| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980766C>A | CA447402423 | SLC26A2 | c.1173C>A (p.Ile391=) c.372+2415C>A (n.372+2415C>A) | |
| 5 | g.149980766C>G | CA361707301 | SLC26A2 | c.1173C>G (p.Ile391Met) c.372+2415C>G (n.372+2415C>G) | |
| 5 | g.149980766C>T | CA447402424 | SLC26A2 | c.1173C>T (p.Ile391=) c.372+2415C>T (n.372+2415C>T) | |
| 5 | g.149980767A= | CA1590738514 | SLC26A2 | c.1174A= (p.Ile392=) c.372+2416A= (n.372+2416A=) | |
| 5 | g.149980767A>C | CA361707302 | SLC26A2 | c.1174A>C (p.Ile392Leu) c.372+2416A>C (n.372+2416A>C) | |
| 5 | g.149980767A>G | CA361707303 | SLC26A2 | c.1174A>G (p.Ile392Val) c.372+2416A>G (n.372+2416A>G) | dbSNP |
| 5 | g.149980767A>T | CA361707304 | SLC26A2 | c.1174A>T (p.Ile392Phe) c.372+2416A>T (n.372+2416A>T) | |
| 5 | g.149980768T>A | CA361707305 | SLC26A2 | c.1175T>A (p.Ile392Asn) c.372+2417T>A (n.372+2417T>A) | |
| 5 | g.149980768T>C | CA3505398 | SLC26A2 | c.1175T>C (p.Ile392Thr) c.372+2417T>C (n.372+2417T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980768T>G | CA361707306 | SLC26A2 | c.1175T>G (p.Ile392Ser) c.372+2417T>G (n.372+2417T>G) | |
| 5 | g.149980768T= | CA1590738515 | SLC26A2 | c.1175T= (p.Ile392=) c.372+2417T= (n.372+2417T=) | |
| 5 | g.149980769T>A | CA447402427 | SLC26A2 | c.1176T>A (p.Ile392=) c.372+2418T>A (n.372+2418T>A) | |
| 5 | g.149980769T>C | CA447402429 | SLC26A2 | c.1176T>C (p.Ile392=) c.372+2418T>C (n.372+2418T>C) | |
| 5 | g.149980769T>G | CA361707307 | SLC26A2 | c.1176T>G (p.Ile392Met) c.372+2418T>G (n.372+2418T>G) | |
| 5 | g.149980770G>A | CA361707310 | SLC26A2 | c.1177G>A (p.Gly393Ser) c.372+2419G>A (n.372+2419G>A) | |
| 5 | g.149980770G>C | CA361707308 | SLC26A2 | c.1177G>C (p.Gly393Arg) c.372+2419G>C (n.372+2419G>C) | |
| 5 | g.149980770G>T | CA361707309 | SLC26A2 | c.1177G>T (p.Gly393Cys) c.372+2419G>T (n.372+2419G>T) | COSMIC |
| 5 | g.149980771G>A | CA243100 | SLC26A2 | c.1178G>A (p.Gly393Asp) c.372+2420G>A (n.372+2420G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980771G>C | CA361707311 | SLC26A2 | c.1178G>C (p.Gly393Ala) c.372+2420G>C (n.372+2420G>C) | |
| 5 | g.149980771G= | CA1590738516 | SLC26A2 | c.1178G= (p.Gly393=) c.372+2420G= (n.372+2420G=) | |
| 5 | g.149980771G>T | CA361707312 | SLC26A2 | c.1178G>T (p.Gly393Val) c.372+2420G>T (n.372+2420G>T) | COSMIC |
| 5 | g.149980772T>A | CA447402431 | SLC26A2 | c.1179T>A (p.Gly393=) c.372+2421T>A (n.372+2421T>A) | |
| 5 | g.149980772T>C | CA447402432 | SLC26A2 | c.1179T>C (p.Gly393=) c.372+2421T>C (n.372+2421T>C) | |
| 5 | g.149980772T>G | CA447402435 | SLC26A2 | c.1179T>G (p.Gly393=) c.372+2421T>G (n.372+2421T>G) | |
| 5 | g.149980773T>A | CA361707313 | SLC26A2 | c.1180T>A (p.Phe394Ile) c.372+2422T>A (n.372+2422T>A) | |
| 5 | g.149980773T>C | CA361707314 | SLC26A2 | c.1180T>C (p.Phe394Leu) c.372+2422T>C (n.372+2422T>C) | |
| 5 | g.149980773T>G | CA361707315 | SLC26A2 | c.1180T>G (p.Phe394Val) c.372+2422T>G (n.372+2422T>G) | |
| 5 | g.149980774T>A | CA361707316 | SLC26A2 | c.1181T>A (p.Phe394Tyr) c.372+2423T>A (n.372+2423T>A) | |
| 5 | g.149980774T>C | CA361707317 | SLC26A2 | c.1181T>C (p.Phe394Ser) c.372+2423T>C (n.372+2423T>C) | |
| 5 | g.149980774T>G | CA361707318 | SLC26A2 | c.1181T>G (p.Phe394Cys) c.372+2423T>G (n.372+2423T>G) | |
| 5 | g.149980775T>A | CA361707319 | SLC26A2 | c.1182T>A (p.Phe394Leu) c.372+2424T>A (n.372+2424T>A) | |
| 5 | g.149980775T>C | CA447402440 | SLC26A2 | c.1182T>C (p.Phe394=) c.372+2424T>C (n.372+2424T>C) | |
| 5 | g.149980775T>G | CA361707320 | SLC26A2 | c.1182T>G (p.Phe394Leu) c.372+2424T>G (n.372+2424T>G) | |
| 5 | g.149980776G>A | CA361707321 | SLC26A2 | c.1183G>A (p.Ala395Thr) c.372+2425G>A (n.372+2425G>A) | |
| 5 | g.149980776G>C | CA361707322 | SLC26A2 | c.1183G>C (p.Ala395Pro) c.372+2425G>C (n.372+2425G>C) | |
| 5 | g.149980776G= | CA1590738517 | SLC26A2 | c.1183G= (p.Ala395=) c.372+2425G= (n.372+2425G=) | |
| 5 | g.149980776G>T | CA3505399 | SLC26A2 | c.1183G>T (p.Ala395Ser) c.372+2425G>T (n.372+2425G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980777C>A | CA361707323 | SLC26A2 | c.1184C>A (p.Ala395Asp) c.372+2426C>A (n.372+2426C>A) | |
| 5 | g.149980777C>G | CA361707324 | SLC26A2 | c.1184C>G (p.Ala395Gly) c.372+2426C>G (n.372+2426C>G) | |
| 5 | g.149980777C>T | CA361707325 | SLC26A2 | c.1184C>T (p.Ala395Val) c.372+2426C>T (n.372+2426C>T) | |
| 5 | g.149980778T>A | CA447402441 | SLC26A2 | c.1185T>A (p.Ala395=) c.372+2427T>A (n.372+2427T>A) | |
| 5 | g.149980778T>C | CA447402444 | SLC26A2 | c.1185T>C (p.Ala395=) c.372+2427T>C (n.372+2427T>C) | |
| 5 | g.149980778T>G | CA447402442 | SLC26A2 | c.1185T>G (p.Ala395=) c.372+2427T>G (n.372+2427T>G) | |
| 5 | g.149980778T= | CA1590738518 | SLC26A2 | c.1185T= (p.Ala395=) c.372+2427T= (n.372+2427T=) | |
| 5 | g.149980779del | CA2675943645 | SLC26A2 | c.1186del (p.Ile396SerfsTer?) c.372+2428del (n.372+2428del) | gnomAD v4 |
| 5 | g.149980779A= | CA1590738519 | SLC26A2 | c.1186A= (p.Ile396=) c.372+2428A= (n.372+2428A=) | |
| 5 | g.149980779A>C | CA361707326 | SLC26A2 | c.1186A>C (p.Ile396Leu) c.372+2428A>C (n.372+2428A>C) | gnomAD v4 |
| 5 | g.149980779A>G | CA361707327 | SLC26A2 | c.1186A>G (p.Ile396Val) c.372+2428A>G (n.372+2428A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980779A>T | CA361707328 | SLC26A2 | c.1186A>T (p.Ile396Phe) c.372+2428A>T (n.372+2428A>T) | |
| 5 | g.149980779dup | CA3505400 | SLC26A2 | c.1186dup (p.Ile396AsnfsTer7) c.372+2428dup (n.372+2428dup) | dbSNP ExAC |