Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102532552T>A | CA347952001 | SLC9A4 | c.2261T>A (p.Val754Glu) c.2174T>A (p.Val725Glu) | |
2 | g.102532552T>C | CA347952002 | SLC9A4 | c.2261T>C (p.Val754Ala) c.2174T>C (p.Val725Ala) | gnomAD v4 |
2 | g.102532552T>G | CA347952003 | SLC9A4 | c.2261T>G (p.Val754Gly) c.2174T>G (p.Val725Gly) | |
2 | g.102532553G>A | CA427841209 | SLC9A4 | c.2262G>A (p.Val754=) c.2175G>A (p.Val725=) | |
2 | g.102532553G>C | CA427841215 | SLC9A4 | c.2262G>C (p.Val754=) c.2175G>C (p.Val725=) | |
2 | g.102532553G>T | CA427841222 | SLC9A4 | c.2262G>T (p.Val754=) c.2175G>T (p.Val725=) | |
2 | g.102532554G>A | CA347952004 | SLC9A4 | c.2263G>A (p.Asp755Asn) c.2176G>A (p.Asp726Asn) | |
2 | g.102532554G>C | CA347952005 | SLC9A4 | c.2263G>C (p.Asp755His) c.2176G>C (p.Asp726His) | |
2 | g.102532554G= | CA1275308227 | SLC9A4 | c.2263G= (p.Asp755=) c.2176G= (p.Asp726=) | |
2 | g.102532554G>T | CA347952006 | SLC9A4 | c.2263G>T (p.Asp755Tyr) c.2176G>T (p.Asp726Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.102532555A= | CA1275308228 | SLC9A4 | c.2264A= (p.Asp755=) c.2177A= (p.Asp726=) | |
2 | g.102532555A>C | CA1811407 | SLC9A4 | c.2264A>C (p.Asp755Ala) c.2177A>C (p.Asp726Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532555A>G | CA347952007 | SLC9A4 | c.2264A>G (p.Asp755Gly) c.2177A>G (p.Asp726Gly) | |
2 | g.102532555A>T | CA52947254 | SLC9A4 | c.2264A>T (p.Asp755Val) c.2177A>T (p.Asp726Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102532556T>A | CA347952008 | SLC9A4 | c.2265T>A (p.Asp755Glu) c.2178T>A (p.Asp726Glu) | |
2 | g.102532556T>C | CA427841238 | SLC9A4 | c.2265T>C (p.Asp755=) c.2178T>C (p.Asp726=) | |
2 | g.102532556T>G | CA347952009 | SLC9A4 | c.2265T>G (p.Asp755Glu) c.2178T>G (p.Asp726Glu) | gnomAD v4 |
2 | g.102532557G>A | CA1811408 | SLC9A4 | c.2266G>A (p.Glu756Lys) c.2179G>A (p.Glu727Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.102532557G>C | CA347952010 | SLC9A4 | c.2266G>C (p.Glu756Gln) c.2179G>C (p.Glu727Gln) | |
2 | g.102532557G= | CA1275308229 | SLC9A4 | c.2266G= (p.Glu756=) c.2179G= (p.Glu727=) | |
2 | g.102532557G>T | CA347952011 | SLC9A4 | c.2266G>T (p.Glu756Ter) c.2179G>T (p.Glu727Ter) | |
2 | g.102532558A>C | CA347952012 | SLC9A4 | c.2267A>C (p.Glu756Ala) c.2180A>C (p.Glu727Ala) | |
2 | g.102532558A>G | CA347952013 | SLC9A4 | c.2267A>G (p.Glu756Gly) c.2180A>G (p.Glu727Gly) | |
2 | g.102532558A>T | CA347952014 | SLC9A4 | c.2267A>T (p.Glu756Val) c.2180A>T (p.Glu727Val) | |
2 | g.102532559G>A | CA427841258 | SLC9A4 | c.2268G>A (p.Glu756=) c.2181G>A (p.Glu727=) | |
2 | g.102532559G>C | CA347952015 | SLC9A4 | c.2268G>C (p.Glu756Asp) c.2181G>C (p.Glu727Asp) | |
2 | g.102532559G>T | CA347952016 | SLC9A4 | c.2268G>T (p.Glu756Asp) c.2181G>T (p.Glu727Asp) | |
2 | g.102532560G>A | CA1811409 | SLC9A4 | c.2269G>A (p.Glu757Lys) c.2182G>A (p.Glu728Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532560G>C | CA347952017 | SLC9A4 | c.2269G>C (p.Glu757Gln) c.2182G>C (p.Glu728Gln) | |
2 | g.102532560G= | CA1275308230 | SLC9A4 | c.2269G= (p.Glu757=) c.2182G= (p.Glu728=) | |
2 | g.102532560G>T | CA347952018 | SLC9A4 | c.2269G>T (p.Glu757Ter) c.2182G>T (p.Glu728Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102532561A>C | CA347952019 | SLC9A4 | c.2270A>C (p.Glu757Ala) c.2183A>C (p.Glu728Ala) | |
2 | g.102532561A>G | CA347952020 | SLC9A4 | c.2270A>G (p.Glu757Gly) c.2183A>G (p.Glu728Gly) | |
2 | g.102532561A>T | CA347952021 | SLC9A4 | c.2270A>T (p.Glu757Val) c.2183A>T (p.Glu728Val) | |
2 | g.102532562G>A | CA427841290 | SLC9A4 | c.2271G>A (p.Glu757=) c.2184G>A (p.Glu728=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102532562G>C | CA347952023 | SLC9A4 | c.2271G>C (p.Glu757Asp) c.2184G>C (p.Glu728Asp) | |
2 | g.102532562G= | CA1275308231 | SLC9A4 | c.2271G= (p.Glu757=) c.2184G= (p.Glu728=) | |
2 | g.102532562G>T | CA347952022 | SLC9A4 | c.2271G>T (p.Glu757Asp) c.2184G>T (p.Glu728Asp) | gnomAD v4 |
2 | g.102532563G>A | CA1811410 | SLC9A4 | c.2272G>A (p.Gly758Ser) c.2185G>A (p.Gly729Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102532563G>C | CA347952024 | SLC9A4 | c.2272G>C (p.Gly758Arg) c.2185G>C (p.Gly729Arg) | |
2 | g.102532563G= | CA1275308232 | SLC9A4 | c.2272G= (p.Gly758=) c.2185G= (p.Gly729=) | |
2 | g.102532563G>T | CA347952025 | SLC9A4 | c.2272G>T (p.Gly758Cys) c.2185G>T (p.Gly729Cys) | |
2 | g.102532564G>A | CA347952026 | SLC9A4 | c.2273G>A (p.Gly758Asp) c.2186G>A (p.Gly729Asp) | gnomAD v4 |
2 | g.102532564G>C | CA347952027 | SLC9A4 | c.2273G>C (p.Gly758Ala) c.2186G>C (p.Gly729Ala) | |
2 | g.102532564G>T | CA347952028 | SLC9A4 | c.2273G>T (p.Gly758Val) c.2186G>T (p.Gly729Val) | |
2 | g.102532565T>A | CA427841300 | SLC9A4 | c.2274T>A (p.Gly758=) c.2187T>A (p.Gly729=) | |
2 | g.102532565T>C | CA427841301 | SLC9A4 | c.2274T>C (p.Gly758=) c.2187T>C (p.Gly729=) | |
2 | g.102532565T>G | CA427841302 | SLC9A4 | c.2274T>G (p.Gly758=) c.2187T>G (p.Gly729=) | |
2 | g.102532566G>A | CA1811411 | SLC9A4 | c.2275G>A (p.Glu759Lys) c.2188G>A (p.Glu730Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102532566G>C | CA347952029 | SLC9A4 | c.2275G>C (p.Glu759Gln) c.2188G>C (p.Glu730Gln) |