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.149980657_149980658insAAAAA | CA2573139275 | SLC26A2 | c.1064_1065insAAAAA (p.Asn355LysfsTer26) c.372+2306_372+2307insAAAAA (n.372+2306_372+2307insAAAAA) | ClinVar dbSNP |
| 5 | g.149980655A>C | CA361707064 | SLC26A2 | c.1062A>C (p.Glu354Asp) c.372+2304A>C (n.372+2304A>C) | |
| 5 | g.149980655A>G | CA447402288 | SLC26A2 | c.1062A>G (p.Glu354=) c.372+2304A>G (n.372+2304A>G) | |
| 5 | g.149980655A>T | CA361707065 | SLC26A2 | c.1062A>T (p.Glu354Asp) c.372+2304A>T (n.372+2304A>T) | |
| 5 | g.149980656A>C | CA361707068 | SLC26A2 | c.1063A>C (p.Asn355His) c.372+2305A>C (n.372+2305A>C) | |
| 5 | g.149980656A>G | CA361707067 | SLC26A2 | c.1063A>G (p.Asn355Asp) c.372+2305A>G (n.372+2305A>G) | |
| 5 | g.149980656A>T | CA361707066 | SLC26A2 | c.1063A>T (p.Asn355Tyr) c.372+2305A>T (n.372+2305A>T) | |
| 5 | g.149980657A>C | CA361707070 | SLC26A2 | c.1064A>C (p.Asn355Thr) c.372+2306A>C (n.372+2306A>C) | |
| 5 | g.149980657A>G | CA361707069 | SLC26A2 | c.1064A>G (p.Asn355Ser) c.372+2306A>G (n.372+2306A>G) | |
| 5 | g.149980657A>T | CA361707071 | SLC26A2 | c.1064A>T (p.Asn355Ile) c.372+2306A>T (n.372+2306A>T) | |
| 5 | g.149980658T>A | CA361707072 | SLC26A2 | c.1065T>A (p.Asn355Lys) c.372+2307T>A (n.372+2307T>A) | |
| 5 | g.149980658T>C | CA447402290 | SLC26A2 | c.1065T>C (p.Asn355=) c.372+2307T>C (n.372+2307T>C) | |
| 5 | g.149980658T>G | CA361707073 | SLC26A2 | c.1065T>G (p.Asn355Lys) c.372+2307T>G (n.372+2307T>G) | |
| 5 | g.149980659T>A | CA361707074 | SLC26A2 | c.1066T>A (p.Tyr356Asn) c.372+2308T>A (n.372+2308T>A) | |
| 5 | g.149980659T>C | CA361707075 | SLC26A2 | c.1066T>C (p.Tyr356His) c.372+2308T>C (n.372+2308T>C) | |
| 5 | g.149980659T>G | CA361707076 | SLC26A2 | c.1066T>G (p.Tyr356Asp) c.372+2308T>G (n.372+2308T>G) | |
| 5 | g.149980660A= | CA1590738471 | SLC26A2 | c.1067A= (p.Tyr356=) c.372+2309A= (n.372+2309A=) | |
| 5 | g.149980660A>C | CA361707077 | SLC26A2 | c.1067A>C (p.Tyr356Ser) c.372+2309A>C (n.372+2309A>C) | |
| 5 | g.149980660A>G | CA3505381 | SLC26A2 | c.1067A>G (p.Tyr356Cys) c.372+2309A>G (n.372+2309A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980660A>T | CA361707078 | SLC26A2 | c.1067A>T (p.Tyr356Phe) c.372+2309A>T (n.372+2309A>T) | |
| 5 | g.149980661T>A | CA361707079 | SLC26A2 | c.1068T>A (p.Tyr356Ter) c.372+2310T>A (n.372+2310T>A) | |
| 5 | g.149980661T>C | CA447402294 | SLC26A2 | c.1068T>C (p.Tyr356=) c.372+2310T>C (n.372+2310T>C) | |
| 5 | g.149980661T>G | CA361707080 | SLC26A2 | c.1068T>G (p.Tyr356Ter) c.372+2310T>G (n.372+2310T>G) | |
| 5 | g.149980662A>C | CA361707081 | SLC26A2 | c.1069A>C (p.Asn357His) c.372+2311A>C (n.372+2311A>C) | |
| 5 | g.149980662A>G | CA361707082 | SLC26A2 | c.1069A>G (p.Asn357Asp) c.372+2311A>G (n.372+2311A>G) | gnomAD v4 |
| 5 | g.149980662A>T | CA361707083 | SLC26A2 | c.1069A>T (p.Asn357Tyr) c.372+2311A>T (n.372+2311A>T) | |
| 5 | g.149980663del | CA2675943643 | SLC26A2 | c.1070del (p.Asn357IlefsTer22) c.372+2312del (n.372+2312del) | gnomAD v4 |
| 5 | g.149980663A>C | CA361707086 | SLC26A2 | c.1070A>C (p.Asn357Thr) c.372+2312A>C (n.372+2312A>C) | |
| 5 | g.149980663A>G | CA361707084 | SLC26A2 | c.1070A>G (p.Asn357Ser) c.372+2312A>G (n.372+2312A>G) | |
| 5 | g.149980663A>T | CA361707085 | SLC26A2 | c.1070A>T (p.Asn357Ile) c.372+2312A>T (n.372+2312A>T) | |
| 5 | g.149980664T>A | CA361707087 | SLC26A2 | c.1071T>A (p.Asn357Lys) c.372+2313T>A (n.372+2313T>A) | |
| 5 | g.149980664T>C | CA447402296 | SLC26A2 | c.1071T>C (p.Asn357=) c.372+2313T>C (n.372+2313T>C) | |
| 5 | g.149980664T>G | CA361707088 | SLC26A2 | c.1071T>G (p.Asn357Lys) c.372+2313T>G (n.372+2313T>G) | |
| 5 | g.149980665T>A | CA361707089 | SLC26A2 | c.1072T>A (p.Ser358Thr) c.372+2314T>A (n.372+2314T>A) | |
| 5 | g.149980665T>C | CA361707090 | SLC26A2 | c.1072T>C (p.Ser358Pro) c.372+2314T>C (n.372+2314T>C) | |
| 5 | g.149980665T>G | CA361707091 | SLC26A2 | c.1072T>G (p.Ser358Ala) c.372+2314T>G (n.372+2314T>G) | |
| 5 | g.149980666C>A | CA3505382 | SLC26A2 | c.1073C>A (p.Ser358Tyr) c.372+2315C>A (n.372+2315C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980666C= | CA1590738472 | SLC26A2 | c.1073C= (p.Ser358=) c.372+2315C= (n.372+2315C=) | |
| 5 | g.149980666C>G | CA361707092 | SLC26A2 | c.1073C>G (p.Ser358Cys) c.372+2315C>G (n.372+2315C>G) | |
| 5 | g.149980666C>T | CA361707093 | SLC26A2 | c.1073C>T (p.Ser358Phe) c.372+2315C>T (n.372+2315C>T) | ClinVar dbSNP |
| 5 | g.149980667T>A | CA447402301 | SLC26A2 | c.1074T>A (p.Ser358=) c.372+2316T>A (n.372+2316T>A) | |
| 5 | g.149980667T>C | CA447402302 | SLC26A2 | c.1074T>C (p.Ser358=) c.372+2316T>C (n.372+2316T>C) | |
| 5 | g.149980667T>G | CA447402303 | SLC26A2 | c.1074T>G (p.Ser358=) c.372+2316T>G (n.372+2316T>G) | |
| 5 | g.149980668A= | CA1590738473 | SLC26A2 | c.1075A= (p.Ser359=) c.372+2317A= (n.372+2317A=) | |
| 5 | g.149980668A>C | CA361707094 | SLC26A2 | c.1075A>C (p.Ser359Arg) c.372+2317A>C (n.372+2317A>C) | |
| 5 | g.149980668A>G | CA361707095 | SLC26A2 | c.1075A>G (p.Ser359Gly) c.372+2317A>G (n.372+2317A>G) | dbSNP |
| 5 | g.149980668A>T | CA361707096 | SLC26A2 | c.1075A>T (p.Ser359Cys) c.372+2317A>T (n.372+2317A>T) | |
| 5 | g.149980669G>A | CA361707099 | SLC26A2 | c.1076G>A (p.Ser359Asn) c.372+2318G>A (n.372+2318G>A) | gnomAD v4 |
| 5 | g.149980669G>C | CA361707098 | SLC26A2 | c.1076G>C (p.Ser359Thr) c.372+2318G>C (n.372+2318G>C) | |
| 5 | g.149980669G>T | CA361707097 | SLC26A2 | c.1076G>T (p.Ser359Ile) c.372+2318G>T (n.372+2318G>T) |