9 | g.137236187_137236496del | CA2573144328 | SLC34A3 | c.1571_*80del (n.[c.1571_*80del;Leu524GlnfsTer14])
| ClinVar dbSNP |
9 | g.137236202T>A | CA375741131 | SLC34A3 | c.1586T>A (p.Ile529Asn)
| |
9 | g.137236202T>C | CA375741133 | SLC34A3 | c.1586T>C (p.Ile529Thr)
| gnomAD v4 |
9 | g.137236202T>G | CA375741132 | SLC34A3 | c.1586T>G (p.Ile529Ser)
| |
9 | g.137236203C>A | CA467942702 | SLC34A3 | c.1587C>A (p.Ile529=)
| |
9 | g.137236203C>G | CA375741136 | SLC34A3 | c.1587C>G (p.Ile529Met)
| |
9 | g.137236203C>T | CA467942703 | SLC34A3 | c.1587C>T (p.Ile529=)
| gnomAD v4 |
9 | g.137236204C>A | CA375741138 | SLC34A3 | c.1588C>A (p.Leu530Met)
| gnomAD v4 |
9 | g.137236204C>G | CA375741139 | SLC34A3 | c.1588C>G (p.Leu530Val)
| |
9 | g.137236204C>T | CA467942705 | SLC34A3 | c.1588C>T (p.Leu530=)
| |
9 | g.137236205T>A | CA375741140 | SLC34A3 | c.1589T>A (p.Leu530Gln)
| |
9 | g.137236205T>C | CA375741141 | SLC34A3 | c.1589T>C (p.Leu530Pro)
| gnomAD v4 |
9 | g.137236205T>G | CA375741142 | SLC34A3 | c.1589T>G (p.Leu530Arg)
| |
9 | g.137236206G>A | CA467942710 | SLC34A3 | c.1590G>A (p.Leu530=)
| dbSNP gnomAD v4 |
9 | g.137236206G>C | CA467942712 | SLC34A3 | c.1590G>C (p.Leu530=)
| |
9 | g.137236206G= | CA1884372256 | SLC34A3 | c.1590G= (p.Leu530=)
| |
9 | g.137236206G>T | CA467942711 | SLC34A3 | c.1590G>T (p.Leu530=)
| gnomAD v4 |
9 | g.137236207G>A | CA375741143 | SLC34A3 | c.1591G>A (p.Val531Ile)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236207G>C | CA375741144 | SLC34A3 | c.1591G>C (p.Val531Leu)
| |
9 | g.137236207G= | CA1884372257 | SLC34A3 | c.1591G= (p.Val531=)
| |
9 | g.137236207G>T | CA375741146 | SLC34A3 | c.1591G>T (p.Val531Phe)
| gnomAD v4 |
9 | g.137236208T>A | CA375741148 | SLC34A3 | c.1592T>A (p.Val531Asp)
| |
9 | g.137236208T>C | CA375741150 | SLC34A3 | c.1592T>C (p.Val531Ala)
| dbSNP |
9 | g.137236208T>G | CA375741152 | SLC34A3 | c.1592T>G (p.Val531Gly)
| |
9 | g.137236208T= | CA1884372258 | SLC34A3 | c.1592T= (p.Val531=)
| |
9 | g.137236209T>A | CA467942265 | SLC34A3 | c.1593T>A (p.Val531=)
| |
9 | g.137236209T>C | CA467942264 | SLC34A3 | c.1593T>C (p.Val531=)
| dbSNP gnomAD v4 |
9 | g.137236209T>G | CA467942262 | SLC34A3 | c.1593T>G (p.Val531=)
| |
9 | g.137236209T= | CA1884372259 | SLC34A3 | c.1593T= (p.Val531=)
| |
9 | g.137236210A= | CA1884372260 | SLC34A3 | c.1594A= (p.Thr532=)
| |
9 | g.137236210A>C | CA375741154 | SLC34A3 | c.1594A>C (p.Thr532Pro)
| |
9 | g.137236210A>G | CA375741161 | SLC34A3 | c.1594A>G (p.Thr532Ala)
| |
9 | g.137236210A>T | CA375741156 | SLC34A3 | c.1594A>T (p.Thr532Ser)
| |
9 | g.137236211C>A | CA375741162 | SLC34A3 | c.1595C>A (p.Thr532Asn)
| gnomAD v4 |
9 | g.137236211C>G | CA375741165 | SLC34A3 | c.1595C>G (p.Thr532Ser)
| gnomAD v4 |
9 | g.137236211C>T | CA375741167 | SLC34A3 | c.1595C>T (p.Thr532Ile)
| |
9 | g.137236217_137236249dup | CA891862919 | SLC34A3 | c.1601_1633dup (p.Val544_Arg545insLeuGlnArgArgArgProAlaTrpLeuProVal)
| ClinVar dbSNP |
9 | g.137236212T>A | CA467942273 | SLC34A3 | c.1596T>A (p.Thr532=)
| |
9 | g.137236212T>C | CA5365005 | SLC34A3 | c.1596T>C (p.Thr532=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236212T>G | CA467942274 | SLC34A3 | c.1596T>G (p.Thr532=)
| |
9 | g.137236212T= | CA1884372261 | SLC34A3 | c.1596T= (p.Thr532=)
| |
9 | g.137236213G>A | CA375741169 | SLC34A3 | c.1597G>A (p.Val533Ile)
| dbSNP gnomAD v4 |
9 | g.137236213G>C | CA375741170 | SLC34A3 | c.1597G>C (p.Val533Leu)
| gnomAD v4 |
9 | g.137236213G= | CA1884372262 | SLC34A3 | c.1597G= (p.Val533=)
| |
9 | g.137236213G>T | CA375741172 | SLC34A3 | c.1597G>T (p.Val533Phe)
| gnomAD v4 |
9 | g.137236214T>A | CA375741173 | SLC34A3 | c.1598T>A (p.Val533Asp)
| |
9 | g.137236214T>C | CA375741185 | SLC34A3 | c.1598T>C (p.Val533Ala)
| |
9 | g.137236214T>G | CA375741176 | SLC34A3 | c.1598T>G (p.Val533Gly)
| |
9 | g.137236215C>A | CA467942279 | SLC34A3 | c.1599C>A (p.Val533=)
| dbSNP gnomAD v4 |
9 | g.137236215C= | CA1884372263 | SLC34A3 | c.1599C= (p.Val533=)
| |
9 | g.137236215C>G | CA467942280 | SLC34A3 | c.1599C>G (p.Val533=)
| |
9 | g.137236215C>T | CA5365006 | SLC34A3 | c.1599C>T (p.Val533=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236216C>A | CA375741193 | SLC34A3 | c.1600C>A (p.Leu534Met)
| gnomAD v4 |
9 | g.137236216C= | CA1884372264 | SLC34A3 | c.1600C= (p.Leu534=)
| |
9 | g.137236216C>G | CA375741195 | SLC34A3 | c.1600C>G (p.Leu534Val)
| |
9 | g.137236216C>T | CA5365007 | SLC34A3 | c.1600C>T (p.Leu534=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236217T>A | CA375741200 | SLC34A3 | c.1601T>A (p.Leu534Gln)
| |
9 | g.137236217T>C | CA375741209 | SLC34A3 | c.1601T>C (p.Leu534Pro)
| dbSNP gnomAD v4 |
9 | g.137236217T>G | CA375741203 | SLC34A3 | c.1601T>G (p.Leu534Arg)
| |
9 | g.137236217T= | CA1884372265 | SLC34A3 | c.1601T= (p.Leu534=)
| |
9 | g.137236218G>A | CA467942285 | SLC34A3 | c.1602G>A (p.Leu534=)
| gnomAD v4 |
9 | g.137236218G>C | CA467942286 | SLC34A3 | c.1602G>C (p.Leu534=)
| |
9 | g.137236218G>T | CA467942287 | SLC34A3 | c.1602G>T (p.Leu534=)
| gnomAD v4 |
9 | g.137236219C>A | CA375741211 | SLC34A3 | c.1603C>A (p.Gln535Lys)
| gnomAD v4 |
9 | g.137236219C= | CA1884372266 | SLC34A3 | c.1603C= (p.Gln535=)
| |
9 | g.137236219C>G | CA375741215 | SLC34A3 | c.1603C>G (p.Gln535Glu)
| |
9 | g.137236219C>T | CA375741217 | SLC34A3 | c.1603C>T (p.Gln535Ter)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.137236220A>C | CA375741221 | SLC34A3 | c.1604A>C (p.Gln535Pro)
| |
9 | g.137236220A>G | CA375741224 | SLC34A3 | c.1604A>G (p.Gln535Arg)
| |
9 | g.137236220A>T | CA375741226 | SLC34A3 | c.1604A>T (p.Gln535Leu)
| gnomAD v4 |
9 | g.137236221G>A | CA467942293 | SLC34A3 | c.1605G>A (p.Gln535=)
| dbSNP |
9 | g.137236221G>C | CA375741231 | SLC34A3 | c.1605G>C (p.Gln535His)
| |
9 | g.137236221G= | CA1884372267 | SLC34A3 | c.1605G= (p.Gln535=)
| |
9 | g.137236221G>T | CA375741235 | SLC34A3 | c.1605G>T (p.Gln535His)
| gnomAD v4 |
9 | g.137236221_137236222insTTACACACATTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACA | CA591374007 | SLC34A3 | c.1605_1606insTTACACACATTAACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACA (p.Arg536LeufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236222C>A | CA467942297 | SLC34A3 | c.1606C>A (p.Arg536=)
| gnomAD v4 |
9 | g.137236222C= | CA1884372268 | SLC34A3 | c.1606C= (p.Arg536=)
| |
9 | g.137236222C>G | CA375741240 | SLC34A3 | c.1606C>G (p.Arg536Gly)
| dbSNP gnomAD v4 |
9 | g.137236222C>T | CA5365008 | SLC34A3 | c.1606C>T (p.Arg536Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236223G>A | CA5365009 | SLC34A3 | c.1607G>A (p.Arg536Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236223G>C | CA375741251 | SLC34A3 | c.1607G>C (p.Arg536Pro)
| |
9 | g.137236223G= | CA1884372269 | SLC34A3 | c.1607G= (p.Arg536=)
| |
9 | g.137236223G>T | CA375741247 | SLC34A3 | c.1607G>T (p.Arg536Leu)
| gnomAD v4 |
9 | g.137236224G>A | CA5365010 | SLC34A3 | c.1608G>A (p.Arg536=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137236224G>C | CA467942302 | SLC34A3 | c.1608G>C (p.Arg536=)
| |
9 | g.137236224G= | CA1884372270 | SLC34A3 | c.1608G= (p.Arg536=)
| |
9 | g.137236224G>T | CA467942303 | SLC34A3 | c.1608G>T (p.Arg536=)
| |
9 | g.137236225C>A | CA375741258 | SLC34A3 | c.1609C>A (p.Arg537Ser)
| gnomAD v4 |
9 | g.137236225C= | CA1884372271 | SLC34A3 | c.1609C= (p.Arg537=)
| |
9 | g.137236225C>G | CA375741262 | SLC34A3 | c.1609C>G (p.Arg537Gly)
| |
9 | g.137236225C>T | CA5365011 | SLC34A3 | c.1609C>T (p.Arg537Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236226G>A | CA5365012 | SLC34A3 | c.1610G>A (p.Arg537His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236226G>C | CA375741271 | SLC34A3 | c.1610G>C (p.Arg537Pro)
| |
9 | g.137236226G= | CA1884372272 | SLC34A3 | c.1610G= (p.Arg537=)
| |
9 | g.137236226G>T | CA375741273 | SLC34A3 | c.1610G>T (p.Arg537Leu)
| gnomAD v4 |
9 | g.137236233_137236236dup | CA2579530753 | SLC34A3 | c.1617_1620dup (p.Trp541GlyfsTer?)
| |
9 | g.137236233_137236236del | CA2692818234 | SLC34A3 | c.1617_1620del (p.Ala540GlyfsTer26)
| gnomAD v4 |
9 | g.137236227C>A | CA467942306 | SLC34A3 | c.1611C>A (p.Arg537=)
| gnomAD v4 |
9 | g.137236227C>G | CA467942308 | SLC34A3 | c.1611C>G (p.Arg537=)
| |
9 | g.137236227C>T | CA467942307 | SLC34A3 | c.1611C>T (p.Arg537=)
| |
9 | g.137236228C>A | CA467942311 | SLC34A3 | c.1612C>A (p.Arg538=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236228C= | CA1884372273 | SLC34A3 | c.1612C= (p.Arg538=)
| |
9 | g.137236228C>G | CA375741281 | SLC34A3 | c.1612C>G (p.Arg538Gly)
| |
9 | g.137236228C>T | CA5365013 | SLC34A3 | c.1612C>T (p.Arg538Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236229G>A | CA5365014 | SLC34A3 | c.1613G>A (p.Arg538Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236229G>C | CA375741287 | SLC34A3 | c.1613G>C (p.Arg538Pro)
| |
9 | g.137236229G= | CA1884372274 | SLC34A3 | c.1613G= (p.Arg538=)
| |
9 | g.137236229G>T | CA375741289 | SLC34A3 | c.1613G>T (p.Arg538Leu)
| gnomAD v4 |
9 | g.137236230G>A | CA467942317 | SLC34A3 | c.1614G>A (p.Arg538=)
| gnomAD v4 |
9 | g.137236230G>C | CA467942318 | SLC34A3 | c.1614G>C (p.Arg538=)
| |
9 | g.137236230G>T | CA467942319 | SLC34A3 | c.1614G>T (p.Arg538=)
| gnomAD v4 |
9 | g.137236231C>A | CA375741293 | SLC34A3 | c.1615C>A (p.Pro539Thr)
| gnomAD v4 |
9 | g.137236231C>G | CA375741296 | SLC34A3 | c.1615C>G (p.Pro539Ala)
| |
9 | g.137236231C>T | CA375741298 | SLC34A3 | c.1615C>T (p.Pro539Ser)
| gnomAD v4 |
9 | g.137236232C>A | CA375741302 | SLC34A3 | c.1616C>A (p.Pro539Gln)
| |
9 | g.137236232C= | CA1884372275 | SLC34A3 | c.1616C= (p.Pro539=)
| |
9 | g.137236232C>G | CA201700167 | SLC34A3 | c.1616C>G (p.Pro539Arg)
| dbSNP |
9 | g.137236232C>T | CA5365015 | SLC34A3 | c.1616C>T (p.Pro539Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236233_137236235del | CA2692818235 | SLC34A3 | c.1617_1619del (p.Ala540del)
| gnomAD v4 |
9 | g.137236233G>A | CA5365016 | SLC34A3 | c.1617G>A (p.Pro539=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236233G>C | CA467942323 | SLC34A3 | c.1617G>C (p.Pro539=)
| gnomAD v4 |
9 | g.137236233G= | CA1884372276 | SLC34A3 | c.1617G= (p.Pro539=)
| |
9 | g.137236233G>T | CA467942324 | SLC34A3 | c.1617G>T (p.Pro539=)
| gnomAD v4 |
9 | g.137236234G>A | CA375741314 | SLC34A3 | c.1618G>A (p.Ala540Thr)
| gnomAD v4 |
9 | g.137236234G>C | CA375741317 | SLC34A3 | c.1618G>C (p.Ala540Pro)
| |
9 | g.137236234G= | CA1884372277 | SLC34A3 | c.1618G= (p.Ala540=)
| |
9 | g.137236234G>T | CA375741319 | SLC34A3 | c.1618G>T (p.Ala540Ser)
| dbSNP gnomAD v4 |
9 | g.137236235C>A | CA375741323 | SLC34A3 | c.1619C>A (p.Ala540Asp)
| gnomAD v4 |
9 | g.137236235C>G | CA375741332 | SLC34A3 | c.1619C>G (p.Ala540Gly)
| |
9 | g.137236235C>T | CA375741337 | SLC34A3 | c.1619C>T (p.Ala540Val)
| gnomAD v4 |
9 | g.137236236C>A | CA467942329 | SLC34A3 | c.1620C>A (p.Ala540=)
| gnomAD v4 |
9 | g.137236236C= | CA1884372278 | SLC34A3 | c.1620C= (p.Ala540=)
| |
9 | g.137236236C>G | CA467942330 | SLC34A3 | c.1620C>G (p.Ala540=)
| |
9 | g.137236236C>T | CA201700168 | SLC34A3 | c.1620C>T (p.Ala540=)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236237T>A | CA375741343 | SLC34A3 | c.1621T>A (p.Trp541Arg)
| |
9 | g.137236237T>C | CA375741346 | SLC34A3 | c.1621T>C (p.Trp541Arg)
| gnomAD v4 |
9 | g.137236237T>G | CA375741351 | SLC34A3 | c.1621T>G (p.Trp541Gly)
| |
9 | g.137236238G>A | CA201700172 | SLC34A3 | c.1622G>A (p.Trp541Ter)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236238G>C | CA375741358 | SLC34A3 | c.1622G>C (p.Trp541Ser)
| gnomAD v4 |
9 | g.137236238G= | CA1884372279 | SLC34A3 | c.1622G= (p.Trp541=)
| |
9 | g.137236238G>T | CA375741356 | SLC34A3 | c.1622G>T (p.Trp541Leu)
| gnomAD v4 |
9 | g.137236239G>A | CA5365018 | SLC34A3 | c.1623G>A (p.Trp541Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236239G>C | CA375741364 | SLC34A3 | c.1623G>C (p.Trp541Cys)
| |
9 | g.137236239G= | CA1884372280 | SLC34A3 | c.1623G= (p.Trp541=)
| |
9 | g.137236239G>T | CA375741368 | SLC34A3 | c.1623G>T (p.Trp541Cys)
| gnomAD v4 |
9 | g.137236239_137236240delinsGC | CA1884372281 | SLC34A3 | c.1623_1624delinsGC (p.Trp541=)
| |
9 | g.137236240del | CA5365017 | SLC34A3 | c.1624del (p.Leu542CysfsTer25)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236240C>A | CA375741373 | SLC34A3 | c.1624C>A (p.Leu542Met)
| gnomAD v4 |
9 | g.137236240C= | CA1884372282 | SLC34A3 | c.1624C= (p.Leu542=)
| |
9 | g.137236240C>G | CA375741376 | SLC34A3 | c.1624C>G (p.Leu542Val)
| |
9 | g.137236240C>T | CA467942336 | SLC34A3 | c.1624C>T (p.Leu542=)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236241T>A | CA375741380 | SLC34A3 | c.1625T>A (p.Leu542Gln)
| |
9 | g.137236241T>C | CA375741382 | SLC34A3 | c.1625T>C (p.Leu542Pro)
| dbSNP gnomAD v4 |
9 | g.137236241T>G | CA375741385 | SLC34A3 | c.1625T>G (p.Leu542Arg)
| |
9 | g.137236241T= | CA1884372283 | SLC34A3 | c.1625T= (p.Leu542=)
| |
9 | g.137236242G>A | CA467942340 | SLC34A3 | c.1626G>A (p.Leu542=)
| |
9 | g.137236242G>C | CA467942339 | SLC34A3 | c.1626G>C (p.Leu542=)
| dbSNP gnomAD v4 |
9 | g.137236242G= | CA1884372284 | SLC34A3 | c.1626G= (p.Leu542=)
| |
9 | g.137236242G>T | CA467942338 | SLC34A3 | c.1626G>T (p.Leu542=)
| gnomAD v4 |
9 | g.137236242_137236243delinsGC | CA1884372285 | SLC34A3 | c.1626_1627delinsGC (p.Leu542=)
| |
9 | g.137236243C>A | CA375741390 | SLC34A3 | c.1627C>A (p.Pro543Thr)
| |
9 | g.137236243C>G | CA375741391 | SLC34A3 | c.1627C>G (p.Pro543Ala)
| |
9 | g.137236243C>T | CA375741394 | SLC34A3 | c.1627C>T (p.Pro543Ser)
| gnomAD v4 |
9 | g.137236244del | CA5365019 | SLC34A3 | c.1628del (p.Pro543LeufsTer24)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137236244C>A | CA375741403 | SLC34A3 | c.1628C>A (p.Pro543His)
| |
9 | g.137236244C= | CA1884372286 | SLC34A3 | c.1628C= (p.Pro543=)
| |
9 | g.137236244C>G | CA375741407 | SLC34A3 | c.1628C>G (p.Pro543Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236244C>T | CA375741404 | SLC34A3 | c.1628C>T (p.Pro543Leu)
| gnomAD v4 |
9 | g.137236245T>A | CA467942346 | SLC34A3 | c.1629T>A (p.Pro543=)
| |
9 | g.137236245T>C | CA5365020 | SLC34A3 | c.1629T>C (p.Pro543=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236245T>G | CA467942347 | SLC34A3 | c.1629T>G (p.Pro543=)
| |
9 | g.137236245T= | CA1884372287 | SLC34A3 | c.1629T= (p.Pro543=)
| |
9 | g.137236246G>A | CA375741413 | SLC34A3 | c.1630G>A (p.Val544Ile)
| |
9 | g.137236246G>C | CA375741415 | SLC34A3 | c.1630G>C (p.Val544Leu)
| |
9 | g.137236246G>T | CA375741419 | SLC34A3 | c.1630G>T (p.Val544Phe)
| gnomAD v4 |
9 | g.137236247T>A | CA375741422 | SLC34A3 | c.1631T>A (p.Val544Asp)
| |
9 | g.137236247T>C | CA375741425 | SLC34A3 | c.1631T>C (p.Val544Ala)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236247T>G | CA375741428 | SLC34A3 | c.1631T>G (p.Val544Gly)
| gnomAD v4 |
9 | g.137236247T= | CA1884372288 | SLC34A3 | c.1631T= (p.Val544=)
| |
9 | g.137236248C>A | CA467942352 | SLC34A3 | c.1632C>A (p.Val544=)
| |
9 | g.137236248C>G | CA467942354 | SLC34A3 | c.1632C>G (p.Val544=)
| |
9 | g.137236248C>T | CA467942355 | SLC34A3 | c.1632C>T (p.Val544=)
| gnomAD v4 |
9 | g.137236249C>A | CA375741432 | SLC34A3 | c.1633C>A (p.Arg545Ser)
| gnomAD v4 |
9 | g.137236249C= | CA1884372291 | SLC34A3 | c.1633C= (p.Arg545=)
| |
9 | g.137236249C>G | CA375741435 | SLC34A3 | c.1633C>G (p.Arg545Gly)
| gnomAD v4 |
9 | g.137236249C>T | CA5365021 | SLC34A3 | c.1633C>T (p.Arg545Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236249_137236263delinsCGCCTGCGCTCCTGG | CA1884372290 | SLC34A3 | c.1633_1647delinsCGCCTGCGCTCCTGG (p.Arg545=)
| |
9 | g.137236249_137236279delinsCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCT | CA1884372289 | SLC34A3 | c.1633_1663delinsCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCT (p.Arg545=)
| |
9 | g.137236250G>A | CA5365022 | SLC34A3 | c.1634G>A (p.Arg545His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236250G>C | CA375741442 | SLC34A3 | c.1634G>C (p.Arg545Pro)
| dbSNP gnomAD v4 |
9 | g.137236250G= | CA1884372292 | SLC34A3 | c.1634G= (p.Arg545=)
| |
9 | g.137236250G>T | CA375741439 | SLC34A3 | c.1634G>T (p.Arg545Leu)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236255_137236268del | CA658653795 | SLC34A3 | c.1639_1652del (p.Arg547AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
9 | g.137236251_137236280del | CA591374008 | SLC34A3 | c.1635_1664del (p.Leu546_Trp555del)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236251C>A | CA467942356 | SLC34A3 | c.1635C>A (p.Arg545=)
| |
9 | g.137236251C>G | CA467942357 | SLC34A3 | c.1635C>G (p.Arg545=)
| |
9 | g.137236251C>T | CA467942359 | SLC34A3 | c.1635C>T (p.Arg545=)
| gnomAD v4 |
9 | g.137236252C>A | CA375741444 | SLC34A3 | c.1636C>A (p.Leu546Met)
| |
9 | g.137236252C>G | CA375741445 | SLC34A3 | c.1636C>G (p.Leu546Val)
| |
9 | g.137236252C>T | CA467942362 | SLC34A3 | c.1636C>T (p.Leu546=)
| |
9 | g.137236253T>A | CA375741449 | SLC34A3 | c.1637T>A (p.Leu546Gln)
| |
9 | g.137236253T>C | CA375741453 | SLC34A3 | c.1637T>C (p.Leu546Pro)
| |
9 | g.137236253T>G | CA5365023 | SLC34A3 | c.1637T>G (p.Leu546Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137236253T= | CA1884372293 | SLC34A3 | c.1637T= (p.Leu546=)
| |
9 | g.137236254G>A | CA467942364 | SLC34A3 | c.1638G>A (p.Leu546=)
| gnomAD v4 |
9 | g.137236254G>C | CA201700187 | SLC34A3 | c.1638G>C (p.Leu546=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236254G= | CA1884372294 | SLC34A3 | c.1638G= (p.Leu546=)
| |
9 | g.137236254G>T | CA467942366 | SLC34A3 | c.1638G>T (p.Leu546=)
| gnomAD v4 |
9 | g.137236255C>A | CA375741454 | SLC34A3 | c.1639C>A (p.Arg547Ser)
| gnomAD v4 |
9 | g.137236255C= | CA1884372295 | SLC34A3 | c.1639C= (p.Arg547=)
| |
9 | g.137236255C>G | CA375741455 | SLC34A3 | c.1639C>G (p.Arg547Gly)
| |
9 | g.137236255C>T | CA5365024 | SLC34A3 | c.1639C>T (p.Arg547Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236256G>A | CA5365025 | SLC34A3 | c.1640G>A (p.Arg547His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236256G>C | CA375741462 | SLC34A3 | c.1640G>C (p.Arg547Pro)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236256G= | CA1884372296 | SLC34A3 | c.1640G= (p.Arg547=)
| |
9 | g.137236256G>T | CA375741468 | SLC34A3 | c.1640G>T (p.Arg547Leu)
| gnomAD v4 |
9 | g.137236257C>A | CA467942368 | SLC34A3 | c.1641C>A (p.Arg547=)
| gnomAD v4 |
9 | g.137236257C= | CA1884372297 | SLC34A3 | c.1641C= (p.Arg547=)
| |
9 | g.137236257C>G | CA467942369 | SLC34A3 | c.1641C>G (p.Arg547=)
| dbSNP |
9 | g.137236257C>T | CA467942371 | SLC34A3 | c.1641C>T (p.Arg547=)
| gnomAD v4 |
9 | g.137236257_137236258insAGGTGGGGGAAGCAGCCCGATGCTGCC | CA2603923006 | SLC34A3 | c.1641_1642insAGGTGGGGGAAGCAGCCCGATGCTGCC (p.Arg547_Ser548insArgTrpGlyLysGlnProAspAlaAla)
| gnomAD v3 gnomAD v4 |
9 | g.137236257_137236258insAGGTGGGGGAAGCAGCCCGA | CA1130092964 | SLC34A3 | c.1641_1642insAGGTGGGGGAAGCAGCCCGA (p.Ser548ArgfsTer26)
| gnomAD v3 gnomAD v4 |
9 | g.137236258T>A | CA375741472 | SLC34A3 | c.1642T>A (p.Ser548Thr)
| gnomAD v3 gnomAD v4 |
9 | g.137236258T>C | CA375741474 | SLC34A3 | c.1642T>C (p.Ser548Pro)
| dbSNP gnomAD v4 |
9 | g.137236258T>G | CA375741475 | SLC34A3 | c.1642T>G (p.Ser548Ala)
| |
9 | g.137236258T= | CA1884372298 | SLC34A3 | c.1642T= (p.Ser548=)
| |
9 | g.137236259C>A | CA375741476 | SLC34A3 | c.1643C>A (p.Ser548Tyr)
| gnomAD v4 |
9 | g.137236259C>G | CA375741478 | SLC34A3 | c.1643C>G (p.Ser548Cys)
| gnomAD v3 gnomAD v4 |
9 | g.137236259C>T | CA375741480 | SLC34A3 | c.1643C>T (p.Ser548Phe)
| gnomAD v4 |
9 | g.137236260C>A | CA467942377 | SLC34A3 | c.1644C>A (p.Ser548=)
| gnomAD v4 |
9 | g.137236260C>G | CA467942379 | SLC34A3 | c.1644C>G (p.Ser548=)
| gnomAD v3 gnomAD v4 |
9 | g.137236260C>T | CA467942380 | SLC34A3 | c.1644C>T (p.Ser548=)
| gnomAD v4 |
9 | g.137236261T>A | CA375741488 | SLC34A3 | c.1645T>A (p.Trp549Arg)
| gnomAD v4 |
9 | g.137236261T>C | CA201700200 | SLC34A3 | c.1645T>C (p.Trp549Arg)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236261T>G | CA375741485 | SLC34A3 | c.1645T>G (p.Trp549Gly)
| |
9 | g.137236261T= | CA1884372299 | SLC34A3 | c.1645T= (p.Trp549=)
| |
9 | g.137236262G>A | CA375741497 | SLC34A3 | c.1646G>A (p.Trp549Ter)
| gnomAD v4 |
9 | g.137236262G>C | CA375741505 | SLC34A3 | c.1646G>C (p.Trp549Ser)
| |
9 | g.137236262G>T | CA375741517 | SLC34A3 | c.1646G>T (p.Trp549Leu)
| gnomAD v4 |
9 | g.137236263G>A | CA375741521 | SLC34A3 | c.1647G>A (p.Trp549Ter)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236263G>C | CA375741526 | SLC34A3 | c.1647G>C (p.Trp549Cys)
| |
9 | g.137236263G= | CA1884372300 | SLC34A3 | c.1647G= (p.Trp549=)
| |
9 | g.137236263G>T | CA375741539 | SLC34A3 | c.1647G>T (p.Trp549Cys)
| gnomAD v4 |
9 | g.137236264G>A | CA375741551 | SLC34A3 | c.1648G>A (p.Ala550Thr)
| dbSNP gnomAD v4 |
9 | g.137236264G>C | CA375741556 | SLC34A3 | c.1648G>C (p.Ala550Pro)
| |
9 | g.137236264G= | CA1884372301 | SLC34A3 | c.1648G= (p.Ala550=)
| |
9 | g.137236264G>T | CA375741561 | SLC34A3 | c.1648G>T (p.Ala550Ser)
| gnomAD v4 |
9 | g.137236265_137236276del | CA2692818236 | SLC34A3 | c.1649_1660del (p.Ala550_Pro553del)
| gnomAD v4 |
9 | g.137236265C>A | CA375741571 | SLC34A3 | c.1649C>A (p.Ala550Asp)
| gnomAD v4 |
9 | g.137236265C= | CA1884372302 | SLC34A3 | c.1649C= (p.Ala550=)
| |
9 | g.137236265C>G | CA375741574 | SLC34A3 | c.1649C>G (p.Ala550Gly)
| gnomAD v4 |
9 | g.137236265C>T | CA375741576 | SLC34A3 | c.1649C>T (p.Ala550Val)
| dbSNP gnomAD v4 |
9 | g.137236266C>A | CA467942392 | SLC34A3 | c.1650C>A (p.Ala550=)
| gnomAD v4 |
9 | g.137236266C= | CA1884372303 | SLC34A3 | c.1650C= (p.Ala550=)
| |
9 | g.137236266C>G | CA467942395 | SLC34A3 | c.1650C>G (p.Ala550=)
| |
9 | g.137236266C>T | CA201700201 | SLC34A3 | c.1650C>T (p.Ala550=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236274_137236285del | CA2579530754 | SLC34A3 | c.1658_1669del (p.Pro553_Leu556del)
| gnomAD v4 |
9 | g.137236267T>A | CA375741592 | SLC34A3 | c.1651T>A (p.Trp551Arg)
| |
9 | g.137236267T>C | CA375741586 | SLC34A3 | c.1651T>C (p.Trp551Arg)
| |
9 | g.137236267T>G | CA375741589 | SLC34A3 | c.1651T>G (p.Trp551Gly)
| |
9 | g.137236268G>A | CA375741593 | SLC34A3 | c.1652G>A (p.Trp551Ter)
| |
9 | g.137236268G>C | CA375741595 | SLC34A3 | c.1652G>C (p.Trp551Ser)
| gnomAD v4 |
9 | g.137236268G>T | CA375741598 | SLC34A3 | c.1652G>T (p.Trp551Leu)
| gnomAD v4 |
9 | g.137236269G>A | CA16618814 | SLC34A3 | c.1653G>A (p.Trp551Ter)
| ClinVar dbSNP gnomAD v4 |
9 | g.137236269G>C | CA375741601 | SLC34A3 | c.1653G>C (p.Trp551Cys)
| |
9 | g.137236269G= | CA1884372304 | SLC34A3 | c.1653G= (p.Trp551=)
| |
9 | g.137236269G>T | CA375741599 | SLC34A3 | c.1653G>T (p.Trp551Cys)
| gnomAD v4 |
9 | g.137236270C>A | CA375741618 | SLC34A3 | c.1654C>A (p.Leu552Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236270C= | CA1884372305 | SLC34A3 | c.1654C= (p.Leu552=)
| |
9 | g.137236270C>G | CA375741620 | SLC34A3 | c.1654C>G (p.Leu552Val)
| dbSNP gnomAD v4 |
9 | g.137236270C>T | CA375741623 | SLC34A3 | c.1654C>T (p.Leu552Phe)
| gnomAD v4 |
9 | g.137236271T>A | CA375741627 | SLC34A3 | c.1655T>A (p.Leu552His)
| |
9 | g.137236271T>C | CA375741630 | SLC34A3 | c.1655T>C (p.Leu552Pro)
| gnomAD v4 |
9 | g.137236271T>G | CA5365026 | SLC34A3 | c.1655T>G (p.Leu552Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137236271T= | CA1884372306 | SLC34A3 | c.1655T= (p.Leu552=)
| |
9 | g.137236272C>A | CA467942402 | SLC34A3 | c.1656C>A (p.Leu552=)
| gnomAD v4 |
9 | g.137236272C= | CA1884372307 | SLC34A3 | c.1656C= (p.Leu552=)
| |
9 | g.137236272C>G | CA467942404 | SLC34A3 | c.1656C>G (p.Leu552=)
| gnomAD v4 |
9 | g.137236272C>T | CA467942406 | SLC34A3 | c.1656C>T (p.Leu552=)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236275del | CA2538089510 | SLC34A3 | c.1659del (p.Val554SerfsTer13)
| |
9 | g.137236273C>A | CA375741635 | SLC34A3 | c.1657C>A (p.Pro553Thr)
| gnomAD v4 |
9 | g.137236273C= | CA1884372308 | SLC34A3 | c.1657C= (p.Pro553=)
| |
9 | g.137236273C>G | CA375741655 | SLC34A3 | c.1657C>G (p.Pro553Ala)
| |
9 | g.137236273C>T | CA375741648 | SLC34A3 | c.1657C>T (p.Pro553Ser)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236274C>A | CA375741656 | SLC34A3 | c.1658C>A (p.Pro553His)
| gnomAD v4 |
9 | g.137236274C>G | CA375741660 | SLC34A3 | c.1658C>G (p.Pro553Arg)
| |
9 | g.137236274C>T | CA375741661 | SLC34A3 | c.1658C>T (p.Pro553Leu)
| gnomAD v4 |
9 | g.137236275C>A | CA467942410 | SLC34A3 | c.1659C>A (p.Pro553=)
| gnomAD v4 |
9 | g.137236275C= | CA1884372309 | SLC34A3 | c.1659C= (p.Pro553=)
| |
9 | g.137236275C>G | CA467942411 | SLC34A3 | c.1659C>G (p.Pro553=)
| |
9 | g.137236275C>T | CA5365027 | SLC34A3 | c.1659C>T (p.Pro553=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236276G>A | CA201700224 | SLC34A3 | c.1660G>A (p.Val554Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236276G>C | CA375741664 | SLC34A3 | c.1660G>C (p.Val554Leu)
| |
9 | g.137236276G= | CA1884372310 | SLC34A3 | c.1660G= (p.Val554=)
| |
9 | g.137236276G>T | CA375741667 | SLC34A3 | c.1660G>T (p.Val554Phe)
| gnomAD v4 |
9 | g.137236277T>A | CA375741671 | SLC34A3 | c.1661T>A (p.Val554Asp)
| |
9 | g.137236277T>C | CA375741672 | SLC34A3 | c.1661T>C (p.Val554Ala)
| dbSNP |
9 | g.137236277T>G | CA375741673 | SLC34A3 | c.1661T>G (p.Val554Gly)
| |
9 | g.137236277T= | CA1884372311 | SLC34A3 | c.1661T= (p.Val554=)
| |
9 | g.137236278C>A | CA467942416 | SLC34A3 | c.1662C>A (p.Val554=)
| |
9 | g.137236278C>G | CA467942417 | SLC34A3 | c.1662C>G (p.Val554=)
| |
9 | g.137236278C>T | CA467942419 | SLC34A3 | c.1662C>T (p.Val554=)
| |
9 | g.137236279T>A | CA375741680 | SLC34A3 | c.1663T>A (p.Trp555Arg)
| |
9 | g.137236279T>C | CA375741678 | SLC34A3 | c.1663T>C (p.Trp555Arg)
| |
9 | g.137236279T>G | CA375741676 | SLC34A3 | c.1663T>G (p.Trp555Gly)
| |
9 | g.137236280G>A | CA375741686 | SLC34A3 | c.1664G>A (p.Trp555Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236280G>C | CA375741696 | SLC34A3 | c.1664G>C (p.Trp555Ser)
| |
9 | g.137236280G= | CA1884372312 | SLC34A3 | c.1664G= (p.Trp555=)
| |
9 | g.137236280G>T | CA375741689 | SLC34A3 | c.1664G>T (p.Trp555Leu)
| gnomAD v4 |
9 | g.137236281del | CA2692818237 | SLC34A3 | c.1665del (p.Trp555CysfsTer12)
| gnomAD v4 |
9 | g.137236281G>A | CA375741699 | SLC34A3 | c.1665G>A (p.Trp555Ter)
| gnomAD v4 |
9 | g.137236281G>C | CA375741703 | SLC34A3 | c.1665G>C (p.Trp555Cys)
| |
9 | g.137236281G>T | CA375741706 | SLC34A3 | c.1665G>T (p.Trp555Cys)
| gnomAD v4 |
9 | g.137236282C>A | CA375741708 | SLC34A3 | c.1666C>A (p.Leu556Ile)
| |
9 | g.137236282C= | CA1884372313 | SLC34A3 | c.1666C= (p.Leu556=)
| |
9 | g.137236282C>G | CA375741710 | SLC34A3 | c.1666C>G (p.Leu556Val)
| |
9 | g.137236282C>T | CA375741712 | SLC34A3 | c.1666C>T (p.Leu556Phe)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236283T>A | CA375741715 | SLC34A3 | c.1667T>A (p.Leu556His)
| |
9 | g.137236283T>C | CA375741719 | SLC34A3 | c.1667T>C (p.Leu556Pro)
| gnomAD v4 |
9 | g.137236283T>G | CA375741722 | SLC34A3 | c.1667T>G (p.Leu556Arg)
| |
9 | g.137236284C>A | CA467942432 | SLC34A3 | c.1668C>A (p.Leu556=)
| gnomAD v4 |
9 | g.137236284C= | CA1884372314 | SLC34A3 | c.1668C= (p.Leu556=)
| |
9 | g.137236284C>G | CA467942433 | SLC34A3 | c.1668C>G (p.Leu556=)
| |
9 | g.137236284C>T | CA467942434 | SLC34A3 | c.1668C>T (p.Leu556=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236285C>A | CA375741726 | SLC34A3 | c.1669C>A (p.His557Asn)
| |
9 | g.137236285C>G | CA375741727 | SLC34A3 | c.1669C>G (p.His557Asp)
| |
9 | g.137236285C>T | CA375741728 | SLC34A3 | c.1669C>T (p.His557Tyr)
| |
9 | g.137236286A>C | CA375741730 | SLC34A3 | c.1670A>C (p.His557Pro)
| |
9 | g.137236286A>G | CA375741740 | SLC34A3 | c.1670A>G (p.His557Arg)
| gnomAD v4 |
9 | g.137236286A>T | CA375741737 | SLC34A3 | c.1670A>T (p.His557Leu)
| |
9 | g.137236287T>A | CA375741759 | SLC34A3 | c.1671T>A (p.His557Gln)
| |
9 | g.137236287T>C | CA467942438 | SLC34A3 | c.1671T>C (p.His557=)
| gnomAD v4 |
9 | g.137236287T>G | CA375741765 | SLC34A3 | c.1671T>G (p.His557Gln)
| gnomAD v4 |
9 | g.137236288T>A | CA375741768 | SLC34A3 | c.1672T>A (p.Ser558Thr)
| |
9 | g.137236288T>C | CA375741777 | SLC34A3 | c.1672T>C (p.Ser558Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236288T>G | CA375741784 | SLC34A3 | c.1672T>G (p.Ser558Ala)
| |
9 | g.137236288T= | CA1884372315 | SLC34A3 | c.1672T= (p.Ser558=)
| |
9 | g.137236288_137236294del | CA2741063353 | SLC34A3 | c.1672_1678del (p.Leu559ProfsTer6)
| |
9 | g.137236288_137236331dup | CA2692818238 | SLC34A3 | c.1672_1715dup (p.Asn573LeufsTer9)
| gnomAD v4 |
9 | g.137236289C>A | CA375741788 | SLC34A3 | c.1673C>A (p.Ser558Tyr)
| |
9 | g.137236289C= | CA1884372316 | SLC34A3 | c.1673C= (p.Ser558=)
| |
9 | g.137236289C>G | CA375741789 | SLC34A3 | c.1673C>G (p.Ser558Cys)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236289C>T | CA375741790 | SLC34A3 | c.1673C>T (p.Ser558Phe)
| dbSNP |
9 | g.137236290T>A | CA467942443 | SLC34A3 | c.1674T>A (p.Ser558=)
| |
9 | g.137236290T>C | CA467942444 | SLC34A3 | c.1674T>C (p.Ser558=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236290T>G | CA467942445 | SLC34A3 | c.1674T>G (p.Ser558=)
| |
9 | g.137236290T= | CA1884372317 | SLC34A3 | c.1674T= (p.Ser558=)
| |
9 | g.137236290_137236298delinsTCTGGAGCC | CA1884372318 | SLC34A3 | c.1674_1682delinsTCTGGAGCC (p.Ser558=)
| |
9 | g.137236291C>A | CA375741795 | SLC34A3 | c.1675C>A (p.Leu559Met)
| |
9 | g.137236291C>G | CA375741796 | SLC34A3 | c.1675C>G (p.Leu559Val)
| gnomAD v4 |
9 | g.137236291C>T | CA467942447 | SLC34A3 | c.1675C>T (p.Leu559=)
| |
9 | g.137236295_137236302del | CA591374009 | SLC34A3 | c.1679_1686del (p.Glu560GlyfsTer30)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137236292T>A | CA375741807 | SLC34A3 | c.1676T>A (p.Leu559Gln)
| |
9 | g.137236292T>C | CA375741815 | SLC34A3 | c.1676T>C (p.Leu559Pro)
| |
9 | g.137236292T>G | CA375741803 | SLC34A3 | c.1676T>G (p.Leu559Arg)
| |
9 | g.137236292_137236293delinsTG | CA1884372319 | SLC34A3 | c.1676_1677delinsTG (p.Leu559=)
| |
9 | g.137236293G>A | CA467942450 | SLC34A3 | c.1677G>A (p.Leu559=)
| |
9 | g.137236293G>C | CA467942451 | SLC34A3 | c.1677G>C (p.Leu559=)
| |
9 | g.137236293G>T | CA467942452 | SLC34A3 | c.1677G>T (p.Leu559=)
| gnomAD v4 |
9 | g.137236294del | CA1130092995 | SLC34A3 | c.1678del (p.Glu560SerfsTer7)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236294G>A | CA375741819 | SLC34A3 | c.1678G>A (p.Glu560Lys)
| |
9 | g.137236294G>C | CA375741825 | SLC34A3 | c.1678G>C (p.Glu560Gln)
| |
9 | g.137236294G>T | CA375741829 | SLC34A3 | c.1678G>T (p.Glu560Ter)
| gnomAD v4 |
9 | g.137236295A>C | CA375741844 | SLC34A3 | c.1679A>C (p.Glu560Ala)
| |
9 | g.137236295A>G | CA375741845 | SLC34A3 | c.1679A>G (p.Glu560Gly)
| |
9 | g.137236295A>T | CA375741849 | SLC34A3 | c.1679A>T (p.Glu560Val)
| |
9 | g.137236296G>A | CA467942454 | SLC34A3 | c.1680G>A (p.Glu560=)
| |
9 | g.137236296G>C | CA375741863 | SLC34A3 | c.1680G>C (p.Glu560Asp)
| |
9 | g.137236296G>T | CA375741851 | SLC34A3 | c.1680G>T (p.Glu560Asp)
| gnomAD v4 |
9 | g.137236297C>A | CA375741864 | SLC34A3 | c.1681C>A (p.Pro561Thr)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236297C= | CA1884372320 | SLC34A3 | c.1681C= (p.Pro561=)
| |
9 | g.137236297C>G | CA375741865 | SLC34A3 | c.1681C>G (p.Pro561Ala)
| |
9 | g.137236297C>T | CA375741867 | SLC34A3 | c.1681C>T (p.Pro561Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137236299del | CA2692818239 | SLC34A3 | c.1683del (p.Trp562GlyfsTer5)
| gnomAD v4 |
9 | g.137236298C>A | CA375741890 | SLC34A3 | c.1682C>A (p.Pro561His)
| |
9 | g.137236298C>G | CA375741892 | SLC34A3 | c.1682C>G (p.Pro561Arg)
| |
9 | g.137236298C>T | CA375741893 | SLC34A3 | c.1682C>T (p.Pro561Leu)
| |
9 | g.137236299C>A | CA467942460 | SLC34A3 | c.1683C>A (p.Pro561=)
| gnomAD v4 |
9 | g.137236299C>G | CA467942461 | SLC34A3 | c.1683C>G (p.Pro561=)
| |
9 | g.137236299C>T | CA467942462 | SLC34A3 | c.1683C>T (p.Pro561=)
| gnomAD v4 |
9 | g.137236299_137236303del | CA2741063354 | SLC34A3 | c.1683_1687del (p.Trp562ProfsTer29)
| |
9 | g.137236300T>A | CA375741897 | SLC34A3 | c.1684T>A (p.Trp562Arg)
| |
9 | g.137236300T>C | CA375741899 | SLC34A3 | c.1684T>C (p.Trp562Arg)
| gnomAD v4 |
9 | g.137236300T>G | CA375741898 | SLC34A3 | c.1684T>G (p.Trp562Gly)
| |
9 | g.137236301G>A | CA375741900 | SLC34A3 | c.1685G>A (p.Trp562Ter)
| |
9 | g.137236301G>C | CA375741903 | SLC34A3 | c.1685G>C (p.Trp562Ser)
| |
9 | g.137236301G>T | CA375741904 | SLC34A3 | c.1685G>T (p.Trp562Leu)
| gnomAD v4 |
9 | g.137236303del | CA2841301176 | SLC34A3 | c.1687del (p.Asp563ThrfsTer4)
| |
9 | g.137236302G>A | CA375741905 | SLC34A3 | c.1686G>A (p.Trp562Ter)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137236302G>C | CA375741906 | SLC34A3 | c.1686G>C (p.Trp562Cys)
| gnomAD v4 |
9 | g.137236302G= | CA1884372321 | SLC34A3 | c.1686G= (p.Trp562=)
| |
9 | g.137236302G>T | CA375741916 | SLC34A3 | c.1686G>T (p.Trp562Cys)
| gnomAD v4 |