gly) n.697T>G c.862T>G (p.Cys288Gly) c.557-2516T>G (n.557-2516T>G) n.283-8024T>G c.75T>G c.847T>G (p.Cys283Gly) | |
| 15 | g.67184850G>A | CA392957314 | SMAD3 | c.410G>A (p.Cys137Tyr) c.680G>A (p.Cys227Tyr) c.995G>A (p.Cys332Tyr) n.698G>A c.863G>A (p.Cys288Tyr) c.557-2515G>A (n.557-2515G>A) n.283-8023G>A c.76G>A c.848G>A (p.Cys283Tyr) | dbSNP gnomAD v4 |
| 15 | g.67184850G>C | CA392957317 | SMAD3 | c.410G>C (p.Cys137Ser) c.680G>C (p.Cys227Ser) c.995G>C (p.Cys332Ser) n.698G>C c.863G>C (p.Cys288Ser) c.557-2515G>C (n.557-2515G>C) n.283-8023G>C c.76G>C c.848G>C (p.Cys283Ser) | |
| 15 | g.67184850G>T | CA392957318 | SMAD3 | c.410G>T (p.Cys137Phe) c.680G>T (p.Cys227Phe) c.995G>T (p.Cys332Phe) n.698G>T c.863G>T (p.Cys288Phe) c.557-2515G>T (n.557-2515G>T) n.283-8023G>T c.76G>T c.848G>T (p.Cys283Phe) | |
| 15 | g.67184851C>A | CA392957321 | SMAD3 | c.411C>A (p.Cys137Ter) c.681C>A (p.Cys227Ter) c.996C>A (p.Cys332Ter) n.699C>A c.864C>A (p.Cys288Ter) c.557-2514C>A (n.557-2514C>A) n.283-8022C>A c.77C>A c.849C>A (p.Cys283Ter) | |
| 15 | g.67184851C>G | CA392957323 | SMAD3 | c.411C>G (p.Cys137Trp) c.681C>G (p.Cys227Trp) c.996C>G (p.Cys332Trp) n.699C>G c.864C>G (p.Cys288Trp) c.557-2514C>G (n.557-2514C>G) n.283-8022C>G c.77C>G c.849C>G (p.Cys283Trp) | |
| 15 | g.67184851C>T | CA490916618 | SMAD3 | c.411C>T (p.Cys137=) c.681C>T (p.Cys227=) c.996C>T (p.Cys332=) n.699C>T c.864C>T (p.Cys288=) c.557-2514C>T (n.557-2514C>T) n.283-8022C>T c.77C>T c.849C>T (p.Cys283=) | dbSNP |
| 15 | g.67184852A>C | CA392957330 | SMAD3 | c.412A>C (p.Lys138Gln) c.682A>C (p.Lys228Gln) c.997A>C (p.Lys333Gln) n.700A>C c.865A>C (p.Lys289Gln) c.557-2513A>C (n.557-2513A>C) n.283-8021A>C c.78A>C c.850A>C (p.Lys284Gln) | |
| 15 | g.67184852A>G | CA392957329 | SMAD3 | c.412A>G (p.Lys138Glu) c.682A>G (p.Lys228Glu) c.997A>G (p.Lys333Glu) n.700A>G c.865A>G (p.Lys289Glu) c.557-2513A>G (n.557-2513A>G) n.283-8021A>G c.78A>G c.850A>G (p.Lys284Glu) | |
| 15 | g.67184852A>T | CA392957326 | SMAD3 | c.412A>T (p.Lys138Ter) c.682A>T (p.Lys228Ter) c.997A>T (p.Lys333Ter) n.700A>T c.865A>T (p.Lys289Ter) c.557-2513A>T (n.557-2513A>T) n.283-8021A>T c.78A>T c.850A>T (p.Lys284Ter) | |
| 15 | g.67184853A>C | CA392957333 | SMAD3 | c.413A>C (p.Lys138Thr) c.683A>C (p.Lys228Thr) c.998A>C (p.Lys333Thr) n.701A>C c.866A>C (p.Lys289Thr) c.557-2512A>C (n.557-2512A>C) n.283-8020A>C c.79A>C c.851A>C (p.Lys284Thr) | |
| 15 | g.67184853A>G | CA392957335 | SMAD3 | c.413A>G (p.Lys138Arg) c.683A>G (p.Lys228Arg) c.998A>G (p.Lys333Arg) n.701A>G c.866A>G (p.Lys289Arg) c.557-2512A>G (n.557-2512A>G) n.283-8020A>G c.79A>G c.851A>G (p.Lys284Arg) | |
| 15 | g.67184853A>T | CA392957337 | SMAD3 | c.413A>T (p.Lys138Met) c.683A>T (p.Lys228Met) c.998A>T (p.Lys333Met) n.701A>T c.866A>T (p.Lys289Met) c.557-2512A>T (n.557-2512A>T) n.283-8020A>T c.79A>T c.851A>T (p.Lys284Met) | |
| 15 | g.67184854G>A | CA062881 | SMAD3 | c.414G>A (p.Lys138=) c.684G>A (p.Lys228=) c.999G>A (p.Lys333=) n.702G>A c.867G>A (p.Lys289=) c.557-2511G>A (n.557-2511G>A) n.283-8019G>A c.80G>A c.852G>A (p.Lys284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67184854G>C | CA392957342 | SMAD3 | c.414G>C (p.Lys138Asn) c.684G>C (p.Lys228Asn) c.999G>C (p.Lys333Asn) n.702G>C c.867G>C (p.Lys289Asn) c.557-2511G>C (n.557-2511G>C) n.283-8019G>C c.80G>C c.852G>C (p.Lys284Asn) | |
| 15 | g.67184854G= | CA2184419402 | SMAD3 | c.414G= (p.Lys138=) c.684G= (p.Lys228=) c.999G= (p.Lys333=) n.702G= c.867G= (p.Lys289=) c.557-2511G= (n.557-2511G=) n.283-8019G= c.80G= c.852G= (p.Lys284=) | |
| 15 | g.67184854G>T | CA392957343 | SMAD3 | c.414G>T (p.Lys138Asn) c.684G>T (p.Lys228Asn) c.999G>T (p.Lys333Asn) n.702G>T c.867G>T (p.Lys289Asn) c.557-2511G>T (n.557-2511G>T) n.283-8019G>T c.80G>T c.852G>T (p.Lys284Asn) | |
| 15 | g.67184855A>C | CA392957346 | SMAD3 | c.415A>C (p.Ile139Leu) c.685A>C (p.Ile229Leu) c.1000A>C (p.Ile334Leu) n.703A>C c.868A>C (p.Ile290Leu) c.557-2510A>C (n.557-2510A>C) n.283-8018A>C c.81A>C c.853A>C (p.Ile285Leu) | |
| 15 | g.67184855A>G | CA392957349 | SMAD3 | c.415A>G (p.Ile139Val) c.685A>G (p.Ile229Val) c.1000A>G (p.Ile334Val) n.703A>G c.868A>G (p.Ile290Val) c.557-2510A>G (n.557-2510A>G) n.283-8018A>G c.81A>G c.853A>G (p.Ile285Val) | |
| 15 | g.67184855A>T | CA392957350 | SMAD3 | c.415A>T (p.Ile139Phe) c.685A>T (p.Ile229Phe) c.1000A>T (p.Ile334Phe) n.703A>T c.868A>T (p.Ile290Phe) c.557-2510A>T (n.557-2510A>T) n.283-8018A>T c.81A>T c.853A>T (p.Ile285Phe) | |
| 15 | g.67184856T>A | CA392957354 | SMAD3 | c.416T>A (p.Ile139Asn) c.686T>A (p.Ile229Asn) c.1001T>A (p.Ile334Asn) n.704T>A c.869T>A (p.Ile290Asn) c.557-2509T>A (n.557-2509T>A) n.283-8017T>A c.82T>A c.854T>A (p.Ile285Asn) | ClinVar |
| 15 | g.67184856T>C | CA392957356 | SMAD3 | c.416T>C (p.Ile139Thr) c.686T>C (p.Ile229Thr) c.1001T>C (p.Ile334Thr) n.704T>C c.869T>C (p.Ile290Thr) c.557-2509T>C (n.557-2509T>C) n.283-8017T>C c.82T>C c.854T>C (p.Ile285Thr) | |
| 15 | g.67184856T>G | CA392957359 | SMAD3 | c.416T>G (p.Ile139Ser) c.686T>G (p.Ile229Ser) c.1001T>G (p.Ile334Ser) n.704T>G c.869T>G (p.Ile290Ser) c.557-2509T>G (n.557-2509T>G) n.283-8017T>G c.82T>G c.854T>G (p.Ile285Ser) | |
| 15 | g.67184857C>A | CA061477 | SMAD3 | c.417C>A (p.Ile139=) c.687C>A (p.Ile229=) c.1002C>A (p.Ile334=) n.705C>A c.870C>A (p.Ile290=) c.557-2508C>A (n.557-2508C>A) n.283-8016C>A c.83C>A c.855C>A (p.Ile285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67184857C= | CA2184419406 | SMAD3 | c.417C= (p.Ile139=) c.687C= (p.Ile229=) c.1002C= (p.Ile334=) n.705C= c.870C= (p.Ile290=) c.557-2508C= (n.557-2508C=) n.283-8016C= c.83C= c.855C= (p.Ile285=) | |
| 15 | g.67184857C>G | CA392957361 | SMAD3 | c.417C>G (p.Ile139Met) c.687C>G (p.Ile229Met) c.1002C>G (p.Ile334Met) n.705C>G c.870C>G (p.Ile290Met) c.557-2508C>G (n.557-2508C>G) n.283-8016C>G c.83C>G c.855C>G (p.Ile285Met) | |
| 15 | g.67184857C>T | CA490916637 | SMAD3 | c.417C>T (p.Ile139=) c.687C>T (p.Ile229=) c.1002C>T (p.Ile334=) n.705C>T c.870C>T (p.Ile290=) c.557-2508C>T (n.557-2508C>T) n.283-8016C>T c.83C>T c.855C>T (p.Ile285=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184858C>A | CA392957365 | SMAD3 | c.418C>A (p.Pro140Thr) c.688C>A (p.Pro230Thr) c.1003C>A (p.Pro335Thr) n.706C>A c.871C>A (p.Pro291Thr) c.557-2507C>A (n.557-2507C>A) n.283-8015C>A c.84C>A c.856C>A (p.Pro286Thr) | |
| 15 | g.67184858C>G | CA392957368 | SMAD3 | c.418C>G (p.Pro140Ala) c.688C>G (p.Pro230Ala) c.1003C>G (p.Pro335Ala) n.706C>G c.871C>G (p.Pro291Ala) c.557-2507C>G (n.557-2507C>G) n.283-8015C>G c.84C>G c.856C>G (p.Pro286Ala) | |
| 15 | g.67184858C>T | CA392957371 | SMAD3 | c.418C>T (p.Pro140Ser) c.688C>T (p.Pro230Ser) c.1003C>T (p.Pro335Ser) n.706C>T c.871C>T (p.Pro291Ser) c.557-2507C>T (n.557-2507C>T) n.283-8015C>T c.84C>T c.856C>T (p.Pro286Ser) | |
| 15 | g.67184859C>A | CA392957373 | SMAD3 | c.419C>A (p.Pro140Gln) c.689C>A (p.Pro230Gln) c.1004C>A (p.Pro335Gln) n.707C>A c.872C>A (p.Pro291Gln) c.557-2506C>A (n.557-2506C>A) n.283-8014C>A c.85C>A c.857C>A (p.Pro286Gln) | |
| 15 | g.67184859C>G | CA392957376 | SMAD3 | c.419C>G (p.Pro140Arg) c.689C>G (p.Pro230Arg) c.1004C>G (p.Pro335Arg) n.707C>G c.872C>G (p.Pro291Arg) c.557-2506C>G (n.557-2506C>G) n.283-8014C>G c.85C>G c.857C>G (p.Pro286Arg) | |
| 15 | g.67184859C>T | CA392957379 | SMAD3 | c.419C>T (p.Pro140Leu) c.689C>T (p.Pro230Leu) c.1004C>T (p.Pro335Leu) n.707C>T c.872C>T (p.Pro291Leu) c.557-2506C>T (n.557-2506C>T) n.283-8014C>T c.85C>T c.857C>T (p.Pro286Leu) | |
| 15 | g.67184860A= | CA2184419413 | SMAD3 | c.420A= (p.Pro140=) c.690A= (p.Pro230=) c.1005A= (p.Pro335=) n.708A= c.873A= (p.Pro291=) c.557-2505A= (n.557-2505A=) n.283-8013A= c.86A= c.858A= (p.Pro286=) | |
| 15 | g.67184860A>C | CA272394184 | SMAD3 | c.420A>C (p.Pro140=) c.690A>C (p.Pro230=) c.1005A>C (p.Pro335=) n.708A>C c.873A>C (p.Pro291=) c.557-2505A>C (n.557-2505A>C) n.283-8013A>C c.86A>C c.858A>C (p.Pro286=) | dbSNP gnomAD v4 |
| 15 | g.67184860A>G | CA490916651 | SMAD3 | c.420A>G (p.Pro140=) c.690A>G (p.Pro230=) c.1005A>G (p.Pro335=) n.708A>G c.873A>G (p.Pro291=) c.557-2505A>G (n.557-2505A>G) n.283-8013A>G c.86A>G c.858A>G (p.Pro286=) | ClinVar dbSNP |
| 15 | g.67184860A>T | CA490916663 | SMAD3 | c.420A>T (p.Pro140=) c.690A>T (p.Pro230=) c.1005A>T (p.Pro335=) n.708A>T c.873A>T (p.Pro291=) c.557-2505A>T (n.557-2505A>T) n.283-8013A>T c.86A>T c.858A>T (p.Pro286=) |