Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107690211_107690212delinsCA | CA1732748441 | SLC26A4 | c.1237_1238delinsCA (p.Gln413=) | |
7 | g.107690212del | CA16041108 | SLC26A4 | c.1238del (p.Gln413ArgfsTer19) c.1238del (p.Gln413ArgfsTer30) c.1238del (p.Gln413ArgfsTer16) | ClinVar dbSNP |
7 | g.107690212A= | CA1732748448 | SLC26A4 | c.1238A= (p.Gln413=) | |
7 | g.107690212A>C | CA368839287 | SLC26A4 | c.1238A>C (p.Gln413Pro) | ClinVar |
7 | g.107690212A>G | CA4432728 | SLC26A4 | c.1238A>G (p.Gln413Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107690212A>T | CA368839288 | SLC26A4 | c.1238A>T (p.Gln413Leu) | ClinVar |
7 | g.107690213G>A | CA457090913 | SLC26A4 | c.1239G>A (p.Gln413=) | |
7 | g.107690213G>C | CA164211128 | SLC26A4 | c.1239G>C (p.Gln413His) | dbSNP gnomAD v4 |
7 | g.107690213G= | CA1732748453 | SLC26A4 | c.1239G= (p.Gln413=) | |
7 | g.107690213G>T | CA368839289 | SLC26A4 | c.1239G>T (p.Gln413His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107690214G>A | CA368839290 | SLC26A4 | c.1240G>A (p.Glu414Lys) | |
7 | g.107690214G>C | CA4432729 | SLC26A4 | c.1240G>C (p.Glu414Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107690214G= | CA1732748457 | SLC26A4 | c.1240G= (p.Glu414=) | |
7 | g.107690214G>T | CA368839291 | SLC26A4 | c.1240G>T (p.Glu414Ter) | |
7 | g.107690214_107690217delinsAAAG | CA2695203124 | SLC26A4 | c.1240_1243delinsAAAG (p.Glu414_Ser415delinsLysGly) | |
7 | g.107690215A>C | CA368839294 | SLC26A4 | c.1241A>C (p.Glu414Ala) | COSMIC |
7 | g.107690215A>G | CA368839292 | SLC26A4 | c.1241A>G (p.Glu414Gly) | |
7 | g.107690215A>T | CA368839293 | SLC26A4 | c.1241A>T (p.Glu414Val) | |
7 | g.107690216G>A | CA457090931 | SLC26A4 | c.1242G>A (p.Glu414=) | |
7 | g.107690216G>C | CA368839295 | SLC26A4 | c.1242G>C (p.Glu414Asp) | |
7 | g.107690216G>T | CA368839296 | SLC26A4 | c.1242G>T (p.Glu414Asp) | |
7 | g.107690217A= | CA1732748461 | SLC26A4 | c.1243A= (p.Ser415=) | |
7 | g.107690217A>C | CA368839297 | SLC26A4 | c.1243A>C (p.Ser415Arg) | |
7 | g.107690217A>G | CA4432730 | SLC26A4 | c.1243A>G (p.Ser415Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107690217A>T | CA368839298 | SLC26A4 | c.1243A>T (p.Ser415Cys) | |
7 | g.107690218G>A | CA368839299 | SLC26A4 | c.1244G>A (p.Ser415Asn) | gnomAD v4 |
7 | g.107690218G>C | CA368839300 | SLC26A4 | c.1244G>C (p.Ser415Thr) | |
7 | g.107690218G>T | CA368839301 | SLC26A4 | c.1244G>T (p.Ser415Ile) | |
7 | g.107690219C>A | CA368839302 | SLC26A4 | c.1245C>A (p.Ser415Arg) | gnomAD v4 |
7 | g.107690219C>G | CA368839303 | SLC26A4 | c.1245C>G (p.Ser415Arg) | gnomAD v4 |
7 | g.107690219C>T | CA457090948 | SLC26A4 | c.1245C>T (p.Ser415=) | gnomAD v4 |
7 | g.107690220A= | CA1732748465 | SLC26A4 | c.1246A= (p.Thr416=) | |
7 | g.107690220A>C | CA261404 | SLC26A4 | c.1246A>C (p.Thr416Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107690220A>G | CA368839304 | SLC26A4 | c.1246A>G (p.Thr416Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107690220A>T | CA368839305 | SLC26A4 | c.1246A>T (p.Thr416Ser) | |
7 | g.107690221C>A | CA368839307 | SLC26A4 | c.1247C>A (p.Thr416Asn) | gnomAD v4 |
7 | g.107690221C>G | CA368839308 | SLC26A4 | c.1247C>G (p.Thr416Ser) | |
7 | g.107690221C>T | CA368839306 | SLC26A4 | c.1247C>T (p.Thr416Ile) | |
7 | g.107690222T>A | CA457090973 | SLC26A4 | c.1248T>A (p.Thr416=) | |
7 | g.107690222T>C | CA457090978 | SLC26A4 | c.1248T>C (p.Thr416=) | |
7 | g.107690222T>G | CA457090975 | SLC26A4 | c.1248T>G (p.Thr416=) | |
7 | g.107690223G>A | CA368839310 | SLC26A4 | c.1249G>A (p.Gly417Arg) | |
7 | g.107690223G>C | CA368839309 | SLC26A4 | c.1249G>C (p.Gly417Arg) | |
7 | g.107690223G>T | CA368839311 | SLC26A4 | c.1249G>T (p.Gly417Ter) | |
7 | g.107690224G>A | CA368839312 | SLC26A4 | c.1250G>A (p.Gly417Glu) | |
7 | g.107690224G>C | CA368839314 | SLC26A4 | c.1250G>C (p.Gly417Ala) | dbSNP |
7 | g.107690224G= | CA1732748469 | SLC26A4 | c.1250G= (p.Gly417=) | |
7 | g.107690224G>T | CA368839313 | SLC26A4 | c.1250G>T (p.Gly417Val) | |
7 | g.107690225A>C | CA457090999 | SLC26A4 | c.1251A>C (p.Gly417=) | gnomAD v4 |
7 | g.107690225A>G | CA457091001 | SLC26A4 | c.1251A>G (p.Gly417=) | gnomAD v4 |