Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2090368C>A | CA394325100 | PKD1 | c.12361G>T (p.Ala4121Ser) c.12358G>T (p.Ala4120Ser) n.389G>T c.9316G>T (p.Ala3106Ser) c.12439G>T (p.Ala4147Ser) c.12436G>T (p.Ala4146Ser) c.12421G>T (p.Ala4141Ser) c.12415G>T (p.Ala4139Ser) c.12412G>T (p.Ala4138Ser) c.12385G>T (p.Ala4129Ser) c.12367G>T (p.Ala4123Ser) c.12313G>T (p.Ala4105Ser) c.12232G>T (p.Ala4078Ser) c.12175G>T (p.Ala4059Ser) c.10261G>T (p.Ala3421Ser) c.9439G>T (p.Ala3147Ser) n.12279G>T c.12481G>T (p.Ala4161Ser) c.12409G>T (p.Ala4137Ser) c.12271G>T (p.Ala4091Ser) c.10357G>T (p.Ala3453Ser) | gnomAD v4 |
16 | g.2090368C= | CA2202041525 | PKD1 | c.12361G= (p.Ala4121=) c.12358G= (p.Ala4120=) n.389G= c.9316G= (p.Ala3106=) c.12439G= (p.Ala4147=) c.12436G= (p.Ala4146=) c.12421G= (p.Ala4141=) c.12415G= (p.Ala4139=) c.12412G= (p.Ala4138=) c.12385G= (p.Ala4129=) c.12367G= (p.Ala4123=) c.12313G= (p.Ala4105=) c.12232G= (p.Ala4078=) c.12175G= (p.Ala4059=) c.10261G= (p.Ala3421=) c.9439G= (p.Ala3147=) n.12279G= c.12481G= (p.Ala4161=) c.12409G= (p.Ala4137=) c.12271G= (p.Ala4091=) c.10357G= (p.Ala3453=) | |
16 | g.2090368C>G | CA394325102 | PKD1 | c.12361G>C (p.Ala4121Pro) c.12358G>C (p.Ala4120Pro) n.389G>C c.9316G>C (p.Ala3106Pro) c.12439G>C (p.Ala4147Pro) c.12436G>C (p.Ala4146Pro) c.12421G>C (p.Ala4141Pro) c.12415G>C (p.Ala4139Pro) c.12412G>C (p.Ala4138Pro) c.12385G>C (p.Ala4129Pro) c.12367G>C (p.Ala4123Pro) c.12313G>C (p.Ala4105Pro) c.12232G>C (p.Ala4078Pro) c.12175G>C (p.Ala4059Pro) c.10261G>C (p.Ala3421Pro) c.9439G>C (p.Ala3147Pro) n.12279G>C c.12481G>C (p.Ala4161Pro) c.12409G>C (p.Ala4137Pro) c.12271G>C (p.Ala4091Pro) c.10357G>C (p.Ala3453Pro) | |
16 | g.2090368C>T | CA394325106 | PKD1 | c.12361G>A (p.Ala4121Thr) c.12358G>A (p.Ala4120Thr) n.389G>A c.9316G>A (p.Ala3106Thr) c.12439G>A (p.Ala4147Thr) c.12436G>A (p.Ala4146Thr) c.12421G>A (p.Ala4141Thr) c.12415G>A (p.Ala4139Thr) c.12412G>A (p.Ala4138Thr) c.12385G>A (p.Ala4129Thr) c.12367G>A (p.Ala4123Thr) c.12313G>A (p.Ala4105Thr) c.12232G>A (p.Ala4078Thr) c.12175G>A (p.Ala4059Thr) c.10261G>A (p.Ala3421Thr) c.9439G>A (p.Ala3147Thr) n.12279G>A c.12481G>A (p.Ala4161Thr) c.12409G>A (p.Ala4137Thr) c.12271G>A (p.Ala4091Thr) c.10357G>A (p.Ala3453Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090369C>A | CA493044280 | PKD1 | c.12360G>T (p.Pro4120=) c.12357G>T (p.Pro4119=) n.388G>T c.9315G>T (p.Pro3105=) c.12438G>T (p.Pro4146=) c.12435G>T (p.Pro4145=) c.12420G>T (p.Pro4140=) c.12414G>T (p.Pro4138=) c.12411G>T (p.Pro4137=) c.12384G>T (p.Pro4128=) c.12366G>T (p.Pro4122=) c.12312G>T (p.Pro4104=) c.12231G>T (p.Pro4077=) c.12174G>T (p.Pro4058=) c.10260G>T (p.Pro3420=) c.9438G>T (p.Pro3146=) n.12278G>T c.12480G>T (p.Pro4160=) c.12408G>T (p.Pro4136=) c.12270G>T (p.Pro4090=) c.10356G>T (p.Pro3452=) | dbSNP |
16 | g.2090369C= | CA2202041529 | PKD1 | c.12360G= (p.Pro4120=) c.12357G= (p.Pro4119=) n.388G= c.9315G= (p.Pro3105=) c.12438G= (p.Pro4146=) c.12435G= (p.Pro4145=) c.12420G= (p.Pro4140=) c.12414G= (p.Pro4138=) c.12411G= (p.Pro4137=) c.12384G= (p.Pro4128=) c.12366G= (p.Pro4122=) c.12312G= (p.Pro4104=) c.12231G= (p.Pro4077=) c.12174G= (p.Pro4058=) c.10260G= (p.Pro3420=) c.9438G= (p.Pro3146=) n.12278G= c.12480G= (p.Pro4160=) c.12408G= (p.Pro4136=) c.12270G= (p.Pro4090=) c.10356G= (p.Pro3452=) | |
16 | g.2090369C>G | CA493044282 | PKD1 | c.12360G>C (p.Pro4120=) c.12357G>C (p.Pro4119=) n.388G>C c.9315G>C (p.Pro3105=) c.12438G>C (p.Pro4146=) c.12435G>C (p.Pro4145=) c.12420G>C (p.Pro4140=) c.12414G>C (p.Pro4138=) c.12411G>C (p.Pro4137=) c.12384G>C (p.Pro4128=) c.12366G>C (p.Pro4122=) c.12312G>C (p.Pro4104=) c.12231G>C (p.Pro4077=) c.12174G>C (p.Pro4058=) c.10260G>C (p.Pro3420=) c.9438G>C (p.Pro3146=) n.12278G>C c.12480G>C (p.Pro4160=) c.12408G>C (p.Pro4136=) c.12270G>C (p.Pro4090=) c.10356G>C (p.Pro3452=) | dbSNP |
16 | g.2090369C>T | CA493044281 | PKD1 | c.12360G>A (p.Pro4120=) c.12357G>A (p.Pro4119=) n.388G>A c.9315G>A (p.Pro3105=) c.12438G>A (p.Pro4146=) c.12435G>A (p.Pro4145=) c.12420G>A (p.Pro4140=) c.12414G>A (p.Pro4138=) c.12411G>A (p.Pro4137=) c.12384G>A (p.Pro4128=) c.12366G>A (p.Pro4122=) c.12312G>A (p.Pro4104=) c.12231G>A (p.Pro4077=) c.12174G>A (p.Pro4058=) c.10260G>A (p.Pro3420=) c.9438G>A (p.Pro3146=) n.12278G>A c.12480G>A (p.Pro4160=) c.12408G>A (p.Pro4136=) c.12270G>A (p.Pro4090=) c.10356G>A (p.Pro3452=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090370G>A | CA7828673 | PKD1 | c.12359C>T (p.Pro4120Leu) c.12356C>T (p.Pro4119Leu) n.387C>T c.9314C>T (p.Pro3105Leu) c.12437C>T (p.Pro4146Leu) c.12434C>T (p.Pro4145Leu) c.12419C>T (p.Pro4140Leu) c.12413C>T (p.Pro4138Leu) c.12410C>T (p.Pro4137Leu) c.12383C>T (p.Pro4128Leu) c.12365C>T (p.Pro4122Leu) c.12311C>T (p.Pro4104Leu) c.12230C>T (p.Pro4077Leu) c.12173C>T (p.Pro4058Leu) c.10259C>T (p.Pro3420Leu) c.9437C>T (p.Pro3146Leu) n.12277C>T c.12479C>T (p.Pro4160Leu) c.12407C>T (p.Pro4136Leu) c.12269C>T (p.Pro4090Leu) c.10355C>T (p.Pro3452Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090370G>C | CA394325110 | PKD1 | c.12359C>G (p.Pro4120Arg) c.12356C>G (p.Pro4119Arg) n.387C>G c.9314C>G (p.Pro3105Arg) c.12437C>G (p.Pro4146Arg) c.12434C>G (p.Pro4145Arg) c.12419C>G (p.Pro4140Arg) c.12413C>G (p.Pro4138Arg) c.12410C>G (p.Pro4137Arg) c.12383C>G (p.Pro4128Arg) c.12365C>G (p.Pro4122Arg) c.12311C>G (p.Pro4104Arg) c.12230C>G (p.Pro4077Arg) c.12173C>G (p.Pro4058Arg) c.10259C>G (p.Pro3420Arg) c.9437C>G (p.Pro3146Arg) n.12277C>G c.12479C>G (p.Pro4160Arg) c.12407C>G (p.Pro4136Arg) c.12269C>G (p.Pro4090Arg) c.10355C>G (p.Pro3452Arg) | |
16 | g.2090370G= | CA2202041534 | PKD1 | c.12359C= (p.Pro4120=) c.12356C= (p.Pro4119=) n.387C= c.9314C= (p.Pro3105=) c.12437C= (p.Pro4146=) c.12434C= (p.Pro4145=) c.12419C= (p.Pro4140=) c.12413C= (p.Pro4138=) c.12410C= (p.Pro4137=) c.12383C= (p.Pro4128=) c.12365C= (p.Pro4122=) c.12311C= (p.Pro4104=) c.12230C= (p.Pro4077=) c.12173C= (p.Pro4058=) c.10259C= (p.Pro3420=) c.9437C= (p.Pro3146=) n.12277C= c.12479C= (p.Pro4160=) c.12407C= (p.Pro4136=) c.12269C= (p.Pro4090=) c.10355C= (p.Pro3452=) | |
16 | g.2090370G>T | CA394325109 | PKD1 | c.12359C>A (p.Pro4120Gln) c.12356C>A (p.Pro4119Gln) n.387C>A c.9314C>A (p.Pro3105Gln) c.12437C>A (p.Pro4146Gln) c.12434C>A (p.Pro4145Gln) c.12419C>A (p.Pro4140Gln) c.12413C>A (p.Pro4138Gln) c.12410C>A (p.Pro4137Gln) c.12383C>A (p.Pro4128Gln) c.12365C>A (p.Pro4122Gln) c.12311C>A (p.Pro4104Gln) c.12230C>A (p.Pro4077Gln) c.12173C>A (p.Pro4058Gln) c.10259C>A (p.Pro3420Gln) c.9437C>A (p.Pro3146Gln) n.12277C>A c.12479C>A (p.Pro4160Gln) c.12407C>A (p.Pro4136Gln) c.12269C>A (p.Pro4090Gln) c.10355C>A (p.Pro3452Gln) | |
16 | g.2090371G>A | CA394325113 | PKD1 | c.12358C>T (p.Pro4120Ser) c.12355C>T (p.Pro4119Ser) n.386C>T c.9313C>T (p.Pro3105Ser) c.12436C>T (p.Pro4146Ser) c.12433C>T (p.Pro4145Ser) c.12418C>T (p.Pro4140Ser) c.12412C>T (p.Pro4138Ser) c.12409C>T (p.Pro4137Ser) c.12382C>T (p.Pro4128Ser) c.12364C>T (p.Pro4122Ser) c.12310C>T (p.Pro4104Ser) c.12229C>T (p.Pro4077Ser) c.12172C>T (p.Pro4058Ser) c.10258C>T (p.Pro3420Ser) c.9436C>T (p.Pro3146Ser) n.12276C>T c.12478C>T (p.Pro4160Ser) c.12406C>T (p.Pro4136Ser) c.12268C>T (p.Pro4090Ser) c.10354C>T (p.Pro3452Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090371G>C | CA394325116 | PKD1 | c.12358C>G (p.Pro4120Ala) c.12355C>G (p.Pro4119Ala) n.386C>G c.9313C>G (p.Pro3105Ala) c.12436C>G (p.Pro4146Ala) c.12433C>G (p.Pro4145Ala) c.12418C>G (p.Pro4140Ala) c.12412C>G (p.Pro4138Ala) c.12409C>G (p.Pro4137Ala) c.12382C>G (p.Pro4128Ala) c.12364C>G (p.Pro4122Ala) c.12310C>G (p.Pro4104Ala) c.12229C>G (p.Pro4077Ala) c.12172C>G (p.Pro4058Ala) c.10258C>G (p.Pro3420Ala) c.9436C>G (p.Pro3146Ala) n.12276C>G c.12478C>G (p.Pro4160Ala) c.12406C>G (p.Pro4136Ala) c.12268C>G (p.Pro4090Ala) c.10354C>G (p.Pro3452Ala) | |
16 | g.2090371G= | CA2202041539 | PKD1 | c.12358C= (p.Pro4120=) c.12355C= (p.Pro4119=) n.386C= c.9313C= (p.Pro3105=) c.12436C= (p.Pro4146=) c.12433C= (p.Pro4145=) c.12418C= (p.Pro4140=) c.12412C= (p.Pro4138=) c.12409C= (p.Pro4137=) c.12382C= (p.Pro4128=) c.12364C= (p.Pro4122=) c.12310C= (p.Pro4104=) c.12229C= (p.Pro4077=) c.12172C= (p.Pro4058=) c.10258C= (p.Pro3420=) c.9436C= (p.Pro3146=) n.12276C= c.12478C= (p.Pro4160=) c.12406C= (p.Pro4136=) c.12268C= (p.Pro4090=) c.10354C= (p.Pro3452=) | |
16 | g.2090371G>T | CA394325118 | PKD1 | c.12358C>A (p.Pro4120Thr) c.12355C>A (p.Pro4119Thr) n.386C>A c.9313C>A (p.Pro3105Thr) c.12436C>A (p.Pro4146Thr) c.12433C>A (p.Pro4145Thr) c.12418C>A (p.Pro4140Thr) c.12412C>A (p.Pro4138Thr) c.12409C>A (p.Pro4137Thr) c.12382C>A (p.Pro4128Thr) c.12364C>A (p.Pro4122Thr) c.12310C>A (p.Pro4104Thr) c.12229C>A (p.Pro4077Thr) c.12172C>A (p.Pro4058Thr) c.10258C>A (p.Pro3420Thr) c.9436C>A (p.Pro3146Thr) n.12276C>A c.12478C>A (p.Pro4160Thr) c.12406C>A (p.Pro4136Thr) c.12268C>A (p.Pro4090Thr) c.10354C>A (p.Pro3452Thr) | |
16 | g.2090372C>A | CA493044290 | PKD1 | c.12357G>T (p.Arg4119=) c.12354G>T (p.Arg4118=) n.385G>T c.9312G>T (p.Arg3104=) c.12435G>T (p.Arg4145=) c.12432G>T (p.Arg4144=) c.12417G>T (p.Arg4139=) c.12411G>T (p.Arg4137=) c.12408G>T (p.Arg4136=) c.12381G>T (p.Arg4127=) c.12363G>T (p.Arg4121=) c.12309G>T (p.Arg4103=) c.12228G>T (p.Arg4076=) c.12171G>T (p.Arg4057=) c.10257G>T (p.Arg3419=) c.9435G>T (p.Arg3145=) n.12275G>T c.12477G>T (p.Arg4159=) c.12405G>T (p.Arg4135=) c.12267G>T (p.Arg4089=) c.10353G>T (p.Arg3451=) | |
16 | g.2090372C>G | CA493044291 | PKD1 | c.12357G>C (p.Arg4119=) c.12354G>C (p.Arg4118=) n.385G>C c.9312G>C (p.Arg3104=) c.12435G>C (p.Arg4145=) c.12432G>C (p.Arg4144=) c.12417G>C (p.Arg4139=) c.12411G>C (p.Arg4137=) c.12408G>C (p.Arg4136=) c.12381G>C (p.Arg4127=) c.12363G>C (p.Arg4121=) c.12309G>C (p.Arg4103=) c.12228G>C (p.Arg4076=) c.12171G>C (p.Arg4057=) c.10257G>C (p.Arg3419=) c.9435G>C (p.Arg3145=) n.12275G>C c.12477G>C (p.Arg4159=) c.12405G>C (p.Arg4135=) c.12267G>C (p.Arg4089=) c.10353G>C (p.Arg3451=) | |
16 | g.2090372C>T | CA493044293 | PKD1 | c.12357G>A (p.Arg4119=) c.12354G>A (p.Arg4118=) n.385G>A c.9312G>A (p.Arg3104=) c.12435G>A (p.Arg4145=) c.12432G>A (p.Arg4144=) c.12417G>A (p.Arg4139=) c.12411G>A (p.Arg4137=) c.12408G>A (p.Arg4136=) c.12381G>A (p.Arg4127=) c.12363G>A (p.Arg4121=) c.12309G>A (p.Arg4103=) c.12228G>A (p.Arg4076=) c.12171G>A (p.Arg4057=) c.10257G>A (p.Arg3419=) c.9435G>A (p.Arg3145=) n.12275G>A c.12477G>A (p.Arg4159=) c.12405G>A (p.Arg4135=) c.12267G>A (p.Arg4089=) c.10353G>A (p.Arg3451=) | gnomAD v4 |
16 | g.2090373C>A | CA394325122 | PKD1 | c.12356G>T (p.Arg4119Leu) c.12353G>T (p.Arg4118Leu) n.384G>T c.9311G>T (p.Arg3104Leu) c.12434G>T (p.Arg4145Leu) c.12431G>T (p.Arg4144Leu) c.12416G>T (p.Arg4139Leu) c.12410G>T (p.Arg4137Leu) c.12407G>T (p.Arg4136Leu) c.12380G>T (p.Arg4127Leu) c.12362G>T (p.Arg4121Leu) c.12308G>T (p.Arg4103Leu) c.12227G>T (p.Arg4076Leu) c.12170G>T (p.Arg4057Leu) c.10256G>T (p.Arg3419Leu) c.9434G>T (p.Arg3145Leu) n.12274G>T c.12476G>T (p.Arg4159Leu) c.12404G>T (p.Arg4135Leu) c.12266G>T (p.Arg4089Leu) c.10352G>T (p.Arg3451Leu) | |
16 | g.2090373C= | CA2202041543 | PKD1 | c.12356G= (p.Arg4119=) c.12353G= (p.Arg4118=) n.384G= c.9311G= (p.Arg3104=) c.12434G= (p.Arg4145=) c.12431G= (p.Arg4144=) c.12416G= (p.Arg4139=) c.12410G= (p.Arg4137=) c.12407G= (p.Arg4136=) c.12380G= (p.Arg4127=) c.12362G= (p.Arg4121=) c.12308G= (p.Arg4103=) c.12227G= (p.Arg4076=) c.12170G= (p.Arg4057=) c.10256G= (p.Arg3419=) c.9434G= (p.Arg3145=) n.12274G= c.12476G= (p.Arg4159=) c.12404G= (p.Arg4135=) c.12266G= (p.Arg4089=) c.10352G= (p.Arg3451=) | |
16 | g.2090373C>G | CA394325126 | PKD1 | c.12356G>C (p.Arg4119Pro) c.12353G>C (p.Arg4118Pro) n.384G>C c.9311G>C (p.Arg3104Pro) c.12434G>C (p.Arg4145Pro) c.12431G>C (p.Arg4144Pro) c.12416G>C (p.Arg4139Pro) c.12410G>C (p.Arg4137Pro) c.12407G>C (p.Arg4136Pro) c.12380G>C (p.Arg4127Pro) c.12362G>C (p.Arg4121Pro) c.12308G>C (p.Arg4103Pro) c.12227G>C (p.Arg4076Pro) c.12170G>C (p.Arg4057Pro) c.10256G>C (p.Arg3419Pro) c.9434G>C (p.Arg3145Pro) n.12274G>C c.12476G>C (p.Arg4159Pro) c.12404G>C (p.Arg4135Pro) c.12266G>C (p.Arg4089Pro) c.10352G>C (p.Arg3451Pro) | |
16 | g.2090373C>T | CA276764030 | PKD1 | c.12356G>A (p.Arg4119Gln) c.12353G>A (p.Arg4118Gln) n.384G>A c.9311G>A (p.Arg3104Gln) c.12434G>A (p.Arg4145Gln) c.12431G>A (p.Arg4144Gln) c.12416G>A (p.Arg4139Gln) c.12410G>A (p.Arg4137Gln) c.12407G>A (p.Arg4136Gln) c.12380G>A (p.Arg4127Gln) c.12362G>A (p.Arg4121Gln) c.12308G>A (p.Arg4103Gln) c.12227G>A (p.Arg4076Gln) c.12170G>A (p.Arg4057Gln) c.10256G>A (p.Arg3419Gln) c.9434G>A (p.Arg3145Gln) n.12274G>A c.12476G>A (p.Arg4159Gln) c.12404G>A (p.Arg4135Gln) c.12266G>A (p.Arg4089Gln) c.10352G>A (p.Arg3451Gln) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090374G>A | CA276764031 | PKD1 | c.12355C>T (p.Arg4119Trp) c.12352C>T (p.Arg4118Trp) n.383C>T c.9310C>T (p.Arg3104Trp) c.12433C>T (p.Arg4145Trp) c.12430C>T (p.Arg4144Trp) c.12415C>T (p.Arg4139Trp) c.12409C>T (p.Arg4137Trp) c.12406C>T (p.Arg4136Trp) c.12379C>T (p.Arg4127Trp) c.12361C>T (p.Arg4121Trp) c.12307C>T (p.Arg4103Trp) c.12226C>T (p.Arg4076Trp) c.12169C>T (p.Arg4057Trp) c.10255C>T (p.Arg3419Trp) c.9433C>T (p.Arg3145Trp) n.12273C>T c.12475C>T (p.Arg4159Trp) c.12403C>T (p.Arg4135Trp) c.12265C>T (p.Arg4089Trp) c.10351C>T (p.Arg3451Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090374G>C | CA394325144 | PKD1 | c.12355C>G (p.Arg4119Gly) c.12352C>G (p.Arg4118Gly) n.383C>G c.9310C>G (p.Arg3104Gly) c.12433C>G (p.Arg4145Gly) c.12430C>G (p.Arg4144Gly) c.12415C>G (p.Arg4139Gly) c.12409C>G (p.Arg4137Gly) c.12406C>G (p.Arg4136Gly) c.12379C>G (p.Arg4127Gly) c.12361C>G (p.Arg4121Gly) c.12307C>G (p.Arg4103Gly) c.12226C>G (p.Arg4076Gly) c.12169C>G (p.Arg4057Gly) c.10255C>G (p.Arg3419Gly) c.9433C>G (p.Arg3145Gly) n.12273C>G c.12475C>G (p.Arg4159Gly) c.12403C>G (p.Arg4135Gly) c.12265C>G (p.Arg4089Gly) c.10351C>G (p.Arg3451Gly) | |
16 | g.2090374G= | CA2202041549 | PKD1 | c.12355C= (p.Arg4119=) c.12352C= (p.Arg4118=) n.383C= c.9310C= (p.Arg3104=) c.12433C= (p.Arg4145=) c.12430C= (p.Arg4144=) c.12415C= (p.Arg4139=) c.12409C= (p.Arg4137=) c.12406C= (p.Arg4136=) c.12379C= (p.Arg4127=) c.12361C= (p.Arg4121=) c.12307C= (p.Arg4103=) c.12226C= (p.Arg4076=) c.12169C= (p.Arg4057=) c.10255C= (p.Arg3419=) c.9433C= (p.Arg3145=) n.12273C= c.12475C= (p.Arg4159=) c.12403C= (p.Arg4135=) c.12265C= (p.Arg4089=) c.10351C= (p.Arg3451=) | |
16 | g.2090374G>T | CA493044300 | PKD1 | c.12355C>A (p.Arg4119=) c.12352C>A (p.Arg4118=) n.383C>A c.9310C>A (p.Arg3104=) c.12433C>A (p.Arg4145=) c.12430C>A (p.Arg4144=) c.12415C>A (p.Arg4139=) c.12409C>A (p.Arg4137=) c.12406C>A (p.Arg4136=) c.12379C>A (p.Arg4127=) c.12361C>A (p.Arg4121=) c.12307C>A (p.Arg4103=) c.12226C>A (p.Arg4076=) c.12169C>A (p.Arg4057=) c.10255C>A (p.Arg3419=) c.9433C>A (p.Arg3145=) n.12273C>A c.12475C>A (p.Arg4159=) c.12403C>A (p.Arg4135=) c.12265C>A (p.Arg4089=) c.10351C>A (p.Arg3451=) | |
16 | g.2090375G>A | CA493044301 | PKD1 | c.12354C>T (p.Tyr4118=) c.12351C>T (p.Tyr4117=) n.382C>T c.9309C>T (p.Tyr3103=) c.12432C>T (p.Tyr4144=) c.12429C>T (p.Tyr4143=) c.12414C>T (p.Tyr4138=) c.12408C>T (p.Tyr4136=) c.12405C>T (p.Tyr4135=) c.12378C>T (p.Tyr4126=) c.12360C>T (p.Tyr4120=) c.12306C>T (p.Tyr4102=) c.12225C>T (p.Tyr4075=) c.12168C>T (p.Tyr4056=) c.10254C>T (p.Tyr3418=) c.9432C>T (p.Tyr3144=) n.12272C>T c.12474C>T (p.Tyr4158=) c.12402C>T (p.Tyr4134=) c.12264C>T (p.Tyr4088=) c.10350C>T (p.Tyr3450=) | |
16 | g.2090375G>C | CA394325149 | PKD1 | c.12354C>G (p.Tyr4118Ter) c.12351C>G (p.Tyr4117Ter) n.382C>G c.9309C>G (p.Tyr3103Ter) c.12432C>G (p.Tyr4144Ter) c.12429C>G (p.Tyr4143Ter) c.12414C>G (p.Tyr4138Ter) c.12408C>G (p.Tyr4136Ter) c.12405C>G (p.Tyr4135Ter) c.12378C>G (p.Tyr4126Ter) c.12360C>G (p.Tyr4120Ter) c.12306C>G (p.Tyr4102Ter) c.12225C>G (p.Tyr4075Ter) c.12168C>G (p.Tyr4056Ter) c.10254C>G (p.Tyr3418Ter) c.9432C>G (p.Tyr3144Ter) n.12272C>G c.12474C>G (p.Tyr4158Ter) c.12402C>G (p.Tyr4134Ter) c.12264C>G (p.Tyr4088Ter) c.10350C>G (p.Tyr3450Ter) | |
16 | g.2090375G= | CA2202041557 | PKD1 | c.12354C= (p.Tyr4118=) c.12351C= (p.Tyr4117=) n.382C= c.9309C= (p.Tyr3103=) c.12432C= (p.Tyr4144=) c.12429C= (p.Tyr4143=) c.12414C= (p.Tyr4138=) c.12408C= (p.Tyr4136=) c.12405C= (p.Tyr4135=) c.12378C= (p.Tyr4126=) c.12360C= (p.Tyr4120=) c.12306C= (p.Tyr4102=) c.12225C= (p.Tyr4075=) c.12168C= (p.Tyr4056=) c.10254C= (p.Tyr3418=) c.9432C= (p.Tyr3144=) n.12272C= c.12474C= (p.Tyr4158=) c.12402C= (p.Tyr4134=) c.12264C= (p.Tyr4088=) c.10350C= (p.Tyr3450=) | |
16 | g.2090375G>T | CA394325158 | PKD1 | c.12354C>A (p.Tyr4118Ter) c.12351C>A (p.Tyr4117Ter) n.382C>A c.9309C>A (p.Tyr3103Ter) c.12432C>A (p.Tyr4144Ter) c.12429C>A (p.Tyr4143Ter) c.12414C>A (p.Tyr4138Ter) c.12408C>A (p.Tyr4136Ter) c.12405C>A (p.Tyr4135Ter) c.12378C>A (p.Tyr4126Ter) c.12360C>A (p.Tyr4120Ter) c.12306C>A (p.Tyr4102Ter) c.12225C>A (p.Tyr4075Ter) c.12168C>A (p.Tyr4056Ter) c.10254C>A (p.Tyr3418Ter) c.9432C>A (p.Tyr3144Ter) n.12272C>A c.12474C>A (p.Tyr4158Ter) c.12402C>A (p.Tyr4134Ter) c.12264C>A (p.Tyr4088Ter) c.10350C>A (p.Tyr3450Ter) | ClinVar dbSNP gnomAD v2 |
16 | g.2090376T>A | CA394325162 | PKD1 | c.12353A>T (p.Tyr4118Phe) c.12350A>T (p.Tyr4117Phe) n.381A>T c.9308A>T (p.Tyr3103Phe) c.12431A>T (p.Tyr4144Phe) c.12428A>T (p.Tyr4143Phe) c.12413A>T (p.Tyr4138Phe) c.12407A>T (p.Tyr4136Phe) c.12404A>T (p.Tyr4135Phe) c.12377A>T (p.Tyr4126Phe) c.12359A>T (p.Tyr4120Phe) c.12305A>T (p.Tyr4102Phe) c.12224A>T (p.Tyr4075Phe) c.12167A>T (p.Tyr4056Phe) c.10253A>T (p.Tyr3418Phe) c.9431A>T (p.Tyr3144Phe) n.12271A>T c.12473A>T (p.Tyr4158Phe) c.12401A>T (p.Tyr4134Phe) c.12263A>T (p.Tyr4088Phe) c.10349A>T (p.Tyr3450Phe) | |
16 | g.2090376T>C | CA394325164 | PKD1 | c.12353A>G (p.Tyr4118Cys) c.12350A>G (p.Tyr4117Cys) n.381A>G c.9308A>G (p.Tyr3103Cys) c.12431A>G (p.Tyr4144Cys) c.12428A>G (p.Tyr4143Cys) c.12413A>G (p.Tyr4138Cys) c.12407A>G (p.Tyr4136Cys) c.12404A>G (p.Tyr4135Cys) c.12377A>G (p.Tyr4126Cys) c.12359A>G (p.Tyr4120Cys) c.12305A>G (p.Tyr4102Cys) c.12224A>G (p.Tyr4075Cys) c.12167A>G (p.Tyr4056Cys) c.10253A>G (p.Tyr3418Cys) c.9431A>G (p.Tyr3144Cys) n.12271A>G c.12473A>G (p.Tyr4158Cys) c.12401A>G (p.Tyr4134Cys) c.12263A>G (p.Tyr4088Cys) c.10349A>G (p.Tyr3450Cys) | |
16 | g.2090376T>G | CA394325166 | PKD1 | c.12353A>C (p.Tyr4118Ser) c.12350A>C (p.Tyr4117Ser) n.381A>C c.9308A>C (p.Tyr3103Ser) c.12431A>C (p.Tyr4144Ser) c.12428A>C (p.Tyr4143Ser) c.12413A>C (p.Tyr4138Ser) c.12407A>C (p.Tyr4136Ser) c.12404A>C (p.Tyr4135Ser) c.12377A>C (p.Tyr4126Ser) c.12359A>C (p.Tyr4120Ser) c.12305A>C (p.Tyr4102Ser) c.12224A>C (p.Tyr4075Ser) c.12167A>C (p.Tyr4056Ser) c.10253A>C (p.Tyr3418Ser) c.9431A>C (p.Tyr3144Ser) n.12271A>C c.12473A>C (p.Tyr4158Ser) c.12401A>C (p.Tyr4134Ser) c.12263A>C (p.Tyr4088Ser) c.10349A>C (p.Tyr3450Ser) | |
16 | g.2090377A>C | CA394325171 | PKD1 | c.12352T>G (p.Tyr4118Asp) c.12349T>G (p.Tyr4117Asp) n.380T>G c.9307T>G (p.Tyr3103Asp) c.12430T>G (p.Tyr4144Asp) c.12427T>G (p.Tyr4143Asp) c.12412T>G (p.Tyr4138Asp) c.12406T>G (p.Tyr4136Asp) c.12403T>G (p.Tyr4135Asp) c.12376T>G (p.Tyr4126Asp) c.12358T>G (p.Tyr4120Asp) c.12304T>G (p.Tyr4102Asp) c.12223T>G (p.Tyr4075Asp) c.12166T>G (p.Tyr4056Asp) c.10252T>G (p.Tyr3418Asp) c.9430T>G (p.Tyr3144Asp) n.12270T>G c.12472T>G (p.Tyr4158Asp) c.12400T>G (p.Tyr4134Asp) c.12262T>G (p.Tyr4088Asp) c.10348T>G (p.Tyr3450Asp) | |
16 | g.2090377A>G | CA394325173 | PKD1 | c.12352T>C (p.Tyr4118His) c.12349T>C (p.Tyr4117His) n.380T>C c.9307T>C (p.Tyr3103His) c.12430T>C (p.Tyr4144His) c.12427T>C (p.Tyr4143His) c.12412T>C (p.Tyr4138His) c.12406T>C (p.Tyr4136His) c.12403T>C (p.Tyr4135His) c.12376T>C (p.Tyr4126His) c.12358T>C (p.Tyr4120His) c.12304T>C (p.Tyr4102His) c.12223T>C (p.Tyr4075His) c.12166T>C (p.Tyr4056His) c.10252T>C (p.Tyr3418His) c.9430T>C (p.Tyr3144His) n.12270T>C c.12472T>C (p.Tyr4158His) c.12400T>C (p.Tyr4134His) c.12262T>C (p.Tyr4088His) c.10348T>C (p.Tyr3450His) | |
16 | g.2090377A>T | CA394325169 | PKD1 | c.12352T>A (p.Tyr4118Asn) c.12349T>A (p.Tyr4117Asn) n.380T>A c.9307T>A (p.Tyr3103Asn) c.12430T>A (p.Tyr4144Asn) c.12427T>A (p.Tyr4143Asn) c.12412T>A (p.Tyr4138Asn) c.12406T>A (p.Tyr4136Asn) c.12403T>A (p.Tyr4135Asn) c.12376T>A (p.Tyr4126Asn) c.12358T>A (p.Tyr4120Asn) c.12304T>A (p.Tyr4102Asn) c.12223T>A (p.Tyr4075Asn) c.12166T>A (p.Tyr4056Asn) c.10252T>A (p.Tyr3418Asn) c.9430T>A (p.Tyr3144Asn) n.12270T>A c.12472T>A (p.Tyr4158Asn) c.12400T>A (p.Tyr4134Asn) c.12262T>A (p.Tyr4088Asn) c.10348T>A (p.Tyr3450Asn) | |
16 | g.2090378C>A | CA493044311 | PKD1 | c.12351G>T (p.Leu4117=) c.12348G>T (p.Leu4116=) n.379G>T c.9306G>T (p.Leu3102=) c.12429G>T (p.Leu4143=) c.12426G>T (p.Leu4142=) c.12411G>T (p.Leu4137=) c.12405G>T (p.Leu4135=) c.12402G>T (p.Leu4134=) c.12375G>T (p.Leu4125=) c.12357G>T (p.Leu4119=) c.12303G>T (p.Leu4101=) c.12222G>T (p.Leu4074=) c.12165G>T (p.Leu4055=) c.10251G>T (p.Leu3417=) c.9429G>T (p.Leu3143=) n.12269G>T c.12471G>T (p.Leu4157=) c.12399G>T (p.Leu4133=) c.12261G>T (p.Leu4087=) c.10347G>T (p.Leu3449=) | |
16 | g.2090378C>G | CA493044308 | PKD1 | c.12351G>C (p.Leu4117=) c.12348G>C (p.Leu4116=) n.379G>C c.9306G>C (p.Leu3102=) c.12429G>C (p.Leu4143=) c.12426G>C (p.Leu4142=) c.12411G>C (p.Leu4137=) c.12405G>C (p.Leu4135=) c.12402G>C (p.Leu4134=) c.12375G>C (p.Leu4125=) c.12357G>C (p.Leu4119=) c.12303G>C (p.Leu4101=) c.12222G>C (p.Leu4074=) c.12165G>C (p.Leu4055=) c.10251G>C (p.Leu3417=) c.9429G>C (p.Leu3143=) n.12269G>C c.12471G>C (p.Leu4157=) c.12399G>C (p.Leu4133=) c.12261G>C (p.Leu4087=) c.10347G>C (p.Leu3449=) | |
16 | g.2090378C>T | CA493044309 | PKD1 | c.12351G>A (p.Leu4117=) c.12348G>A (p.Leu4116=) n.379G>A c.9306G>A (p.Leu3102=) c.12429G>A (p.Leu4143=) c.12426G>A (p.Leu4142=) c.12411G>A (p.Leu4137=) c.12405G>A (p.Leu4135=) c.12402G>A (p.Leu4134=) c.12375G>A (p.Leu4125=) c.12357G>A (p.Leu4119=) c.12303G>A (p.Leu4101=) c.12222G>A (p.Leu4074=) c.12165G>A (p.Leu4055=) c.10251G>A (p.Leu3417=) c.9429G>A (p.Leu3143=) n.12269G>A c.12471G>A (p.Leu4157=) c.12399G>A (p.Leu4133=) c.12261G>A (p.Leu4087=) c.10347G>A (p.Leu3449=) | gnomAD v4 |
16 | g.2090379A= | CA2202041561 | PKD1 | c.12350T= (p.Leu4117=) c.12347T= (p.Leu4116=) n.378T= c.9305T= (p.Leu3102=) c.12428T= (p.Leu4143=) c.12425T= (p.Leu4142=) c.12410T= (p.Leu4137=) c.12404T= (p.Leu4135=) c.12401T= (p.Leu4134=) c.12374T= (p.Leu4125=) c.12356T= (p.Leu4119=) c.12302T= (p.Leu4101=) c.12221T= (p.Leu4074=) c.12164T= (p.Leu4055=) c.10250T= (p.Leu3417=) c.9428T= (p.Leu3143=) n.12268T= c.12470T= (p.Leu4157=) c.12398T= (p.Leu4133=) c.12260T= (p.Leu4087=) c.10346T= (p.Leu3449=) | |
16 | g.2090379A>C | CA394325176 | PKD1 | c.12350T>G (p.Leu4117Arg) c.12347T>G (p.Leu4116Arg) n.378T>G c.9305T>G (p.Leu3102Arg) c.12428T>G (p.Leu4143Arg) c.12425T>G (p.Leu4142Arg) c.12410T>G (p.Leu4137Arg) c.12404T>G (p.Leu4135Arg) c.12401T>G (p.Leu4134Arg) c.12374T>G (p.Leu4125Arg) c.12356T>G (p.Leu4119Arg) c.12302T>G (p.Leu4101Arg) c.12221T>G (p.Leu4074Arg) c.12164T>G (p.Leu4055Arg) c.10250T>G (p.Leu3417Arg) c.9428T>G (p.Leu3143Arg) n.12268T>G c.12470T>G (p.Leu4157Arg) c.12398T>G (p.Leu4133Arg) c.12260T>G (p.Leu4087Arg) c.10346T>G (p.Leu3449Arg) | |
16 | g.2090379A>G | CA7828674 | PKD1 | c.12350T>C (p.Leu4117Pro) c.12347T>C (p.Leu4116Pro) n.378T>C c.9305T>C (p.Leu3102Pro) c.12428T>C (p.Leu4143Pro) c.12425T>C (p.Leu4142Pro) c.12410T>C (p.Leu4137Pro) c.12404T>C (p.Leu4135Pro) c.12401T>C (p.Leu4134Pro) c.12374T>C (p.Leu4125Pro) c.12356T>C (p.Leu4119Pro) c.12302T>C (p.Leu4101Pro) c.12221T>C (p.Leu4074Pro) c.12164T>C (p.Leu4055Pro) c.10250T>C (p.Leu3417Pro) c.9428T>C (p.Leu3143Pro) n.12268T>C c.12470T>C (p.Leu4157Pro) c.12398T>C (p.Leu4133Pro) c.12260T>C (p.Leu4087Pro) c.10346T>C (p.Leu3449Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090379A>T | CA394325178 | PKD1 | c.12350T>A (p.Leu4117Gln) c.12347T>A (p.Leu4116Gln) n.378T>A c.9305T>A (p.Leu3102Gln) c.12428T>A (p.Leu4143Gln) c.12425T>A (p.Leu4142Gln) c.12410T>A (p.Leu4137Gln) c.12404T>A (p.Leu4135Gln) c.12401T>A (p.Leu4134Gln) c.12374T>A (p.Leu4125Gln) c.12356T>A (p.Leu4119Gln) c.12302T>A (p.Leu4101Gln) c.12221T>A (p.Leu4074Gln) c.12164T>A (p.Leu4055Gln) c.10250T>A (p.Leu3417Gln) c.9428T>A (p.Leu3143Gln) n.12268T>A c.12470T>A (p.Leu4157Gln) c.12398T>A (p.Leu4133Gln) c.12260T>A (p.Leu4087Gln) c.10346T>A (p.Leu3449Gln) | |
16 | g.2090380G>A | CA493044315 | PKD1 | c.12349C>T (p.Leu4117=) c.12346C>T (p.Leu4116=) n.377C>T c.9304C>T (p.Leu3102=) c.12427C>T (p.Leu4143=) c.12424C>T (p.Leu4142=) c.12409C>T (p.Leu4137=) c.12403C>T (p.Leu4135=) c.12400C>T (p.Leu4134=) c.12373C>T (p.Leu4125=) c.12355C>T (p.Leu4119=) c.12301C>T (p.Leu4101=) c.12220C>T (p.Leu4074=) c.12163C>T (p.Leu4055=) c.10249C>T (p.Leu3417=) c.9427C>T (p.Leu3143=) n.12267C>T c.12469C>T (p.Leu4157=) c.12397C>T (p.Leu4133=) c.12259C>T (p.Leu4087=) c.10345C>T (p.Leu3449=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090380G>C | CA394325183 | PKD1 | c.12349C>G (p.Leu4117Val) c.12346C>G (p.Leu4116Val) n.377C>G c.9304C>G (p.Leu3102Val) c.12427C>G (p.Leu4143Val) c.12424C>G (p.Leu4142Val) c.12409C>G (p.Leu4137Val) c.12403C>G (p.Leu4135Val) c.12400C>G (p.Leu4134Val) c.12373C>G (p.Leu4125Val) c.12355C>G (p.Leu4119Val) c.12301C>G (p.Leu4101Val) c.12220C>G (p.Leu4074Val) c.12163C>G (p.Leu4055Val) c.10249C>G (p.Leu3417Val) c.9427C>G (p.Leu3143Val) n.12267C>G c.12469C>G (p.Leu4157Val) c.12397C>G (p.Leu4133Val) c.12259C>G (p.Leu4087Val) c.10345C>G (p.Leu3449Val) | |
16 | g.2090380G= | CA2202041566 | PKD1 | c.12349C= (p.Leu4117=) c.12346C= (p.Leu4116=) n.377C= c.9304C= (p.Leu3102=) c.12427C= (p.Leu4143=) c.12424C= (p.Leu4142=) c.12409C= (p.Leu4137=) c.12403C= (p.Leu4135=) c.12400C= (p.Leu4134=) c.12373C= (p.Leu4125=) c.12355C= (p.Leu4119=) c.12301C= (p.Leu4101=) c.12220C= (p.Leu4074=) c.12163C= (p.Leu4055=) c.10249C= (p.Leu3417=) c.9427C= (p.Leu3143=) n.12267C= c.12469C= (p.Leu4157=) c.12397C= (p.Leu4133=) c.12259C= (p.Leu4087=) c.10345C= (p.Leu3449=) | |
16 | g.2090380G>T | CA394325189 | PKD1 | c.12349C>A (p.Leu4117Met) c.12346C>A (p.Leu4116Met) n.377C>A c.9304C>A (p.Leu3102Met) c.12427C>A (p.Leu4143Met) c.12424C>A (p.Leu4142Met) c.12409C>A (p.Leu4137Met) c.12403C>A (p.Leu4135Met) c.12400C>A (p.Leu4134Met) c.12373C>A (p.Leu4125Met) c.12355C>A (p.Leu4119Met) c.12301C>A (p.Leu4101Met) c.12220C>A (p.Leu4074Met) c.12163C>A (p.Leu4055Met) c.10249C>A (p.Leu3417Met) c.9427C>A (p.Leu3143Met) n.12267C>A c.12469C>A (p.Leu4157Met) c.12397C>A (p.Leu4133Met) c.12259C>A (p.Leu4087Met) c.10345C>A (p.Leu3449Met) | |
16 | g.2090380_2090381delinsGC | CA2202041570 | PKD1 | c.12348_12349delinsGC (p.Glu4116=) c.12345_12346delinsGC (p.Glu4115=) n.376_377delinsGC c.9303_9304delinsGC (p.Glu3101=) c.12426_12427delinsGC (p.Glu4142=) c.12423_12424delinsGC (p.Glu4141=) c.12408_12409delinsGC (p.Glu4136=) c.12402_12403delinsGC (p.Glu4134=) c.12399_12400delinsGC (p.Glu4133=) c.12372_12373delinsGC (p.Glu4124=) c.12354_12355delinsGC (p.Glu4118=) c.12300_12301delinsGC (p.Glu4100=) c.12219_12220delinsGC (p.Glu4073=) c.12162_12163delinsGC (p.Glu4054=) c.10248_10249delinsGC (p.Glu3416=) c.9426_9427delinsGC (p.Glu3142=) n.12266_12267delinsGC c.12468_12469delinsGC (p.Glu4156=) c.12396_12397delinsGC (p.Glu4132=) c.12258_12259delinsGC (p.Glu4086=) c.10344_10345delinsGC (p.Glu3448=) | |
16 | g.2090381del | CA913191021 | PKD1 | c.12348del (p.Glu4116AspfsTer?) c.12345del (p.Glu4115AspfsTer?) n.376del c.9303del (p.Glu3101AspfsTer?) c.12426del (p.Glu4142AspfsTer?) c.12423del (p.Glu4141AspfsTer?) c.12408del (p.Glu4136AspfsTer?) c.12402del (p.Glu4134AspfsTer?) c.12399del (p.Glu4133AspfsTer?) c.12372del (p.Glu4124AspfsTer?) c.12354del (p.Glu4118AspfsTer?) c.12300del (p.Glu4100AspfsTer?) c.12219del (p.Glu4073AspfsTer?) c.12162del (p.Glu4054AspfsTer?) c.10248del (p.Glu3416AspfsTer?) c.9426del (p.Glu3142AspfsTer?) n.12266del c.12468del (p.Glu4156AspfsTer?) c.12396del (p.Glu4132AspfsTer?) c.12258del (p.Glu4086AspfsTer?) c.10344del (p.Glu3448AspfsTer?) | ClinVar dbSNP |
16 | g.2090381C>A | CA394325195 | PKD1 | c.12348G>T (p.Glu4116Asp) c.12345G>T (p.Glu4115Asp) n.376G>T c.9303G>T (p.Glu3101Asp) c.12426G>T (p.Glu4142Asp) c.12423G>T (p.Glu4141Asp) c.12408G>T (p.Glu4136Asp) c.12402G>T (p.Glu4134Asp) c.12399G>T (p.Glu4133Asp) c.12372G>T (p.Glu4124Asp) c.12354G>T (p.Glu4118Asp) c.12300G>T (p.Glu4100Asp) c.12219G>T (p.Glu4073Asp) c.12162G>T (p.Glu4054Asp) c.10248G>T (p.Glu3416Asp) c.9426G>T (p.Glu3142Asp) n.12266G>T c.12468G>T (p.Glu4156Asp) c.12396G>T (p.Glu4132Asp) c.12258G>T (p.Glu4086Asp) c.10344G>T (p.Glu3448Asp) | |
16 | g.2090381C= | CA2202041580 | PKD1 | c.12348G= (p.Glu4116=) c.12345G= (p.Glu4115=) n.376G= c.9303G= (p.Glu3101=) c.12426G= (p.Glu4142=) c.12423G= (p.Glu4141=) c.12408G= (p.Glu4136=) c.12402G= (p.Glu4134=) c.12399G= (p.Glu4133=) c.12372G= (p.Glu4124=) c.12354G= (p.Glu4118=) c.12300G= (p.Glu4100=) c.12219G= (p.Glu4073=) c.12162G= (p.Glu4054=) c.10248G= (p.Glu3416=) c.9426G= (p.Glu3142=) n.12266G= c.12468G= (p.Glu4156=) c.12396G= (p.Glu4132=) c.12258G= (p.Glu4086=) c.10344G= (p.Glu3448=) | |
16 | g.2090381C>G | CA394325193 | PKD1 | c.12348G>C (p.Glu4116Asp) c.12345G>C (p.Glu4115Asp) n.376G>C c.9303G>C (p.Glu3101Asp) c.12426G>C (p.Glu4142Asp) c.12423G>C (p.Glu4141Asp) c.12408G>C (p.Glu4136Asp) c.12402G>C (p.Glu4134Asp) c.12399G>C (p.Glu4133Asp) c.12372G>C (p.Glu4124Asp) c.12354G>C (p.Glu4118Asp) c.12300G>C (p.Glu4100Asp) c.12219G>C (p.Glu4073Asp) c.12162G>C (p.Glu4054Asp) c.10248G>C (p.Glu3416Asp) c.9426G>C (p.Glu3142Asp) n.12266G>C c.12468G>C (p.Glu4156Asp) c.12396G>C (p.Glu4132Asp) c.12258G>C (p.Glu4086Asp) c.10344G>C (p.Glu3448Asp) | gnomAD v4 |
16 | g.2090381C>T | CA7828675 | PKD1 | c.12348G>A (p.Glu4116=) c.12345G>A (p.Glu4115=) n.376G>A c.9303G>A (p.Glu3101=) c.12426G>A (p.Glu4142=) c.12423G>A (p.Glu4141=) c.12408G>A (p.Glu4136=) c.12402G>A (p.Glu4134=) c.12399G>A (p.Glu4133=) c.12372G>A (p.Glu4124=) c.12354G>A (p.Glu4118=) c.12300G>A (p.Glu4100=) c.12219G>A (p.Glu4073=) c.12162G>A (p.Glu4054=) c.10248G>A (p.Glu3416=) c.9426G>A (p.Glu3142=) n.12266G>A c.12468G>A (p.Glu4156=) c.12396G>A (p.Glu4132=) c.12258G>A (p.Glu4086=) c.10344G>A (p.Glu3448=) | dbSNP ExAC gnomAD v4 |
16 | g.2090384_2090385del | CA2695221515 | PKD1 | c.12347_12348del (p.Glu4116AlafsTer?) c.12344_12345del (p.Glu4115AlafsTer?) n.375_376del c.9302_9303del (p.Glu3101AlafsTer?) c.12425_12426del (p.Glu4142AlafsTer?) c.12422_12423del (p.Glu4141AlafsTer?) c.12407_12408del (p.Glu4136AlafsTer?) c.12401_12402del (p.Glu4134AlafsTer?) c.12398_12399del (p.Glu4133AlafsTer?) c.12371_12372del (p.Glu4124AlafsTer?) c.12353_12354del (p.Glu4118AlafsTer?) c.12299_12300del (p.Glu4100AlafsTer?) c.12218_12219del (p.Glu4073AlafsTer?) c.12161_12162del (p.Glu4054AlafsTer?) c.10247_10248del (p.Glu3416AlafsTer?) c.9425_9426del (p.Glu3142AlafsTer?) n.12265_12266del c.12467_12468del (p.Glu4156AlafsTer?) c.12395_12396del (p.Glu4132AlafsTer?) c.12257_12258del (p.Glu4086AlafsTer?) c.10343_10344del (p.Glu3448AlafsTer?) | |
16 | g.2090382T>A | CA394325201 | PKD1 | c.12347A>T (p.Glu4116Val) c.12344A>T (p.Glu4115Val) n.375A>T c.9302A>T (p.Glu3101Val) c.12425A>T (p.Glu4142Val) c.12422A>T (p.Glu4141Val) c.12407A>T (p.Glu4136Val) c.12401A>T (p.Glu4134Val) c.12398A>T (p.Glu4133Val) c.12371A>T (p.Glu4124Val) c.12353A>T (p.Glu4118Val) c.12299A>T (p.Glu4100Val) c.12218A>T (p.Glu4073Val) c.12161A>T (p.Glu4054Val) c.10247A>T (p.Glu3416Val) c.9425A>T (p.Glu3142Val) n.12265A>T c.12467A>T (p.Glu4156Val) c.12395A>T (p.Glu4132Val) c.12257A>T (p.Glu4086Val) c.10343A>T (p.Glu3448Val) | |
16 | g.2090382T>C | CA394325204 | PKD1 | c.12347A>G (p.Glu4116Gly) c.12344A>G (p.Glu4115Gly) n.375A>G c.9302A>G (p.Glu3101Gly) c.12425A>G (p.Glu4142Gly) c.12422A>G (p.Glu4141Gly) c.12407A>G (p.Glu4136Gly) c.12401A>G (p.Glu4134Gly) c.12398A>G (p.Glu4133Gly) c.12371A>G (p.Glu4124Gly) c.12353A>G (p.Glu4118Gly) c.12299A>G (p.Glu4100Gly) c.12218A>G (p.Glu4073Gly) c.12161A>G (p.Glu4054Gly) c.10247A>G (p.Glu3416Gly) c.9425A>G (p.Glu3142Gly) n.12265A>G c.12467A>G (p.Glu4156Gly) c.12395A>G (p.Glu4132Gly) c.12257A>G (p.Glu4086Gly) c.10343A>G (p.Glu3448Gly) | |
16 | g.2090382T>G | CA394325209 | PKD1 | c.12347A>C (p.Glu4116Ala) c.12344A>C (p.Glu4115Ala) n.375A>C c.9302A>C (p.Glu3101Ala) c.12425A>C (p.Glu4142Ala) c.12422A>C (p.Glu4141Ala) c.12407A>C (p.Glu4136Ala) c.12401A>C (p.Glu4134Ala) c.12398A>C (p.Glu4133Ala) c.12371A>C (p.Glu4124Ala) c.12353A>C (p.Glu4118Ala) c.12299A>C (p.Glu4100Ala) c.12218A>C (p.Glu4073Ala) c.12161A>C (p.Glu4054Ala) c.10247A>C (p.Glu3416Ala) c.9425A>C (p.Glu3142Ala) n.12265A>C c.12467A>C (p.Glu4156Ala) c.12395A>C (p.Glu4132Ala) c.12257A>C (p.Glu4086Ala) c.10343A>C (p.Glu3448Ala) | |
16 | g.2090383C>A | CA394325211 | PKD1 | c.12346G>T (p.Glu4116Ter) c.12343G>T (p.Glu4115Ter) n.374G>T c.9301G>T (p.Glu3101Ter) c.12424G>T (p.Glu4142Ter) c.12421G>T (p.Glu4141Ter) c.12406G>T (p.Glu4136Ter) c.12400G>T (p.Glu4134Ter) c.12397G>T (p.Glu4133Ter) c.12370G>T (p.Glu4124Ter) c.12352G>T (p.Glu4118Ter) c.12298G>T (p.Glu4100Ter) c.12217G>T (p.Glu4073Ter) c.12160G>T (p.Glu4054Ter) c.10246G>T (p.Glu3416Ter) c.9424G>T (p.Glu3142Ter) n.12264G>T c.12466G>T (p.Glu4156Ter) c.12394G>T (p.Glu4132Ter) c.12256G>T (p.Glu4086Ter) c.10342G>T (p.Glu3448Ter) | |
16 | g.2090383C= | CA2202041584 | PKD1 | c.12346G= (p.Glu4116=) c.12343G= (p.Glu4115=) n.374G= c.9301G= (p.Glu3101=) c.12424G= (p.Glu4142=) c.12421G= (p.Glu4141=) c.12406G= (p.Glu4136=) c.12400G= (p.Glu4134=) c.12397G= (p.Glu4133=) c.12370G= (p.Glu4124=) c.12352G= (p.Glu4118=) c.12298G= (p.Glu4100=) c.12217G= (p.Glu4073=) c.12160G= (p.Glu4054=) c.10246G= (p.Glu3416=) c.9424G= (p.Glu3142=) n.12264G= c.12466G= (p.Glu4156=) c.12394G= (p.Glu4132=) c.12256G= (p.Glu4086=) c.10342G= (p.Glu3448=) | |
16 | g.2090383C>G | CA394325213 | PKD1 | c.12346G>C (p.Glu4116Gln) c.12343G>C (p.Glu4115Gln) n.374G>C c.9301G>C (p.Glu3101Gln) c.12424G>C (p.Glu4142Gln) c.12421G>C (p.Glu4141Gln) c.12406G>C (p.Glu4136Gln) c.12400G>C (p.Glu4134Gln) c.12397G>C (p.Glu4133Gln) c.12370G>C (p.Glu4124Gln) c.12352G>C (p.Glu4118Gln) c.12298G>C (p.Glu4100Gln) c.12217G>C (p.Glu4073Gln) c.12160G>C (p.Glu4054Gln) c.10246G>C (p.Glu3416Gln) c.9424G>C (p.Glu3142Gln) n.12264G>C c.12466G>C (p.Glu4156Gln) c.12394G>C (p.Glu4132Gln) c.12256G>C (p.Glu4086Gln) c.10342G>C (p.Glu3448Gln) | |
16 | g.2090383C>T | CA394325214 | PKD1 | c.12346G>A (p.Glu4116Lys) c.12343G>A (p.Glu4115Lys) n.374G>A c.9301G>A (p.Glu3101Lys) c.12424G>A (p.Glu4142Lys) c.12421G>A (p.Glu4141Lys) c.12406G>A (p.Glu4136Lys) c.12400G>A (p.Glu4134Lys) c.12397G>A (p.Glu4133Lys) c.12370G>A (p.Glu4124Lys) c.12352G>A (p.Glu4118Lys) c.12298G>A (p.Glu4100Lys) c.12217G>A (p.Glu4073Lys) c.12160G>A (p.Glu4054Lys) c.10246G>A (p.Glu3416Lys) c.9424G>A (p.Glu3142Lys) n.12264G>A c.12466G>A (p.Glu4156Lys) c.12394G>A (p.Glu4132Lys) c.12256G>A (p.Glu4086Lys) c.10342G>A (p.Glu3448Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.2090384T>A | CA493044318 | PKD1 | c.12345A>T (p.Gly4115=) c.12342A>T (p.Gly4114=) n.373A>T c.9300A>T (p.Gly3100=) c.12423A>T (p.Gly4141=) c.12420A>T (p.Gly4140=) c.12405A>T (p.Gly4135=) c.12399A>T (p.Gly4133=) c.12396A>T (p.Gly4132=) c.12369A>T (p.Gly4123=) c.12351A>T (p.Gly4117=) c.12297A>T (p.Gly4099=) c.12216A>T (p.Gly4072=) c.12159A>T (p.Gly4053=) c.10245A>T (p.Gly3415=) c.9423A>T (p.Gly3141=) n.12263A>T c.12465A>T (p.Gly4155=) c.12393A>T (p.Gly4131=) c.12255A>T (p.Gly4085=) c.10341A>T (p.Gly3447=) | |
16 | g.2090384T>C | CA493044320 | PKD1 | c.12345A>G (p.Gly4115=) c.12342A>G (p.Gly4114=) n.373A>G c.9300A>G (p.Gly3100=) c.12423A>G (p.Gly4141=) c.12420A>G (p.Gly4140=) c.12405A>G (p.Gly4135=) c.12399A>G (p.Gly4133=) c.12396A>G (p.Gly4132=) c.12369A>G (p.Gly4123=) c.12351A>G (p.Gly4117=) c.12297A>G (p.Gly4099=) c.12216A>G (p.Gly4072=) c.12159A>G (p.Gly4053=) c.10245A>G (p.Gly3415=) c.9423A>G (p.Gly3141=) n.12263A>G c.12465A>G (p.Gly4155=) c.12393A>G (p.Gly4131=) c.12255A>G (p.Gly4085=) c.10341A>G (p.Gly3447=) | dbSNP gnomAD v4 |
16 | g.2090384T>G | CA493044321 | PKD1 | c.12345A>C (p.Gly4115=) c.12342A>C (p.Gly4114=) n.373A>C c.9300A>C (p.Gly3100=) c.12423A>C (p.Gly4141=) c.12420A>C (p.Gly4140=) c.12405A>C (p.Gly4135=) c.12399A>C (p.Gly4133=) c.12396A>C (p.Gly4132=) c.12369A>C (p.Gly4123=) c.12351A>C (p.Gly4117=) c.12297A>C (p.Gly4099=) c.12216A>C (p.Gly4072=) c.12159A>C (p.Gly4053=) c.10245A>C (p.Gly3415=) c.9423A>C (p.Gly3141=) n.12263A>C c.12465A>C (p.Gly4155=) c.12393A>C (p.Gly4131=) c.12255A>C (p.Gly4085=) c.10341A>C (p.Gly3447=) | |
16 | g.2090384T= | CA2202041588 | PKD1 | c.12345A= (p.Gly4115=) c.12342A= (p.Gly4114=) n.373A= c.9300A= (p.Gly3100=) c.12423A= (p.Gly4141=) c.12420A= (p.Gly4140=) c.12405A= (p.Gly4135=) c.12399A= (p.Gly4133=) c.12396A= (p.Gly4132=) c.12369A= (p.Gly4123=) c.12351A= (p.Gly4117=) c.12297A= (p.Gly4099=) c.12216A= (p.Gly4072=) c.12159A= (p.Gly4053=) c.10245A= (p.Gly3415=) c.9423A= (p.Gly3141=) n.12263A= c.12465A= (p.Gly4155=) c.12393A= (p.Gly4131=) c.12255A= (p.Gly4085=) c.10341A= (p.Gly3447=) | |
16 | g.2090385C>A | CA394325217 | PKD1 | c.12344G>T (p.Gly4115Val) c.12341G>T (p.Gly4114Val) n.372G>T c.9299G>T (p.Gly3100Val) c.12422G>T (p.Gly4141Val) c.12419G>T (p.Gly4140Val) c.12404G>T (p.Gly4135Val) c.12398G>T (p.Gly4133Val) c.12395G>T (p.Gly4132Val) c.12368G>T (p.Gly4123Val) c.12350G>T (p.Gly4117Val) c.12296G>T (p.Gly4099Val) c.12215G>T (p.Gly4072Val) c.12158G>T (p.Gly4053Val) c.10244G>T (p.Gly3415Val) c.9422G>T (p.Gly3141Val) n.12262G>T c.12464G>T (p.Gly4155Val) c.12392G>T (p.Gly4131Val) c.12254G>T (p.Gly4085Val) c.10340G>T (p.Gly3447Val) | |
16 | g.2090385C>G | CA394325224 | PKD1 | c.12344G>C (p.Gly4115Ala) c.12341G>C (p.Gly4114Ala) n.372G>C c.9299G>C (p.Gly3100Ala) c.12422G>C (p.Gly4141Ala) c.12419G>C (p.Gly4140Ala) c.12404G>C (p.Gly4135Ala) c.12398G>C (p.Gly4133Ala) c.12395G>C (p.Gly4132Ala) c.12368G>C (p.Gly4123Ala) c.12350G>C (p.Gly4117Ala) c.12296G>C (p.Gly4099Ala) c.12215G>C (p.Gly4072Ala) c.12158G>C (p.Gly4053Ala) c.10244G>C (p.Gly3415Ala) c.9422G>C (p.Gly3141Ala) n.12262G>C c.12464G>C (p.Gly4155Ala) c.12392G>C (p.Gly4131Ala) c.12254G>C (p.Gly4085Ala) c.10340G>C (p.Gly3447Ala) | gnomAD v4 |
16 | g.2090385C>T | CA394325221 | PKD1 | c.12344G>A (p.Gly4115Glu) c.12341G>A (p.Gly4114Glu) n.372G>A c.9299G>A (p.Gly3100Glu) c.12422G>A (p.Gly4141Glu) c.12419G>A (p.Gly4140Glu) c.12404G>A (p.Gly4135Glu) c.12398G>A (p.Gly4133Glu) c.12395G>A (p.Gly4132Glu) c.12368G>A (p.Gly4123Glu) c.12350G>A (p.Gly4117Glu) c.12296G>A (p.Gly4099Glu) c.12215G>A (p.Gly4072Glu) c.12158G>A (p.Gly4053Glu) c.10244G>A (p.Gly3415Glu) c.9422G>A (p.Gly3141Glu) n.12262G>A c.12464G>A (p.Gly4155Glu) c.12392G>A (p.Gly4131Glu) c.12254G>A (p.Gly4085Glu) c.10340G>A (p.Gly3447Glu) | gnomAD v4 |
16 | g.2090386dup | CA915948974 | PKD1 | c.12344dup (p.Glu4116ArgfsTer?) c.12341dup (p.Glu4115ArgfsTer?) n.372dup c.9299dup (p.Glu3101ArgfsTer?) c.12422dup (p.Glu4142ArgfsTer?) c.12419dup (p.Glu4141ArgfsTer?) c.12404dup (p.Glu4136ArgfsTer?) c.12398dup (p.Glu4134ArgfsTer?) c.12395dup (p.Glu4133ArgfsTer?) c.12368dup (p.Glu4124ArgfsTer?) c.12350dup (p.Glu4118ArgfsTer?) c.12296dup (p.Glu4100ArgfsTer?) c.12215dup (p.Glu4073ArgfsTer?) c.12158dup (p.Glu4054ArgfsTer?) c.10244dup (p.Glu3416ArgfsTer?) c.9422dup (p.Glu3142ArgfsTer?) n.12262dup c.12464dup (p.Glu4156ArgfsTer?) c.12392dup (p.Glu4132ArgfsTer?) c.12254dup (p.Glu4086ArgfsTer?) c.10340dup (p.Glu3448ArgfsTer?) | ClinVar dbSNP |
16 | g.2090386C>A | CA394325226 | PKD1 | c.12343G>T (p.Gly4115Ter) c.12340G>T (p.Gly4114Ter) n.371G>T c.9298G>T (p.Gly3100Ter) c.12421G>T (p.Gly4141Ter) c.12418G>T (p.Gly4140Ter) c.12403G>T (p.Gly4135Ter) c.12397G>T (p.Gly4133Ter) c.12394G>T (p.Gly4132Ter) c.12367G>T (p.Gly4123Ter) c.12349G>T (p.Gly4117Ter) c.12295G>T (p.Gly4099Ter) c.12214G>T (p.Gly4072Ter) c.12157G>T (p.Gly4053Ter) c.10243G>T (p.Gly3415Ter) c.9421G>T (p.Gly3141Ter) n.12261G>T c.12463G>T (p.Gly4155Ter) c.12391G>T (p.Gly4131Ter) c.12253G>T (p.Gly4085Ter) c.10339G>T (p.Gly3447Ter) | |
16 | g.2090386C>G | CA394325228 | PKD1 | c.12343G>C (p.Gly4115Arg) c.12340G>C (p.Gly4114Arg) n.371G>C c.9298G>C (p.Gly3100Arg) c.12421G>C (p.Gly4141Arg) c.12418G>C (p.Gly4140Arg) c.12403G>C (p.Gly4135Arg) c.12397G>C (p.Gly4133Arg) c.12394G>C (p.Gly4132Arg) c.12367G>C (p.Gly4123Arg) c.12349G>C (p.Gly4117Arg) c.12295G>C (p.Gly4099Arg) c.12214G>C (p.Gly4072Arg) c.12157G>C (p.Gly4053Arg) c.10243G>C (p.Gly3415Arg) c.9421G>C (p.Gly3141Arg) n.12261G>C c.12463G>C (p.Gly4155Arg) c.12391G>C (p.Gly4131Arg) c.12253G>C (p.Gly4085Arg) c.10339G>C (p.Gly3447Arg) | |
16 | g.2090386C>T | CA394325231 | PKD1 | c.12343G>A (p.Gly4115Arg) c.12340G>A (p.Gly4114Arg) n.371G>A c.9298G>A (p.Gly3100Arg) c.12421G>A (p.Gly4141Arg) c.12418G>A (p.Gly4140Arg) c.12403G>A (p.Gly4135Arg) c.12397G>A (p.Gly4133Arg) c.12394G>A (p.Gly4132Arg) c.12367G>A (p.Gly4123Arg) c.12349G>A (p.Gly4117Arg) c.12295G>A (p.Gly4099Arg) c.12214G>A (p.Gly4072Arg) c.12157G>A (p.Gly4053Arg) c.10243G>A (p.Gly3415Arg) c.9421G>A (p.Gly3141Arg) n.12261G>A c.12463G>A (p.Gly4155Arg) c.12391G>A (p.Gly4131Arg) c.12253G>A (p.Gly4085Arg) c.10339G>A (p.Gly3447Arg) | |
16 | g.2090387A= | CA2202041594 | PKD1 | c.12342T= (p.Arg4114=) c.12339T= (p.Arg4113=) n.370T= c.9297T= (p.Arg3099=) c.12420T= (p.Arg4140=) c.12417T= (p.Arg4139=) c.12402T= (p.Arg4134=) c.12396T= (p.Arg4132=) c.12393T= (p.Arg4131=) c.12366T= (p.Arg4122=) c.12348T= (p.Arg4116=) c.12294T= (p.Arg4098=) c.12213T= (p.Arg4071=) c.12156T= (p.Arg4052=) c.10242T= (p.Arg3414=) c.9420T= (p.Arg3140=) n.12260T= c.12462T= (p.Arg4154=) c.12390T= (p.Arg4130=) c.12252T= (p.Arg4084=) c.10338T= (p.Arg3446=) | |
16 | g.2090387A>C | CA7828676 | PKD1 | c.12342T>G (p.Arg4114=) c.12339T>G (p.Arg4113=) n.370T>G c.9297T>G (p.Arg3099=) c.12420T>G (p.Arg4140=) c.12417T>G (p.Arg4139=) c.12402T>G (p.Arg4134=) c.12396T>G (p.Arg4132=) c.12393T>G (p.Arg4131=) c.12366T>G (p.Arg4122=) c.12348T>G (p.Arg4116=) c.12294T>G (p.Arg4098=) c.12213T>G (p.Arg4071=) c.12156T>G (p.Arg4052=) c.10242T>G (p.Arg3414=) c.9420T>G (p.Arg3140=) n.12260T>G c.12462T>G (p.Arg4154=) c.12390T>G (p.Arg4130=) c.12252T>G (p.Arg4084=) c.10338T>G (p.Arg3446=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090387A>G | CA493044325 | PKD1 | c.12342T>C (p.Arg4114=) c.12339T>C (p.Arg4113=) n.370T>C c.9297T>C (p.Arg3099=) c.12420T>C (p.Arg4140=) c.12417T>C (p.Arg4139=) c.12402T>C (p.Arg4134=) c.12396T>C (p.Arg4132=) c.12393T>C (p.Arg4131=) c.12366T>C (p.Arg4122=) c.12348T>C (p.Arg4116=) c.12294T>C (p.Arg4098=) c.12213T>C (p.Arg4071=) c.12156T>C (p.Arg4052=) c.10242T>C (p.Arg3414=) c.9420T>C (p.Arg3140=) n.12260T>C c.12462T>C (p.Arg4154=) c.12390T>C (p.Arg4130=) c.12252T>C (p.Arg4084=) c.10338T>C (p.Arg3446=) | |
16 | g.2090387A>T | CA493044326 | PKD1 | c.12342T>A (p.Arg4114=) c.12339T>A (p.Arg4113=) n.370T>A c.9297T>A (p.Arg3099=) c.12420T>A (p.Arg4140=) c.12417T>A (p.Arg4139=) c.12402T>A (p.Arg4134=) c.12396T>A (p.Arg4132=) c.12393T>A (p.Arg4131=) c.12366T>A (p.Arg4122=) c.12348T>A (p.Arg4116=) c.12294T>A (p.Arg4098=) c.12213T>A (p.Arg4071=) c.12156T>A (p.Arg4052=) c.10242T>A (p.Arg3414=) c.9420T>A (p.Arg3140=) n.12260T>A c.12462T>A (p.Arg4154=) c.12390T>A (p.Arg4130=) c.12252T>A (p.Arg4084=) c.10338T>A (p.Arg3446=) | |
16 | g.2090388C>A | CA394325240 | PKD1 | c.12341G>T (p.Arg4114Leu) c.12338G>T (p.Arg4113Leu) n.369G>T c.9296G>T (p.Arg3099Leu) c.12419G>T (p.Arg4140Leu) c.12416G>T (p.Arg4139Leu) c.12401G>T (p.Arg4134Leu) c.12395G>T (p.Arg4132Leu) c.12392G>T (p.Arg4131Leu) c.12365G>T (p.Arg4122Leu) c.12347G>T (p.Arg4116Leu) c.12293G>T (p.Arg4098Leu) c.12212G>T (p.Arg4071Leu) c.12155G>T (p.Arg4052Leu) c.10241G>T (p.Arg3414Leu) c.9419G>T (p.Arg3140Leu) n.12259G>T c.12461G>T (p.Arg4154Leu) c.12389G>T (p.Arg4130Leu) c.12251G>T (p.Arg4084Leu) c.10337G>T (p.Arg3446Leu) | dbSNP gnomAD v4 |
16 | g.2090388C= | CA2202041597 | PKD1 | c.12341G= (p.Arg4114=) c.12338G= (p.Arg4113=) n.369G= c.9296G= (p.Arg3099=) c.12419G= (p.Arg4140=) c.12416G= (p.Arg4139=) c.12401G= (p.Arg4134=) c.12395G= (p.Arg4132=) c.12392G= (p.Arg4131=) c.12365G= (p.Arg4122=) c.12347G= (p.Arg4116=) c.12293G= (p.Arg4098=) c.12212G= (p.Arg4071=) c.12155G= (p.Arg4052=) c.10241G= (p.Arg3414=) c.9419G= (p.Arg3140=) n.12259G= c.12461G= (p.Arg4154=) c.12389G= (p.Arg4130=) c.12251G= (p.Arg4084=) c.10337G= (p.Arg3446=) | |
16 | g.2090388C>G | CA394325246 | PKD1 | c.12341G>C (p.Arg4114Pro) c.12338G>C (p.Arg4113Pro) n.369G>C c.9296G>C (p.Arg3099Pro) c.12419G>C (p.Arg4140Pro) c.12416G>C (p.Arg4139Pro) c.12401G>C (p.Arg4134Pro) c.12395G>C (p.Arg4132Pro) c.12392G>C (p.Arg4131Pro) c.12365G>C (p.Arg4122Pro) c.12347G>C (p.Arg4116Pro) c.12293G>C (p.Arg4098Pro) c.12212G>C (p.Arg4071Pro) c.12155G>C (p.Arg4052Pro) c.10241G>C (p.Arg3414Pro) c.9419G>C (p.Arg3140Pro) n.12259G>C c.12461G>C (p.Arg4154Pro) c.12389G>C (p.Arg4130Pro) c.12251G>C (p.Arg4084Pro) c.10337G>C (p.Arg3446Pro) | |
16 | g.2090388C>T | CA7828677 | PKD1 | c.12341G>A (p.Arg4114His) c.12338G>A (p.Arg4113His) n.369G>A c.9296G>A (p.Arg3099His) c.12419G>A (p.Arg4140His) c.12416G>A (p.Arg4139His) c.12401G>A (p.Arg4134His) c.12395G>A (p.Arg4132His) c.12392G>A (p.Arg4131His) c.12365G>A (p.Arg4122His) c.12347G>A (p.Arg4116His) c.12293G>A (p.Arg4098His) c.12212G>A (p.Arg4071His) c.12155G>A (p.Arg4052His) c.10241G>A (p.Arg3414His) c.9419G>A (p.Arg3140His) n.12259G>A c.12461G>A (p.Arg4154His) c.12389G>A (p.Arg4130His) c.12251G>A (p.Arg4084His) c.10337G>A (p.Arg3446His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090389G>A | CA394325254 | PKD1 | c.12340C>T (p.Arg4114Cys) c.12337C>T (p.Arg4113Cys) n.368C>T c.9295C>T (p.Arg3099Cys) c.12418C>T (p.Arg4140Cys) c.12415C>T (p.Arg4139Cys) c.12400C>T (p.Arg4134Cys) c.12394C>T (p.Arg4132Cys) c.12391C>T (p.Arg4131Cys) c.12364C>T (p.Arg4122Cys) c.12346C>T (p.Arg4116Cys) c.12292C>T (p.Arg4098Cys) c.12211C>T (p.Arg4071Cys) c.12154C>T (p.Arg4052Cys) c.10240C>T (p.Arg3414Cys) c.9418C>T (p.Arg3140Cys) n.12258C>T c.12460C>T (p.Arg4154Cys) c.12388C>T (p.Arg4130Cys) c.12250C>T (p.Arg4084Cys) c.10336C>T (p.Arg3446Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090389G>C | CA394325256 | PKD1 | c.12340C>G (p.Arg4114Gly) c.12337C>G (p.Arg4113Gly) n.368C>G c.9295C>G (p.Arg3099Gly) c.12418C>G (p.Arg4140Gly) c.12415C>G (p.Arg4139Gly) c.12400C>G (p.Arg4134Gly) c.12394C>G (p.Arg4132Gly) c.12391C>G (p.Arg4131Gly) c.12364C>G (p.Arg4122Gly) c.12346C>G (p.Arg4116Gly) c.12292C>G (p.Arg4098Gly) c.12211C>G (p.Arg4071Gly) c.12154C>G (p.Arg4052Gly) c.10240C>G (p.Arg3414Gly) c.9418C>G (p.Arg3140Gly) n.12258C>G c.12460C>G (p.Arg4154Gly) c.12388C>G (p.Arg4130Gly) c.12250C>G (p.Arg4084Gly) c.10336C>G (p.Arg3446Gly) | |
16 | g.2090389G= | CA2202041602 | PKD1 | c.12340C= (p.Arg4114=) c.12337C= (p.Arg4113=) n.368C= c.9295C= (p.Arg3099=) c.12418C= (p.Arg4140=) c.12415C= (p.Arg4139=) c.12400C= (p.Arg4134=) c.12394C= (p.Arg4132=) c.12391C= (p.Arg4131=) c.12364C= (p.Arg4122=) c.12346C= (p.Arg4116=) c.12292C= (p.Arg4098=) c.12211C= (p.Arg4071=) c.12154C= (p.Arg4052=) c.10240C= (p.Arg3414=) c.9418C= (p.Arg3140=) n.12258C= c.12460C= (p.Arg4154=) c.12388C= (p.Arg4130=) c.12250C= (p.Arg4084=) c.10336C= (p.Arg3446=) | |
16 | g.2090389G>T | CA394325260 | PKD1 | c.12340C>A (p.Arg4114Ser) c.12337C>A (p.Arg4113Ser) n.368C>A c.9295C>A (p.Arg3099Ser) c.12418C>A (p.Arg4140Ser) c.12415C>A (p.Arg4139Ser) c.12400C>A (p.Arg4134Ser) c.12394C>A (p.Arg4132Ser) c.12391C>A (p.Arg4131Ser) c.12364C>A (p.Arg4122Ser) c.12346C>A (p.Arg4116Ser) c.12292C>A (p.Arg4098Ser) c.12211C>A (p.Arg4071Ser) c.12154C>A (p.Arg4052Ser) c.10240C>A (p.Arg3414Ser) c.9418C>A (p.Arg3140Ser) n.12258C>A c.12460C>A (p.Arg4154Ser) c.12388C>A (p.Arg4130Ser) c.12250C>A (p.Arg4084Ser) c.10336C>A (p.Arg3446Ser) | gnomAD v4 |
16 | g.2090390C>A | CA394325264 | PKD1 | c.12339G>T (p.Leu4113Phe) c.12336G>T (p.Leu4112Phe) n.367G>T c.9294G>T (p.Leu3098Phe) c.12417G>T (p.Leu4139Phe) c.12414G>T (p.Leu4138Phe) c.12399G>T (p.Leu4133Phe) c.12393G>T (p.Leu4131Phe) c.12390G>T (p.Leu4130Phe) c.12363G>T (p.Leu4121Phe) c.12345G>T (p.Leu4115Phe) c.12291G>T (p.Leu4097Phe) c.12210G>T (p.Leu4070Phe) c.12153G>T (p.Leu4051Phe) c.10239G>T (p.Leu3413Phe) c.9417G>T (p.Leu3139Phe) n.12257G>T c.12459G>T (p.Leu4153Phe) c.12387G>T (p.Leu4129Phe) c.12249G>T (p.Leu4083Phe) c.10335G>T (p.Leu3445Phe) | gnomAD v4 |
16 | g.2090390C= | CA2202041605 | PKD1 | c.12339G= (p.Leu4113=) c.12336G= (p.Leu4112=) n.367G= c.9294G= (p.Leu3098=) c.12417G= (p.Leu4139=) c.12414G= (p.Leu4138=) c.12399G= (p.Leu4133=) c.12393G= (p.Leu4131=) c.12390G= (p.Leu4130=) c.12363G= (p.Leu4121=) c.12345G= (p.Leu4115=) c.12291G= (p.Leu4097=) c.12210G= (p.Leu4070=) c.12153G= (p.Leu4051=) c.10239G= (p.Leu3413=) c.9417G= (p.Leu3139=) n.12257G= c.12459G= (p.Leu4153=) c.12387G= (p.Leu4129=) c.12249G= (p.Leu4083=) c.10335G= (p.Leu3445=) | |
16 | g.2090390C>G | CA394325269 | PKD1 | c.12339G>C (p.Leu4113Phe) c.12336G>C (p.Leu4112Phe) n.367G>C c.9294G>C (p.Leu3098Phe) c.12417G>C (p.Leu4139Phe) c.12414G>C (p.Leu4138Phe) c.12399G>C (p.Leu4133Phe) c.12393G>C (p.Leu4131Phe) c.12390G>C (p.Leu4130Phe) c.12363G>C (p.Leu4121Phe) c.12345G>C (p.Leu4115Phe) c.12291G>C (p.Leu4097Phe) c.12210G>C (p.Leu4070Phe) c.12153G>C (p.Leu4051Phe) c.10239G>C (p.Leu3413Phe) c.9417G>C (p.Leu3139Phe) n.12257G>C c.12459G>C (p.Leu4153Phe) c.12387G>C (p.Leu4129Phe) c.12249G>C (p.Leu4083Phe) c.10335G>C (p.Leu3445Phe) | |
16 | g.2090390C>T | CA7828678 | PKD1 | c.12339G>A (p.Leu4113=) c.12336G>A (p.Leu4112=) n.367G>A c.9294G>A (p.Leu3098=) c.12417G>A (p.Leu4139=) c.12414G>A (p.Leu4138=) c.12399G>A (p.Leu4133=) c.12393G>A (p.Leu4131=) c.12390G>A (p.Leu4130=) c.12363G>A (p.Leu4121=) c.12345G>A (p.Leu4115=) c.12291G>A (p.Leu4097=) c.12210G>A (p.Leu4070=) c.12153G>A (p.Leu4051=) c.10239G>A (p.Leu3413=) c.9417G>A (p.Leu3139=) n.12257G>A c.12459G>A (p.Leu4153=) c.12387G>A (p.Leu4129=) c.12249G>A (p.Leu4083=) c.10335G>A (p.Leu3445=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090391A= | CA2202041607 | PKD1 | c.12338T= (p.Leu4113=) c.12335T= (p.Leu4112=) n.366T= c.9293T= (p.Leu3098=) c.12416T= (p.Leu4139=) c.12413T= (p.Leu4138=) c.12398T= (p.Leu4133=) c.12392T= (p.Leu4131=) c.12389T= (p.Leu4130=) c.12362T= (p.Leu4121=) c.12344T= (p.Leu4115=) c.12290T= (p.Leu4097=) c.12209T= (p.Leu4070=) c.12152T= (p.Leu4051=) c.10238T= (p.Leu3413=) c.9416T= (p.Leu3139=) n.12256T= c.12458T= (p.Leu4153=) c.12386T= (p.Leu4129=) c.12248T= (p.Leu4083=) c.10334T= (p.Leu3445=) | |
16 | g.2090391A>C | CA394325275 | PKD1 | c.12338T>G (p.Leu4113Trp) c.12335T>G (p.Leu4112Trp) n.366T>G c.9293T>G (p.Leu3098Trp) c.12416T>G (p.Leu4139Trp) c.12413T>G (p.Leu4138Trp) c.12398T>G (p.Leu4133Trp) c.12392T>G (p.Leu4131Trp) c.12389T>G (p.Leu4130Trp) c.12362T>G (p.Leu4121Trp) c.12344T>G (p.Leu4115Trp) c.12290T>G (p.Leu4097Trp) c.12209T>G (p.Leu4070Trp) c.12152T>G (p.Leu4051Trp) c.10238T>G (p.Leu3413Trp) c.9416T>G (p.Leu3139Trp) n.12256T>G c.12458T>G (p.Leu4153Trp) c.12386T>G (p.Leu4129Trp) c.12248T>G (p.Leu4083Trp) c.10334T>G (p.Leu3445Trp) | |
16 | g.2090391A>G | CA7828679 | PKD1 | c.12338T>C (p.Leu4113Ser) c.12335T>C (p.Leu4112Ser) n.366T>C c.9293T>C (p.Leu3098Ser) c.12416T>C (p.Leu4139Ser) c.12413T>C (p.Leu4138Ser) c.12398T>C (p.Leu4133Ser) c.12392T>C (p.Leu4131Ser) c.12389T>C (p.Leu4130Ser) c.12362T>C (p.Leu4121Ser) c.12344T>C (p.Leu4115Ser) c.12290T>C (p.Leu4097Ser) c.12209T>C (p.Leu4070Ser) c.12152T>C (p.Leu4051Ser) c.10238T>C (p.Leu3413Ser) c.9416T>C (p.Leu3139Ser) n.12256T>C c.12458T>C (p.Leu4153Ser) c.12386T>C (p.Leu4129Ser) c.12248T>C (p.Leu4083Ser) c.10334T>C (p.Leu3445Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090391A>T | CA394325273 | PKD1 | c.12338T>A (p.Leu4113Ter) c.12335T>A (p.Leu4112Ter) n.366T>A c.9293T>A (p.Leu3098Ter) c.12416T>A (p.Leu4139Ter) c.12413T>A (p.Leu4138Ter) c.12398T>A (p.Leu4133Ter) c.12392T>A (p.Leu4131Ter) c.12389T>A (p.Leu4130Ter) c.12362T>A (p.Leu4121Ter) c.12344T>A (p.Leu4115Ter) c.12290T>A (p.Leu4097Ter) c.12209T>A (p.Leu4070Ter) c.12152T>A (p.Leu4051Ter) c.10238T>A (p.Leu3413Ter) c.9416T>A (p.Leu3139Ter) n.12256T>A c.12458T>A (p.Leu4153Ter) c.12386T>A (p.Leu4129Ter) c.12248T>A (p.Leu4083Ter) c.10334T>A (p.Leu3445Ter) | |
16 | g.2090392A= | CA2202041613 | PKD1 | c.12337T= (p.Leu4113=) c.12334T= (p.Leu4112=) n.365T= c.9292T= (p.Leu3098=) c.12415T= (p.Leu4139=) c.12412T= (p.Leu4138=) c.12397T= (p.Leu4133=) c.12391T= (p.Leu4131=) c.12388T= (p.Leu4130=) c.12361T= (p.Leu4121=) c.12343T= (p.Leu4115=) c.12289T= (p.Leu4097=) c.12208T= (p.Leu4070=) c.12151T= (p.Leu4051=) c.10237T= (p.Leu3413=) c.9415T= (p.Leu3139=) n.12255T= c.12457T= (p.Leu4153=) c.12385T= (p.Leu4129=) c.12247T= (p.Leu4083=) c.10333T= (p.Leu3445=) | |
16 | g.2090392A>C | CA394325282 | PKD1 | c.12337T>G (p.Leu4113Val) c.12334T>G (p.Leu4112Val) n.365T>G c.9292T>G (p.Leu3098Val) c.12415T>G (p.Leu4139Val) c.12412T>G (p.Leu4138Val) c.12397T>G (p.Leu4133Val) c.12391T>G (p.Leu4131Val) c.12388T>G (p.Leu4130Val) c.12361T>G (p.Leu4121Val) c.12343T>G (p.Leu4115Val) c.12289T>G (p.Leu4097Val) c.12208T>G (p.Leu4070Val) c.12151T>G (p.Leu4051Val) c.10237T>G (p.Leu3413Val) c.9415T>G (p.Leu3139Val) n.12255T>G c.12457T>G (p.Leu4153Val) c.12385T>G (p.Leu4129Val) c.12247T>G (p.Leu4083Val) c.10333T>G (p.Leu3445Val) | |
16 | g.2090392A>G | CA493044336 | PKD1 | c.12337T>C (p.Leu4113=) c.12334T>C (p.Leu4112=) n.365T>C c.9292T>C (p.Leu3098=) c.12415T>C (p.Leu4139=) c.12412T>C (p.Leu4138=) c.12397T>C (p.Leu4133=) c.12391T>C (p.Leu4131=) c.12388T>C (p.Leu4130=) c.12361T>C (p.Leu4121=) c.12343T>C (p.Leu4115=) c.12289T>C (p.Leu4097=) c.12208T>C (p.Leu4070=) c.12151T>C (p.Leu4051=) c.10237T>C (p.Leu3413=) c.9415T>C (p.Leu3139=) n.12255T>C c.12457T>C (p.Leu4153=) c.12385T>C (p.Leu4129=) c.12247T>C (p.Leu4083=) c.10333T>C (p.Leu3445=) | dbSNP gnomAD v4 |
16 | g.2090392A>T | CA394325285 | PKD1 | c.12337T>A (p.Leu4113Met) c.12334T>A (p.Leu4112Met) n.365T>A c.9292T>A (p.Leu3098Met) c.12415T>A (p.Leu4139Met) c.12412T>A (p.Leu4138Met) c.12397T>A (p.Leu4133Met) c.12391T>A (p.Leu4131Met) c.12388T>A (p.Leu4130Met) c.12361T>A (p.Leu4121Met) c.12343T>A (p.Leu4115Met) c.12289T>A (p.Leu4097Met) c.12208T>A (p.Leu4070Met) c.12151T>A (p.Leu4051Met) c.10237T>A (p.Leu3413Met) c.9415T>A (p.Leu3139Met) n.12255T>A c.12457T>A (p.Leu4153Met) c.12385T>A (p.Leu4129Met) c.12247T>A (p.Leu4083Met) c.10333T>A (p.Leu3445Met) | |
16 | g.2090392_2090393delinsAG | CA2202041616 | PKD1 | c.12336_12337delinsCT (p.Ala4112=) c.12333_12334delinsCT (p.Ala4111=) n.364_365delinsCT c.9291_9292delinsCT (p.Ala3097=) c.12414_12415delinsCT (p.Ala4138=) c.12411_12412delinsCT (p.Ala4137=) c.12396_12397delinsCT (p.Ala4132=) c.12390_12391delinsCT (p.Ala4130=) c.12387_12388delinsCT (p.Ala4129=) c.12360_12361delinsCT (p.Ala4120=) c.12342_12343delinsCT (p.Ala4114=) c.12288_12289delinsCT (p.Ala4096=) c.12207_12208delinsCT (p.Ala4069=) c.12150_12151delinsCT (p.Ala4050=) c.10236_10237delinsCT (p.Ala3412=) c.9414_9415delinsCT (p.Ala3138=) n.12254_12255delinsCT c.12456_12457delinsCT (p.Ala4152=) c.12384_12385delinsCT (p.Ala4128=) c.12246_12247delinsCT (p.Ala4082=) c.10332_10333delinsCT (p.Ala3444=) | |
16 | g.2090393G>A | CA7828680 | PKD1 | c.12336C>T (p.Ala4112=) c.12333C>T (p.Ala4111=) n.364C>T c.9291C>T (p.Ala3097=) c.12414C>T (p.Ala4138=) c.12411C>T (p.Ala4137=) c.12396C>T (p.Ala4132=) c.12390C>T (p.Ala4130=) c.12387C>T (p.Ala4129=) c.12360C>T (p.Ala4120=) c.12342C>T (p.Ala4114=) c.12288C>T (p.Ala4096=) c.12207C>T (p.Ala4069=) c.12150C>T (p.Ala4050=) c.10236C>T (p.Ala3412=) c.9414C>T (p.Ala3138=) n.12254C>T c.12456C>T (p.Ala4152=) c.12384C>T (p.Ala4128=) c.12246C>T (p.Ala4082=) c.10332C>T (p.Ala3444=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090393G>C | CA493044338 | PKD1 | c.12336C>G (p.Ala4112=) c.12333C>G (p.Ala4111=) n.364C>G c.9291C>G (p.Ala3097=) c.12414C>G (p.Ala4138=) c.12411C>G (p.Ala4137=) c.12396C>G (p.Ala4132=) c.12390C>G (p.Ala4130=) c.12387C>G (p.Ala4129=) c.12360C>G (p.Ala4120=) c.12342C>G (p.Ala4114=) c.12288C>G (p.Ala4096=) c.12207C>G (p.Ala4069=) c.12150C>G (p.Ala4050=) c.10236C>G (p.Ala3412=) c.9414C>G (p.Ala3138=) n.12254C>G c.12456C>G (p.Ala4152=) c.12384C>G (p.Ala4128=) c.12246C>G (p.Ala4082=) c.10332C>G (p.Ala3444=) | |
16 | g.2090393G= | CA2202041625 | PKD1 | c.12336C= (p.Ala4112=) c.12333C= (p.Ala4111=) n.364C= c.9291C= (p.Ala3097=) c.12414C= (p.Ala4138=) c.12411C= (p.Ala4137=) c.12396C= (p.Ala4132=) c.12390C= (p.Ala4130=) c.12387C= (p.Ala4129=) c.12360C= (p.Ala4120=) c.12342C= (p.Ala4114=) c.12288C= (p.Ala4096=) c.12207C= (p.Ala4069=) c.12150C= (p.Ala4050=) c.10236C= (p.Ala3412=) c.9414C= (p.Ala3138=) n.12254C= c.12456C= (p.Ala4152=) c.12384C= (p.Ala4128=) c.12246C= (p.Ala4082=) c.10332C= (p.Ala3444=) | |
16 | g.2090393G>T | CA493044339 | PKD1 | c.12336C>A (p.Ala4112=) c.12333C>A (p.Ala4111=) n.364C>A c.9291C>A (p.Ala3097=) c.12414C>A (p.Ala4138=) c.12411C>A (p.Ala4137=) c.12396C>A (p.Ala4132=) c.12390C>A (p.Ala4130=) c.12387C>A (p.Ala4129=) c.12360C>A (p.Ala4120=) c.12342C>A (p.Ala4114=) c.12288C>A (p.Ala4096=) c.12207C>A (p.Ala4069=) c.12150C>A (p.Ala4050=) c.10236C>A (p.Ala3412=) c.9414C>A (p.Ala3138=) n.12254C>A c.12456C>A (p.Ala4152=) c.12384C>A (p.Ala4128=) c.12246C>A (p.Ala4082=) c.10332C>A (p.Ala3444=) | |
16 | g.2090394del | CA1139664263 | PKD1 | c.12336del (p.Leu4113CysfsTer?) c.12333del (p.Leu4112CysfsTer?) n.364del c.9291del (p.Leu3098CysfsTer?) c.12414del (p.Leu4139CysfsTer?) c.12411del (p.Leu4138CysfsTer?) c.12396del (p.Leu4133CysfsTer?) c.12390del (p.Leu4131CysfsTer?) c.12387del (p.Leu4130CysfsTer?) c.12360del (p.Leu4121CysfsTer?) c.12342del (p.Leu4115CysfsTer?) c.12288del (p.Leu4097CysfsTer?) c.12207del (p.Leu4070CysfsTer?) c.12150del (p.Leu4051CysfsTer?) c.10236del (p.Leu3413CysfsTer?) c.9414del (p.Leu3139CysfsTer?) n.12254del c.12456del (p.Leu4153CysfsTer?) c.12384del (p.Leu4129CysfsTer?) c.12246del (p.Leu4083CysfsTer?) c.10332del (p.Leu3445CysfsTer?) | ClinVar dbSNP |
16 | g.2090393_2090403delinsGGCGTGGTAGC | CA2202041627 | PKD1 | c.12326_12336delinsGCTACCACGCC (p.Arg4109=) c.12323_12333delinsGCTACCACGCC (p.Arg4108=) n.354_364delinsGCTACCACGCC c.9281_9291delinsGCTACCACGCC (p.Arg3094=) c.12404_12414delinsGCTACCACGCC (p.Arg4135=) c.12401_12411delinsGCTACCACGCC (p.Arg4134=) c.12386_12396delinsGCTACCACGCC (p.Arg4129=) c.12380_12390delinsGCTACCACGCC (p.Arg4127=) c.12377_12387delinsGCTACCACGCC (p.Arg4126=) c.12350_12360delinsGCTACCACGCC (p.Arg4117=) c.12332_12342delinsGCTACCACGCC (p.Arg4111=) c.12278_12288delinsGCTACCACGCC (p.Arg4093=) c.12197_12207delinsGCTACCACGCC (p.Arg4066=) c.12140_12150delinsGCTACCACGCC (p.Arg4047=) c.10226_10236delinsGCTACCACGCC (p.Arg3409=) c.9404_9414delinsGCTACCACGCC (p.Arg3135=) n.12244_12254delinsGCTACCACGCC c.12446_12456delinsGCTACCACGCC (p.Arg4149=) c.12374_12384delinsGCTACCACGCC (p.Arg4125=) c.12236_12246delinsGCTACCACGCC (p.Arg4079=) c.10322_10332delinsGCTACCACGCC (p.Arg3441=) | |
16 | g.2090394G>A | CA394325297 | PKD1 | c.12335C>T (p.Ala4112Val) c.12332C>T (p.Ala4111Val) n.363C>T c.9290C>T (p.Ala3097Val) c.12413C>T (p.Ala4138Val) c.12410C>T (p.Ala4137Val) c.12395C>T (p.Ala4132Val) c.12389C>T (p.Ala4130Val) c.12386C>T (p.Ala4129Val) c.12359C>T (p.Ala4120Val) c.12341C>T (p.Ala4114Val) c.12287C>T (p.Ala4096Val) c.12206C>T (p.Ala4069Val) c.12149C>T (p.Ala4050Val) c.10235C>T (p.Ala3412Val) c.9413C>T (p.Ala3138Val) n.12253C>T c.12455C>T (p.Ala4152Val) c.12383C>T (p.Ala4128Val) c.12245C>T (p.Ala4082Val) c.10331C>T (p.Ala3444Val) | dbSNP |
16 | g.2090394G>C | CA394325293 | PKD1 | c.12335C>G (p.Ala4112Gly) c.12332C>G (p.Ala4111Gly) n.363C>G c.9290C>G (p.Ala3097Gly) c.12413C>G (p.Ala4138Gly) c.12410C>G (p.Ala4137Gly) c.12395C>G (p.Ala4132Gly) c.12389C>G (p.Ala4130Gly) c.12386C>G (p.Ala4129Gly) c.12359C>G (p.Ala4120Gly) c.12341C>G (p.Ala4114Gly) c.12287C>G (p.Ala4096Gly) c.12206C>G (p.Ala4069Gly) c.12149C>G (p.Ala4050Gly) c.10235C>G (p.Ala3412Gly) c.9413C>G (p.Ala3138Gly) n.12253C>G c.12455C>G (p.Ala4152Gly) c.12383C>G (p.Ala4128Gly) c.12245C>G (p.Ala4082Gly) c.10331C>G (p.Ala3444Gly) | dbSNP gnomAD v4 |
16 | g.2090394G= | CA2202041633 | PKD1 | c.12335C= (p.Ala4112=) c.12332C= (p.Ala4111=) n.363C= c.9290C= (p.Ala3097=) c.12413C= (p.Ala4138=) c.12410C= (p.Ala4137=) c.12395C= (p.Ala4132=) c.12389C= (p.Ala4130=) c.12386C= (p.Ala4129=) c.12359C= (p.Ala4120=) c.12341C= (p.Ala4114=) c.12287C= (p.Ala4096=) c.12206C= (p.Ala4069=) c.12149C= (p.Ala4050=) c.10235C= (p.Ala3412=) c.9413C= (p.Ala3138=) n.12253C= c.12455C= (p.Ala4152=) c.12383C= (p.Ala4128=) c.12245C= (p.Ala4082=) c.10331C= (p.Ala3444=) | |
16 | g.2090394G>T | CA394325300 | PKD1 | c.12335C>A (p.Ala4112Asp) c.12332C>A (p.Ala4111Asp) n.363C>A c.9290C>A (p.Ala3097Asp) c.12413C>A (p.Ala4138Asp) c.12410C>A (p.Ala4137Asp) c.12395C>A (p.Ala4132Asp) c.12389C>A (p.Ala4130Asp) c.12386C>A (p.Ala4129Asp) c.12359C>A (p.Ala4120Asp) c.12341C>A (p.Ala4114Asp) c.12287C>A (p.Ala4096Asp) c.12206C>A (p.Ala4069Asp) c.12149C>A (p.Ala4050Asp) c.10235C>A (p.Ala3412Asp) c.9413C>A (p.Ala3138Asp) n.12253C>A c.12455C>A (p.Ala4152Asp) c.12383C>A (p.Ala4128Asp) c.12245C>A (p.Ala4082Asp) c.10331C>A (p.Ala3444Asp) | |
16 | g.2090396_2090405del | CA916079844 | PKD1 | c.12326_12335del (p.Arg4109ProfsTer?) c.12323_12332del (p.Arg4108ProfsTer?) n.354_363del c.9281_9290del (p.Arg3094ProfsTer?) c.12404_12413del (p.Arg4135ProfsTer?) c.12401_12410del (p.Arg4134ProfsTer?) c.12386_12395del (p.Arg4129ProfsTer?) c.12380_12389del (p.Arg4127ProfsTer?) c.12377_12386del (p.Arg4126ProfsTer?) c.12350_12359del (p.Arg4117ProfsTer?) c.12332_12341del (p.Arg4111ProfsTer?) c.12278_12287del (p.Arg4093ProfsTer?) c.12197_12206del (p.Arg4066ProfsTer?) c.12140_12149del (p.Arg4047ProfsTer?) c.10226_10235del (p.Arg3409ProfsTer?) c.9404_9413del (p.Arg3135ProfsTer?) n.12244_12253del c.12446_12455del (p.Arg4149ProfsTer?) c.12374_12383del (p.Arg4125ProfsTer?) c.12236_12245del (p.Arg4079ProfsTer?) c.10322_10331del (p.Arg3441ProfsTer?) | ClinVar dbSNP |
16 | g.2090395C>A | CA7828681 | PKD1 | c.12334G>T (p.Ala4112Ser) c.12331G>T (p.Ala4111Ser) n.362G>T c.9289G>T (p.Ala3097Ser) c.12412G>T (p.Ala4138Ser) c.12409G>T (p.Ala4137Ser) c.12394G>T (p.Ala4132Ser) c.12388G>T (p.Ala4130Ser) c.12385G>T (p.Ala4129Ser) c.12358G>T (p.Ala4120Ser) c.12340G>T (p.Ala4114Ser) c.12286G>T (p.Ala4096Ser) c.12205G>T (p.Ala4069Ser) c.12148G>T (p.Ala4050Ser) c.10234G>T (p.Ala3412Ser) c.9412G>T (p.Ala3138Ser) n.12252G>T c.12454G>T (p.Ala4152Ser) c.12382G>T (p.Ala4128Ser) c.12244G>T (p.Ala4082Ser) c.10330G>T (p.Ala3444Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090395C= | CA2202041636 | PKD1 | c.12334G= (p.Ala4112=) c.12331G= (p.Ala4111=) n.362G= c.9289G= (p.Ala3097=) c.12412G= (p.Ala4138=) c.12409G= (p.Ala4137=) c.12394G= (p.Ala4132=) c.12388G= (p.Ala4130=) c.12385G= (p.Ala4129=) c.12358G= (p.Ala4120=) c.12340G= (p.Ala4114=) c.12286G= (p.Ala4096=) c.12205G= (p.Ala4069=) c.12148G= (p.Ala4050=) c.10234G= (p.Ala3412=) c.9412G= (p.Ala3138=) n.12252G= c.12454G= (p.Ala4152=) c.12382G= (p.Ala4128=) c.12244G= (p.Ala4082=) c.10330G= (p.Ala3444=) | |
16 | g.2090395C>G | CA394325308 | PKD1 | c.12334G>C (p.Ala4112Pro) c.12331G>C (p.Ala4111Pro) n.362G>C c.9289G>C (p.Ala3097Pro) c.12412G>C (p.Ala4138Pro) c.12409G>C (p.Ala4137Pro) c.12394G>C (p.Ala4132Pro) c.12388G>C (p.Ala4130Pro) c.12385G>C (p.Ala4129Pro) c.12358G>C (p.Ala4120Pro) c.12340G>C (p.Ala4114Pro) c.12286G>C (p.Ala4096Pro) c.12205G>C (p.Ala4069Pro) c.12148G>C (p.Ala4050Pro) c.10234G>C (p.Ala3412Pro) c.9412G>C (p.Ala3138Pro) n.12252G>C c.12454G>C (p.Ala4152Pro) c.12382G>C (p.Ala4128Pro) c.12244G>C (p.Ala4082Pro) c.10330G>C (p.Ala3444Pro) | ClinVar gnomAD v4 |
16 | g.2090395C>T | CA394325311 | PKD1 | c.12334G>A (p.Ala4112Thr) c.12331G>A (p.Ala4111Thr) n.362G>A c.9289G>A (p.Ala3097Thr) c.12412G>A (p.Ala4138Thr) c.12409G>A (p.Ala4137Thr) c.12394G>A (p.Ala4132Thr) c.12388G>A (p.Ala4130Thr) c.12385G>A (p.Ala4129Thr) c.12358G>A (p.Ala4120Thr) c.12340G>A (p.Ala4114Thr) c.12286G>A (p.Ala4096Thr) c.12205G>A (p.Ala4069Thr) c.12148G>A (p.Ala4050Thr) c.10234G>A (p.Ala3412Thr) c.9412G>A (p.Ala3138Thr) n.12252G>A c.12454G>A (p.Ala4152Thr) c.12382G>A (p.Ala4128Thr) c.12244G>A (p.Ala4082Thr) c.10330G>A (p.Ala3444Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090395_2090396insCC | CA2580612736 | PKD1 | c.12334_12335insGG (p.Ala4112GlyfsTer?) c.12331_12332insGG (p.Ala4111GlyfsTer?) n.362_363insGG c.9289_9290insGG (p.Ala3097GlyfsTer?) c.12412_12413insGG (p.Ala4138GlyfsTer?) c.12409_12410insGG (p.Ala4137GlyfsTer?) c.12394_12395insGG (p.Ala4132GlyfsTer?) c.12388_12389insGG (p.Ala4130GlyfsTer?) c.12385_12386insGG (p.Ala4129GlyfsTer?) c.12358_12359insGG (p.Ala4120GlyfsTer?) c.12340_12341insGG (p.Ala4114GlyfsTer?) c.12286_12287insGG (p.Ala4096GlyfsTer?) c.12205_12206insGG (p.Ala4069GlyfsTer?) c.12148_12149insGG (p.Ala4050GlyfsTer?) c.10234_10235insGG (p.Ala3412GlyfsTer?) c.9412_9413insGG (p.Ala3138GlyfsTer?) n.12252_12253insGG c.12454_12455insGG (p.Ala4152GlyfsTer?) c.12382_12383insGG (p.Ala4128GlyfsTer?) c.12244_12245insGG (p.Ala4082GlyfsTer?) c.10330_10331insGG (p.Ala3444GlyfsTer?) | ClinVar |
16 | g.2090396G>A | CA276764053 | PKD1 | c.12333C>T (p.His4111=) c.12330C>T (p.His4110=) n.361C>T c.9288C>T (p.His3096=) c.12411C>T (p.His4137=) c.12408C>T (p.His4136=) c.12393C>T (p.His4131=) c.12387C>T (p.His4129=) c.12384C>T (p.His4128=) c.12357C>T (p.His4119=) c.12339C>T (p.His4113=) c.12285C>T (p.His4095=) c.12204C>T (p.His4068=) c.12147C>T (p.His4049=) c.10233C>T (p.His3411=) c.9411C>T (p.His3137=) n.12251C>T c.12453C>T (p.His4151=) c.12381C>T (p.His4127=) c.12243C>T (p.His4081=) c.10329C>T (p.His3443=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090396G>C | CA394325317 | PKD1 | c.12333C>G (p.His4111Gln) c.12330C>G (p.His4110Gln) n.361C>G c.9288C>G (p.His3096Gln) c.12411C>G (p.His4137Gln) c.12408C>G (p.His4136Gln) c.12393C>G (p.His4131Gln) c.12387C>G (p.His4129Gln) c.12384C>G (p.His4128Gln) c.12357C>G (p.His4119Gln) c.12339C>G (p.His4113Gln) c.12285C>G (p.His4095Gln) c.12204C>G (p.His4068Gln) c.12147C>G (p.His4049Gln) c.10233C>G (p.His3411Gln) c.9411C>G (p.His3137Gln) n.12251C>G c.12453C>G (p.His4151Gln) c.12381C>G (p.His4127Gln) c.12243C>G (p.His4081Gln) c.10329C>G (p.His3443Gln) | gnomAD v4 |
16 | g.2090396G= | CA2202041640 | PKD1 | c.12333C= (p.His4111=) c.12330C= (p.His4110=) n.361C= c.9288C= (p.His3096=) c.12411C= (p.His4137=) c.12408C= (p.His4136=) c.12393C= (p.His4131=) c.12387C= (p.His4129=) c.12384C= (p.His4128=) c.12357C= (p.His4119=) c.12339C= (p.His4113=) c.12285C= (p.His4095=) c.12204C= (p.His4068=) c.12147C= (p.His4049=) c.10233C= (p.His3411=) c.9411C= (p.His3137=) n.12251C= c.12453C= (p.His4151=) c.12381C= (p.His4127=) c.12243C= (p.His4081=) c.10329C= (p.His3443=) | |
16 | g.2090396G>T | CA394325331 | PKD1 | c.12333C>A (p.His4111Gln) c.12330C>A (p.His4110Gln) n.361C>A c.9288C>A (p.His3096Gln) c.12411C>A (p.His4137Gln) c.12408C>A (p.His4136Gln) c.12393C>A (p.His4131Gln) c.12387C>A (p.His4129Gln) c.12384C>A (p.His4128Gln) c.12357C>A (p.His4119Gln) c.12339C>A (p.His4113Gln) c.12285C>A (p.His4095Gln) c.12204C>A (p.His4068Gln) c.12147C>A (p.His4049Gln) c.10233C>A (p.His3411Gln) c.9411C>A (p.His3137Gln) n.12251C>A c.12453C>A (p.His4151Gln) c.12381C>A (p.His4127Gln) c.12243C>A (p.His4081Gln) c.10329C>A (p.His3443Gln) | |
16 | g.2090397del | CA2631135076 | PKD1 | c.12332del (p.His4111ProfsTer?) c.12329del (p.His4110ProfsTer?) n.360del c.9287del (p.His3096ProfsTer?) c.12410del (p.His4137ProfsTer?) c.12407del (p.His4136ProfsTer?) c.12392del (p.His4131ProfsTer?) c.12386del (p.His4129ProfsTer?) c.12383del (p.His4128ProfsTer?) c.12356del (p.His4119ProfsTer?) c.12338del (p.His4113ProfsTer?) c.12284del (p.His4095ProfsTer?) c.12203del (p.His4068ProfsTer?) c.12146del (p.His4049ProfsTer?) c.10232del (p.His3411ProfsTer?) c.9410del (p.His3137ProfsTer?) n.12250del c.12452del (p.His4151ProfsTer?) c.12380del (p.His4127ProfsTer?) c.12242del (p.His4081ProfsTer?) c.10328del (p.His3443ProfsTer?) | gnomAD v4 |
16 | g.2090397T>A | CA394325335 | PKD1 | c.12332A>T (p.His4111Leu) c.12329A>T (p.His4110Leu) n.360A>T c.9287A>T (p.His3096Leu) c.12410A>T (p.His4137Leu) c.12407A>T (p.His4136Leu) c.12392A>T (p.His4131Leu) c.12386A>T (p.His4129Leu) c.12383A>T (p.His4128Leu) c.12356A>T (p.His4119Leu) c.12338A>T (p.His4113Leu) c.12284A>T (p.His4095Leu) c.12203A>T (p.His4068Leu) c.12146A>T (p.His4049Leu) c.10232A>T (p.His3411Leu) c.9410A>T (p.His3137Leu) n.12250A>T c.12452A>T (p.His4151Leu) c.12380A>T (p.His4127Leu) c.12242A>T (p.His4081Leu) c.10328A>T (p.His3443Leu) | |
16 | g.2090397T>C | CA394325337 | PKD1 | c.12332A>G (p.His4111Arg) c.12329A>G (p.His4110Arg) n.360A>G c.9287A>G (p.His3096Arg) c.12410A>G (p.His4137Arg) c.12407A>G (p.His4136Arg) c.12392A>G (p.His4131Arg) c.12386A>G (p.His4129Arg) c.12383A>G (p.His4128Arg) c.12356A>G (p.His4119Arg) c.12338A>G (p.His4113Arg) c.12284A>G (p.His4095Arg) c.12203A>G (p.His4068Arg) c.12146A>G (p.His4049Arg) c.10232A>G (p.His3411Arg) c.9410A>G (p.His3137Arg) n.12250A>G c.12452A>G (p.His4151Arg) c.12380A>G (p.His4127Arg) c.12242A>G (p.His4081Arg) c.10328A>G (p.His3443Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090397T>G | CA394325342 | PKD1 | c.12332A>C (p.His4111Pro) c.12329A>C (p.His4110Pro) n.360A>C c.9287A>C (p.His3096Pro) c.12410A>C (p.His4137Pro) c.12407A>C (p.His4136Pro) c.12392A>C (p.His4131Pro) c.12386A>C (p.His4129Pro) c.12383A>C (p.His4128Pro) c.12356A>C (p.His4119Pro) c.12338A>C (p.His4113Pro) c.12284A>C (p.His4095Pro) c.12203A>C (p.His4068Pro) c.12146A>C (p.His4049Pro) c.10232A>C (p.His3411Pro) c.9410A>C (p.His3137Pro) n.12250A>C c.12452A>C (p.His4151Pro) c.12380A>C (p.His4127Pro) c.12242A>C (p.His4081Pro) c.10328A>C (p.His3443Pro) | |
16 | g.2090397T= | CA2202041645 | PKD1 | c.12332A= (p.His4111=) c.12329A= (p.His4110=) n.360A= c.9287A= (p.His3096=) c.12410A= (p.His4137=) c.12407A= (p.His4136=) c.12392A= (p.His4131=) c.12386A= (p.His4129=) c.12383A= (p.His4128=) c.12356A= (p.His4119=) c.12338A= (p.His4113=) c.12284A= (p.His4095=) c.12203A= (p.His4068=) c.12146A= (p.His4049=) c.10232A= (p.His3411=) c.9410A= (p.His3137=) n.12250A= c.12452A= (p.His4151=) c.12380A= (p.His4127=) c.12242A= (p.His4081=) c.10328A= (p.His3443=) | |
16 | g.2090398G>A | CA394325346 | PKD1 | c.12331C>T (p.His4111Tyr) c.12328C>T (p.His4110Tyr) n.359C>T c.9286C>T (p.His3096Tyr) c.12409C>T (p.His4137Tyr) c.12406C>T (p.His4136Tyr) c.12391C>T (p.His4131Tyr) c.12385C>T (p.His4129Tyr) c.12382C>T (p.His4128Tyr) c.12355C>T (p.His4119Tyr) c.12337C>T (p.His4113Tyr) c.12283C>T (p.His4095Tyr) c.12202C>T (p.His4068Tyr) c.12145C>T (p.His4049Tyr) c.10231C>T (p.His3411Tyr) c.9409C>T (p.His3137Tyr) n.12249C>T c.12451C>T (p.His4151Tyr) c.12379C>T (p.His4127Tyr) c.12241C>T (p.His4081Tyr) c.10327C>T (p.His3443Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090398G>C | CA394325349 | PKD1 | c.12331C>G (p.His4111Asp) c.12328C>G (p.His4110Asp) n.359C>G c.9286C>G (p.His3096Asp) c.12409C>G (p.His4137Asp) c.12406C>G (p.His4136Asp) c.12391C>G (p.His4131Asp) c.12385C>G (p.His4129Asp) c.12382C>G (p.His4128Asp) c.12355C>G (p.His4119Asp) c.12337C>G (p.His4113Asp) c.12283C>G (p.His4095Asp) c.12202C>G (p.His4068Asp) c.12145C>G (p.His4049Asp) c.10231C>G (p.His3411Asp) c.9409C>G (p.His3137Asp) n.12249C>G c.12451C>G (p.His4151Asp) c.12379C>G (p.His4127Asp) c.12241C>G (p.His4081Asp) c.10327C>G (p.His3443Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090398G= | CA2202041651 | PKD1 | c.12331C= (p.His4111=) c.12328C= (p.His4110=) n.359C= c.9286C= (p.His3096=) c.12409C= (p.His4137=) c.12406C= (p.His4136=) c.12391C= (p.His4131=) c.12385C= (p.His4129=) c.12382C= (p.His4128=) c.12355C= (p.His4119=) c.12337C= (p.His4113=) c.12283C= (p.His4095=) c.12202C= (p.His4068=) c.12145C= (p.His4049=) c.10231C= (p.His3411=) c.9409C= (p.His3137=) n.12249C= c.12451C= (p.His4151=) c.12379C= (p.His4127=) c.12241C= (p.His4081=) c.10327C= (p.His3443=) | |
16 | g.2090398G>T | CA394325352 | PKD1 | c.12331C>A (p.His4111Asn) c.12328C>A (p.His4110Asn) n.359C>A c.9286C>A (p.His3096Asn) c.12409C>A (p.His4137Asn) c.12406C>A (p.His4136Asn) c.12391C>A (p.His4131Asn) c.12385C>A (p.His4129Asn) c.12382C>A (p.His4128Asn) c.12355C>A (p.His4119Asn) c.12337C>A (p.His4113Asn) c.12283C>A (p.His4095Asn) c.12202C>A (p.His4068Asn) c.12145C>A (p.His4049Asn) c.10231C>A (p.His3411Asn) c.9409C>A (p.His3137Asn) n.12249C>A c.12451C>A (p.His4151Asn) c.12379C>A (p.His4127Asn) c.12241C>A (p.His4081Asn) c.10327C>A (p.His3443Asn) | |
16 | g.2090399G>A | CA276764055 | PKD1 | c.12330C>T (p.Tyr4110=) c.12327C>T (p.Tyr4109=) n.358C>T c.9285C>T (p.Tyr3095=) c.12408C>T (p.Tyr4136=) c.12405C>T (p.Tyr4135=) c.12390C>T (p.Tyr4130=) c.12384C>T (p.Tyr4128=) c.12381C>T (p.Tyr4127=) c.12354C>T (p.Tyr4118=) c.12336C>T (p.Tyr4112=) c.12282C>T (p.Tyr4094=) c.12201C>T (p.Tyr4067=) c.12144C>T (p.Tyr4048=) c.10230C>T (p.Tyr3410=) c.9408C>T (p.Tyr3136=) n.12248C>T c.12450C>T (p.Tyr4150=) c.12378C>T (p.Tyr4126=) c.12240C>T (p.Tyr4080=) c.10326C>T (p.Tyr3442=) | dbSNP gnomAD v4 |
16 | g.2090399G>C | CA394325362 | PKD1 | c.12330C>G (p.Tyr4110Ter) c.12327C>G (p.Tyr4109Ter) n.358C>G c.9285C>G (p.Tyr3095Ter) c.12408C>G (p.Tyr4136Ter) c.12405C>G (p.Tyr4135Ter) c.12390C>G (p.Tyr4130Ter) c.12384C>G (p.Tyr4128Ter) c.12381C>G (p.Tyr4127Ter) c.12354C>G (p.Tyr4118Ter) c.12336C>G (p.Tyr4112Ter) c.12282C>G (p.Tyr4094Ter) c.12201C>G (p.Tyr4067Ter) c.12144C>G (p.Tyr4048Ter) c.10230C>G (p.Tyr3410Ter) c.9408C>G (p.Tyr3136Ter) n.12248C>G c.12450C>G (p.Tyr4150Ter) c.12378C>G (p.Tyr4126Ter) c.12240C>G (p.Tyr4080Ter) c.10326C>G (p.Tyr3442Ter) | |
16 | g.2090399G= | CA2202041654 | PKD1 | c.12330C= (p.Tyr4110=) c.12327C= (p.Tyr4109=) n.358C= c.9285C= (p.Tyr3095=) c.12408C= (p.Tyr4136=) c.12405C= (p.Tyr4135=) c.12390C= (p.Tyr4130=) c.12384C= (p.Tyr4128=) c.12381C= (p.Tyr4127=) c.12354C= (p.Tyr4118=) c.12336C= (p.Tyr4112=) c.12282C= (p.Tyr4094=) c.12201C= (p.Tyr4067=) c.12144C= (p.Tyr4048=) c.10230C= (p.Tyr3410=) c.9408C= (p.Tyr3136=) n.12248C= c.12450C= (p.Tyr4150=) c.12378C= (p.Tyr4126=) c.12240C= (p.Tyr4080=) c.10326C= (p.Tyr3442=) | |
16 | g.2090399G>T | CA394325357 | PKD1 | c.12330C>A (p.Tyr4110Ter) c.12327C>A (p.Tyr4109Ter) n.358C>A c.9285C>A (p.Tyr3095Ter) c.12408C>A (p.Tyr4136Ter) c.12405C>A (p.Tyr4135Ter) c.12390C>A (p.Tyr4130Ter) c.12384C>A (p.Tyr4128Ter) c.12381C>A (p.Tyr4127Ter) c.12354C>A (p.Tyr4118Ter) c.12336C>A (p.Tyr4112Ter) c.12282C>A (p.Tyr4094Ter) c.12201C>A (p.Tyr4067Ter) c.12144C>A (p.Tyr4048Ter) c.10230C>A (p.Tyr3410Ter) c.9408C>A (p.Tyr3136Ter) n.12248C>A c.12450C>A (p.Tyr4150Ter) c.12378C>A (p.Tyr4126Ter) c.12240C>A (p.Tyr4080Ter) c.10326C>A (p.Tyr3442Ter) | |
16 | g.2090400T>A | CA7828682 | PKD1 | c.12329A>T (p.Tyr4110Phe) c.12326A>T (p.Tyr4109Phe) n.357A>T c.9284A>T (p.Tyr3095Phe) c.12407A>T (p.Tyr4136Phe) c.12404A>T (p.Tyr4135Phe) c.12389A>T (p.Tyr4130Phe) c.12383A>T (p.Tyr4128Phe) c.12380A>T (p.Tyr4127Phe) c.12353A>T (p.Tyr4118Phe) c.12335A>T (p.Tyr4112Phe) c.12281A>T (p.Tyr4094Phe) c.12200A>T (p.Tyr4067Phe) c.12143A>T (p.Tyr4048Phe) c.10229A>T (p.Tyr3410Phe) c.9407A>T (p.Tyr3136Phe) n.12247A>T c.12449A>T (p.Tyr4150Phe) c.12377A>T (p.Tyr4126Phe) c.12239A>T (p.Tyr4080Phe) c.10325A>T (p.Tyr3442Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090400T>C | CA394325371 | PKD1 | c.12329A>G (p.Tyr4110Cys) c.12326A>G (p.Tyr4109Cys) n.357A>G c.9284A>G (p.Tyr3095Cys) c.12407A>G (p.Tyr4136Cys) c.12404A>G (p.Tyr4135Cys) c.12389A>G (p.Tyr4130Cys) c.12383A>G (p.Tyr4128Cys) c.12380A>G (p.Tyr4127Cys) c.12353A>G (p.Tyr4118Cys) c.12335A>G (p.Tyr4112Cys) c.12281A>G (p.Tyr4094Cys) c.12200A>G (p.Tyr4067Cys) c.12143A>G (p.Tyr4048Cys) c.10229A>G (p.Tyr3410Cys) c.9407A>G (p.Tyr3136Cys) n.12247A>G c.12449A>G (p.Tyr4150Cys) c.12377A>G (p.Tyr4126Cys) c.12239A>G (p.Tyr4080Cys) c.10325A>G (p.Tyr3442Cys) | |
16 | g.2090400T>G | CA394325373 | PKD1 | c.12329A>C (p.Tyr4110Ser) c.12326A>C (p.Tyr4109Ser) n.357A>C c.9284A>C (p.Tyr3095Ser) c.12407A>C (p.Tyr4136Ser) c.12404A>C (p.Tyr4135Ser) c.12389A>C (p.Tyr4130Ser) c.12383A>C (p.Tyr4128Ser) c.12380A>C (p.Tyr4127Ser) c.12353A>C (p.Tyr4118Ser) c.12335A>C (p.Tyr4112Ser) c.12281A>C (p.Tyr4094Ser) c.12200A>C (p.Tyr4067Ser) c.12143A>C (p.Tyr4048Ser) c.10229A>C (p.Tyr3410Ser) c.9407A>C (p.Tyr3136Ser) n.12247A>C c.12449A>C (p.Tyr4150Ser) c.12377A>C (p.Tyr4126Ser) c.12239A>C (p.Tyr4080Ser) c.10325A>C (p.Tyr3442Ser) | |
16 | g.2090400T= | CA2202041657 | PKD1 | c.12329A= (p.Tyr4110=) c.12326A= (p.Tyr4109=) n.357A= c.9284A= (p.Tyr3095=) c.12407A= (p.Tyr4136=) c.12404A= (p.Tyr4135=) c.12389A= (p.Tyr4130=) c.12383A= (p.Tyr4128=) c.12380A= (p.Tyr4127=) c.12353A= (p.Tyr4118=) c.12335A= (p.Tyr4112=) c.12281A= (p.Tyr4094=) c.12200A= (p.Tyr4067=) c.12143A= (p.Tyr4048=) c.10229A= (p.Tyr3410=) c.9407A= (p.Tyr3136=) n.12247A= c.12449A= (p.Tyr4150=) c.12377A= (p.Tyr4126=) c.12239A= (p.Tyr4080=) c.10325A= (p.Tyr3442=) | |
16 | g.2090401A= | CA2202041658 | PKD1 | c.12328T= (p.Tyr4110=) c.12325T= (p.Tyr4109=) n.356T= c.9283T= (p.Tyr3095=) c.12406T= (p.Tyr4136=) c.12403T= (p.Tyr4135=) c.12388T= (p.Tyr4130=) c.12382T= (p.Tyr4128=) c.12379T= (p.Tyr4127=) c.12352T= (p.Tyr4118=) c.12334T= (p.Tyr4112=) c.12280T= (p.Tyr4094=) c.12199T= (p.Tyr4067=) c.12142T= (p.Tyr4048=) c.10228T= (p.Tyr3410=) c.9406T= (p.Tyr3136=) n.12246T= c.12448T= (p.Tyr4150=) c.12376T= (p.Tyr4126=) c.12238T= (p.Tyr4080=) c.10324T= (p.Tyr3442=) | |
16 | g.2090401A>C | CA394325378 | PKD1 | c.12328T>G (p.Tyr4110Asp) c.12325T>G (p.Tyr4109Asp) n.356T>G c.9283T>G (p.Tyr3095Asp) c.12406T>G (p.Tyr4136Asp) c.12403T>G (p.Tyr4135Asp) c.12388T>G (p.Tyr4130Asp) c.12382T>G (p.Tyr4128Asp) c.12379T>G (p.Tyr4127Asp) c.12352T>G (p.Tyr4118Asp) c.12334T>G (p.Tyr4112Asp) c.12280T>G (p.Tyr4094Asp) c.12199T>G (p.Tyr4067Asp) c.12142T>G (p.Tyr4048Asp) c.10228T>G (p.Tyr3410Asp) c.9406T>G (p.Tyr3136Asp) n.12246T>G c.12448T>G (p.Tyr4150Asp) c.12376T>G (p.Tyr4126Asp) c.12238T>G (p.Tyr4080Asp) c.10324T>G (p.Tyr3442Asp) | |
16 | g.2090401A>G | CA394325386 | PKD1 | c.12328T>C (p.Tyr4110His) c.12325T>C (p.Tyr4109His) n.356T>C c.9283T>C (p.Tyr3095His) c.12406T>C (p.Tyr4136His) c.12403T>C (p.Tyr4135His) c.12388T>C (p.Tyr4130His) c.12382T>C (p.Tyr4128His) c.12379T>C (p.Tyr4127His) c.12352T>C (p.Tyr4118His) c.12334T>C (p.Tyr4112His) c.12280T>C (p.Tyr4094His) c.12199T>C (p.Tyr4067His) c.12142T>C (p.Tyr4048His) c.10228T>C (p.Tyr3410His) c.9406T>C (p.Tyr3136His) n.12246T>C c.12448T>C (p.Tyr4150His) c.12376T>C (p.Tyr4126His) c.12238T>C (p.Tyr4080His) c.10324T>C (p.Tyr3442His) | dbSNP |
16 | g.2090401A>T | CA394325390 | PKD1 | c.12328T>A (p.Tyr4110Asn) c.12325T>A (p.Tyr4109Asn) n.356T>A c.9283T>A (p.Tyr3095Asn) c.12406T>A (p.Tyr4136Asn) c.12403T>A (p.Tyr4135Asn) c.12388T>A (p.Tyr4130Asn) c.12382T>A (p.Tyr4128Asn) c.12379T>A (p.Tyr4127Asn) c.12352T>A (p.Tyr4118Asn) c.12334T>A (p.Tyr4112Asn) c.12280T>A (p.Tyr4094Asn) c.12199T>A (p.Tyr4067Asn) c.12142T>A (p.Tyr4048Asn) c.10228T>A (p.Tyr3410Asn) c.9406T>A (p.Tyr3136Asn) n.12246T>A c.12448T>A (p.Tyr4150Asn) c.12376T>A (p.Tyr4126Asn) c.12238T>A (p.Tyr4080Asn) c.10324T>A (p.Tyr3442Asn) | |
16 | g.2090402G>A | CA493044359 | PKD1 | c.12327C>T (p.Arg4109=) c.12324C>T (p.Arg4108=) n.355C>T c.9282C>T (p.Arg3094=) c.12405C>T (p.Arg4135=) c.12402C>T (p.Arg4134=) c.12387C>T (p.Arg4129=) c.12381C>T (p.Arg4127=) c.12378C>T (p.Arg4126=) c.12351C>T (p.Arg4117=) c.12333C>T (p.Arg4111=) c.12279C>T (p.Arg4093=) c.12198C>T (p.Arg4066=) c.12141C>T (p.Arg4047=) c.10227C>T (p.Arg3409=) c.9405C>T (p.Arg3135=) n.12245C>T c.12447C>T (p.Arg4149=) c.12375C>T (p.Arg4125=) c.12237C>T (p.Arg4079=) c.10323C>T (p.Arg3441=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090402G>C | CA493044361 | PKD1 | c.12327C>G (p.Arg4109=) c.12324C>G (p.Arg4108=) n.355C>G c.9282C>G (p.Arg3094=) c.12405C>G (p.Arg4135=) c.12402C>G (p.Arg4134=) c.12387C>G (p.Arg4129=) c.12381C>G (p.Arg4127=) c.12378C>G (p.Arg4126=) c.12351C>G (p.Arg4117=) c.12333C>G (p.Arg4111=) c.12279C>G (p.Arg4093=) c.12198C>G (p.Arg4066=) c.12141C>G (p.Arg4047=) c.10227C>G (p.Arg3409=) c.9405C>G (p.Arg3135=) n.12245C>G c.12447C>G (p.Arg4149=) c.12375C>G (p.Arg4125=) c.12237C>G (p.Arg4079=) c.10323C>G (p.Arg3441=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090402G= | CA2202041661 | PKD1 | c.12327C= (p.Arg4109=) c.12324C= (p.Arg4108=) n.355C= c.9282C= (p.Arg3094=) c.12405C= (p.Arg4135=) c.12402C= (p.Arg4134=) c.12387C= (p.Arg4129=) c.12381C= (p.Arg4127=) c.12378C= (p.Arg4126=) c.12351C= (p.Arg4117=) c.12333C= (p.Arg4111=) c.12279C= (p.Arg4093=) c.12198C= (p.Arg4066=) c.12141C= (p.Arg4047=) c.10227C= (p.Arg3409=) c.9405C= (p.Arg3135=) n.12245C= c.12447C= (p.Arg4149=) c.12375C= (p.Arg4125=) c.12237C= (p.Arg4079=) c.10323C= (p.Arg3441=) | |
16 | g.2090402G>T | CA493044362 | PKD1 | c.12327C>A (p.Arg4109=) c.12324C>A (p.Arg4108=) n.355C>A c.9282C>A (p.Arg3094=) c.12405C>A (p.Arg4135=) c.12402C>A (p.Arg4134=) c.12387C>A (p.Arg4129=) c.12381C>A (p.Arg4127=) c.12378C>A (p.Arg4126=) c.12351C>A (p.Arg4117=) c.12333C>A (p.Arg4111=) c.12279C>A (p.Arg4093=) c.12198C>A (p.Arg4066=) c.12141C>A (p.Arg4047=) c.10227C>A (p.Arg3409=) c.9405C>A (p.Arg3135=) n.12245C>A c.12447C>A (p.Arg4149=) c.12375C>A (p.Arg4125=) c.12237C>A (p.Arg4079=) c.10323C>A (p.Arg3441=) | |
16 | g.2090403C>A | CA394325393 | PKD1 | c.12326G>T (p.Arg4109Leu) c.12323G>T (p.Arg4108Leu) n.354G>T c.9281G>T (p.Arg3094Leu) c.12404G>T (p.Arg4135Leu) c.12401G>T (p.Arg4134Leu) c.12386G>T (p.Arg4129Leu) c.12380G>T (p.Arg4127Leu) c.12377G>T (p.Arg4126Leu) c.12350G>T (p.Arg4117Leu) c.12332G>T (p.Arg4111Leu) c.12278G>T (p.Arg4093Leu) c.12197G>T (p.Arg4066Leu) c.12140G>T (p.Arg4047Leu) c.10226G>T (p.Arg3409Leu) c.9404G>T (p.Arg3135Leu) n.12244G>T c.12446G>T (p.Arg4149Leu) c.12374G>T (p.Arg4125Leu) c.12236G>T (p.Arg4079Leu) c.10322G>T (p.Arg3441Leu) | ClinVar dbSNP |
16 | g.2090403C= | CA2202041662 | PKD1 | c.12326G= (p.Arg4109=) c.12323G= (p.Arg4108=) n.354G= c.9281G= (p.Arg3094=) c.12404G= (p.Arg4135=) c.12401G= (p.Arg4134=) c.12386G= (p.Arg4129=) c.12380G= (p.Arg4127=) c.12377G= (p.Arg4126=) c.12350G= (p.Arg4117=) c.12332G= (p.Arg4111=) c.12278G= (p.Arg4093=) c.12197G= (p.Arg4066=) c.12140G= (p.Arg4047=) c.10226G= (p.Arg3409=) c.9404G= (p.Arg3135=) n.12244G= c.12446G= (p.Arg4149=) c.12374G= (p.Arg4125=) c.12236G= (p.Arg4079=) c.10322G= (p.Arg3441=) | |
16 | g.2090403C>G | CA394325394 | PKD1 | c.12326G>C (p.Arg4109Pro) c.12323G>C (p.Arg4108Pro) n.354G>C c.9281G>C (p.Arg3094Pro) c.12404G>C (p.Arg4135Pro) c.12401G>C (p.Arg4134Pro) c.12386G>C (p.Arg4129Pro) c.12380G>C (p.Arg4127Pro) c.12377G>C (p.Arg4126Pro) c.12350G>C (p.Arg4117Pro) c.12332G>C (p.Arg4111Pro) c.12278G>C (p.Arg4093Pro) c.12197G>C (p.Arg4066Pro) c.12140G>C (p.Arg4047Pro) c.10226G>C (p.Arg3409Pro) c.9404G>C (p.Arg3135Pro) n.12244G>C c.12446G>C (p.Arg4149Pro) c.12374G>C (p.Arg4125Pro) c.12236G>C (p.Arg4079Pro) c.10322G>C (p.Arg3441Pro) | |
16 | g.2090403C>T | CA394325395 | PKD1 | c.12326G>A (p.Arg4109His) c.12323G>A (p.Arg4108His) n.354G>A c.9281G>A (p.Arg3094His) c.12404G>A (p.Arg4135His) c.12401G>A (p.Arg4134His) c.12386G>A (p.Arg4129His) c.12380G>A (p.Arg4127His) c.12377G>A (p.Arg4126His) c.12350G>A (p.Arg4117His) c.12332G>A (p.Arg4111His) c.12278G>A (p.Arg4093His) c.12197G>A (p.Arg4066His) c.12140G>A (p.Arg4047His) c.10226G>A (p.Arg3409His) c.9404G>A (p.Arg3135His) n.12244G>A c.12446G>A (p.Arg4149His) c.12374G>A (p.Arg4125His) c.12236G>A (p.Arg4079His) c.10322G>A (p.Arg3441His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090404G>A | CA7828683 | PKD1 | c.12325C>T (p.Arg4109Cys) c.12322C>T (p.Arg4108Cys) n.353C>T c.9280C>T (p.Arg3094Cys) c.12403C>T (p.Arg4135Cys) c.12400C>T (p.Arg4134Cys) c.12385C>T (p.Arg4129Cys) c.12379C>T (p.Arg4127Cys) c.12376C>T (p.Arg4126Cys) c.12349C>T (p.Arg4117Cys) c.12331C>T (p.Arg4111Cys) c.12277C>T (p.Arg4093Cys) c.12196C>T (p.Arg4066Cys) c.12139C>T (p.Arg4047Cys) c.10225C>T (p.Arg3409Cys) c.9403C>T (p.Arg3135Cys) n.12243C>T c.12445C>T (p.Arg4149Cys) c.12373C>T (p.Arg4125Cys) c.12235C>T (p.Arg4079Cys) c.10321C>T (p.Arg3441Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2090404G>C | CA394325400 | PKD1 | c.12325C>G (p.Arg4109Gly) c.12322C>G (p.Arg4108Gly) n.353C>G c.9280C>G (p.Arg3094Gly) c.12403C>G (p.Arg4135Gly) c.12400C>G (p.Arg4134Gly) c.12385C>G (p.Arg4129Gly) c.12379C>G (p.Arg4127Gly) c.12376C>G (p.Arg4126Gly) c.12349C>G (p.Arg4117Gly) c.12331C>G (p.Arg4111Gly) c.12277C>G (p.Arg4093Gly) c.12196C>G (p.Arg4066Gly) c.12139C>G (p.Arg4047Gly) c.10225C>G (p.Arg3409Gly) c.9403C>G (p.Arg3135Gly) n.12243C>G c.12445C>G (p.Arg4149Gly) c.12373C>G (p.Arg4125Gly) c.12235C>G (p.Arg4079Gly) c.10321C>G (p.Arg3441Gly) | |
16 | g.2090404G= | CA2202041666 | PKD1 | c.12325C= (p.Arg4109=) c.12322C= (p.Arg4108=) n.353C= c.9280C= (p.Arg3094=) c.12403C= (p.Arg4135=) c.12400C= (p.Arg4134=) c.12385C= (p.Arg4129=) c.12379C= (p.Arg4127=) c.12376C= (p.Arg4126=) c.12349C= (p.Arg4117=) c.12331C= (p.Arg4111=) c.12277C= (p.Arg4093=) c.12196C= (p.Arg4066=) c.12139C= (p.Arg4047=) c.10225C= (p.Arg3409=) c.9403C= (p.Arg3135=) n.12243C= c.12445C= (p.Arg4149=) c.12373C= (p.Arg4125=) c.12235C= (p.Arg4079=) c.10321C= (p.Arg3441=) | |
16 | g.2090404G>T | CA394325405 | PKD1 | c.12325C>A (p.Arg4109Ser) c.12322C>A (p.Arg4108Ser) n.353C>A c.9280C>A (p.Arg3094Ser) c.12403C>A (p.Arg4135Ser) c.12400C>A (p.Arg4134Ser) c.12385C>A (p.Arg4129Ser) c.12379C>A (p.Arg4127Ser) c.12376C>A (p.Arg4126Ser) c.12349C>A (p.Arg4117Ser) c.12331C>A (p.Arg4111Ser) c.12277C>A (p.Arg4093Ser) c.12196C>A (p.Arg4066Ser) c.12139C>A (p.Arg4047Ser) c.10225C>A (p.Arg3409Ser) c.9403C>A (p.Arg3135Ser) n.12243C>A c.12445C>A (p.Arg4149Ser) c.12373C>A (p.Arg4125Ser) c.12235C>A (p.Arg4079Ser) c.10321C>A (p.Arg3441Ser) | |
16 | g.2090405C>A | CA394325415 | PKD1 | c.12324G>T (p.Trp4108Cys) c.12321G>T (p.Trp4107Cys) n.352G>T c.9279G>T (p.Trp3093Cys) c.12402G>T (p.Trp4134Cys) c.12399G>T (p.Trp4133Cys) c.12384G>T (p.Trp4128Cys) c.12378G>T (p.Trp4126Cys) c.12375G>T (p.Trp4125Cys) c.12348G>T (p.Trp4116Cys) c.12330G>T (p.Trp4110Cys) c.12276G>T (p.Trp4092Cys) c.12195G>T (p.Trp4065Cys) c.12138G>T (p.Trp4046Cys) c.10224G>T (p.Trp3408Cys) c.9402G>T (p.Trp3134Cys) n.12242G>T c.12444G>T (p.Trp4148Cys) c.12372G>T (p.Trp4124Cys) c.12234G>T (p.Trp4078Cys) c.10320G>T (p.Trp3440Cys) | |
16 | g.2090405C>G | CA394325421 | PKD1 | c.12324G>C (p.Trp4108Cys) c.12321G>C (p.Trp4107Cys) n.352G>C c.9279G>C (p.Trp3093Cys) c.12402G>C (p.Trp4134Cys) c.12399G>C (p.Trp4133Cys) c.12384G>C (p.Trp4128Cys) c.12378G>C (p.Trp4126Cys) c.12375G>C (p.Trp4125Cys) c.12348G>C (p.Trp4116Cys) c.12330G>C (p.Trp4110Cys) c.12276G>C (p.Trp4092Cys) c.12195G>C (p.Trp4065Cys) c.12138G>C (p.Trp4046Cys) c.10224G>C (p.Trp3408Cys) c.9402G>C (p.Trp3134Cys) n.12242G>C c.12444G>C (p.Trp4148Cys) c.12372G>C (p.Trp4124Cys) c.12234G>C (p.Trp4078Cys) c.10320G>C (p.Trp3440Cys) | |
16 | g.2090405C>T | CA394325412 | PKD1 | c.12324G>A (p.Trp4108Ter) c.12321G>A (p.Trp4107Ter) n.352G>A c.9279G>A (p.Trp3093Ter) c.12402G>A (p.Trp4134Ter) c.12399G>A (p.Trp4133Ter) c.12384G>A (p.Trp4128Ter) c.12378G>A (p.Trp4126Ter) c.12375G>A (p.Trp4125Ter) c.12348G>A (p.Trp4116Ter) c.12330G>A (p.Trp4110Ter) c.12276G>A (p.Trp4092Ter) c.12195G>A (p.Trp4065Ter) c.12138G>A (p.Trp4046Ter) c.10224G>A (p.Trp3408Ter) c.9402G>A (p.Trp3134Ter) n.12242G>A c.12444G>A (p.Trp4148Ter) c.12372G>A (p.Trp4124Ter) c.12234G>A (p.Trp4078Ter) c.10320G>A (p.Trp3440Ter) | |
16 | g.2090406C>A | CA394325429 | PKD1 | c.12323G>T (p.Trp4108Leu) c.12320G>T (p.Trp4107Leu) n.351G>T c.9278G>T (p.Trp3093Leu) c.12401G>T (p.Trp4134Leu) c.12398G>T (p.Trp4133Leu) c.12383G>T (p.Trp4128Leu) c.12377G>T (p.Trp4126Leu) c.12374G>T (p.Trp4125Leu) c.12347G>T (p.Trp4116Leu) c.12329G>T (p.Trp4110Leu) c.12275G>T (p.Trp4092Leu) c.12194G>T (p.Trp4065Leu) c.12137G>T (p.Trp4046Leu) c.10223G>T (p.Trp3408Leu) c.9401G>T (p.Trp3134Leu) n.12241G>T c.12443G>T (p.Trp4148Leu) c.12371G>T (p.Trp4124Leu) c.12233G>T (p.Trp4078Leu) c.10319G>T (p.Trp3440Leu) | |
16 | g.2090406C>G | CA394325433 | PKD1 | c.12323G>C (p.Trp4108Ser) c.12320G>C (p.Trp4107Ser) n.351G>C c.9278G>C (p.Trp3093Ser) c.12401G>C (p.Trp4134Ser) c.12398G>C (p.Trp4133Ser) c.12383G>C (p.Trp4128Ser) c.12377G>C (p.Trp4126Ser) c.12374G>C (p.Trp4125Ser) c.12347G>C (p.Trp4116Ser) c.12329G>C (p.Trp4110Ser) c.12275G>C (p.Trp4092Ser) c.12194G>C (p.Trp4065Ser) c.12137G>C (p.Trp4046Ser) c.10223G>C (p.Trp3408Ser) c.9401G>C (p.Trp3134Ser) n.12241G>C c.12443G>C (p.Trp4148Ser) c.12371G>C (p.Trp4124Ser) c.12233G>C (p.Trp4078Ser) c.10319G>C (p.Trp3440Ser) | |
16 | g.2090406C>T | CA394325435 | PKD1 | c.12323G>A (p.Trp4108Ter) c.12320G>A (p.Trp4107Ter) n.351G>A c.9278G>A (p.Trp3093Ter) c.12401G>A (p.Trp4134Ter) c.12398G>A (p.Trp4133Ter) c.12383G>A (p.Trp4128Ter) c.12377G>A (p.Trp4126Ter) c.12374G>A (p.Trp4125Ter) c.12347G>A (p.Trp4116Ter) c.12329G>A (p.Trp4110Ter) c.12275G>A (p.Trp4092Ter) c.12194G>A (p.Trp4065Ter) c.12137G>A (p.Trp4046Ter) c.10223G>A (p.Trp3408Ter) c.9401G>A (p.Trp3134Ter) n.12241G>A c.12443G>A (p.Trp4148Ter) c.12371G>A (p.Trp4124Ter) c.12233G>A (p.Trp4078Ter) c.10319G>A (p.Trp3440Ter) | ClinVar |
16 | g.2090407A>C | CA394325438 | PKD1 | c.12322T>G (p.Trp4108Gly) c.12319T>G (p.Trp4107Gly) n.350T>G c.9277T>G (p.Trp3093Gly) c.12400T>G (p.Trp4134Gly) c.12397T>G (p.Trp4133Gly) c.12382T>G (p.Trp4128Gly) c.12376T>G (p.Trp4126Gly) c.12373T>G (p.Trp4125Gly) c.12346T>G (p.Trp4116Gly) c.12328T>G (p.Trp4110Gly) c.12274T>G (p.Trp4092Gly) c.12193T>G (p.Trp4065Gly) c.12136T>G (p.Trp4046Gly) c.10222T>G (p.Trp3408Gly) c.9400T>G (p.Trp3134Gly) n.12240T>G c.12442T>G (p.Trp4148Gly) c.12370T>G (p.Trp4124Gly) c.12232T>G (p.Trp4078Gly) c.10318T>G (p.Trp3440Gly) | |
16 | g.2090407A>G | CA394325441 | PKD1 | c.12322T>C (p.Trp4108Arg) c.12319T>C (p.Trp4107Arg) n.350T>C c.9277T>C (p.Trp3093Arg) c.12400T>C (p.Trp4134Arg) c.12397T>C (p.Trp4133Arg) c.12382T>C (p.Trp4128Arg) c.12376T>C (p.Trp4126Arg) c.12373T>C (p.Trp4125Arg) c.12346T>C (p.Trp4116Arg) c.12328T>C (p.Trp4110Arg) c.12274T>C (p.Trp4092Arg) c.12193T>C (p.Trp4065Arg) c.12136T>C (p.Trp4046Arg) c.10222T>C (p.Trp3408Arg) c.9400T>C (p.Trp3134Arg) n.12240T>C c.12442T>C (p.Trp4148Arg) c.12370T>C (p.Trp4124Arg) c.12232T>C (p.Trp4078Arg) c.10318T>C (p.Trp3440Arg) | gnomAD v4 |
16 | g.2090407A>T | CA394325443 | PKD1 | c.12322T>A (p.Trp4108Arg) c.12319T>A (p.Trp4107Arg) n.350T>A c.9277T>A (p.Trp3093Arg) c.12400T>A (p.Trp4134Arg) c.12397T>A (p.Trp4133Arg) c.12382T>A (p.Trp4128Arg) c.12376T>A (p.Trp4126Arg) c.12373T>A (p.Trp4125Arg) c.12346T>A (p.Trp4116Arg) c.12328T>A (p.Trp4110Arg) c.12274T>A (p.Trp4092Arg) c.12193T>A (p.Trp4065Arg) c.12136T>A (p.Trp4046Arg) c.10222T>A (p.Trp3408Arg) c.9400T>A (p.Trp3134Arg) n.12240T>A c.12442T>A (p.Trp4148Arg) c.12370T>A (p.Trp4124Arg) c.12232T>A (p.Trp4078Arg) c.10318T>A (p.Trp3440Arg) | |
16 | g.2090408G>A | CA493044366 | PKD1 | c.12321C>T (p.Arg4107=) c.12318C>T (p.Arg4106=) n.349C>T c.9276C>T (p.Arg3092=) c.12399C>T (p.Arg4133=) c.12396C>T (p.Arg4132=) c.12381C>T (p.Arg4127=) c.12375C>T (p.Arg4125=) c.12372C>T (p.Arg4124=) c.12345C>T (p.Arg4115=) c.12327C>T (p.Arg4109=) c.12273C>T (p.Arg4091=) c.12192C>T (p.Arg4064=) c.12135C>T (p.Arg4045=) c.10221C>T (p.Arg3407=) c.9399C>T (p.Arg3133=) n.12239C>T c.12441C>T (p.Arg4147=) c.12369C>T (p.Arg4123=) c.12231C>T (p.Arg4077=) c.10317C>T (p.Arg3439=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090408G>C | CA493044367 | PKD1 | c.12321C>G (p.Arg4107=) c.12318C>G (p.Arg4106=) n.349C>G c.9276C>G (p.Arg3092=) c.12399C>G (p.Arg4133=) c.12396C>G (p.Arg4132=) c.12381C>G (p.Arg4127=) c.12375C>G (p.Arg4125=) c.12372C>G (p.Arg4124=) c.12345C>G (p.Arg4115=) c.12327C>G (p.Arg4109=) c.12273C>G (p.Arg4091=) c.12192C>G (p.Arg4064=) c.12135C>G (p.Arg4045=) c.10221C>G (p.Arg3407=) c.9399C>G (p.Arg3133=) n.12239C>G c.12441C>G (p.Arg4147=) c.12369C>G (p.Arg4123=) c.12231C>G (p.Arg4077=) c.10317C>G (p.Arg3439=) | |
16 | g.2090408G= | CA2202041672 | PKD1 | c.12321C= (p.Arg4107=) c.12318C= (p.Arg4106=) n.349C= c.9276C= (p.Arg3092=) c.12399C= (p.Arg4133=) c.12396C= (p.Arg4132=) c.12381C= (p.Arg4127=) c.12375C= (p.Arg4125=) c.12372C= (p.Arg4124=) c.12345C= (p.Arg4115=) c.12327C= (p.Arg4109=) c.12273C= (p.Arg4091=) c.12192C= (p.Arg4064=) c.12135C= (p.Arg4045=) c.10221C= (p.Arg3407=) c.9399C= (p.Arg3133=) n.12239C= c.12441C= (p.Arg4147=) c.12369C= (p.Arg4123=) c.12231C= (p.Arg4077=) c.10317C= (p.Arg3439=) | |
16 | g.2090408G>T | CA493044368 | PKD1 | c.12321C>A (p.Arg4107=) c.12318C>A (p.Arg4106=) n.349C>A c.9276C>A (p.Arg3092=) c.12399C>A (p.Arg4133=) c.12396C>A (p.Arg4132=) c.12381C>A (p.Arg4127=) c.12375C>A (p.Arg4125=) c.12372C>A (p.Arg4124=) c.12345C>A (p.Arg4115=) c.12327C>A (p.Arg4109=) c.12273C>A (p.Arg4091=) c.12192C>A (p.Arg4064=) c.12135C>A (p.Arg4045=) c.10221C>A (p.Arg3407=) c.9399C>A (p.Arg3133=) n.12239C>A c.12441C>A (p.Arg4147=) c.12369C>A (p.Arg4123=) c.12231C>A (p.Arg4077=) c.10317C>A (p.Arg3439=) | |
16 | g.2090409C>A | CA394325457 | PKD1 | c.12320G>T (p.Arg4107Leu) c.12317G>T (p.Arg4106Leu) n.348G>T c.9275G>T (p.Arg3092Leu) c.12398G>T (p.Arg4133Leu) c.12395G>T (p.Arg4132Leu) c.12380G>T (p.Arg4127Leu) c.12374G>T (p.Arg4125Leu) c.12371G>T (p.Arg4124Leu) c.12344G>T (p.Arg4115Leu) c.12326G>T (p.Arg4109Leu) c.12272G>T (p.Arg4091Leu) c.12191G>T (p.Arg4064Leu) c.12134G>T (p.Arg4045Leu) c.10220G>T (p.Arg3407Leu) c.9398G>T (p.Arg3133Leu) n.12238G>T c.12440G>T (p.Arg4147Leu) c.12368G>T (p.Arg4123Leu) c.12230G>T (p.Arg4077Leu) c.10316G>T (p.Arg3439Leu) | |
16 | g.2090409C= | CA2202041679 | PKD1 | c.12320G= (p.Arg4107=) c.12317G= (p.Arg4106=) n.348G= c.9275G= (p.Arg3092=) c.12398G= (p.Arg4133=) c.12395G= (p.Arg4132=) c.12380G= (p.Arg4127=) c.12374G= (p.Arg4125=) c.12371G= (p.Arg4124=) c.12344G= (p.Arg4115=) c.12326G= (p.Arg4109=) c.12272G= (p.Arg4091=) c.12191G= (p.Arg4064=) c.12134G= (p.Arg4045=) c.10220G= (p.Arg3407=) c.9398G= (p.Arg3133=) n.12238G= c.12440G= (p.Arg4147=) c.12368G= (p.Arg4123=) c.12230G= (p.Arg4077=) c.10316G= (p.Arg3439=) | |
16 | g.2090409C>G | CA394325449 | PKD1 | c.12320G>C (p.Arg4107Pro) c.12317G>C (p.Arg4106Pro) n.348G>C c.9275G>C (p.Arg3092Pro) c.12398G>C (p.Arg4133Pro) c.12395G>C (p.Arg4132Pro) c.12380G>C (p.Arg4127Pro) c.12374G>C (p.Arg4125Pro) c.12371G>C (p.Arg4124Pro) c.12344G>C (p.Arg4115Pro) c.12326G>C (p.Arg4109Pro) c.12272G>C (p.Arg4091Pro) c.12191G>C (p.Arg4064Pro) c.12134G>C (p.Arg4045Pro) c.10220G>C (p.Arg3407Pro) c.9398G>C (p.Arg3133Pro) n.12238G>C c.12440G>C (p.Arg4147Pro) c.12368G>C (p.Arg4123Pro) c.12230G>C (p.Arg4077Pro) c.10316G>C (p.Arg3439Pro) | dbSNP gnomAD v4 |
16 | g.2090409C>T | CA7828684 | PKD1 | c.12320G>A (p.Arg4107His) c.12317G>A (p.Arg4106His) n.348G>A c.9275G>A (p.Arg3092His) c.12398G>A (p.Arg4133His) c.12395G>A (p.Arg4132His) c.12380G>A (p.Arg4127His) c.12374G>A (p.Arg4125His) c.12371G>A (p.Arg4124His) c.12344G>A (p.Arg4115His) c.12326G>A (p.Arg4109His) c.12272G>A (p.Arg4091His) c.12191G>A (p.Arg4064His) c.12134G>A (p.Arg4045His) c.10220G>A (p.Arg3407His) c.9398G>A (p.Arg3133His) n.12238G>A c.12440G>A (p.Arg4147His) c.12368G>A (p.Arg4123His) c.12230G>A (p.Arg4077His) c.10316G>A (p.Arg3439His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090410G>A | CA7828685 | PKD1 | c.12319C>T (p.Arg4107Cys) c.12316C>T (p.Arg4106Cys) n.347C>T c.9274C>T (p.Arg3092Cys) c.12397C>T (p.Arg4133Cys) c.12394C>T (p.Arg4132Cys) c.12379C>T (p.Arg4127Cys) c.12373C>T (p.Arg4125Cys) c.12370C>T (p.Arg4124Cys) c.12343C>T (p.Arg4115Cys) c.12325C>T (p.Arg4109Cys) c.12271C>T (p.Arg4091Cys) c.12190C>T (p.Arg4064Cys) c.12133C>T (p.Arg4045Cys) c.10219C>T (p.Arg3407Cys) c.9397C>T (p.Arg3133Cys) n.12237C>T c.12439C>T (p.Arg4147Cys) c.12367C>T (p.Arg4123Cys) c.12229C>T (p.Arg4077Cys) c.10315C>T (p.Arg3439Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090410G>C | CA394325465 | PKD1 | c.12319C>G (p.Arg4107Gly) c.12316C>G (p.Arg4106Gly) n.347C>G c.9274C>G (p.Arg3092Gly) c.12397C>G (p.Arg4133Gly) c.12394C>G (p.Arg4132Gly) c.12379C>G (p.Arg4127Gly) c.12373C>G (p.Arg4125Gly) c.12370C>G (p.Arg4124Gly) c.12343C>G (p.Arg4115Gly) c.12325C>G (p.Arg4109Gly) c.12271C>G (p.Arg4091Gly) c.12190C>G (p.Arg4064Gly) c.12133C>G (p.Arg4045Gly) c.10219C>G (p.Arg3407Gly) c.9397C>G (p.Arg3133Gly) n.12237C>G c.12439C>G (p.Arg4147Gly) c.12367C>G (p.Arg4123Gly) c.12229C>G (p.Arg4077Gly) c.10315C>G (p.Arg3439Gly) | |
16 | g.2090410G= | CA2202041686 | PKD1 | c.12319C= (p.Arg4107=) c.12316C= (p.Arg4106=) n.347C= c.9274C= (p.Arg3092=) c.12397C= (p.Arg4133=) c.12394C= (p.Arg4132=) c.12379C= (p.Arg4127=) c.12373C= (p.Arg4125=) c.12370C= (p.Arg4124=) c.12343C= (p.Arg4115=) c.12325C= (p.Arg4109=) c.12271C= (p.Arg4091=) c.12190C= (p.Arg4064=) c.12133C= (p.Arg4045=) c.10219C= (p.Arg3407=) c.9397C= (p.Arg3133=) n.12237C= c.12439C= (p.Arg4147=) c.12367C= (p.Arg4123=) c.12229C= (p.Arg4077=) c.10315C= (p.Arg3439=) | |
16 | g.2090410G>T | CA394325468 | PKD1 | c.12319C>A (p.Arg4107Ser) c.12316C>A (p.Arg4106Ser) n.347C>A c.9274C>A (p.Arg3092Ser) c.12397C>A (p.Arg4133Ser) c.12394C>A (p.Arg4132Ser) c.12379C>A (p.Arg4127Ser) c.12373C>A (p.Arg4125Ser) c.12370C>A (p.Arg4124Ser) c.12343C>A (p.Arg4115Ser) c.12325C>A (p.Arg4109Ser) c.12271C>A (p.Arg4091Ser) c.12190C>A (p.Arg4064Ser) c.12133C>A (p.Arg4045Ser) c.10219C>A (p.Arg3407Ser) c.9397C>A (p.Arg3133Ser) n.12237C>A c.12439C>A (p.Arg4147Ser) c.12367C>A (p.Arg4123Ser) c.12229C>A (p.Arg4077Ser) c.10315C>A (p.Arg3439Ser) | |
16 | g.2090411G>A | CA7828687 | PKD1 | c.12318C>T (p.Leu4106=) c.12315C>T (p.Leu4105=) n.346C>T c.9273C>T (p.Leu3091=) c.12396C>T (p.Leu4132=) c.12393C>T (p.Leu4131=) c.12378C>T (p.Leu4126=) c.12372C>T (p.Leu4124=) c.12369C>T (p.Leu4123=) c.12342C>T (p.Leu4114=) c.12324C>T (p.Leu4108=) c.12270C>T (p.Leu4090=) c.12189C>T (p.Leu4063=) c.12132C>T (p.Leu4044=) c.10218C>T (p.Leu3406=) c.9396C>T (p.Leu3132=) n.12236C>T c.12438C>T (p.Leu4146=) c.12366C>T (p.Leu4122=) c.12228C>T (p.Leu4076=) c.10314C>T (p.Leu3438=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090411G>C | CA7828686 | PKD1 | c.12318C>G (p.Leu4106=) c.12315C>G (p.Leu4105=) n.346C>G c.9273C>G (p.Leu3091=) c.12396C>G (p.Leu4132=) c.12393C>G (p.Leu4131=) c.12378C>G (p.Leu4126=) c.12372C>G (p.Leu4124=) c.12369C>G (p.Leu4123=) c.12342C>G (p.Leu4114=) c.12324C>G (p.Leu4108=) c.12270C>G (p.Leu4090=) c.12189C>G (p.Leu4063=) c.12132C>G (p.Leu4044=) c.10218C>G (p.Leu3406=) c.9396C>G (p.Leu3132=) n.12236C>G c.12438C>G (p.Leu4146=) c.12366C>G (p.Leu4122=) c.12228C>G (p.Leu4076=) c.10314C>G (p.Leu3438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090411G= | CA2202041688 | PKD1 | c.12318C= (p.Leu4106=) c.12315C= (p.Leu4105=) n.346C= c.9273C= (p.Leu3091=) c.12396C= (p.Leu4132=) c.12393C= (p.Leu4131=) c.12378C= (p.Leu4126=) c.12372C= (p.Leu4124=) c.12369C= (p.Leu4123=) c.12342C= (p.Leu4114=) c.12324C= (p.Leu4108=) c.12270C= (p.Leu4090=) c.12189C= (p.Leu4063=) c.12132C= (p.Leu4044=) c.10218C= (p.Leu3406=) c.9396C= (p.Leu3132=) n.12236C= c.12438C= (p.Leu4146=) c.12366C= (p.Leu4122=) c.12228C= (p.Leu4076=) c.10314C= (p.Leu3438=) | |
16 | g.2090411G>T | CA493044372 | PKD1 | c.12318C>A (p.Leu4106=) c.12315C>A (p.Leu4105=) n.346C>A c.9273C>A (p.Leu3091=) c.12396C>A (p.Leu4132=) c.12393C>A (p.Leu4131=) c.12378C>A (p.Leu4126=) c.12372C>A (p.Leu4124=) c.12369C>A (p.Leu4123=) c.12342C>A (p.Leu4114=) c.12324C>A (p.Leu4108=) c.12270C>A (p.Leu4090=) c.12189C>A (p.Leu4063=) c.12132C>A (p.Leu4044=) c.10218C>A (p.Leu3406=) c.9396C>A (p.Leu3132=) n.12236C>A c.12438C>A (p.Leu4146=) c.12366C>A (p.Leu4122=) c.12228C>A (p.Leu4076=) c.10314C>A (p.Leu3438=) | |
16 | g.2090412A>C | CA394325477 | PKD1 | c.12317T>G (p.Leu4106Arg) c.12314T>G (p.Leu4105Arg) n.345T>G c.9272T>G (p.Leu3091Arg) c.12395T>G (p.Leu4132Arg) c.12392T>G (p.Leu4131Arg) c.12377T>G (p.Leu4126Arg) c.12371T>G (p.Leu4124Arg) c.12368T>G (p.Leu4123Arg) c.12341T>G (p.Leu4114Arg) c.12323T>G (p.Leu4108Arg) c.12269T>G (p.Leu4090Arg) c.12188T>G (p.Leu4063Arg) c.12131T>G (p.Leu4044Arg) c.10217T>G (p.Leu3406Arg) c.9395T>G (p.Leu3132Arg) n.12235T>G c.12437T>G (p.Leu4146Arg) c.12365T>G (p.Leu4122Arg) c.12227T>G (p.Leu4076Arg) c.10313T>G (p.Leu3438Arg) | |
16 | g.2090412A>G | CA394325483 | PKD1 | c.12317T>C (p.Leu4106Pro) c.12314T>C (p.Leu4105Pro) n.345T>C c.9272T>C (p.Leu3091Pro) c.12395T>C (p.Leu4132Pro) c.12392T>C (p.Leu4131Pro) c.12377T>C (p.Leu4126Pro) c.12371T>C (p.Leu4124Pro) c.12368T>C (p.Leu4123Pro) c.12341T>C (p.Leu4114Pro) c.12323T>C (p.Leu4108Pro) c.12269T>C (p.Leu4090Pro) c.12188T>C (p.Leu4063Pro) c.12131T>C (p.Leu4044Pro) c.10217T>C (p.Leu3406Pro) c.9395T>C (p.Leu3132Pro) n.12235T>C c.12437T>C (p.Leu4146Pro) c.12365T>C (p.Leu4122Pro) c.12227T>C (p.Leu4076Pro) c.10313T>C (p.Leu3438Pro) | |
16 | g.2090412A>T | CA394325479 | PKD1 | c.12317T>A (p.Leu4106His) c.12314T>A (p.Leu4105His) n.345T>A c.9272T>A (p.Leu3091His) c.12395T>A (p.Leu4132His) c.12392T>A (p.Leu4131His) c.12377T>A (p.Leu4126His) c.12371T>A (p.Leu4124His) c.12368T>A (p.Leu4123His) c.12341T>A (p.Leu4114His) c.12323T>A (p.Leu4108His) c.12269T>A (p.Leu4090His) c.12188T>A (p.Leu4063His) c.12131T>A (p.Leu4044His) c.10217T>A (p.Leu3406His) c.9395T>A (p.Leu3132His) n.12235T>A c.12437T>A (p.Leu4146His) c.12365T>A (p.Leu4122His) c.12227T>A (p.Leu4076His) c.10313T>A (p.Leu3438His) | |
16 | g.2090413G>A | CA7828688 | PKD1 | c.12316C>T (p.Leu4106Phe) c.12313C>T (p.Leu4105Phe) n.344C>T c.9271C>T (p.Leu3091Phe) c.12394C>T (p.Leu4132Phe) c.12391C>T (p.Leu4131Phe) c.12376C>T (p.Leu4126Phe) c.12370C>T (p.Leu4124Phe) c.12367C>T (p.Leu4123Phe) c.12340C>T (p.Leu4114Phe) c.12322C>T (p.Leu4108Phe) c.12268C>T (p.Leu4090Phe) c.12187C>T (p.Leu4063Phe) c.12130C>T (p.Leu4044Phe) c.10216C>T (p.Leu3406Phe) c.9394C>T (p.Leu3132Phe) n.12234C>T c.12436C>T (p.Leu4146Phe) c.12364C>T (p.Leu4122Phe) c.12226C>T (p.Leu4076Phe) c.10312C>T (p.Leu3438Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090413G>C | CA394325489 | PKD1 | c.12316C>G (p.Leu4106Val) c.12313C>G (p.Leu4105Val) n.344C>G c.9271C>G (p.Leu3091Val) c.12394C>G (p.Leu4132Val) c.12391C>G (p.Leu4131Val) c.12376C>G (p.Leu4126Val) c.12370C>G (p.Leu4124Val) c.12367C>G (p.Leu4123Val) c.12340C>G (p.Leu4114Val) c.12322C>G (p.Leu4108Val) c.12268C>G (p.Leu4090Val) c.12187C>G (p.Leu4063Val) c.12130C>G (p.Leu4044Val) c.10216C>G (p.Leu3406Val) c.9394C>G (p.Leu3132Val) n.12234C>G c.12436C>G (p.Leu4146Val) c.12364C>G (p.Leu4122Val) c.12226C>G (p.Leu4076Val) c.10312C>G (p.Leu3438Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090413G= | CA2202041692 | PKD1 | c.12316C= (p.Leu4106=) c.12313C= (p.Leu4105=) n.344C= c.9271C= (p.Leu3091=) c.12394C= (p.Leu4132=) c.12391C= (p.Leu4131=) c.12376C= (p.Leu4126=) c.12370C= (p.Leu4124=) c.12367C= (p.Leu4123=) c.12340C= (p.Leu4114=) c.12322C= (p.Leu4108=) c.12268C= (p.Leu4090=) c.12187C= (p.Leu4063=) c.12130C= (p.Leu4044=) c.10216C= (p.Leu3406=) c.9394C= (p.Leu3132=) n.12234C= c.12436C= (p.Leu4146=) c.12364C= (p.Leu4122=) c.12226C= (p.Leu4076=) c.10312C= (p.Leu3438=) | |
16 | g.2090413G>T | CA394325498 | PKD1 | c.12316C>A (p.Leu4106Ile) c.12313C>A (p.Leu4105Ile) n.344C>A c.9271C>A (p.Leu3091Ile) c.12394C>A (p.Leu4132Ile) c.12391C>A (p.Leu4131Ile) c.12376C>A (p.Leu4126Ile) c.12370C>A (p.Leu4124Ile) c.12367C>A (p.Leu4123Ile) c.12340C>A (p.Leu4114Ile) c.12322C>A (p.Leu4108Ile) c.12268C>A (p.Leu4090Ile) c.12187C>A (p.Leu4063Ile) c.12130C>A (p.Leu4044Ile) c.10216C>A (p.Leu3406Ile) c.9394C>A (p.Leu3132Ile) n.12234C>A c.12436C>A (p.Leu4146Ile) c.12364C>A (p.Leu4122Ile) c.12226C>A (p.Leu4076Ile) c.10312C>A (p.Leu3438Ile) | |
16 | g.2090414A>C | CA394325503 | PKD1 | c.12315T>G (p.Ile4105Met) c.12312T>G (p.Ile4104Met) n.343T>G c.9270T>G (p.Ile3090Met) c.12393T>G (p.Ile4131Met) c.12390T>G (p.Ile4130Met) c.12375T>G (p.Ile4125Met) c.12369T>G (p.Ile4123Met) c.12366T>G (p.Ile4122Met) c.12339T>G (p.Ile4113Met) c.12321T>G (p.Ile4107Met) c.12267T>G (p.Ile4089Met) c.12186T>G (p.Ile4062Met) c.12129T>G (p.Ile4043Met) c.10215T>G (p.Ile3405Met) c.9393T>G (p.Ile3131Met) n.12233T>G c.12435T>G (p.Ile4145Met) c.12363T>G (p.Ile4121Met) c.12225T>G (p.Ile4075Met) c.10311T>G (p.Ile3437Met) | |
16 | g.2090414A>G | CA493044376 | PKD1 | c.12315T>C (p.Ile4105=) c.12312T>C (p.Ile4104=) n.343T>C c.9270T>C (p.Ile3090=) c.12393T>C (p.Ile4131=) c.12390T>C (p.Ile4130=) c.12375T>C (p.Ile4125=) c.12369T>C (p.Ile4123=) c.12366T>C (p.Ile4122=) c.12339T>C (p.Ile4113=) c.12321T>C (p.Ile4107=) c.12267T>C (p.Ile4089=) c.12186T>C (p.Ile4062=) c.12129T>C (p.Ile4043=) c.10215T>C (p.Ile3405=) c.9393T>C (p.Ile3131=) n.12233T>C c.12435T>C (p.Ile4145=) c.12363T>C (p.Ile4121=) c.12225T>C (p.Ile4075=) c.10311T>C (p.Ile3437=) | |
16 | g.2090414A>T | CA493044377 | PKD1 | c.12315T>A (p.Ile4105=) c.12312T>A (p.Ile4104=) n.343T>A c.9270T>A (p.Ile3090=) c.12393T>A (p.Ile4131=) c.12390T>A (p.Ile4130=) c.12375T>A (p.Ile4125=) c.12369T>A (p.Ile4123=) c.12366T>A (p.Ile4122=) c.12339T>A (p.Ile4113=) c.12321T>A (p.Ile4107=) c.12267T>A (p.Ile4089=) c.12186T>A (p.Ile4062=) c.12129T>A (p.Ile4043=) c.10215T>A (p.Ile3405=) c.9393T>A (p.Ile3131=) n.12233T>A c.12435T>A (p.Ile4145=) c.12363T>A (p.Ile4121=) c.12225T>A (p.Ile4075=) c.10311T>A (p.Ile3437=) | |
16 | g.2090415A= | CA2202041697 | PKD1 | c.12314T= (p.Ile4105=) c.12311T= (p.Ile4104=) n.342T= c.9269T= (p.Ile3090=) c.12392T= (p.Ile4131=) c.12389T= (p.Ile4130=) c.12374T= (p.Ile4125=) c.12368T= (p.Ile4123=) c.12365T= (p.Ile4122=) c.12338T= (p.Ile4113=) c.12320T= (p.Ile4107=) c.12266T= (p.Ile4089=) c.12185T= (p.Ile4062=) c.12128T= (p.Ile4043=) c.10214T= (p.Ile3405=) c.9392T= (p.Ile3131=) n.12232T= c.12434T= (p.Ile4145=) c.12362T= (p.Ile4121=) c.12224T= (p.Ile4075=) c.10310T= (p.Ile3437=) | |
16 | g.2090415A>C | CA394325509 | PKD1 | c.12314T>G (p.Ile4105Ser) c.12311T>G (p.Ile4104Ser) n.342T>G c.9269T>G (p.Ile3090Ser) c.12392T>G (p.Ile4131Ser) c.12389T>G (p.Ile4130Ser) c.12374T>G (p.Ile4125Ser) c.12368T>G (p.Ile4123Ser) c.12365T>G (p.Ile4122Ser) c.12338T>G (p.Ile4113Ser) c.12320T>G (p.Ile4107Ser) c.12266T>G (p.Ile4089Ser) c.12185T>G (p.Ile4062Ser) c.12128T>G (p.Ile4043Ser) c.10214T>G (p.Ile3405Ser) c.9392T>G (p.Ile3131Ser) n.12232T>G c.12434T>G (p.Ile4145Ser) c.12362T>G (p.Ile4121Ser) c.12224T>G (p.Ile4075Ser) c.10310T>G (p.Ile3437Ser) | |
16 | g.2090415A>G | CA7828689 | PKD1 | c.12314T>C (p.Ile4105Thr) c.12311T>C (p.Ile4104Thr) n.342T>C c.9269T>C (p.Ile3090Thr) c.12392T>C (p.Ile4131Thr) c.12389T>C (p.Ile4130Thr) c.12374T>C (p.Ile4125Thr) c.12368T>C (p.Ile4123Thr) c.12365T>C (p.Ile4122Thr) c.12338T>C (p.Ile4113Thr) c.12320T>C (p.Ile4107Thr) c.12266T>C (p.Ile4089Thr) c.12185T>C (p.Ile4062Thr) c.12128T>C (p.Ile4043Thr) c.10214T>C (p.Ile3405Thr) c.9392T>C (p.Ile3131Thr) n.12232T>C c.12434T>C (p.Ile4145Thr) c.12362T>C (p.Ile4121Thr) c.12224T>C (p.Ile4075Thr) c.10310T>C (p.Ile3437Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090415A>T | CA394325516 | PKD1 | c.12314T>A (p.Ile4105Asn) c.12311T>A (p.Ile4104Asn) n.342T>A c.9269T>A (p.Ile3090Asn) c.12392T>A (p.Ile4131Asn) c.12389T>A (p.Ile4130Asn) c.12374T>A (p.Ile4125Asn) c.12368T>A (p.Ile4123Asn) c.12365T>A (p.Ile4122Asn) c.12338T>A (p.Ile4113Asn) c.12320T>A (p.Ile4107Asn) c.12266T>A (p.Ile4089Asn) c.12185T>A (p.Ile4062Asn) c.12128T>A (p.Ile4043Asn) c.10214T>A (p.Ile3405Asn) c.9392T>A (p.Ile3131Asn) n.12232T>A c.12434T>A (p.Ile4145Asn) c.12362T>A (p.Ile4121Asn) c.12224T>A (p.Ile4075Asn) c.10310T>A (p.Ile3437Asn) | |
16 | g.2090416T>A | CA394325517 | PKD1 | c.12313A>T (p.Ile4105Phe) c.12310A>T (p.Ile4104Phe) n.341A>T c.9268A>T (p.Ile3090Phe) c.12391A>T (p.Ile4131Phe) c.12388A>T (p.Ile4130Phe) c.12373A>T (p.Ile4125Phe) c.12367A>T (p.Ile4123Phe) c.12364A>T (p.Ile4122Phe) c.12337A>T (p.Ile4113Phe) c.12319A>T (p.Ile4107Phe) c.12265A>T (p.Ile4089Phe) c.12184A>T (p.Ile4062Phe) c.12127A>T (p.Ile4043Phe) c.10213A>T (p.Ile3405Phe) c.9391A>T (p.Ile3131Phe) n.12231A>T c.12433A>T (p.Ile4145Phe) c.12361A>T (p.Ile4121Phe) c.12223A>T (p.Ile4075Phe) c.10309A>T (p.Ile3437Phe) | |
16 | g.2090416T>C | CA394325518 | PKD1 | c.12313A>G (p.Ile4105Val) c.12310A>G (p.Ile4104Val) n.341A>G c.9268A>G (p.Ile3090Val) c.12391A>G (p.Ile4131Val) c.12388A>G (p.Ile4130Val) c.12373A>G (p.Ile4125Val) c.12367A>G (p.Ile4123Val) c.12364A>G (p.Ile4122Val) c.12337A>G (p.Ile4113Val) c.12319A>G (p.Ile4107Val) c.12265A>G (p.Ile4089Val) c.12184A>G (p.Ile4062Val) c.12127A>G (p.Ile4043Val) c.10213A>G (p.Ile3405Val) c.9391A>G (p.Ile3131Val) n.12231A>G c.12433A>G (p.Ile4145Val) c.12361A>G (p.Ile4121Val) c.12223A>G (p.Ile4075Val) c.10309A>G (p.Ile3437Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090416T>G | CA7828690 | PKD1 | c.12313A>C (p.Ile4105Leu) c.12310A>C (p.Ile4104Leu) n.341A>C c.9268A>C (p.Ile3090Leu) c.12391A>C (p.Ile4131Leu) c.12388A>C (p.Ile4130Leu) c.12373A>C (p.Ile4125Leu) c.12367A>C (p.Ile4123Leu) c.12364A>C (p.Ile4122Leu) c.12337A>C (p.Ile4113Leu) c.12319A>C (p.Ile4107Leu) c.12265A>C (p.Ile4089Leu) c.12184A>C (p.Ile4062Leu) c.12127A>C (p.Ile4043Leu) c.10213A>C (p.Ile3405Leu) c.9391A>C (p.Ile3131Leu) n.12231A>C c.12433A>C (p.Ile4145Leu) c.12361A>C (p.Ile4121Leu) c.12223A>C (p.Ile4075Leu) c.10309A>C (p.Ile3437Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090416T= | CA2202041704 | PKD1 | c.12313A= (p.Ile4105=) c.12310A= (p.Ile4104=) n.341A= c.9268A= (p.Ile3090=) c.12391A= (p.Ile4131=) c.12388A= (p.Ile4130=) c.12373A= (p.Ile4125=) c.12367A= (p.Ile4123=) c.12364A= (p.Ile4122=) c.12337A= (p.Ile4113=) c.12319A= (p.Ile4107=) c.12265A= (p.Ile4089=) c.12184A= (p.Ile4062=) c.12127A= (p.Ile4043=) c.10213A= (p.Ile3405=) c.9391A= (p.Ile3131=) n.12231A= c.12433A= (p.Ile4145=) c.12361A= (p.Ile4121=) c.12223A= (p.Ile4075=) c.10309A= (p.Ile3437=) | |
16 | g.2090416dup | CA2695221520 | PKD1 | c.12313dup (p.Ile4105AsnfsTer?) c.12310dup (p.Ile4104AsnfsTer?) n.341dup c.9268dup (p.Ile3090AsnfsTer?) c.12391dup (p.Ile4131AsnfsTer?) c.12388dup (p.Ile4130AsnfsTer?) c.12373dup (p.Ile4125AsnfsTer?) c.12367dup (p.Ile4123AsnfsTer?) c.12364dup (p.Ile4122AsnfsTer?) c.12337dup (p.Ile4113AsnfsTer?) c.12319dup (p.Ile4107AsnfsTer?) c.12265dup (p.Ile4089AsnfsTer?) c.12184dup (p.Ile4062AsnfsTer?) c.12127dup (p.Ile4043AsnfsTer?) c.10213dup (p.Ile3405AsnfsTer?) c.9391dup (p.Ile3131AsnfsTer?) n.12231dup c.12433dup (p.Ile4145AsnfsTer?) c.12361dup (p.Ile4121AsnfsTer?) c.12223dup (p.Ile4075AsnfsTer?) c.10309dup (p.Ile3437AsnfsTer?) | |
16 | g.2090416_2090419del | CA2695221519 | PKD1 | c.12310_12313del (p.Val4104PhefsTer?) c.12307_12310del (p.Val4103PhefsTer?) n.338_341del c.9265_9268del (p.Val3089PhefsTer?) c.12388_12391del (p.Val4130PhefsTer?) c.12385_12388del (p.Val4129PhefsTer?) c.12370_12373del (p.Val4124PhefsTer?) c.12364_12367del (p.Val4122PhefsTer?) c.12361_12364del (p.Val4121PhefsTer?) c.12334_12337del (p.Val4112PhefsTer?) c.12316_12319del (p.Val4106PhefsTer?) c.12262_12265del (p.Val4088PhefsTer?) c.12181_12184del (p.Val4061PhefsTer?) c.12124_12127del (p.Val4042PhefsTer?) c.10210_10213del (p.Val3404PhefsTer?) c.9388_9391del (p.Val3130PhefsTer?) n.12228_12231del c.12430_12433del (p.Val4144PhefsTer?) c.12358_12361del (p.Val4120PhefsTer?) c.12220_12223del (p.Val4074PhefsTer?) c.10306_10309del (p.Val3436PhefsTer?) | |
16 | g.2090416_2090419delinsTAAC | CA2202041703 | PKD1 | c.12310_12313delinsGTTA (p.Val4104=) c.12307_12310delinsGTTA (p.Val4103=) n.338_341delinsGTTA c.9265_9268delinsGTTA (p.Val3089=) c.12388_12391delinsGTTA (p.Val4130=) c.12385_12388delinsGTTA (p.Val4129=) c.12370_12373delinsGTTA (p.Val4124=) c.12364_12367delinsGTTA (p.Val4122=) c.12361_12364delinsGTTA (p.Val4121=) c.12334_12337delinsGTTA (p.Val4112=) c.12316_12319delinsGTTA (p.Val4106=) c.12262_12265delinsGTTA (p.Val4088=) c.12181_12184delinsGTTA (p.Val4061=) c.12124_12127delinsGTTA (p.Val4042=) c.10210_10213delinsGTTA (p.Val3404=) c.9388_9391delinsGTTA (p.Val3130=) n.12228_12231delinsGTTA c.12430_12433delinsGTTA (p.Val4144=) c.12358_12361delinsGTTA (p.Val4120=) c.12220_12223delinsGTTA (p.Val4074=) c.10306_10309delinsGTTA (p.Val3436=) | |
16 | g.2090416_2090419dup | CA16620106 | PKD1 | c.12310_12313dup (p.Ile4105SerfsTer?) c.12307_12310dup (p.Ile4104SerfsTer?) n.338_341dup c.9265_9268dup (p.Ile3090SerfsTer?) c.12388_12391dup (p.Ile4131SerfsTer?) c.12385_12388dup (p.Ile4130SerfsTer?) c.12370_12373dup (p.Ile4125SerfsTer?) c.12364_12367dup (p.Ile4123SerfsTer?) c.12361_12364dup (p.Ile4122SerfsTer?) c.12334_12337dup (p.Ile4113SerfsTer?) c.12316_12319dup (p.Ile4107SerfsTer?) c.12262_12265dup (p.Ile4089SerfsTer?) c.12181_12184dup (p.Ile4062SerfsTer?) c.12124_12127dup (p.Ile4043SerfsTer?) c.10210_10213dup (p.Ile3405SerfsTer?) c.9388_9391dup (p.Ile3131SerfsTer?) n.12228_12231dup c.12430_12433dup (p.Ile4145SerfsTer?) c.12358_12361dup (p.Ile4121SerfsTer?) c.12220_12223dup (p.Ile4075SerfsTer?) c.10306_10309dup (p.Ile3437SerfsTer?) | ClinVar dbSNP |
16 | g.2090417A= | CA2202041712 | PKD1 | c.12312T= (p.Val4104=) c.12309T= (p.Val4103=) n.340T= c.9267T= (p.Val3089=) c.12390T= (p.Val4130=) c.12387T= (p.Val4129=) c.12372T= (p.Val4124=) c.12366T= (p.Val4122=) c.12363T= (p.Val4121=) c.12336T= (p.Val4112=) c.12318T= (p.Val4106=) c.12264T= (p.Val4088=) c.12183T= (p.Val4061=) c.12126T= (p.Val4042=) c.10212T= (p.Val3404=) c.9390T= (p.Val3130=) n.12230T= c.12432T= (p.Val4144=) c.12360T= (p.Val4120=) c.12222T= (p.Val4074=) c.10308T= (p.Val3436=) | |
16 | g.2090417A>C | CA493044381 | PKD1 | c.12312T>G (p.Val4104=) c.12309T>G (p.Val4103=) n.340T>G c.9267T>G (p.Val3089=) c.12390T>G (p.Val4130=) c.12387T>G (p.Val4129=) c.12372T>G (p.Val4124=) c.12366T>G (p.Val4122=) c.12363T>G (p.Val4121=) c.12336T>G (p.Val4112=) c.12318T>G (p.Val4106=) c.12264T>G (p.Val4088=) c.12183T>G (p.Val4061=) c.12126T>G (p.Val4042=) c.10212T>G (p.Val3404=) c.9390T>G (p.Val3130=) n.12230T>G c.12432T>G (p.Val4144=) c.12360T>G (p.Val4120=) c.12222T>G (p.Val4074=) c.10308T>G (p.Val3436=) | |
16 | g.2090417A>G | CA7828691 | PKD1 | c.12312T>C (p.Val4104=) c.12309T>C (p.Val4103=) n.340T>C c.9267T>C (p.Val3089=) c.12390T>C (p.Val4130=) c.12387T>C (p.Val4129=) c.12372T>C (p.Val4124=) c.12366T>C (p.Val4122=) c.12363T>C (p.Val4121=) c.12336T>C (p.Val4112=) c.12318T>C (p.Val4106=) c.12264T>C (p.Val4088=) c.12183T>C (p.Val4061=) c.12126T>C (p.Val4042=) c.10212T>C (p.Val3404=) c.9390T>C (p.Val3130=) n.12230T>C c.12432T>C (p.Val4144=) c.12360T>C (p.Val4120=) c.12222T>C (p.Val4074=) c.10308T>C (p.Val3436=) | dbSNP ExAC gnomAD v2 |
16 | g.2090417A>T | CA493044382 | PKD1 | c.12312T>A (p.Val4104=) c.12309T>A (p.Val4103=) n.340T>A c.9267T>A (p.Val3089=) c.12390T>A (p.Val4130=) c.12387T>A (p.Val4129=) c.12372T>A (p.Val4124=) c.12366T>A (p.Val4122=) c.12363T>A (p.Val4121=) c.12336T>A (p.Val4112=) c.12318T>A (p.Val4106=) c.12264T>A (p.Val4088=) c.12183T>A (p.Val4061=) c.12126T>A (p.Val4042=) c.10212T>A (p.Val3404=) c.9390T>A (p.Val3130=) n.12230T>A c.12432T>A (p.Val4144=) c.12360T>A (p.Val4120=) c.12222T>A (p.Val4074=) c.10308T>A (p.Val3436=) | |
16 | g.2090417_2090419delinsAAC | CA2202041715 | PKD1 | c.12310_12312delinsGTT (p.Val4104=) c.12307_12309delinsGTT (p.Val4103=) n.338_340delinsGTT c.9265_9267delinsGTT (p.Val3089=) c.12388_12390delinsGTT (p.Val4130=) c.12385_12387delinsGTT (p.Val4129=) c.12370_12372delinsGTT (p.Val4124=) c.12364_12366delinsGTT (p.Val4122=) c.12361_12363delinsGTT (p.Val4121=) c.12334_12336delinsGTT (p.Val4112=) c.12316_12318delinsGTT (p.Val4106=) c.12262_12264delinsGTT (p.Val4088=) c.12181_12183delinsGTT (p.Val4061=) c.12124_12126delinsGTT (p.Val4042=) c.10210_10212delinsGTT (p.Val3404=) c.9388_9390delinsGTT (p.Val3130=) n.12228_12230delinsGTT c.12430_12432delinsGTT (p.Val4144=) c.12358_12360delinsGTT (p.Val4120=) c.12220_12222delinsGTT (p.Val4074=) c.10306_10308delinsGTT (p.Val3436=) | |
16 | g.2090418_2090420del | CA718966366 | PKD1 | c.12310_12312del (p.Val4104del) c.12307_12309del (p.Val4103del) n.338_340del c.9265_9267del (p.Val3089del) c.12388_12390del (p.Val4130del) c.12385_12387del (p.Val4129del) c.12370_12372del (p.Val4124del) c.12364_12366del (p.Val4122del) c.12361_12363del (p.Val4121del) c.12334_12336del (p.Val4112del) c.12316_12318del (p.Val4106del) c.12262_12264del (p.Val4088del) c.12181_12183del (p.Val4061del) c.12124_12126del (p.Val4042del) c.10210_10212del (p.Val3404del) c.9388_9390del (p.Val3130del) n.12228_12230del c.12430_12432del (p.Val4144del) c.12358_12360del (p.Val4120del) c.12220_12222del (p.Val4074del) c.10306_10308del (p.Val3436del) | dbSNP gnomAD v4 |
16 | g.2090418A>C | CA394325539 | PKD1 | c.12311T>G (p.Val4104Gly) c.12308T>G (p.Val4103Gly) n.339T>G c.9266T>G (p.Val3089Gly) c.12389T>G (p.Val4130Gly) c.12386T>G (p.Val4129Gly) c.12371T>G (p.Val4124Gly) c.12365T>G (p.Val4122Gly) c.12362T>G (p.Val4121Gly) c.12335T>G (p.Val4112Gly) c.12317T>G (p.Val4106Gly) c.12263T>G (p.Val4088Gly) c.12182T>G (p.Val4061Gly) c.12125T>G (p.Val4042Gly) c.10211T>G (p.Val3404Gly) c.9389T>G (p.Val3130Gly) n.12229T>G c.12431T>G (p.Val4144Gly) c.12359T>G (p.Val4120Gly) c.12221T>G (p.Val4074Gly) c.10307T>G (p.Val3436Gly) | |
16 | g.2090418A>G | CA394325530 | PKD1 | c.12311T>C (p.Val4104Ala) c.12308T>C (p.Val4103Ala) n.339T>C c.9266T>C (p.Val3089Ala) c.12389T>C (p.Val4130Ala) c.12386T>C (p.Val4129Ala) c.12371T>C (p.Val4124Ala) c.12365T>C (p.Val4122Ala) c.12362T>C (p.Val4121Ala) c.12335T>C (p.Val4112Ala) c.12317T>C (p.Val4106Ala) c.12263T>C (p.Val4088Ala) c.12182T>C (p.Val4061Ala) c.12125T>C (p.Val4042Ala) c.10211T>C (p.Val3404Ala) c.9389T>C (p.Val3130Ala) n.12229T>C c.12431T>C (p.Val4144Ala) c.12359T>C (p.Val4120Ala) c.12221T>C (p.Val4074Ala) c.10307T>C (p.Val3436Ala) | |
16 | g.2090418A>T | CA394325527 | PKD1 | c.12311T>A (p.Val4104Asp) c.12308T>A (p.Val4103Asp) n.339T>A c.9266T>A (p.Val3089Asp) c.12389T>A (p.Val4130Asp) c.12386T>A (p.Val4129Asp) c.12371T>A (p.Val4124Asp) c.12365T>A (p.Val4122Asp) c.12362T>A (p.Val4121Asp) c.12335T>A (p.Val4112Asp) c.12317T>A (p.Val4106Asp) c.12263T>A (p.Val4088Asp) c.12182T>A (p.Val4061Asp) c.12125T>A (p.Val4042Asp) c.10211T>A (p.Val3404Asp) c.9389T>A (p.Val3130Asp) n.12229T>A c.12431T>A (p.Val4144Asp) c.12359T>A (p.Val4120Asp) c.12221T>A (p.Val4074Asp) c.10307T>A (p.Val3436Asp) | |
16 | g.2090419_2090420del | CA16609451 | PKD1 | c.12310_12311del (p.Val4104TyrfsTer?) c.12307_12308del (p.Val4103TyrfsTer?) n.338_339del c.9265_9266del (p.Val3089TyrfsTer?) c.12388_12389del (p.Val4130TyrfsTer?) c.12385_12386del (p.Val4129TyrfsTer?) c.12370_12371del (p.Val4124TyrfsTer?) c.12364_12365del (p.Val4122TyrfsTer?) c.12361_12362del (p.Val4121TyrfsTer?) c.12334_12335del (p.Val4112TyrfsTer?) c.12316_12317del (p.Val4106TyrfsTer?) c.12262_12263del (p.Val4088TyrfsTer?) c.12181_12182del (p.Val4061TyrfsTer?) c.12124_12125del (p.Val4042TyrfsTer?) c.10210_10211del (p.Val3404TyrfsTer?) c.9388_9389del (p.Val3130TyrfsTer?) n.12228_12229del c.12430_12431del (p.Val4144TyrfsTer?) c.12358_12359del (p.Val4120TyrfsTer?) c.12220_12221del (p.Val4074TyrfsTer?) c.10306_10307del (p.Val3436TyrfsTer?) | ClinVar dbSNP |
16 | g.2090419C>A | CA394325541 | PKD1 | c.12310G>T (p.Val4104Phe) c.12307G>T (p.Val4103Phe) n.338G>T c.9265G>T (p.Val3089Phe) c.12388G>T (p.Val4130Phe) c.12385G>T (p.Val4129Phe) c.12370G>T (p.Val4124Phe) c.12364G>T (p.Val4122Phe) c.12361G>T (p.Val4121Phe) c.12334G>T (p.Val4112Phe) c.12316G>T (p.Val4106Phe) c.12262G>T (p.Val4088Phe) c.12181G>T (p.Val4061Phe) c.12124G>T (p.Val4042Phe) c.10210G>T (p.Val3404Phe) c.9388G>T (p.Val3130Phe) n.12228G>T c.12430G>T (p.Val4144Phe) c.12358G>T (p.Val4120Phe) c.12220G>T (p.Val4074Phe) c.10306G>T (p.Val3436Phe) | |
16 | g.2090419C>G | CA394325543 | PKD1 | c.12310G>C (p.Val4104Leu) c.12307G>C (p.Val4103Leu) n.338G>C c.9265G>C (p.Val3089Leu) c.12388G>C (p.Val4130Leu) c.12385G>C (p.Val4129Leu) c.12370G>C (p.Val4124Leu) c.12364G>C (p.Val4122Leu) c.12361G>C (p.Val4121Leu) c.12334G>C (p.Val4112Leu) c.12316G>C (p.Val4106Leu) c.12262G>C (p.Val4088Leu) c.12181G>C (p.Val4061Leu) c.12124G>C (p.Val4042Leu) c.10210G>C (p.Val3404Leu) c.9388G>C (p.Val3130Leu) n.12228G>C c.12430G>C (p.Val4144Leu) c.12358G>C (p.Val4120Leu) c.12220G>C (p.Val4074Leu) c.10306G>C (p.Val3436Leu) | |
16 | g.2090419C>T | CA394325542 | PKD1 | c.12310G>A (p.Val4104Ile) c.12307G>A (p.Val4103Ile) n.338G>A c.9265G>A (p.Val3089Ile) c.12388G>A (p.Val4130Ile) c.12385G>A (p.Val4129Ile) c.12370G>A (p.Val4124Ile) c.12364G>A (p.Val4122Ile) c.12361G>A (p.Val4121Ile) c.12334G>A (p.Val4112Ile) c.12316G>A (p.Val4106Ile) c.12262G>A (p.Val4088Ile) c.12181G>A (p.Val4061Ile) c.12124G>A (p.Val4042Ile) c.10210G>A (p.Val3404Ile) c.9388G>A (p.Val3130Ile) n.12228G>A c.12430G>A (p.Val4144Ile) c.12358G>A (p.Val4120Ile) c.12220G>A (p.Val4074Ile) c.10306G>A (p.Val3436Ile) | |
16 | g.2090420A>C | CA493044386 | PKD1 | c.12309T>G (p.Ala4103=) c.12306T>G (p.Ala4102=) n.337T>G c.9264T>G (p.Ala3088=) c.12387T>G (p.Ala4129=) c.12384T>G (p.Ala4128=) c.12369T>G (p.Ala4123=) c.12363T>G (p.Ala4121=) c.12360T>G (p.Ala4120=) c.12333T>G (p.Ala4111=) c.12315T>G (p.Ala4105=) c.12261T>G (p.Ala4087=) c.12180T>G (p.Ala4060=) c.12123T>G (p.Ala4041=) c.10209T>G (p.Ala3403=) c.9387T>G (p.Ala3129=) n.12227T>G c.12429T>G (p.Ala4143=) c.12357T>G (p.Ala4119=) c.12219T>G (p.Ala4073=) c.10305T>G (p.Ala3435=) | |
16 | g.2090420A>G | CA493044387 | PKD1 | c.12309T>C (p.Ala4103=) c.12306T>C (p.Ala4102=) n.337T>C c.9264T>C (p.Ala3088=) c.12387T>C (p.Ala4129=) c.12384T>C (p.Ala4128=) c.12369T>C (p.Ala4123=) c.12363T>C (p.Ala4121=) c.12360T>C (p.Ala4120=) c.12333T>C (p.Ala4111=) c.12315T>C (p.Ala4105=) c.12261T>C (p.Ala4087=) c.12180T>C (p.Ala4060=) c.12123T>C (p.Ala4041=) c.10209T>C (p.Ala3403=) c.9387T>C (p.Ala3129=) n.12227T>C c.12429T>C (p.Ala4143=) c.12357T>C (p.Ala4119=) c.12219T>C (p.Ala4073=) c.10305T>C (p.Ala3435=) | dbSNP gnomAD v4 |
16 | g.2090420A>T | CA493044388 | PKD1 | c.12309T>A (p.Ala4103=) c.12306T>A (p.Ala4102=) n.337T>A c.9264T>A (p.Ala3088=) c.12387T>A (p.Ala4129=) c.12384T>A (p.Ala4128=) c.12369T>A (p.Ala4123=) c.12363T>A (p.Ala4121=) c.12360T>A (p.Ala4120=) c.12333T>A (p.Ala4111=) c.12315T>A (p.Ala4105=) c.12261T>A (p.Ala4087=) c.12180T>A (p.Ala4060=) c.12123T>A (p.Ala4041=) c.10209T>A (p.Ala3403=) c.9387T>A (p.Ala3129=) n.12227T>A c.12429T>A (p.Ala4143=) c.12357T>A (p.Ala4119=) c.12219T>A (p.Ala4073=) c.10305T>A (p.Ala3435=) | |
16 | g.2090421del | CA2695221525 | PKD1 | c.12308del (p.Ala4103ValfsTer?) c.12305del (p.Ala4102ValfsTer?) n.336del c.9263del (p.Ala3088ValfsTer?) c.12386del (p.Ala4129ValfsTer?) c.12383del (p.Ala4128ValfsTer?) c.12368del (p.Ala4123ValfsTer?) c.12362del (p.Ala4121ValfsTer?) c.12359del (p.Ala4120ValfsTer?) c.12332del (p.Ala4111ValfsTer?) c.12314del (p.Ala4105ValfsTer?) c.12260del (p.Ala4087ValfsTer?) c.12179del (p.Ala4060ValfsTer?) c.12122del (p.Ala4041ValfsTer?) c.10208del (p.Ala3403ValfsTer?) c.9386del (p.Ala3129ValfsTer?) n.12226del c.12428del (p.Ala4143ValfsTer?) c.12356del (p.Ala4119ValfsTer?) c.12218del (p.Ala4073ValfsTer?) c.10304del (p.Ala3435ValfsTer?) | |
16 | g.2090421G>A | CA394325545 | PKD1 | c.12308C>T (p.Ala4103Val) c.12305C>T (p.Ala4102Val) n.336C>T c.9263C>T (p.Ala3088Val) c.12386C>T (p.Ala4129Val) c.12383C>T (p.Ala4128Val) c.12368C>T (p.Ala4123Val) c.12362C>T (p.Ala4121Val) c.12359C>T (p.Ala4120Val) c.12332C>T (p.Ala4111Val) c.12314C>T (p.Ala4105Val) c.12260C>T (p.Ala4087Val) c.12179C>T (p.Ala4060Val) c.12122C>T (p.Ala4041Val) c.10208C>T (p.Ala3403Val) c.9386C>T (p.Ala3129Val) n.12226C>T c.12428C>T (p.Ala4143Val) c.12356C>T (p.Ala4119Val) c.12218C>T (p.Ala4073Val) c.10304C>T (p.Ala3435Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2090421G>C | CA394325550 | PKD1 | c.12308C>G (p.Ala4103Gly) c.12305C>G (p.Ala4102Gly) n.336C>G c.9263C>G (p.Ala3088Gly) c.12386C>G (p.Ala4129Gly) c.12383C>G (p.Ala4128Gly) c.12368C>G (p.Ala4123Gly) c.12362C>G (p.Ala4121Gly) c.12359C>G (p.Ala4120Gly) c.12332C>G (p.Ala4111Gly) c.12314C>G (p.Ala4105Gly) c.12260C>G (p.Ala4087Gly) c.12179C>G (p.Ala4060Gly) c.12122C>G (p.Ala4041Gly) c.10208C>G (p.Ala3403Gly) c.9386C>G (p.Ala3129Gly) n.12226C>G c.12428C>G (p.Ala4143Gly) c.12356C>G (p.Ala4119Gly) c.12218C>G (p.Ala4073Gly) c.10304C>G (p.Ala3435Gly) | |
16 | g.2090421G= | CA2202041722 | PKD1 | c.12308C= (p.Ala4103=) c.12305C= (p.Ala4102=) n.336C= c.9263C= (p.Ala3088=) c.12386C= (p.Ala4129=) c.12383C= (p.Ala4128=) c.12368C= (p.Ala4123=) c.12362C= (p.Ala4121=) c.12359C= (p.Ala4120=) c.12332C= (p.Ala4111=) c.12314C= (p.Ala4105=) c.12260C= (p.Ala4087=) c.12179C= (p.Ala4060=) c.12122C= (p.Ala4041=) c.10208C= (p.Ala3403=) c.9386C= (p.Ala3129=) n.12226C= c.12428C= (p.Ala4143=) c.12356C= (p.Ala4119=) c.12218C= (p.Ala4073=) c.10304C= (p.Ala3435=) | |
16 | g.2090421G>T | CA7828692 | PKD1 | c.12308C>A (p.Ala4103Asp) c.12305C>A (p.Ala4102Asp) n.336C>A c.9263C>A (p.Ala3088Asp) c.12386C>A (p.Ala4129Asp) c.12383C>A (p.Ala4128Asp) c.12368C>A (p.Ala4123Asp) c.12362C>A (p.Ala4121Asp) c.12359C>A (p.Ala4120Asp) c.12332C>A (p.Ala4111Asp) c.12314C>A (p.Ala4105Asp) c.12260C>A (p.Ala4087Asp) c.12179C>A (p.Ala4060Asp) c.12122C>A (p.Ala4041Asp) c.10208C>A (p.Ala3403Asp) c.9386C>A (p.Ala3129Asp) n.12226C>A c.12428C>A (p.Ala4143Asp) c.12356C>A (p.Ala4119Asp) c.12218C>A (p.Ala4073Asp) c.10304C>A (p.Ala3435Asp) | dbSNP ExAC gnomAD v2 |
16 | g.2090421_2090422delinsGC | CA2202041726 | PKD1 | c.12307_12308delinsGC (p.Ala4103=) c.12304_12305delinsGC (p.Ala4102=) n.335_336delinsGC c.9262_9263delinsGC (p.Ala3088=) c.12385_12386delinsGC (p.Ala4129=) c.12382_12383delinsGC (p.Ala4128=) c.12367_12368delinsGC (p.Ala4123=) c.12361_12362delinsGC (p.Ala4121=) c.12358_12359delinsGC (p.Ala4120=) c.12331_12332delinsGC (p.Ala4111=) c.12313_12314delinsGC (p.Ala4105=) c.12259_12260delinsGC (p.Ala4087=) c.12178_12179delinsGC (p.Ala4060=) c.12121_12122delinsGC (p.Ala4041=) c.10207_10208delinsGC (p.Ala3403=) c.9385_9386delinsGC (p.Ala3129=) n.12225_12226delinsGC c.12427_12428delinsGC (p.Ala4143=) c.12355_12356delinsGC (p.Ala4119=) c.12217_12218delinsGC (p.Ala4073=) c.10303_10304delinsGC (p.Ala3435=) | |
16 | g.2090422C>A | CA394325554 | PKD1 | c.12307G>T (p.Ala4103Ser) c.12304G>T (p.Ala4102Ser) n.335G>T c.9262G>T (p.Ala3088Ser) c.12385G>T (p.Ala4129Ser) c.12382G>T (p.Ala4128Ser) c.12367G>T (p.Ala4123Ser) c.12361G>T (p.Ala4121Ser) c.12358G>T (p.Ala4120Ser) c.12331G>T (p.Ala4111Ser) c.12313G>T (p.Ala4105Ser) c.12259G>T (p.Ala4087Ser) c.12178G>T (p.Ala4060Ser) c.12121G>T (p.Ala4041Ser) c.10207G>T (p.Ala3403Ser) c.9385G>T (p.Ala3129Ser) n.12225G>T c.12427G>T (p.Ala4143Ser) c.12355G>T (p.Ala4119Ser) c.12217G>T (p.Ala4073Ser) c.10303G>T (p.Ala3435Ser) | |
16 | g.2090422C= | CA2202041732 | PKD1 | c.12307G= (p.Ala4103=) c.12304G= (p.Ala4102=) n.335G= c.9262G= (p.Ala3088=) c.12385G= (p.Ala4129=) c.12382G= (p.Ala4128=) c.12367G= (p.Ala4123=) c.12361G= (p.Ala4121=) c.12358G= (p.Ala4120=) c.12331G= (p.Ala4111=) c.12313G= (p.Ala4105=) c.12259G= (p.Ala4087=) c.12178G= (p.Ala4060=) c.12121G= (p.Ala4041=) c.10207G= (p.Ala3403=) c.9385G= (p.Ala3129=) n.12225G= c.12427G= (p.Ala4143=) c.12355G= (p.Ala4119=) c.12217G= (p.Ala4073=) c.10303G= (p.Ala3435=) | |
16 | g.2090422C>G | CA394325555 | PKD1 | c.12307G>C (p.Ala4103Pro) c.12304G>C (p.Ala4102Pro) n.335G>C c.9262G>C (p.Ala3088Pro) c.12385G>C (p.Ala4129Pro) c.12382G>C (p.Ala4128Pro) c.12367G>C (p.Ala4123Pro) c.12361G>C (p.Ala4121Pro) c.12358G>C (p.Ala4120Pro) c.12331G>C (p.Ala4111Pro) c.12313G>C (p.Ala4105Pro) c.12259G>C (p.Ala4087Pro) c.12178G>C (p.Ala4060Pro) c.12121G>C (p.Ala4041Pro) c.10207G>C (p.Ala3403Pro) c.9385G>C (p.Ala3129Pro) n.12225G>C c.12427G>C (p.Ala4143Pro) c.12355G>C (p.Ala4119Pro) c.12217G>C (p.Ala4073Pro) c.10303G>C (p.Ala3435Pro) | gnomAD v4 |
16 | g.2090422C>T | CA276764098 | PKD1 | c.12307G>A (p.Ala4103Thr) c.12304G>A (p.Ala4102Thr) n.335G>A c.9262G>A (p.Ala3088Thr) c.12385G>A (p.Ala4129Thr) c.12382G>A (p.Ala4128Thr) c.12367G>A (p.Ala4123Thr) c.12361G>A (p.Ala4121Thr) c.12358G>A (p.Ala4120Thr) c.12331G>A (p.Ala4111Thr) c.12313G>A (p.Ala4105Thr) c.12259G>A (p.Ala4087Thr) c.12178G>A (p.Ala4060Thr) c.12121G>A (p.Ala4041Thr) c.10207G>A (p.Ala3403Thr) c.9385G>A (p.Ala3129Thr) n.12225G>A c.12427G>A (p.Ala4143Thr) c.12355G>A (p.Ala4119Thr) c.12217G>A (p.Ala4073Thr) c.10303G>A (p.Ala3435Thr) | dbSNP gnomAD v4 |
16 | g.2090426dup | CA2695221530 | PKD1 | c.12307dup (p.Ala4103GlyfsTer?) c.12304dup (p.Ala4102GlyfsTer?) n.335dup c.9262dup (p.Ala3088GlyfsTer?) c.12385dup (p.Ala4129GlyfsTer?) c.12382dup (p.Ala4128GlyfsTer?) c.12367dup (p.Ala4123GlyfsTer?) c.12361dup (p.Ala4121GlyfsTer?) c.12358dup (p.Ala4120GlyfsTer?) c.12331dup (p.Ala4111GlyfsTer?) c.12313dup (p.Ala4105GlyfsTer?) c.12259dup (p.Ala4087GlyfsTer?) c.12178dup (p.Ala4060GlyfsTer?) c.12121dup (p.Ala4041GlyfsTer?) c.10207dup (p.Ala3403GlyfsTer?) c.9385dup (p.Ala3129GlyfsTer?) n.12225dup c.12427dup (p.Ala4143GlyfsTer?) c.12355dup (p.Ala4119GlyfsTer?) c.12217dup (p.Ala4073GlyfsTer?) c.10303dup (p.Ala3435GlyfsTer?) | |
16 | g.2090426del | CA1139664264 | PKD1 | c.12307del (p.Ala4103LeufsTer?) c.12304del (p.Ala4102LeufsTer?) n.335del c.9262del (p.Ala3088LeufsTer?) c.12385del (p.Ala4129LeufsTer?) c.12382del (p.Ala4128LeufsTer?) c.12367del (p.Ala4123LeufsTer?) c.12361del (p.Ala4121LeufsTer?) c.12358del (p.Ala4120LeufsTer?) c.12331del (p.Ala4111LeufsTer?) c.12313del (p.Ala4105LeufsTer?) c.12259del (p.Ala4087LeufsTer?) c.12178del (p.Ala4060LeufsTer?) c.12121del (p.Ala4041LeufsTer?) c.10207del (p.Ala3403LeufsTer?) c.9385del (p.Ala3129LeufsTer?) n.12225del c.12427del (p.Ala4143LeufsTer?) c.12355del (p.Ala4119LeufsTer?) c.12217del (p.Ala4073LeufsTer?) c.10303del (p.Ala3435LeufsTer?) | ClinVar dbSNP |
16 | g.2090425_2090442dup | CA620705250 | PKD1 | c.12290_12307dup (p.Gly4102_Ala4103insGlyAlaLeuArgLeuGly) c.12287_12304dup (p.Gly4101_Ala4102insGlyAlaLeuArgLeuGly) n.318_335dup c.9245_9262dup (p.Gly3087_Ala3088insGlyAlaLeuArgLeuGly) c.12368_12385dup (p.Gly4128_Ala4129insGlyAlaLeuArgLeuGly) c.12365_12382dup (p.Gly4127_Ala4128insGlyAlaLeuArgLeuGly) c.12350_12367dup (p.Gly4122_Ala4123insGlyAlaLeuArgLeuGly) c.12344_12361dup (p.Gly4120_Ala4121insGlyAlaLeuArgLeuGly) c.12341_12358dup (p.Gly4119_Ala4120insGlyAlaLeuArgLeuGly) c.12314_12331dup (p.Gly4110_Ala4111insGlyAlaLeuArgLeuGly) c.12296_12313dup (p.Gly4104_Ala4105insGlyAlaLeuArgLeuGly) c.12242_12259dup (p.Gly4086_Ala4087insGlyAlaLeuArgLeuGly) c.12161_12178dup (p.Gly4059_Ala4060insGlyAlaLeuArgLeuGly) c.12104_12121dup (p.Gly4040_Ala4041insGlyAlaLeuArgLeuGly) c.10190_10207dup (p.Gly3402_Ala3403insGlyAlaLeuArgLeuGly) c.9368_9385dup (p.Gly3128_Ala3129insGlyAlaLeuArgLeuGly) n.12208_12225dup c.12410_12427dup (p.Gly4142_Ala4143insGlyAlaLeuArgLeuGly) c.12338_12355dup (p.Gly4118_Ala4119insGlyAlaLeuArgLeuGly) c.12200_12217dup (p.Gly4072_Ala4073insGlyAlaLeuArgLeuGly) c.10286_10303dup (p.Gly3434_Ala3435insGlyAlaLeuArgLeuGly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090423C>A | CA493044391 | PKD1 | c.12306G>T (p.Gly4102=) c.12303G>T (p.Gly4101=) n.334G>T c.9261G>T (p.Gly3087=) c.12384G>T (p.Gly4128=) c.12381G>T (p.Gly4127=) c.12366G>T (p.Gly4122=) c.12360G>T (p.Gly4120=) c.12357G>T (p.Gly4119=) c.12330G>T (p.Gly4110=) c.12312G>T (p.Gly4104=) c.12258G>T (p.Gly4086=) c.12177G>T (p.Gly4059=) c.12120G>T (p.Gly4040=) c.10206G>T (p.Gly3402=) c.9384G>T (p.Gly3128=) n.12224G>T c.12426G>T (p.Gly4142=) c.12354G>T (p.Gly4118=) c.12216G>T (p.Gly4072=) c.10302G>T (p.Gly3434=) | |
16 | g.2090423C>G | CA493044392 | PKD1 | c.12306G>C (p.Gly4102=) c.12303G>C (p.Gly4101=) n.334G>C c.9261G>C (p.Gly3087=) c.12384G>C (p.Gly4128=) c.12381G>C (p.Gly4127=) c.12366G>C (p.Gly4122=) c.12360G>C (p.Gly4120=) c.12357G>C (p.Gly4119=) c.12330G>C (p.Gly4110=) c.12312G>C (p.Gly4104=) c.12258G>C (p.Gly4086=) c.12177G>C (p.Gly4059=) c.12120G>C (p.Gly4040=) c.10206G>C (p.Gly3402=) c.9384G>C (p.Gly3128=) n.12224G>C c.12426G>C (p.Gly4142=) c.12354G>C (p.Gly4118=) c.12216G>C (p.Gly4072=) c.10302G>C (p.Gly3434=) | |
16 | g.2090423C>T | CA493044395 | PKD1 | c.12306G>A (p.Gly4102=) c.12303G>A (p.Gly4101=) n.334G>A c.9261G>A (p.Gly3087=) c.12384G>A (p.Gly4128=) c.12381G>A (p.Gly4127=) c.12366G>A (p.Gly4122=) c.12360G>A (p.Gly4120=) c.12357G>A (p.Gly4119=) c.12330G>A (p.Gly4110=) c.12312G>A (p.Gly4104=) c.12258G>A (p.Gly4086=) c.12177G>A (p.Gly4059=) c.12120G>A (p.Gly4040=) c.10206G>A (p.Gly3402=) c.9384G>A (p.Gly3128=) n.12224G>A c.12426G>A (p.Gly4142=) c.12354G>A (p.Gly4118=) c.12216G>A (p.Gly4072=) c.10302G>A (p.Gly3434=) | |
16 | g.2090424C>A | CA394325563 | PKD1 | c.12305G>T (p.Gly4102Val) c.12302G>T (p.Gly4101Val) n.333G>T c.9260G>T (p.Gly3087Val) c.12383G>T (p.Gly4128Val) c.12380G>T (p.Gly4127Val) c.12365G>T (p.Gly4122Val) c.12359G>T (p.Gly4120Val) c.12356G>T (p.Gly4119Val) c.12329G>T (p.Gly4110Val) c.12311G>T (p.Gly4104Val) c.12257G>T (p.Gly4086Val) c.12176G>T (p.Gly4059Val) c.12119G>T (p.Gly4040Val) c.10205G>T (p.Gly3402Val) c.9383G>T (p.Gly3128Val) n.12223G>T c.12425G>T (p.Gly4142Val) c.12353G>T (p.Gly4118Val) c.12215G>T (p.Gly4072Val) c.10301G>T (p.Gly3434Val) | |
16 | g.2090424C= | CA2202041735 | PKD1 | c.12305G= (p.Gly4102=) c.12302G= (p.Gly4101=) n.333G= c.9260G= (p.Gly3087=) c.12383G= (p.Gly4128=) c.12380G= (p.Gly4127=) c.12365G= (p.Gly4122=) c.12359G= (p.Gly4120=) c.12356G= (p.Gly4119=) c.12329G= (p.Gly4110=) c.12311G= (p.Gly4104=) c.12257G= (p.Gly4086=) c.12176G= (p.Gly4059=) c.12119G= (p.Gly4040=) c.10205G= (p.Gly3402=) c.9383G= (p.Gly3128=) n.12223G= c.12425G= (p.Gly4142=) c.12353G= (p.Gly4118=) c.12215G= (p.Gly4072=) c.10301G= (p.Gly3434=) | |
16 | g.2090424C>G | CA394325581 | PKD1 | c.12305G>C (p.Gly4102Ala) c.12302G>C (p.Gly4101Ala) n.333G>C c.9260G>C (p.Gly3087Ala) c.12383G>C (p.Gly4128Ala) c.12380G>C (p.Gly4127Ala) c.12365G>C (p.Gly4122Ala) c.12359G>C (p.Gly4120Ala) c.12356G>C (p.Gly4119Ala) c.12329G>C (p.Gly4110Ala) c.12311G>C (p.Gly4104Ala) c.12257G>C (p.Gly4086Ala) c.12176G>C (p.Gly4059Ala) c.12119G>C (p.Gly4040Ala) c.10205G>C (p.Gly3402Ala) c.9383G>C (p.Gly3128Ala) n.12223G>C c.12425G>C (p.Gly4142Ala) c.12353G>C (p.Gly4118Ala) c.12215G>C (p.Gly4072Ala) c.10301G>C (p.Gly3434Ala) | |
16 | g.2090424C>T | CA394325592 | PKD1 | c.12305G>A (p.Gly4102Glu) c.12302G>A (p.Gly4101Glu) n.333G>A c.9260G>A (p.Gly3087Glu) c.12383G>A (p.Gly4128Glu) c.12380G>A (p.Gly4127Glu) c.12365G>A (p.Gly4122Glu) c.12359G>A (p.Gly4120Glu) c.12356G>A (p.Gly4119Glu) c.12329G>A (p.Gly4110Glu) c.12311G>A (p.Gly4104Glu) c.12257G>A (p.Gly4086Glu) c.12176G>A (p.Gly4059Glu) c.12119G>A (p.Gly4040Glu) c.10205G>A (p.Gly3402Glu) c.9383G>A (p.Gly3128Glu) n.12223G>A c.12425G>A (p.Gly4142Glu) c.12353G>A (p.Gly4118Glu) c.12215G>A (p.Gly4072Glu) c.10301G>A (p.Gly3434Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090425C>A | CA394325598 | PKD1 | c.12304G>T (p.Gly4102Trp) c.12301G>T (p.Gly4101Trp) n.332G>T c.9259G>T (p.Gly3087Trp) c.12382G>T (p.Gly4128Trp) c.12379G>T (p.Gly4127Trp) c.12364G>T (p.Gly4122Trp) c.12358G>T (p.Gly4120Trp) c.12355G>T (p.Gly4119Trp) c.12328G>T (p.Gly4110Trp) c.12310G>T (p.Gly4104Trp) c.12256G>T (p.Gly4086Trp) c.12175G>T (p.Gly4059Trp) c.12118G>T (p.Gly4040Trp) c.10204G>T (p.Gly3402Trp) c.9382G>T (p.Gly3128Trp) n.12222G>T c.12424G>T (p.Gly4142Trp) c.12352G>T (p.Gly4118Trp) c.12214G>T (p.Gly4072Trp) c.10300G>T (p.Gly3434Trp) | |
16 | g.2090425C>G | CA394325599 | PKD1 | c.12304G>C (p.Gly4102Arg) c.12301G>C (p.Gly4101Arg) n.332G>C c.9259G>C (p.Gly3087Arg) c.12382G>C (p.Gly4128Arg) c.12379G>C (p.Gly4127Arg) c.12364G>C (p.Gly4122Arg) c.12358G>C (p.Gly4120Arg) c.12355G>C (p.Gly4119Arg) c.12328G>C (p.Gly4110Arg) c.12310G>C (p.Gly4104Arg) c.12256G>C (p.Gly4086Arg) c.12175G>C (p.Gly4059Arg) c.12118G>C (p.Gly4040Arg) c.10204G>C (p.Gly3402Arg) c.9382G>C (p.Gly3128Arg) n.12222G>C c.12424G>C (p.Gly4142Arg) c.12352G>C (p.Gly4118Arg) c.12214G>C (p.Gly4072Arg) c.10300G>C (p.Gly3434Arg) | gnomAD v4 |
16 | g.2090425C>T | CA394325600 | PKD1 | c.12304G>A (p.Gly4102Arg) c.12301G>A (p.Gly4101Arg) n.332G>A c.9259G>A (p.Gly3087Arg) c.12382G>A (p.Gly4128Arg) c.12379G>A (p.Gly4127Arg) c.12364G>A (p.Gly4122Arg) c.12358G>A (p.Gly4120Arg) c.12355G>A (p.Gly4119Arg) c.12328G>A (p.Gly4110Arg) c.12310G>A (p.Gly4104Arg) c.12256G>A (p.Gly4086Arg) c.12175G>A (p.Gly4059Arg) c.12118G>A (p.Gly4040Arg) c.10204G>A (p.Gly3402Arg) c.9382G>A (p.Gly3128Arg) n.12222G>A c.12424G>A (p.Gly4142Arg) c.12352G>A (p.Gly4118Arg) c.12214G>A (p.Gly4072Arg) c.10300G>A (p.Gly3434Arg) | gnomAD v4 |
16 | g.2090426C>A | CA7828693 | PKD1 | c.12303G>T (p.Leu4101=) c.12300G>T (p.Leu4100=) n.331G>T c.9258G>T (p.Leu3086=) c.12381G>T (p.Leu4127=) c.12378G>T (p.Leu4126=) c.12363G>T (p.Leu4121=) c.12357G>T (p.Leu4119=) c.12354G>T (p.Leu4118=) c.12327G>T (p.Leu4109=) c.12309G>T (p.Leu4103=) c.12255G>T (p.Leu4085=) c.12174G>T (p.Leu4058=) c.12117G>T (p.Leu4039=) c.10203G>T (p.Leu3401=) c.9381G>T (p.Leu3127=) n.12221G>T c.12423G>T (p.Leu4141=) c.12351G>T (p.Leu4117=) c.12213G>T (p.Leu4071=) c.10299G>T (p.Leu3433=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090426C= | CA2202041737 | PKD1 | c.12303G= (p.Leu4101=) c.12300G= (p.Leu4100=) n.331G= c.9258G= (p.Leu3086=) c.12381G= (p.Leu4127=) c.12378G= (p.Leu4126=) c.12363G= (p.Leu4121=) c.12357G= (p.Leu4119=) c.12354G= (p.Leu4118=) c.12327G= (p.Leu4109=) c.12309G= (p.Leu4103=) c.12255G= (p.Leu4085=) c.12174G= (p.Leu4058=) c.12117G= (p.Leu4039=) c.10203G= (p.Leu3401=) c.9381G= (p.Leu3127=) n.12221G= c.12423G= (p.Leu4141=) c.12351G= (p.Leu4117=) c.12213G= (p.Leu4071=) c.10299G= (p.Leu3433=) | |
16 | g.2090426C>G | CA493044402 | PKD1 | c.12303G>C (p.Leu4101=) c.12300G>C (p.Leu4100=) n.331G>C c.9258G>C (p.Leu3086=) c.12381G>C (p.Leu4127=) c.12378G>C (p.Leu4126=) c.12363G>C (p.Leu4121=) c.12357G>C (p.Leu4119=) c.12354G>C (p.Leu4118=) c.12327G>C (p.Leu4109=) c.12309G>C (p.Leu4103=) c.12255G>C (p.Leu4085=) c.12174G>C (p.Leu4058=) c.12117G>C (p.Leu4039=) c.10203G>C (p.Leu3401=) c.9381G>C (p.Leu3127=) n.12221G>C c.12423G>C (p.Leu4141=) c.12351G>C (p.Leu4117=) c.12213G>C (p.Leu4071=) c.10299G>C (p.Leu3433=) | |
16 | g.2090426C>T | CA493044401 | PKD1 | c.12303G>A (p.Leu4101=) c.12300G>A (p.Leu4100=) n.331G>A c.9258G>A (p.Leu3086=) c.12381G>A (p.Leu4127=) c.12378G>A (p.Leu4126=) c.12363G>A (p.Leu4121=) c.12357G>A (p.Leu4119=) c.12354G>A (p.Leu4118=) c.12327G>A (p.Leu4109=) c.12309G>A (p.Leu4103=) c.12255G>A (p.Leu4085=) c.12174G>A (p.Leu4058=) c.12117G>A (p.Leu4039=) c.10203G>A (p.Leu3401=) c.9381G>A (p.Leu3127=) n.12221G>A c.12423G>A (p.Leu4141=) c.12351G>A (p.Leu4117=) c.12213G>A (p.Leu4071=) c.10299G>A (p.Leu3433=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090427A>C | CA394325604 | PKD1 | c.12302T>G (p.Leu4101Arg) c.12299T>G (p.Leu4100Arg) n.330T>G c.9257T>G (p.Leu3086Arg) c.12380T>G (p.Leu4127Arg) c.12377T>G (p.Leu4126Arg) c.12362T>G (p.Leu4121Arg) c.12356T>G (p.Leu4119Arg) c.12353T>G (p.Leu4118Arg) c.12326T>G (p.Leu4109Arg) c.12308T>G (p.Leu4103Arg) c.12254T>G (p.Leu4085Arg) c.12173T>G (p.Leu4058Arg) c.12116T>G (p.Leu4039Arg) c.10202T>G (p.Leu3401Arg) c.9380T>G (p.Leu3127Arg) n.12220T>G c.12422T>G (p.Leu4141Arg) c.12350T>G (p.Leu4117Arg) c.12212T>G (p.Leu4071Arg) c.10298T>G (p.Leu3433Arg) | |
16 | g.2090427A>G | CA394325608 | PKD1 | c.12302T>C (p.Leu4101Pro) c.12299T>C (p.Leu4100Pro) n.330T>C c.9257T>C (p.Leu3086Pro) c.12380T>C (p.Leu4127Pro) c.12377T>C (p.Leu4126Pro) c.12362T>C (p.Leu4121Pro) c.12356T>C (p.Leu4119Pro) c.12353T>C (p.Leu4118Pro) c.12326T>C (p.Leu4109Pro) c.12308T>C (p.Leu4103Pro) c.12254T>C (p.Leu4085Pro) c.12173T>C (p.Leu4058Pro) c.12116T>C (p.Leu4039Pro) c.10202T>C (p.Leu3401Pro) c.9380T>C (p.Leu3127Pro) n.12220T>C c.12422T>C (p.Leu4141Pro) c.12350T>C (p.Leu4117Pro) c.12212T>C (p.Leu4071Pro) c.10298T>C (p.Leu3433Pro) | gnomAD v4 |
16 | g.2090427A>T | CA394325607 | PKD1 | c.12302T>A (p.Leu4101Gln) c.12299T>A (p.Leu4100Gln) n.330T>A c.9257T>A (p.Leu3086Gln) c.12380T>A (p.Leu4127Gln) c.12377T>A (p.Leu4126Gln) c.12362T>A (p.Leu4121Gln) c.12356T>A (p.Leu4119Gln) c.12353T>A (p.Leu4118Gln) c.12326T>A (p.Leu4109Gln) c.12308T>A (p.Leu4103Gln) c.12254T>A (p.Leu4085Gln) c.12173T>A (p.Leu4058Gln) c.12116T>A (p.Leu4039Gln) c.10202T>A (p.Leu3401Gln) c.9380T>A (p.Leu3127Gln) n.12220T>A c.12422T>A (p.Leu4141Gln) c.12350T>A (p.Leu4117Gln) c.12212T>A (p.Leu4071Gln) c.10298T>A (p.Leu3433Gln) | |
16 | g.2090428del | CA2695221533 | PKD1 | c.12301del (p.Leu4101TrpfsTer?) c.12298del (p.Leu4100TrpfsTer?) n.329del c.9256del (p.Leu3086TrpfsTer?) c.12379del (p.Leu4127TrpfsTer?) c.12376del (p.Leu4126TrpfsTer?) c.12361del (p.Leu4121TrpfsTer?) c.12355del (p.Leu4119TrpfsTer?) c.12352del (p.Leu4118TrpfsTer?) c.12325del (p.Leu4109TrpfsTer?) c.12307del (p.Leu4103TrpfsTer?) c.12253del (p.Leu4085TrpfsTer?) c.12172del (p.Leu4058TrpfsTer?) c.12115del (p.Leu4039TrpfsTer?) c.10201del (p.Leu3401TrpfsTer?) c.9379del (p.Leu3127TrpfsTer?) n.12219del c.12421del (p.Leu4141TrpfsTer?) c.12349del (p.Leu4117TrpfsTer?) c.12211del (p.Leu4071TrpfsTer?) c.10297del (p.Leu3433TrpfsTer?) | |
16 | g.2090428G>A | CA7828694 | PKD1 | c.12301C>T (p.Leu4101=) c.12298C>T (p.Leu4100=) n.329C>T c.9256C>T (p.Leu3086=) c.12379C>T (p.Leu4127=) c.12376C>T (p.Leu4126=) c.12361C>T (p.Leu4121=) c.12355C>T (p.Leu4119=) c.12352C>T (p.Leu4118=) c.12325C>T (p.Leu4109=) c.12307C>T (p.Leu4103=) c.12253C>T (p.Leu4085=) c.12172C>T (p.Leu4058=) c.12115C>T (p.Leu4039=) c.10201C>T (p.Leu3401=) c.9379C>T (p.Leu3127=) n.12219C>T c.12421C>T (p.Leu4141=) c.12349C>T (p.Leu4117=) c.12211C>T (p.Leu4071=) c.10297C>T (p.Leu3433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090428G>C | CA276764103 | PKD1 | c.12301C>G (p.Leu4101Val) c.12298C>G (p.Leu4100Val) n.329C>G c.9256C>G (p.Leu3086Val) c.12379C>G (p.Leu4127Val) c.12376C>G (p.Leu4126Val) c.12361C>G (p.Leu4121Val) c.12355C>G (p.Leu4119Val) c.12352C>G (p.Leu4118Val) c.12325C>G (p.Leu4109Val) c.12307C>G (p.Leu4103Val) c.12253C>G (p.Leu4085Val) c.12172C>G (p.Leu4058Val) c.12115C>G (p.Leu4039Val) c.10201C>G (p.Leu3401Val) c.9379C>G (p.Leu3127Val) n.12219C>G c.12421C>G (p.Leu4141Val) c.12349C>G (p.Leu4117Val) c.12211C>G (p.Leu4071Val) c.10297C>G (p.Leu3433Val) | dbSNP |
16 | g.2090428G= | CA2202041744 | PKD1 | c.12301C= (p.Leu4101=) c.12298C= (p.Leu4100=) n.329C= c.9256C= (p.Leu3086=) c.12379C= (p.Leu4127=) c.12376C= (p.Leu4126=) c.12361C= (p.Leu4121=) c.12355C= (p.Leu4119=) c.12352C= (p.Leu4118=) c.12325C= (p.Leu4109=) c.12307C= (p.Leu4103=) c.12253C= (p.Leu4085=) c.12172C= (p.Leu4058=) c.12115C= (p.Leu4039=) c.10201C= (p.Leu3401=) c.9379C= (p.Leu3127=) n.12219C= c.12421C= (p.Leu4141=) c.12349C= (p.Leu4117=) c.12211C= (p.Leu4071=) c.10297C= (p.Leu3433=) | |
16 | g.2090428G>T | CA394325617 | PKD1 | c.12301C>A (p.Leu4101Met) c.12298C>A (p.Leu4100Met) n.329C>A c.9256C>A (p.Leu3086Met) c.12379C>A (p.Leu4127Met) c.12376C>A (p.Leu4126Met) c.12361C>A (p.Leu4121Met) c.12355C>A (p.Leu4119Met) c.12352C>A (p.Leu4118Met) c.12325C>A (p.Leu4109Met) c.12307C>A (p.Leu4103Met) c.12253C>A (p.Leu4085Met) c.12172C>A (p.Leu4058Met) c.12115C>A (p.Leu4039Met) c.10201C>A (p.Leu3401Met) c.9379C>A (p.Leu3127Met) n.12219C>A c.12421C>A (p.Leu4141Met) c.12349C>A (p.Leu4117Met) c.12211C>A (p.Leu4071Met) c.10297C>A (p.Leu3433Met) | |
16 | g.2090429C>A | CA493044417 | PKD1 | c.12300G>T (p.Arg4100=) c.12297G>T (p.Arg4099=) n.328G>T c.9255G>T (p.Arg3085=) c.12378G>T (p.Arg4126=) c.12375G>T (p.Arg4125=) c.12360G>T (p.Arg4120=) c.12354G>T (p.Arg4118=) c.12351G>T (p.Arg4117=) c.12324G>T (p.Arg4108=) c.12306G>T (p.Arg4102=) c.12252G>T (p.Arg4084=) c.12171G>T (p.Arg4057=) c.12114G>T (p.Arg4038=) c.10200G>T (p.Arg3400=) c.9378G>T (p.Arg3126=) n.12218G>T c.12420G>T (p.Arg4140=) c.12348G>T (p.Arg4116=) c.12210G>T (p.Arg4070=) c.10296G>T (p.Arg3432=) | |
16 | g.2090429C>G | CA493044415 | PKD1 | c.12300G>C (p.Arg4100=) c.12297G>C (p.Arg4099=) n.328G>C c.9255G>C (p.Arg3085=) c.12378G>C (p.Arg4126=) c.12375G>C (p.Arg4125=) c.12360G>C (p.Arg4120=) c.12354G>C (p.Arg4118=) c.12351G>C (p.Arg4117=) c.12324G>C (p.Arg4108=) c.12306G>C (p.Arg4102=) c.12252G>C (p.Arg4084=) c.12171G>C (p.Arg4057=) c.12114G>C (p.Arg4038=) c.10200G>C (p.Arg3400=) c.9378G>C (p.Arg3126=) n.12218G>C c.12420G>C (p.Arg4140=) c.12348G>C (p.Arg4116=) c.12210G>C (p.Arg4070=) c.10296G>C (p.Arg3432=) | |
16 | g.2090429C>T | CA493044414 | PKD1 | c.12300G>A (p.Arg4100=) c.12297G>A (p.Arg4099=) n.328G>A c.9255G>A (p.Arg3085=) c.12378G>A (p.Arg4126=) c.12375G>A (p.Arg4125=) c.12360G>A (p.Arg4120=) c.12354G>A (p.Arg4118=) c.12351G>A (p.Arg4117=) c.12324G>A (p.Arg4108=) c.12306G>A (p.Arg4102=) c.12252G>A (p.Arg4084=) c.12171G>A (p.Arg4057=) c.12114G>A (p.Arg4038=) c.10200G>A (p.Arg3400=) c.9378G>A (p.Arg3126=) n.12218G>A c.12420G>A (p.Arg4140=) c.12348G>A (p.Arg4116=) c.12210G>A (p.Arg4070=) c.10296G>A (p.Arg3432=) | gnomAD v4 |
16 | g.2090430C>A | CA394325622 | PKD1 | c.12299G>T (p.Arg4100Leu) c.12296G>T (p.Arg4099Leu) n.327G>T c.9254G>T (p.Arg3085Leu) c.12377G>T (p.Arg4126Leu) c.12374G>T (p.Arg4125Leu) c.12359G>T (p.Arg4120Leu) c.12353G>T (p.Arg4118Leu) c.12350G>T (p.Arg4117Leu) c.12323G>T (p.Arg4108Leu) c.12305G>T (p.Arg4102Leu) c.12251G>T (p.Arg4084Leu) c.12170G>T (p.Arg4057Leu) c.12113G>T (p.Arg4038Leu) c.10199G>T (p.Arg3400Leu) c.9377G>T (p.Arg3126Leu) n.12217G>T c.12419G>T (p.Arg4140Leu) c.12347G>T (p.Arg4116Leu) c.12209G>T (p.Arg4070Leu) c.10295G>T (p.Arg3432Leu) | |
16 | g.2090430C>G | CA394325625 | PKD1 | c.12299G>C (p.Arg4100Pro) c.12296G>C (p.Arg4099Pro) n.327G>C c.9254G>C (p.Arg3085Pro) c.12377G>C (p.Arg4126Pro) c.12374G>C (p.Arg4125Pro) c.12359G>C (p.Arg4120Pro) c.12353G>C (p.Arg4118Pro) c.12350G>C (p.Arg4117Pro) c.12323G>C (p.Arg4108Pro) c.12305G>C (p.Arg4102Pro) c.12251G>C (p.Arg4084Pro) c.12170G>C (p.Arg4057Pro) c.12113G>C (p.Arg4038Pro) c.10199G>C (p.Arg3400Pro) c.9377G>C (p.Arg3126Pro) n.12217G>C c.12419G>C (p.Arg4140Pro) c.12347G>C (p.Arg4116Pro) c.12209G>C (p.Arg4070Pro) c.10295G>C (p.Arg3432Pro) | |
16 | g.2090430C>T | CA394325629 | PKD1 | c.12299G>A (p.Arg4100Gln) c.12296G>A (p.Arg4099Gln) n.327G>A c.9254G>A (p.Arg3085Gln) c.12377G>A (p.Arg4126Gln) c.12374G>A (p.Arg4125Gln) c.12359G>A (p.Arg4120Gln) c.12353G>A (p.Arg4118Gln) c.12350G>A (p.Arg4117Gln) c.12323G>A (p.Arg4108Gln) c.12305G>A (p.Arg4102Gln) c.12251G>A (p.Arg4084Gln) c.12170G>A (p.Arg4057Gln) c.12113G>A (p.Arg4038Gln) c.10199G>A (p.Arg3400Gln) c.9377G>A (p.Arg3126Gln) n.12217G>A c.12419G>A (p.Arg4140Gln) c.12347G>A (p.Arg4116Gln) c.12209G>A (p.Arg4070Gln) c.10295G>A (p.Arg3432Gln) | gnomAD v4 |
16 | g.2090430_2090431insTAC | CA2695221535 | PKD1 | c.12299_12300insTAG (p.Arg4100_Leu4101insArg) c.12296_12297insTAG (p.Arg4099_Leu4100insArg) n.327_328insTAG c.9254_9255insTAG (p.Arg3085_Leu3086insArg) c.12377_12378insTAG (p.Arg4126_Leu4127insArg) c.12374_12375insTAG (p.Arg4125_Leu4126insArg) c.12359_12360insTAG (p.Arg4120_Leu4121insArg) c.12353_12354insTAG (p.Arg4118_Leu4119insArg) c.12350_12351insTAG (p.Arg4117_Leu4118insArg) c.12323_12324insTAG (p.Arg4108_Leu4109insArg) c.12305_12306insTAG (p.Arg4102_Leu4103insArg) c.12251_12252insTAG (p.Arg4084_Leu4085insArg) c.12170_12171insTAG (p.Arg4057_Leu4058insArg) c.12113_12114insTAG (p.Arg4038_Leu4039insArg) c.10199_10200insTAG (p.Arg3400_Leu3401insArg) c.9377_9378insTAG (p.Arg3126_Leu3127insArg) n.12217_12218insTAG c.12419_12420insTAG (p.Arg4140_Leu4141insArg) c.12347_12348insTAG (p.Arg4116_Leu4117insArg) c.12209_12210insTAG (p.Arg4070_Leu4071insArg) c.10295_10296insTAG (p.Arg3432_Leu3433insArg) | |
16 | g.2090431G>A | CA7828695 | PKD1 | c.12298C>T (p.Arg4100Trp) c.12295C>T (p.Arg4099Trp) n.326C>T c.9253C>T (p.Arg3085Trp) c.12376C>T (p.Arg4126Trp) c.12373C>T (p.Arg4125Trp) c.12358C>T (p.Arg4120Trp) c.12352C>T (p.Arg4118Trp) c.12349C>T (p.Arg4117Trp) c.12322C>T (p.Arg4108Trp) c.12304C>T (p.Arg4102Trp) c.12250C>T (p.Arg4084Trp) c.12169C>T (p.Arg4057Trp) c.12112C>T (p.Arg4038Trp) c.10198C>T (p.Arg3400Trp) c.9376C>T (p.Arg3126Trp) n.12216C>T c.12418C>T (p.Arg4140Trp) c.12346C>T (p.Arg4116Trp) c.12208C>T (p.Arg4070Trp) c.10294C>T (p.Arg3432Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090431G>C | CA394325634 | PKD1 | c.12298C>G (p.Arg4100Gly) c.12295C>G (p.Arg4099Gly) n.326C>G c.9253C>G (p.Arg3085Gly) c.12376C>G (p.Arg4126Gly) c.12373C>G (p.Arg4125Gly) c.12358C>G (p.Arg4120Gly) c.12352C>G (p.Arg4118Gly) c.12349C>G (p.Arg4117Gly) c.12322C>G (p.Arg4108Gly) c.12304C>G (p.Arg4102Gly) c.12250C>G (p.Arg4084Gly) c.12169C>G (p.Arg4057Gly) c.12112C>G (p.Arg4038Gly) c.10198C>G (p.Arg3400Gly) c.9376C>G (p.Arg3126Gly) n.12216C>G c.12418C>G (p.Arg4140Gly) c.12346C>G (p.Arg4116Gly) c.12208C>G (p.Arg4070Gly) c.10294C>G (p.Arg3432Gly) | |
16 | g.2090431G= | CA2202041747 | PKD1 | c.12298C= (p.Arg4100=) c.12295C= (p.Arg4099=) n.326C= c.9253C= (p.Arg3085=) c.12376C= (p.Arg4126=) c.12373C= (p.Arg4125=) c.12358C= (p.Arg4120=) c.12352C= (p.Arg4118=) c.12349C= (p.Arg4117=) c.12322C= (p.Arg4108=) c.12304C= (p.Arg4102=) c.12250C= (p.Arg4084=) c.12169C= (p.Arg4057=) c.12112C= (p.Arg4038=) c.10198C= (p.Arg3400=) c.9376C= (p.Arg3126=) n.12216C= c.12418C= (p.Arg4140=) c.12346C= (p.Arg4116=) c.12208C= (p.Arg4070=) c.10294C= (p.Arg3432=) | |
16 | g.2090431G>T | CA493044421 | PKD1 | c.12298C>A (p.Arg4100=) c.12295C>A (p.Arg4099=) n.326C>A c.9253C>A (p.Arg3085=) c.12376C>A (p.Arg4126=) c.12373C>A (p.Arg4125=) c.12358C>A (p.Arg4120=) c.12352C>A (p.Arg4118=) c.12349C>A (p.Arg4117=) c.12322C>A (p.Arg4108=) c.12304C>A (p.Arg4102=) c.12250C>A (p.Arg4084=) c.12169C>A (p.Arg4057=) c.12112C>A (p.Arg4038=) c.10198C>A (p.Arg3400=) c.9376C>A (p.Arg3126=) n.12216C>A c.12418C>A (p.Arg4140=) c.12346C>A (p.Arg4116=) c.12208C>A (p.Arg4070=) c.10294C>A (p.Arg3432=) | dbSNP gnomAD v4 |
16 | g.2090432T>A | CA493044423 | PKD1 | c.12297A>T (p.Leu4099=) c.12294A>T (p.Leu4098=) n.325A>T c.9252A>T (p.Leu3084=) c.12375A>T (p.Leu4125=) c.12372A>T (p.Leu4124=) c.12357A>T (p.Leu4119=) c.12351A>T (p.Leu4117=) c.12348A>T (p.Leu4116=) c.12321A>T (p.Leu4107=) c.12303A>T (p.Leu4101=) c.12249A>T (p.Leu4083=) c.12168A>T (p.Leu4056=) c.12111A>T (p.Leu4037=) c.10197A>T (p.Leu3399=) c.9375A>T (p.Leu3125=) n.12215A>T c.12417A>T (p.Leu4139=) c.12345A>T (p.Leu4115=) c.12207A>T (p.Leu4069=) c.10293A>T (p.Leu3431=) | gnomAD v4 |
16 | g.2090432T>C | CA493044430 | PKD1 | c.12297A>G (p.Leu4099=) c.12294A>G (p.Leu4098=) n.325A>G c.9252A>G (p.Leu3084=) c.12375A>G (p.Leu4125=) c.12372A>G (p.Leu4124=) c.12357A>G (p.Leu4119=) c.12351A>G (p.Leu4117=) c.12348A>G (p.Leu4116=) c.12321A>G (p.Leu4107=) c.12303A>G (p.Leu4101=) c.12249A>G (p.Leu4083=) c.12168A>G (p.Leu4056=) c.12111A>G (p.Leu4037=) c.10197A>G (p.Leu3399=) c.9375A>G (p.Leu3125=) n.12215A>G c.12417A>G (p.Leu4139=) c.12345A>G (p.Leu4115=) c.12207A>G (p.Leu4069=) c.10293A>G (p.Leu3431=) | ClinVar dbSNP gnomAD v4 |
16 | g.2090432T>G | CA493044426 | PKD1 | c.12297A>C (p.Leu4099=) c.12294A>C (p.Leu4098=) n.325A>C c.9252A>C (p.Leu3084=) c.12375A>C (p.Leu4125=) c.12372A>C (p.Leu4124=) c.12357A>C (p.Leu4119=) c.12351A>C (p.Leu4117=) c.12348A>C (p.Leu4116=) c.12321A>C (p.Leu4107=) c.12303A>C (p.Leu4101=) c.12249A>C (p.Leu4083=) c.12168A>C (p.Leu4056=) c.12111A>C (p.Leu4037=) c.10197A>C (p.Leu3399=) c.9375A>C (p.Leu3125=) n.12215A>C c.12417A>C (p.Leu4139=) c.12345A>C (p.Leu4115=) c.12207A>C (p.Leu4069=) c.10293A>C (p.Leu3431=) | gnomAD v4 |
16 | g.2090432T= | CA2202041748 | PKD1 | c.12297A= (p.Leu4099=) c.12294A= (p.Leu4098=) n.325A= c.9252A= (p.Leu3084=) c.12375A= (p.Leu4125=) c.12372A= (p.Leu4124=) c.12357A= (p.Leu4119=) c.12351A= (p.Leu4117=) c.12348A= (p.Leu4116=) c.12321A= (p.Leu4107=) c.12303A= (p.Leu4101=) c.12249A= (p.Leu4083=) c.12168A= (p.Leu4056=) c.12111A= (p.Leu4037=) c.10197A= (p.Leu3399=) c.9375A= (p.Leu3125=) n.12215A= c.12417A= (p.Leu4139=) c.12345A= (p.Leu4115=) c.12207A= (p.Leu4069=) c.10293A= (p.Leu3431=) | |
16 | g.2090433A>C | CA394325639 | PKD1 | c.12296T>G (p.Leu4099Arg) c.12293T>G (p.Leu4098Arg) n.324T>G c.9251T>G (p.Leu3084Arg) c.12374T>G (p.Leu4125Arg) c.12371T>G (p.Leu4124Arg) c.12356T>G (p.Leu4119Arg) c.12350T>G (p.Leu4117Arg) c.12347T>G (p.Leu4116Arg) c.12320T>G (p.Leu4107Arg) c.12302T>G (p.Leu4101Arg) c.12248T>G (p.Leu4083Arg) c.12167T>G (p.Leu4056Arg) c.12110T>G (p.Leu4037Arg) c.10196T>G (p.Leu3399Arg) c.9374T>G (p.Leu3125Arg) n.12214T>G c.12416T>G (p.Leu4139Arg) c.12344T>G (p.Leu4115Arg) c.12206T>G (p.Leu4069Arg) c.10292T>G (p.Leu3431Arg) | |
16 | g.2090433A>G | CA394325642 | PKD1 | c.12296T>C (p.Leu4099Pro) c.12293T>C (p.Leu4098Pro) n.324T>C c.9251T>C (p.Leu3084Pro) c.12374T>C (p.Leu4125Pro) c.12371T>C (p.Leu4124Pro) c.12356T>C (p.Leu4119Pro) c.12350T>C (p.Leu4117Pro) c.12347T>C (p.Leu4116Pro) c.12320T>C (p.Leu4107Pro) c.12302T>C (p.Leu4101Pro) c.12248T>C (p.Leu4083Pro) c.12167T>C (p.Leu4056Pro) c.12110T>C (p.Leu4037Pro) c.10196T>C (p.Leu3399Pro) c.9374T>C (p.Leu3125Pro) n.12214T>C c.12416T>C (p.Leu4139Pro) c.12344T>C (p.Leu4115Pro) c.12206T>C (p.Leu4069Pro) c.10292T>C (p.Leu3431Pro) | |
16 | g.2090433A>T | CA394325644 | PKD1 | c.12296T>A (p.Leu4099Gln) c.12293T>A (p.Leu4098Gln) n.324T>A c.9251T>A (p.Leu3084Gln) c.12374T>A (p.Leu4125Gln) c.12371T>A (p.Leu4124Gln) c.12356T>A (p.Leu4119Gln) c.12350T>A (p.Leu4117Gln) c.12347T>A (p.Leu4116Gln) c.12320T>A (p.Leu4107Gln) c.12302T>A (p.Leu4101Gln) c.12248T>A (p.Leu4083Gln) c.12167T>A (p.Leu4056Gln) c.12110T>A (p.Leu4037Gln) c.10196T>A (p.Leu3399Gln) c.9374T>A (p.Leu3125Gln) n.12214T>A c.12416T>A (p.Leu4139Gln) c.12344T>A (p.Leu4115Gln) c.12206T>A (p.Leu4069Gln) c.10292T>A (p.Leu3431Gln) | |
16 | g.2090434G>A | CA493044432 | PKD1 | c.12295C>T (p.Leu4099=) c.12292C>T (p.Leu4098=) n.323C>T c.9250C>T (p.Leu3084=) c.12373C>T (p.Leu4125=) c.12370C>T (p.Leu4124=) c.12355C>T (p.Leu4119=) c.12349C>T (p.Leu4117=) c.12346C>T (p.Leu4116=) c.12319C>T (p.Leu4107=) c.12301C>T (p.Leu4101=) c.12247C>T (p.Leu4083=) c.12166C>T (p.Leu4056=) c.12109C>T (p.Leu4037=) c.10195C>T (p.Leu3399=) c.9373C>T (p.Leu3125=) n.12213C>T c.12415C>T (p.Leu4139=) c.12343C>T (p.Leu4115=) c.12205C>T (p.Leu4069=) c.10291C>T (p.Leu3431=) | dbSNP gnomAD v4 |
16 | g.2090434G>C | CA394325645 | PKD1 | c.12295C>G (p.Leu4099Val) c.12292C>G (p.Leu4098Val) n.323C>G c.9250C>G (p.Leu3084Val) c.12373C>G (p.Leu4125Val) c.12370C>G (p.Leu4124Val) c.12355C>G (p.Leu4119Val) c.12349C>G (p.Leu4117Val) c.12346C>G (p.Leu4116Val) c.12319C>G (p.Leu4107Val) c.12301C>G (p.Leu4101Val) c.12247C>G (p.Leu4083Val) c.12166C>G (p.Leu4056Val) c.12109C>G (p.Leu4037Val) c.10195C>G (p.Leu3399Val) c.9373C>G (p.Leu3125Val) n.12213C>G c.12415C>G (p.Leu4139Val) c.12343C>G (p.Leu4115Val) c.12205C>G (p.Leu4069Val) c.10291C>G (p.Leu3431Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090434G= | CA2202041751 | PKD1 | c.12295C= (p.Leu4099=) c.12292C= (p.Leu4098=) n.323C= c.9250C= (p.Leu3084=) c.12373C= (p.Leu4125=) c.12370C= (p.Leu4124=) c.12355C= (p.Leu4119=) c.12349C= (p.Leu4117=) c.12346C= (p.Leu4116=) c.12319C= (p.Leu4107=) c.12301C= (p.Leu4101=) c.12247C= (p.Leu4083=) c.12166C= (p.Leu4056=) c.12109C= (p.Leu4037=) c.10195C= (p.Leu3399=) c.9373C= (p.Leu3125=) n.12213C= c.12415C= (p.Leu4139=) c.12343C= (p.Leu4115=) c.12205C= (p.Leu4069=) c.10291C= (p.Leu3431=) | |
16 | g.2090434G>T | CA394325646 | PKD1 | c.12295C>A (p.Leu4099Ile) c.12292C>A (p.Leu4098Ile) n.323C>A c.9250C>A (p.Leu3084Ile) c.12373C>A (p.Leu4125Ile) c.12370C>A (p.Leu4124Ile) c.12355C>A (p.Leu4119Ile) c.12349C>A (p.Leu4117Ile) c.12346C>A (p.Leu4116Ile) c.12319C>A (p.Leu4107Ile) c.12301C>A (p.Leu4101Ile) c.12247C>A (p.Leu4083Ile) c.12166C>A (p.Leu4056Ile) c.12109C>A (p.Leu4037Ile) c.10195C>A (p.Leu3399Ile) c.9373C>A (p.Leu3125Ile) n.12213C>A c.12415C>A (p.Leu4139Ile) c.12343C>A (p.Leu4115Ile) c.12205C>A (p.Leu4069Ile) c.10291C>A (p.Leu3431Ile) | |
16 | g.2090435G>A | CA276764108 | PKD1 | c.12294C>T (p.Ala4098=) c.12291C>T (p.Ala4097=) n.322C>T c.9249C>T (p.Ala3083=) c.12372C>T (p.Ala4124=) c.12369C>T (p.Ala4123=) c.12354C>T (p.Ala4118=) c.12348C>T (p.Ala4116=) c.12345C>T (p.Ala4115=) c.12318C>T (p.Ala4106=) c.12300C>T (p.Ala4100=) c.12246C>T (p.Ala4082=) c.12165C>T (p.Ala4055=) c.12108C>T (p.Ala4036=) c.10194C>T (p.Ala3398=) c.9372C>T (p.Ala3124=) n.12212C>T c.12414C>T (p.Ala4138=) c.12342C>T (p.Ala4114=) c.12204C>T (p.Ala4068=) c.10290C>T (p.Ala3430=) | dbSNP gnomAD v4 |
16 | g.2090435G>C | CA493044434 | PKD1 | c.12294C>G (p.Ala4098=) c.12291C>G (p.Ala4097=) n.322C>G c.9249C>G (p.Ala3083=) c.12372C>G (p.Ala4124=) c.12369C>G (p.Ala4123=) c.12354C>G (p.Ala4118=) c.12348C>G (p.Ala4116=) c.12345C>G (p.Ala4115=) c.12318C>G (p.Ala4106=) c.12300C>G (p.Ala4100=) c.12246C>G (p.Ala4082=) c.12165C>G (p.Ala4055=) c.12108C>G (p.Ala4036=) c.10194C>G (p.Ala3398=) c.9372C>G (p.Ala3124=) n.12212C>G c.12414C>G (p.Ala4138=) c.12342C>G (p.Ala4114=) c.12204C>G (p.Ala4068=) c.10290C>G (p.Ala3430=) | |
16 | g.2090435G= | CA2202041752 | PKD1 | c.12294C= (p.Ala4098=) c.12291C= (p.Ala4097=) n.322C= c.9249C= (p.Ala3083=) c.12372C= (p.Ala4124=) c.12369C= (p.Ala4123=) c.12354C= (p.Ala4118=) c.12348C= (p.Ala4116=) c.12345C= (p.Ala4115=) c.12318C= (p.Ala4106=) c.12300C= (p.Ala4100=) c.12246C= (p.Ala4082=) c.12165C= (p.Ala4055=) c.12108C= (p.Ala4036=) c.10194C= (p.Ala3398=) c.9372C= (p.Ala3124=) n.12212C= c.12414C= (p.Ala4138=) c.12342C= (p.Ala4114=) c.12204C= (p.Ala4068=) c.10290C= (p.Ala3430=) | |
16 | g.2090435G>T | CA493044435 | PKD1 | c.12294C>A (p.Ala4098=) c.12291C>A (p.Ala4097=) n.322C>A c.9249C>A (p.Ala3083=) c.12372C>A (p.Ala4124=) c.12369C>A (p.Ala4123=) c.12354C>A (p.Ala4118=) c.12348C>A (p.Ala4116=) c.12345C>A (p.Ala4115=) c.12318C>A (p.Ala4106=) c.12300C>A (p.Ala4100=) c.12246C>A (p.Ala4082=) c.12165C>A (p.Ala4055=) c.12108C>A (p.Ala4036=) c.10194C>A (p.Ala3398=) c.9372C>A (p.Ala3124=) n.12212C>A c.12414C>A (p.Ala4138=) c.12342C>A (p.Ala4114=) c.12204C>A (p.Ala4068=) c.10290C>A (p.Ala3430=) | |
16 | g.2090436G>A | CA394325650 | PKD1 | c.12293C>T (p.Ala4098Val) c.12290C>T (p.Ala4097Val) n.321C>T c.9248C>T (p.Ala3083Val) c.12371C>T (p.Ala4124Val) c.12368C>T (p.Ala4123Val) c.12353C>T (p.Ala4118Val) c.12347C>T (p.Ala4116Val) c.12344C>T (p.Ala4115Val) c.12317C>T (p.Ala4106Val) c.12299C>T (p.Ala4100Val) c.12245C>T (p.Ala4082Val) c.12164C>T (p.Ala4055Val) c.12107C>T (p.Ala4036Val) c.10193C>T (p.Ala3398Val) c.9371C>T (p.Ala3124Val) n.12211C>T c.12413C>T (p.Ala4138Val) c.12341C>T (p.Ala4114Val) c.12203C>T (p.Ala4068Val) c.10289C>T (p.Ala3430Val) | gnomAD v4 |
16 | g.2090436G>C | CA394325653 | PKD1 | c.12293C>G (p.Ala4098Gly) c.12290C>G (p.Ala4097Gly) n.321C>G c.9248C>G (p.Ala3083Gly) c.12371C>G (p.Ala4124Gly) c.12368C>G (p.Ala4123Gly) c.12353C>G (p.Ala4118Gly) c.12347C>G (p.Ala4116Gly) c.12344C>G (p.Ala4115Gly) c.12317C>G (p.Ala4106Gly) c.12299C>G (p.Ala4100Gly) c.12245C>G (p.Ala4082Gly) c.12164C>G (p.Ala4055Gly) c.12107C>G (p.Ala4036Gly) c.10193C>G (p.Ala3398Gly) c.9371C>G (p.Ala3124Gly) n.12211C>G c.12413C>G (p.Ala4138Gly) c.12341C>G (p.Ala4114Gly) c.12203C>G (p.Ala4068Gly) c.10289C>G (p.Ala3430Gly) | |
16 | g.2090436G>T | CA394325654 | PKD1 | c.12293C>A (p.Ala4098Asp) c.12290C>A (p.Ala4097Asp) n.321C>A c.9248C>A (p.Ala3083Asp) c.12371C>A (p.Ala4124Asp) c.12368C>A (p.Ala4123Asp) c.12353C>A (p.Ala4118Asp) c.12347C>A (p.Ala4116Asp) c.12344C>A (p.Ala4115Asp) c.12317C>A (p.Ala4106Asp) c.12299C>A (p.Ala4100Asp) c.12245C>A (p.Ala4082Asp) c.12164C>A (p.Ala4055Asp) c.12107C>A (p.Ala4036Asp) c.10193C>A (p.Ala3398Asp) c.9371C>A (p.Ala3124Asp) n.12211C>A c.12413C>A (p.Ala4138Asp) c.12341C>A (p.Ala4114Asp) c.12203C>A (p.Ala4068Asp) c.10289C>A (p.Ala3430Asp) | |
16 | g.2090437C>A | CA394325658 | PKD1 | c.12292G>T (p.Ala4098Ser) c.12289G>T (p.Ala4097Ser) n.320G>T c.9247G>T (p.Ala3083Ser) c.12370G>T (p.Ala4124Ser) c.12367G>T (p.Ala4123Ser) c.12352G>T (p.Ala4118Ser) c.12346G>T (p.Ala4116Ser) c.12343G>T (p.Ala4115Ser) c.12316G>T (p.Ala4106Ser) c.12298G>T (p.Ala4100Ser) c.12244G>T (p.Ala4082Ser) c.12163G>T (p.Ala4055Ser) c.12106G>T (p.Ala4036Ser) c.10192G>T (p.Ala3398Ser) c.9370G>T (p.Ala3124Ser) n.12210G>T c.12412G>T (p.Ala4138Ser) c.12340G>T (p.Ala4114Ser) c.12202G>T (p.Ala4068Ser) c.10288G>T (p.Ala3430Ser) | gnomAD v4 |
16 | g.2090437C= | CA2202041757 | PKD1 | c.12292G= (p.Ala4098=) c.12289G= (p.Ala4097=) n.320G= c.9247G= (p.Ala3083=) c.12370G= (p.Ala4124=) c.12367G= (p.Ala4123=) c.12352G= (p.Ala4118=) c.12346G= (p.Ala4116=) c.12343G= (p.Ala4115=) c.12316G= (p.Ala4106=) c.12298G= (p.Ala4100=) c.12244G= (p.Ala4082=) c.12163G= (p.Ala4055=) c.12106G= (p.Ala4036=) c.10192G= (p.Ala3398=) c.9370G= (p.Ala3124=) n.12210G= c.12412G= (p.Ala4138=) c.12340G= (p.Ala4114=) c.12202G= (p.Ala4068=) c.10288G= (p.Ala3430=) | |
16 | g.2090437C>G | CA394325659 | PKD1 | c.12292G>C (p.Ala4098Pro) c.12289G>C (p.Ala4097Pro) n.320G>C c.9247G>C (p.Ala3083Pro) c.12370G>C (p.Ala4124Pro) c.12367G>C (p.Ala4123Pro) c.12352G>C (p.Ala4118Pro) c.12346G>C (p.Ala4116Pro) c.12343G>C (p.Ala4115Pro) c.12316G>C (p.Ala4106Pro) c.12298G>C (p.Ala4100Pro) c.12244G>C (p.Ala4082Pro) c.12163G>C (p.Ala4055Pro) c.12106G>C (p.Ala4036Pro) c.10192G>C (p.Ala3398Pro) c.9370G>C (p.Ala3124Pro) n.12210G>C c.12412G>C (p.Ala4138Pro) c.12340G>C (p.Ala4114Pro) c.12202G>C (p.Ala4068Pro) c.10288G>C (p.Ala3430Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090437C>T | CA394325660 | PKD1 | c.12292G>A (p.Ala4098Thr) c.12289G>A (p.Ala4097Thr) n.320G>A c.9247G>A (p.Ala3083Thr) c.12370G>A (p.Ala4124Thr) c.12367G>A (p.Ala4123Thr) c.12352G>A (p.Ala4118Thr) c.12346G>A (p.Ala4116Thr) c.12343G>A (p.Ala4115Thr) c.12316G>A (p.Ala4106Thr) c.12298G>A (p.Ala4100Thr) c.12244G>A (p.Ala4082Thr) c.12163G>A (p.Ala4055Thr) c.12106G>A (p.Ala4036Thr) c.10192G>A (p.Ala3398Thr) c.9370G>A (p.Ala3124Thr) n.12210G>A c.12412G>A (p.Ala4138Thr) c.12340G>A (p.Ala4114Thr) c.12202G>A (p.Ala4068Thr) c.10288G>A (p.Ala3430Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2090438G>A | CA7828696 | PKD1 | c.12291C>T (p.Gly4097=) c.12288C>T (p.Gly4096=) n.319C>T c.9246C>T (p.Gly3082=) c.12369C>T (p.Gly4123=) c.12366C>T (p.Gly4122=) c.12351C>T (p.Gly4117=) c.12345C>T (p.Gly4115=) c.12342C>T (p.Gly4114=) c.12315C>T (p.Gly4105=) c.12297C>T (p.Gly4099=) c.12243C>T (p.Gly4081=) c.12162C>T (p.Gly4054=) c.12105C>T (p.Gly4035=) c.10191C>T (p.Gly3397=) c.9369C>T (p.Gly3123=) n.12209C>T c.12411C>T (p.Gly4137=) c.12339C>T (p.Gly4113=) c.12201C>T (p.Gly4067=) c.10287C>T (p.Gly3429=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090438G>C | CA493044447 | PKD1 | c.12291C>G (p.Gly4097=) c.12288C>G (p.Gly4096=) n.319C>G c.9246C>G (p.Gly3082=) c.12369C>G (p.Gly4123=) c.12366C>G (p.Gly4122=) c.12351C>G (p.Gly4117=) c.12345C>G (p.Gly4115=) c.12342C>G (p.Gly4114=) c.12315C>G (p.Gly4105=) c.12297C>G (p.Gly4099=) c.12243C>G (p.Gly4081=) c.12162C>G (p.Gly4054=) c.12105C>G (p.Gly4035=) c.10191C>G (p.Gly3397=) c.9369C>G (p.Gly3123=) n.12209C>G c.12411C>G (p.Gly4137=) c.12339C>G (p.Gly4113=) c.12201C>G (p.Gly4067=) c.10287C>G (p.Gly3429=) | |
16 | g.2090438G= | CA2202041762 | PKD1 | c.12291C= (p.Gly4097=) c.12288C= (p.Gly4096=) n.319C= c.9246C= (p.Gly3082=) c.12369C= (p.Gly4123=) c.12366C= (p.Gly4122=) c.12351C= (p.Gly4117=) c.12345C= (p.Gly4115=) c.12342C= (p.Gly4114=) c.12315C= (p.Gly4105=) c.12297C= (p.Gly4099=) c.12243C= (p.Gly4081=) c.12162C= (p.Gly4054=) c.12105C= (p.Gly4035=) c.10191C= (p.Gly3397=) c.9369C= (p.Gly3123=) n.12209C= c.12411C= (p.Gly4137=) c.12339C= (p.Gly4113=) c.12201C= (p.Gly4067=) c.10287C= (p.Gly3429=) | |
16 | g.2090438G>T | CA493044449 | PKD1 | c.12291C>A (p.Gly4097=) c.12288C>A (p.Gly4096=) n.319C>A c.9246C>A (p.Gly3082=) c.12369C>A (p.Gly4123=) c.12366C>A (p.Gly4122=) c.12351C>A (p.Gly4117=) c.12345C>A (p.Gly4115=) c.12342C>A (p.Gly4114=) c.12315C>A (p.Gly4105=) c.12297C>A (p.Gly4099=) c.12243C>A (p.Gly4081=) c.12162C>A (p.Gly4054=) c.12105C>A (p.Gly4035=) c.10191C>A (p.Gly3397=) c.9369C>A (p.Gly3123=) n.12209C>A c.12411C>A (p.Gly4137=) c.12339C>A (p.Gly4113=) c.12201C>A (p.Gly4067=) c.10287C>A (p.Gly3429=) | |
16 | g.2090439C>A | CA394325667 | PKD1 | c.12290G>T (p.Gly4097Val) c.12287G>T (p.Gly4096Val) n.318G>T c.9245G>T (p.Gly3082Val) c.12368G>T (p.Gly4123Val) c.12365G>T (p.Gly4122Val) c.12350G>T (p.Gly4117Val) c.12344G>T (p.Gly4115Val) c.12341G>T (p.Gly4114Val) c.12314G>T (p.Gly4105Val) c.12296G>T (p.Gly4099Val) c.12242G>T (p.Gly4081Val) c.12161G>T (p.Gly4054Val) c.12104G>T (p.Gly4035Val) c.10190G>T (p.Gly3397Val) c.9368G>T (p.Gly3123Val) n.12208G>T c.12410G>T (p.Gly4137Val) c.12338G>T (p.Gly4113Val) c.12200G>T (p.Gly4067Val) c.10286G>T (p.Gly3429Val) | |
16 | g.2090439C>G | CA394325669 | PKD1 | c.12290G>C (p.Gly4097Ala) c.12287G>C (p.Gly4096Ala) n.318G>C c.9245G>C (p.Gly3082Ala) c.12368G>C (p.Gly4123Ala) c.12365G>C (p.Gly4122Ala) c.12350G>C (p.Gly4117Ala) c.12344G>C (p.Gly4115Ala) c.12341G>C (p.Gly4114Ala) c.12314G>C (p.Gly4105Ala) c.12296G>C (p.Gly4099Ala) c.12242G>C (p.Gly4081Ala) c.12161G>C (p.Gly4054Ala) c.12104G>C (p.Gly4035Ala) c.10190G>C (p.Gly3397Ala) c.9368G>C (p.Gly3123Ala) n.12208G>C c.12410G>C (p.Gly4137Ala) c.12338G>C (p.Gly4113Ala) c.12200G>C (p.Gly4067Ala) c.10286G>C (p.Gly3429Ala) | |
16 | g.2090439C>T | CA394325671 | PKD1 | c.12290G>A (p.Gly4097Asp) c.12287G>A (p.Gly4096Asp) n.318G>A c.9245G>A (p.Gly3082Asp) c.12368G>A (p.Gly4123Asp) c.12365G>A (p.Gly4122Asp) c.12350G>A (p.Gly4117Asp) c.12344G>A (p.Gly4115Asp) c.12341G>A (p.Gly4114Asp) c.12314G>A (p.Gly4105Asp) c.12296G>A (p.Gly4099Asp) c.12242G>A (p.Gly4081Asp) c.12161G>A (p.Gly4054Asp) c.12104G>A (p.Gly4035Asp) c.10190G>A (p.Gly3397Asp) c.9368G>A (p.Gly3123Asp) n.12208G>A c.12410G>A (p.Gly4137Asp) c.12338G>A (p.Gly4113Asp) c.12200G>A (p.Gly4067Asp) c.10286G>A (p.Gly3429Asp) | gnomAD v4 |
16 | g.2090442del | CA2841530046 | PKD1 | c.12290del (p.Gly4097AlafsTer?) c.12287del (p.Gly4096AlafsTer?) n.318del c.9245del (p.Gly3082AlafsTer?) c.12368del (p.Gly4123AlafsTer?) c.12365del (p.Gly4122AlafsTer?) c.12350del (p.Gly4117AlafsTer?) c.12344del (p.Gly4115AlafsTer?) c.12341del (p.Gly4114AlafsTer?) c.12314del (p.Gly4105AlafsTer?) c.12296del (p.Gly4099AlafsTer?) c.12242del (p.Gly4081AlafsTer?) c.12161del (p.Gly4054AlafsTer?) c.12104del (p.Gly4035AlafsTer?) c.10190del (p.Gly3397AlafsTer?) c.9368del (p.Gly3123AlafsTer?) n.12208del c.12410del (p.Gly4137AlafsTer?) c.12338del (p.Gly4113AlafsTer?) c.12200del (p.Gly4067AlafsTer?) c.10286del (p.Gly3429AlafsTer?) | |
16 | g.2090440C>A | CA394325674 | PKD1 | c.12289G>T (p.Gly4097Cys) c.12286G>T (p.Gly4096Cys) n.317G>T c.9244G>T (p.Gly3082Cys) c.12367G>T (p.Gly4123Cys) c.12364G>T (p.Gly4122Cys) c.12349G>T (p.Gly4117Cys) c.12343G>T (p.Gly4115Cys) c.12340G>T (p.Gly4114Cys) c.12313G>T (p.Gly4105Cys) c.12295G>T (p.Gly4099Cys) c.12241G>T (p.Gly4081Cys) c.12160G>T (p.Gly4054Cys) c.12103G>T (p.Gly4035Cys) c.10189G>T (p.Gly3397Cys) c.9367G>T (p.Gly3123Cys) n.12207G>T c.12409G>T (p.Gly4137Cys) c.12337G>T (p.Gly4113Cys) c.12199G>T (p.Gly4067Cys) c.10285G>T (p.Gly3429Cys) | |
16 | g.2090440C>G | CA394325676 | PKD1 | c.12289G>C (p.Gly4097Arg) c.12286G>C (p.Gly4096Arg) n.317G>C c.9244G>C (p.Gly3082Arg) c.12367G>C (p.Gly4123Arg) c.12364G>C (p.Gly4122Arg) c.12349G>C (p.Gly4117Arg) c.12343G>C (p.Gly4115Arg) c.12340G>C (p.Gly4114Arg) c.12313G>C (p.Gly4105Arg) c.12295G>C (p.Gly4099Arg) c.12241G>C (p.Gly4081Arg) c.12160G>C (p.Gly4054Arg) c.12103G>C (p.Gly4035Arg) c.10189G>C (p.Gly3397Arg) c.9367G>C (p.Gly3123Arg) n.12207G>C c.12409G>C (p.Gly4137Arg) c.12337G>C (p.Gly4113Arg) c.12199G>C (p.Gly4067Arg) c.10285G>C (p.Gly3429Arg) | |
16 | g.2090440C>T | CA394325682 | PKD1 | c.12289G>A (p.Gly4097Ser) c.12286G>A (p.Gly4096Ser) n.317G>A c.9244G>A (p.Gly3082Ser) c.12367G>A (p.Gly4123Ser) c.12364G>A (p.Gly4122Ser) c.12349G>A (p.Gly4117Ser) c.12343G>A (p.Gly4115Ser) c.12340G>A (p.Gly4114Ser) c.12313G>A (p.Gly4105Ser) c.12295G>A (p.Gly4099Ser) c.12241G>A (p.Gly4081Ser) c.12160G>A (p.Gly4054Ser) c.12103G>A (p.Gly4035Ser) c.10189G>A (p.Gly3397Ser) c.9367G>A (p.Gly3123Ser) n.12207G>A c.12409G>A (p.Gly4137Ser) c.12337G>A (p.Gly4113Ser) c.12199G>A (p.Gly4067Ser) c.10285G>A (p.Gly3429Ser) | |
16 | g.2090441C>A | CA394325687 | PKD1 | c.12288G>T (p.Trp4096Cys) c.12285G>T (p.Trp4095Cys) n.316G>T c.9243G>T (p.Trp3081Cys) c.12366G>T (p.Trp4122Cys) c.12363G>T (p.Trp4121Cys) c.12348G>T (p.Trp4116Cys) c.12342G>T (p.Trp4114Cys) c.12339G>T (p.Trp4113Cys) c.12312G>T (p.Trp4104Cys) c.12294G>T (p.Trp4098Cys) c.12240G>T (p.Trp4080Cys) c.12159G>T (p.Trp4053Cys) c.12102G>T (p.Trp4034Cys) c.10188G>T (p.Trp3396Cys) c.9366G>T (p.Trp3122Cys) n.12206G>T c.12408G>T (p.Trp4136Cys) c.12336G>T (p.Trp4112Cys) c.12198G>T (p.Trp4066Cys) c.10284G>T (p.Trp3428Cys) | |
16 | g.2090441C>G | CA394325685 | PKD1 | c.12288G>C (p.Trp4096Cys) c.12285G>C (p.Trp4095Cys) n.316G>C c.9243G>C (p.Trp3081Cys) c.12366G>C (p.Trp4122Cys) c.12363G>C (p.Trp4121Cys) c.12348G>C (p.Trp4116Cys) c.12342G>C (p.Trp4114Cys) c.12339G>C (p.Trp4113Cys) c.12312G>C (p.Trp4104Cys) c.12294G>C (p.Trp4098Cys) c.12240G>C (p.Trp4080Cys) c.12159G>C (p.Trp4053Cys) c.12102G>C (p.Trp4034Cys) c.10188G>C (p.Trp3396Cys) c.9366G>C (p.Trp3122Cys) n.12206G>C c.12408G>C (p.Trp4136Cys) c.12336G>C (p.Trp4112Cys) c.12198G>C (p.Trp4066Cys) c.10284G>C (p.Trp3428Cys) | |
16 | g.2090441C>T | CA394325686 | PKD1 | c.12288G>A (p.Trp4096Ter) c.12285G>A (p.Trp4095Ter) n.316G>A c.9243G>A (p.Trp3081Ter) c.12366G>A (p.Trp4122Ter) c.12363G>A (p.Trp4121Ter) c.12348G>A (p.Trp4116Ter) c.12342G>A (p.Trp4114Ter) c.12339G>A (p.Trp4113Ter) c.12312G>A (p.Trp4104Ter) c.12294G>A (p.Trp4098Ter) c.12240G>A (p.Trp4080Ter) c.12159G>A (p.Trp4053Ter) c.12102G>A (p.Trp4034Ter) c.10188G>A (p.Trp3396Ter) c.9366G>A (p.Trp3122Ter) n.12206G>A c.12408G>A (p.Trp4136Ter) c.12336G>A (p.Trp4112Ter) c.12198G>A (p.Trp4066Ter) c.10284G>A (p.Trp3428Ter) | |
16 | g.2090442C>A | CA394325691 | PKD1 | c.12287G>T (p.Trp4096Leu) c.12284G>T (p.Trp4095Leu) n.315G>T c.9242G>T (p.Trp3081Leu) c.12365G>T (p.Trp4122Leu) c.12362G>T (p.Trp4121Leu) c.12347G>T (p.Trp4116Leu) c.12341G>T (p.Trp4114Leu) c.12338G>T (p.Trp4113Leu) c.12311G>T (p.Trp4104Leu) c.12293G>T (p.Trp4098Leu) c.12239G>T (p.Trp4080Leu) c.12158G>T (p.Trp4053Leu) c.12101G>T (p.Trp4034Leu) c.10187G>T (p.Trp3396Leu) c.9365G>T (p.Trp3122Leu) n.12205G>T c.12407G>T (p.Trp4136Leu) c.12335G>T (p.Trp4112Leu) c.12197G>T (p.Trp4066Leu) c.10283G>T (p.Trp3428Leu) | |
16 | g.2090442C>G | CA394325694 | PKD1 | c.12287G>C (p.Trp4096Ser) c.12284G>C (p.Trp4095Ser) n.315G>C c.9242G>C (p.Trp3081Ser) c.12365G>C (p.Trp4122Ser) c.12362G>C (p.Trp4121Ser) c.12347G>C (p.Trp4116Ser) c.12341G>C (p.Trp4114Ser) c.12338G>C (p.Trp4113Ser) c.12311G>C (p.Trp4104Ser) c.12293G>C (p.Trp4098Ser) c.12239G>C (p.Trp4080Ser) c.12158G>C (p.Trp4053Ser) c.12101G>C (p.Trp4034Ser) c.10187G>C (p.Trp3396Ser) c.9365G>C (p.Trp3122Ser) n.12205G>C c.12407G>C (p.Trp4136Ser) c.12335G>C (p.Trp4112Ser) c.12197G>C (p.Trp4066Ser) c.10283G>C (p.Trp3428Ser) | |
16 | g.2090442C>T | CA394325698 | PKD1 | c.12287G>A (p.Trp4096Ter) c.12284G>A (p.Trp4095Ter) n.315G>A c.9242G>A (p.Trp3081Ter) c.12365G>A (p.Trp4122Ter) c.12362G>A (p.Trp4121Ter) c.12347G>A (p.Trp4116Ter) c.12341G>A (p.Trp4114Ter) c.12338G>A (p.Trp4113Ter) c.12311G>A (p.Trp4104Ter) c.12293G>A (p.Trp4098Ter) c.12239G>A (p.Trp4080Ter) c.12158G>A (p.Trp4053Ter) c.12101G>A (p.Trp4034Ter) c.10187G>A (p.Trp3396Ter) c.9365G>A (p.Trp3122Ter) n.12205G>A c.12407G>A (p.Trp4136Ter) c.12335G>A (p.Trp4112Ter) c.12197G>A (p.Trp4066Ter) c.10283G>A (p.Trp3428Ter) | |
16 | g.2090443A= | CA2202041766 | PKD1 | c.12286T= (p.Trp4096=) c.12283T= (p.Trp4095=) n.314T= c.9241T= (p.Trp3081=) c.12364T= (p.Trp4122=) c.12361T= (p.Trp4121=) c.12346T= (p.Trp4116=) c.12340T= (p.Trp4114=) c.12337T= (p.Trp4113=) c.12310T= (p.Trp4104=) c.12292T= (p.Trp4098=) c.12238T= (p.Trp4080=) c.12157T= (p.Trp4053=) c.12100T= (p.Trp4034=) c.10186T= (p.Trp3396=) c.9364T= (p.Trp3122=) n.12204T= c.12406T= (p.Trp4136=) c.12334T= (p.Trp4112=) c.12196T= (p.Trp4066=) c.10282T= (p.Trp3428=) | |
16 | g.2090443A>C | CA394325703 | PKD1 | c.12286T>G (p.Trp4096Gly) c.12283T>G (p.Trp4095Gly) n.314T>G c.9241T>G (p.Trp3081Gly) c.12364T>G (p.Trp4122Gly) c.12361T>G (p.Trp4121Gly) c.12346T>G (p.Trp4116Gly) c.12340T>G (p.Trp4114Gly) c.12337T>G (p.Trp4113Gly) c.12310T>G (p.Trp4104Gly) c.12292T>G (p.Trp4098Gly) c.12238T>G (p.Trp4080Gly) c.12157T>G (p.Trp4053Gly) c.12100T>G (p.Trp4034Gly) c.10186T>G (p.Trp3396Gly) c.9364T>G (p.Trp3122Gly) n.12204T>G c.12406T>G (p.Trp4136Gly) c.12334T>G (p.Trp4112Gly) c.12196T>G (p.Trp4066Gly) c.10282T>G (p.Trp3428Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090443A>G | CA394325707 | PKD1 | c.12286T>C (p.Trp4096Arg) c.12283T>C (p.Trp4095Arg) n.314T>C c.9241T>C (p.Trp3081Arg) c.12364T>C (p.Trp4122Arg) c.12361T>C (p.Trp4121Arg) c.12346T>C (p.Trp4116Arg) c.12340T>C (p.Trp4114Arg) c.12337T>C (p.Trp4113Arg) c.12310T>C (p.Trp4104Arg) c.12292T>C (p.Trp4098Arg) c.12238T>C (p.Trp4080Arg) c.12157T>C (p.Trp4053Arg) c.12100T>C (p.Trp4034Arg) c.10186T>C (p.Trp3396Arg) c.9364T>C (p.Trp3122Arg) n.12204T>C c.12406T>C (p.Trp4136Arg) c.12334T>C (p.Trp4112Arg) c.12196T>C (p.Trp4066Arg) c.10282T>C (p.Trp3428Arg) | dbSNP |
16 | g.2090443A>T | CA394325711 | PKD1 | c.12286T>A (p.Trp4096Arg) c.12283T>A (p.Trp4095Arg) n.314T>A c.9241T>A (p.Trp3081Arg) c.12364T>A (p.Trp4122Arg) c.12361T>A (p.Trp4121Arg) c.12346T>A (p.Trp4116Arg) c.12340T>A (p.Trp4114Arg) c.12337T>A (p.Trp4113Arg) c.12310T>A (p.Trp4104Arg) c.12292T>A (p.Trp4098Arg) c.12238T>A (p.Trp4080Arg) c.12157T>A (p.Trp4053Arg) c.12100T>A (p.Trp4034Arg) c.10186T>A (p.Trp3396Arg) c.9364T>A (p.Trp3122Arg) n.12204T>A c.12406T>A (p.Trp4136Arg) c.12334T>A (p.Trp4112Arg) c.12196T>A (p.Trp4066Arg) c.10282T>A (p.Trp3428Arg) | |
16 | g.2090444C>A | CA493044470 | PKD1 | c.12285G>T (p.Leu4095=) c.12282G>T (p.Leu4094=) n.313G>T c.9240G>T (p.Leu3080=) c.12363G>T (p.Leu4121=) c.12360G>T (p.Leu4120=) c.12345G>T (p.Leu4115=) c.12339G>T (p.Leu4113=) c.12336G>T (p.Leu4112=) c.12309G>T (p.Leu4103=) c.12291G>T (p.Leu4097=) c.12237G>T (p.Leu4079=) c.12156G>T (p.Leu4052=) c.12099G>T (p.Leu4033=) c.10185G>T (p.Leu3395=) c.9363G>T (p.Leu3121=) n.12203G>T c.12405G>T (p.Leu4135=) c.12333G>T (p.Leu4111=) c.12195G>T (p.Leu4065=) c.10281G>T (p.Leu3427=) | |
16 | g.2090444C= | CA2202041771 | PKD1 | c.12285G= (p.Leu4095=) c.12282G= (p.Leu4094=) n.313G= c.9240G= (p.Leu3080=) c.12363G= (p.Leu4121=) c.12360G= (p.Leu4120=) c.12345G= (p.Leu4115=) c.12339G= (p.Leu4113=) c.12336G= (p.Leu4112=) c.12309G= (p.Leu4103=) c.12291G= (p.Leu4097=) c.12237G= (p.Leu4079=) c.12156G= (p.Leu4052=) c.12099G= (p.Leu4033=) c.10185G= (p.Leu3395=) c.9363G= (p.Leu3121=) n.12203G= c.12405G= (p.Leu4135=) c.12333G= (p.Leu4111=) c.12195G= (p.Leu4065=) c.10281G= (p.Leu3427=) | |
16 | g.2090444C>G | CA493044472 | PKD1 | c.12285G>C (p.Leu4095=) c.12282G>C (p.Leu4094=) n.313G>C c.9240G>C (p.Leu3080=) c.12363G>C (p.Leu4121=) c.12360G>C (p.Leu4120=) c.12345G>C (p.Leu4115=) c.12339G>C (p.Leu4113=) c.12336G>C (p.Leu4112=) c.12309G>C (p.Leu4103=) c.12291G>C (p.Leu4097=) c.12237G>C (p.Leu4079=) c.12156G>C (p.Leu4052=) c.12099G>C (p.Leu4033=) c.10185G>C (p.Leu3395=) c.9363G>C (p.Leu3121=) n.12203G>C c.12405G>C (p.Leu4135=) c.12333G>C (p.Leu4111=) c.12195G>C (p.Leu4065=) c.10281G>C (p.Leu3427=) | |
16 | g.2090444C>T | CA7828697 | PKD1 | c.12285G>A (p.Leu4095=) c.12282G>A (p.Leu4094=) n.313G>A c.9240G>A (p.Leu3080=) c.12363G>A (p.Leu4121=) c.12360G>A (p.Leu4120=) c.12345G>A (p.Leu4115=) c.12339G>A (p.Leu4113=) c.12336G>A (p.Leu4112=) c.12309G>A (p.Leu4103=) c.12291G>A (p.Leu4097=) c.12237G>A (p.Leu4079=) c.12156G>A (p.Leu4052=) c.12099G>A (p.Leu4033=) c.10185G>A (p.Leu3395=) c.9363G>A (p.Leu3121=) n.12203G>A c.12405G>A (p.Leu4135=) c.12333G>A (p.Leu4111=) c.12195G>A (p.Leu4065=) c.10281G>A (p.Leu3427=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090445A= | CA2202041775 | PKD1 | c.12284T= (p.Leu4095=) c.12281T= (p.Leu4094=) n.312T= c.9239T= (p.Leu3080=) c.12362T= (p.Leu4121=) c.12359T= (p.Leu4120=) c.12344T= (p.Leu4115=) c.12338T= (p.Leu4113=) c.12335T= (p.Leu4112=) c.12308T= (p.Leu4103=) c.12290T= (p.Leu4097=) c.12236T= (p.Leu4079=) c.12155T= (p.Leu4052=) c.12098T= (p.Leu4033=) c.10184T= (p.Leu3395=) c.9362T= (p.Leu3121=) n.12202T= c.12404T= (p.Leu4135=) c.12332T= (p.Leu4111=) c.12194T= (p.Leu4065=) c.10280T= (p.Leu3427=) | |
16 | g.2090445A>C | CA394325723 | PKD1 | c.12284T>G (p.Leu4095Arg) c.12281T>G (p.Leu4094Arg) n.312T>G c.9239T>G (p.Leu3080Arg) c.12362T>G (p.Leu4121Arg) c.12359T>G (p.Leu4120Arg) c.12344T>G (p.Leu4115Arg) c.12338T>G (p.Leu4113Arg) c.12335T>G (p.Leu4112Arg) c.12308T>G (p.Leu4103Arg) c.12290T>G (p.Leu4097Arg) c.12236T>G (p.Leu4079Arg) c.12155T>G (p.Leu4052Arg) c.12098T>G (p.Leu4033Arg) c.10184T>G (p.Leu3395Arg) c.9362T>G (p.Leu3121Arg) n.12202T>G c.12404T>G (p.Leu4135Arg) c.12332T>G (p.Leu4111Arg) c.12194T>G (p.Leu4065Arg) c.10280T>G (p.Leu3427Arg) | |
16 | g.2090445A>G | CA7828698 | PKD1 | c.12284T>C (p.Leu4095Pro) c.12281T>C (p.Leu4094Pro) n.312T>C c.9239T>C (p.Leu3080Pro) c.12362T>C (p.Leu4121Pro) c.12359T>C (p.Leu4120Pro) c.12344T>C (p.Leu4115Pro) c.12338T>C (p.Leu4113Pro) c.12335T>C (p.Leu4112Pro) c.12308T>C (p.Leu4103Pro) c.12290T>C (p.Leu4097Pro) c.12236T>C (p.Leu4079Pro) c.12155T>C (p.Leu4052Pro) c.12098T>C (p.Leu4033Pro) c.10184T>C (p.Leu3395Pro) c.9362T>C (p.Leu3121Pro) n.12202T>C c.12404T>C (p.Leu4135Pro) c.12332T>C (p.Leu4111Pro) c.12194T>C (p.Leu4065Pro) c.10280T>C (p.Leu3427Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090445A>T | CA394325728 | PKD1 | c.12284T>A (p.Leu4095Gln) c.12281T>A (p.Leu4094Gln) n.312T>A c.9239T>A (p.Leu3080Gln) c.12362T>A (p.Leu4121Gln) c.12359T>A (p.Leu4120Gln) c.12344T>A (p.Leu4115Gln) c.12338T>A (p.Leu4113Gln) c.12335T>A (p.Leu4112Gln) c.12308T>A (p.Leu4103Gln) c.12290T>A (p.Leu4097Gln) c.12236T>A (p.Leu4079Gln) c.12155T>A (p.Leu4052Gln) c.12098T>A (p.Leu4033Gln) c.10184T>A (p.Leu3395Gln) c.9362T>A (p.Leu3121Gln) n.12202T>A c.12404T>A (p.Leu4135Gln) c.12332T>A (p.Leu4111Gln) c.12194T>A (p.Leu4065Gln) c.10280T>A (p.Leu3427Gln) | |
16 | g.2090446G>A | CA493044479 | PKD1 | c.12283C>T (p.Leu4095=) c.12280C>T (p.Leu4094=) n.311C>T c.9238C>T (p.Leu3080=) c.12361C>T (p.Leu4121=) c.12358C>T (p.Leu4120=) c.12343C>T (p.Leu4115=) c.12337C>T (p.Leu4113=) c.12334C>T (p.Leu4112=) c.12307C>T (p.Leu4103=) c.12289C>T (p.Leu4097=) c.12235C>T (p.Leu4079=) c.12154C>T (p.Leu4052=) c.12097C>T (p.Leu4033=) c.10183C>T (p.Leu3395=) c.9361C>T (p.Leu3121=) n.12201C>T c.12403C>T (p.Leu4135=) c.12331C>T (p.Leu4111=) c.12193C>T (p.Leu4065=) c.10279C>T (p.Leu3427=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090446G>C | CA394325734 | PKD1 | c.12283C>G (p.Leu4095Val) c.12280C>G (p.Leu4094Val) n.311C>G c.9238C>G (p.Leu3080Val) c.12361C>G (p.Leu4121Val) c.12358C>G (p.Leu4120Val) c.12343C>G (p.Leu4115Val) c.12337C>G (p.Leu4113Val) c.12334C>G (p.Leu4112Val) c.12307C>G (p.Leu4103Val) c.12289C>G (p.Leu4097Val) c.12235C>G (p.Leu4079Val) c.12154C>G (p.Leu4052Val) c.12097C>G (p.Leu4033Val) c.10183C>G (p.Leu3395Val) c.9361C>G (p.Leu3121Val) n.12201C>G c.12403C>G (p.Leu4135Val) c.12331C>G (p.Leu4111Val) c.12193C>G (p.Leu4065Val) c.10279C>G (p.Leu3427Val) | |
16 | g.2090446G= | CA2202041780 | PKD1 | c.12283C= (p.Leu4095=) c.12280C= (p.Leu4094=) n.311C= c.9238C= (p.Leu3080=) c.12361C= (p.Leu4121=) c.12358C= (p.Leu4120=) c.12343C= (p.Leu4115=) c.12337C= (p.Leu4113=) c.12334C= (p.Leu4112=) c.12307C= (p.Leu4103=) c.12289C= (p.Leu4097=) c.12235C= (p.Leu4079=) c.12154C= (p.Leu4052=) c.12097C= (p.Leu4033=) c.10183C= (p.Leu3395=) c.9361C= (p.Leu3121=) n.12201C= c.12403C= (p.Leu4135=) c.12331C= (p.Leu4111=) c.12193C= (p.Leu4065=) c.10279C= (p.Leu3427=) | |
16 | g.2090446G>T | CA394325737 | PKD1 | c.12283C>A (p.Leu4095Met) c.12280C>A (p.Leu4094Met) n.311C>A c.9238C>A (p.Leu3080Met) c.12361C>A (p.Leu4121Met) c.12358C>A (p.Leu4120Met) c.12343C>A (p.Leu4115Met) c.12337C>A (p.Leu4113Met) c.12334C>A (p.Leu4112Met) c.12307C>A (p.Leu4103Met) c.12289C>A (p.Leu4097Met) c.12235C>A (p.Leu4079Met) c.12154C>A (p.Leu4052Met) c.12097C>A (p.Leu4033Met) c.10183C>A (p.Leu3395Met) c.9361C>A (p.Leu3121Met) n.12201C>A c.12403C>A (p.Leu4135Met) c.12331C>A (p.Leu4111Met) c.12193C>A (p.Leu4065Met) c.10279C>A (p.Leu3427Met) | |
16 | g.2090447C>A | CA493044486 | PKD1 | c.12282G>T (p.Arg4094=) c.12279G>T (p.Arg4093=) n.310G>T c.9237G>T (p.Arg3079=) c.12360G>T (p.Arg4120=) c.12357G>T (p.Arg4119=) c.12342G>T (p.Arg4114=) c.12336G>T (p.Arg4112=) c.12333G>T (p.Arg4111=) c.12306G>T (p.Arg4102=) c.12288G>T (p.Arg4096=) c.12234G>T (p.Arg4078=) c.12153G>T (p.Arg4051=) c.12096G>T (p.Arg4032=) c.10182G>T (p.Arg3394=) c.9360G>T (p.Arg3120=) n.12200G>T c.12402G>T (p.Arg4134=) c.12330G>T (p.Arg4110=) c.12192G>T (p.Arg4064=) c.10278G>T (p.Arg3426=) | |
16 | g.2090447C= | CA2202041783 | PKD1 | c.12282G= (p.Arg4094=) c.12279G= (p.Arg4093=) n.310G= c.9237G= (p.Arg3079=) c.12360G= (p.Arg4120=) c.12357G= (p.Arg4119=) c.12342G= (p.Arg4114=) c.12336G= (p.Arg4112=) c.12333G= (p.Arg4111=) c.12306G= (p.Arg4102=) c.12288G= (p.Arg4096=) c.12234G= (p.Arg4078=) c.12153G= (p.Arg4051=) c.12096G= (p.Arg4032=) c.10182G= (p.Arg3394=) c.9360G= (p.Arg3120=) n.12200G= c.12402G= (p.Arg4134=) c.12330G= (p.Arg4110=) c.12192G= (p.Arg4064=) c.10278G= (p.Arg3426=) | |
16 | g.2090447C>G | CA493044482 | PKD1 | c.12282G>C (p.Arg4094=) c.12279G>C (p.Arg4093=) n.310G>C c.9237G>C (p.Arg3079=) c.12360G>C (p.Arg4120=) c.12357G>C (p.Arg4119=) c.12342G>C (p.Arg4114=) c.12336G>C (p.Arg4112=) c.12333G>C (p.Arg4111=) c.12306G>C (p.Arg4102=) c.12288G>C (p.Arg4096=) c.12234G>C (p.Arg4078=) c.12153G>C (p.Arg4051=) c.12096G>C (p.Arg4032=) c.10182G>C (p.Arg3394=) c.9360G>C (p.Arg3120=) n.12200G>C c.12402G>C (p.Arg4134=) c.12330G>C (p.Arg4110=) c.12192G>C (p.Arg4064=) c.10278G>C (p.Arg3426=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090447C>T | CA276764110 | PKD1 | c.12282G>A (p.Arg4094=) c.12279G>A (p.Arg4093=) n.310G>A c.9237G>A (p.Arg3079=) c.12360G>A (p.Arg4120=) c.12357G>A (p.Arg4119=) c.12342G>A (p.Arg4114=) c.12336G>A (p.Arg4112=) c.12333G>A (p.Arg4111=) c.12306G>A (p.Arg4102=) c.12288G>A (p.Arg4096=) c.12234G>A (p.Arg4078=) c.12153G>A (p.Arg4051=) c.12096G>A (p.Arg4032=) c.10182G>A (p.Arg3394=) c.9360G>A (p.Arg3120=) n.12200G>A c.12402G>A (p.Arg4134=) c.12330G>A (p.Arg4110=) c.12192G>A (p.Arg4064=) c.10278G>A (p.Arg3426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090448C>A | CA394325752 | PKD1 | c.12281G>T (p.Arg4094Leu) c.12278G>T (p.Arg4093Leu) n.309G>T c.9236G>T (p.Arg3079Leu) c.12359G>T (p.Arg4120Leu) c.12356G>T (p.Arg4119Leu) c.12341G>T (p.Arg4114Leu) c.12335G>T (p.Arg4112Leu) c.12332G>T (p.Arg4111Leu) c.12305G>T (p.Arg4102Leu) c.12287G>T (p.Arg4096Leu) c.12233G>T (p.Arg4078Leu) c.12152G>T (p.Arg4051Leu) c.12095G>T (p.Arg4032Leu) c.10181G>T (p.Arg3394Leu) c.9359G>T (p.Arg3120Leu) n.12199G>T c.12401G>T (p.Arg4134Leu) c.12329G>T (p.Arg4110Leu) c.12191G>T (p.Arg4064Leu) c.10277G>T (p.Arg3426Leu) | |
16 | g.2090448C= | CA2202041790 | PKD1 | c.12281G= (p.Arg4094=) c.12278G= (p.Arg4093=) n.309G= c.9236G= (p.Arg3079=) c.12359G= (p.Arg4120=) c.12356G= (p.Arg4119=) c.12341G= (p.Arg4114=) c.12335G= (p.Arg4112=) c.12332G= (p.Arg4111=) c.12305G= (p.Arg4102=) c.12287G= (p.Arg4096=) c.12233G= (p.Arg4078=) c.12152G= (p.Arg4051=) c.12095G= (p.Arg4032=) c.10181G= (p.Arg3394=) c.9359G= (p.Arg3120=) n.12199G= c.12401G= (p.Arg4134=) c.12329G= (p.Arg4110=) c.12191G= (p.Arg4064=) c.10277G= (p.Arg3426=) | |
16 | g.2090448C>G | CA394325750 | PKD1 | c.12281G>C (p.Arg4094Pro) c.12278G>C (p.Arg4093Pro) n.309G>C c.9236G>C (p.Arg3079Pro) c.12359G>C (p.Arg4120Pro) c.12356G>C (p.Arg4119Pro) c.12341G>C (p.Arg4114Pro) c.12335G>C (p.Arg4112Pro) c.12332G>C (p.Arg4111Pro) c.12305G>C (p.Arg4102Pro) c.12287G>C (p.Arg4096Pro) c.12233G>C (p.Arg4078Pro) c.12152G>C (p.Arg4051Pro) c.12095G>C (p.Arg4032Pro) c.10181G>C (p.Arg3394Pro) c.9359G>C (p.Arg3120Pro) n.12199G>C c.12401G>C (p.Arg4134Pro) c.12329G>C (p.Arg4110Pro) c.12191G>C (p.Arg4064Pro) c.10277G>C (p.Arg3426Pro) | |
16 | g.2090448C>T | CA394325760 | PKD1 | c.12281G>A (p.Arg4094Gln) c.12278G>A (p.Arg4093Gln) n.309G>A c.9236G>A (p.Arg3079Gln) c.12359G>A (p.Arg4120Gln) c.12356G>A (p.Arg4119Gln) c.12341G>A (p.Arg4114Gln) c.12335G>A (p.Arg4112Gln) c.12332G>A (p.Arg4111Gln) c.12305G>A (p.Arg4102Gln) c.12287G>A (p.Arg4096Gln) c.12233G>A (p.Arg4078Gln) c.12152G>A (p.Arg4051Gln) c.12095G>A (p.Arg4032Gln) c.10181G>A (p.Arg3394Gln) c.9359G>A (p.Arg3120Gln) n.12199G>A c.12401G>A (p.Arg4134Gln) c.12329G>A (p.Arg4110Gln) c.12191G>A (p.Arg4064Gln) c.10277G>A (p.Arg3426Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090449G>A | CA7828699 | PKD1 | c.12280C>T (p.Arg4094Trp) c.12277C>T (p.Arg4093Trp) n.308C>T c.9235C>T (p.Arg3079Trp) c.12358C>T (p.Arg4120Trp) c.12355C>T (p.Arg4119Trp) c.12340C>T (p.Arg4114Trp) c.12334C>T (p.Arg4112Trp) c.12331C>T (p.Arg4111Trp) c.12304C>T (p.Arg4102Trp) c.12286C>T (p.Arg4096Trp) c.12232C>T (p.Arg4078Trp) c.12151C>T (p.Arg4051Trp) c.12094C>T (p.Arg4032Trp) c.10180C>T (p.Arg3394Trp) c.9358C>T (p.Arg3120Trp) n.12198C>T c.12400C>T (p.Arg4134Trp) c.12328C>T (p.Arg4110Trp) c.12190C>T (p.Arg4064Trp) c.10276C>T (p.Arg3426Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090449G>C | CA394325768 | PKD1 | c.12280C>G (p.Arg4094Gly) c.12277C>G (p.Arg4093Gly) n.308C>G c.9235C>G (p.Arg3079Gly) c.12358C>G (p.Arg4120Gly) c.12355C>G (p.Arg4119Gly) c.12340C>G (p.Arg4114Gly) c.12334C>G (p.Arg4112Gly) c.12331C>G (p.Arg4111Gly) c.12304C>G (p.Arg4102Gly) c.12286C>G (p.Arg4096Gly) c.12232C>G (p.Arg4078Gly) c.12151C>G (p.Arg4051Gly) c.12094C>G (p.Arg4032Gly) c.10180C>G (p.Arg3394Gly) c.9358C>G (p.Arg3120Gly) n.12198C>G c.12400C>G (p.Arg4134Gly) c.12328C>G (p.Arg4110Gly) c.12190C>G (p.Arg4064Gly) c.10276C>G (p.Arg3426Gly) | |
16 | g.2090449G= | CA2202041797 | PKD1 | c.12280C= (p.Arg4094=) c.12277C= (p.Arg4093=) n.308C= c.9235C= (p.Arg3079=) c.12358C= (p.Arg4120=) c.12355C= (p.Arg4119=) c.12340C= (p.Arg4114=) c.12334C= (p.Arg4112=) c.12331C= (p.Arg4111=) c.12304C= (p.Arg4102=) c.12286C= (p.Arg4096=) c.12232C= (p.Arg4078=) c.12151C= (p.Arg4051=) c.12094C= (p.Arg4032=) c.10180C= (p.Arg3394=) c.9358C= (p.Arg3120=) n.12198C= c.12400C= (p.Arg4134=) c.12328C= (p.Arg4110=) c.12190C= (p.Arg4064=) c.10276C= (p.Arg3426=) | |
16 | g.2090449G>T | CA493044495 | PKD1 | c.12280C>A (p.Arg4094=) c.12277C>A (p.Arg4093=) n.308C>A c.9235C>A (p.Arg3079=) c.12358C>A (p.Arg4120=) c.12355C>A (p.Arg4119=) c.12340C>A (p.Arg4114=) c.12334C>A (p.Arg4112=) c.12331C>A (p.Arg4111=) c.12304C>A (p.Arg4102=) c.12286C>A (p.Arg4096=) c.12232C>A (p.Arg4078=) c.12151C>A (p.Arg4051=) c.12094C>A (p.Arg4032=) c.10180C>A (p.Arg3394=) c.9358C>A (p.Arg3120=) n.12198C>A c.12400C>A (p.Arg4134=) c.12328C>A (p.Arg4110=) c.12190C>A (p.Arg4064=) c.10276C>A (p.Arg3426=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090449_2090451delinsGCA | CA2202041795 | PKD1 | c.12278_12280delinsTGC (p.Leu4093=) c.12275_12277delinsTGC (p.Leu4092=) n.306_308delinsTGC c.9233_9235delinsTGC (p.Leu3078=) c.12356_12358delinsTGC (p.Leu4119=) c.12353_12355delinsTGC (p.Leu4118=) c.12338_12340delinsTGC (p.Leu4113=) c.12332_12334delinsTGC (p.Leu4111=) c.12329_12331delinsTGC (p.Leu4110=) c.12302_12304delinsTGC (p.Leu4101=) c.12284_12286delinsTGC (p.Leu4095=) c.12230_12232delinsTGC (p.Leu4077=) c.12149_12151delinsTGC (p.Leu4050=) c.12092_12094delinsTGC (p.Leu4031=) c.10178_10180delinsTGC (p.Leu3393=) c.9356_9358delinsTGC (p.Leu3119=) n.12196_12198delinsTGC c.12398_12400delinsTGC (p.Leu4133=) c.12326_12328delinsTGC (p.Leu4109=) c.12188_12190delinsTGC (p.Leu4063=) c.10274_10276delinsTGC (p.Leu3425=) | |
16 | g.2090450C>A | CA493044496 | PKD1 | c.12279G>T (p.Leu4093=) c.12276G>T (p.Leu4092=) n.307G>T c.9234G>T (p.Leu3078=) c.12357G>T (p.Leu4119=) c.12354G>T (p.Leu4118=) c.12339G>T (p.Leu4113=) c.12333G>T (p.Leu4111=) c.12330G>T (p.Leu4110=) c.12303G>T (p.Leu4101=) c.12285G>T (p.Leu4095=) c.12231G>T (p.Leu4077=) c.12150G>T (p.Leu4050=) c.12093G>T (p.Leu4031=) c.10179G>T (p.Leu3393=) c.9357G>T (p.Leu3119=) n.12197G>T c.12399G>T (p.Leu4133=) c.12327G>T (p.Leu4109=) c.12189G>T (p.Leu4063=) c.10275G>T (p.Leu3425=) | |
16 | g.2090450C>G | CA493044497 | PKD1 | c.12279G>C (p.Leu4093=) c.12276G>C (p.Leu4092=) n.307G>C c.9234G>C (p.Leu3078=) c.12357G>C (p.Leu4119=) c.12354G>C (p.Leu4118=) c.12339G>C (p.Leu4113=) c.12333G>C (p.Leu4111=) c.12330G>C (p.Leu4110=) c.12303G>C (p.Leu4101=) c.12285G>C (p.Leu4095=) c.12231G>C (p.Leu4077=) c.12150G>C (p.Leu4050=) c.12093G>C (p.Leu4031=) c.10179G>C (p.Leu3393=) c.9357G>C (p.Leu3119=) n.12197G>C c.12399G>C (p.Leu4133=) c.12327G>C (p.Leu4109=) c.12189G>C (p.Leu4063=) c.10275G>C (p.Leu3425=) | |
16 | g.2090450C>T | CA493044498 | PKD1 | c.12279G>A (p.Leu4093=) c.12276G>A (p.Leu4092=) n.307G>A c.9234G>A (p.Leu3078=) c.12357G>A (p.Leu4119=) c.12354G>A (p.Leu4118=) c.12339G>A (p.Leu4113=) c.12333G>A (p.Leu4111=) c.12330G>A (p.Leu4110=) c.12303G>A (p.Leu4101=) c.12285G>A (p.Leu4095=) c.12231G>A (p.Leu4077=) c.12150G>A (p.Leu4050=) c.12093G>A (p.Leu4031=) c.10179G>A (p.Leu3393=) c.9357G>A (p.Leu3119=) n.12197G>A c.12399G>A (p.Leu4133=) c.12327G>A (p.Leu4109=) c.12189G>A (p.Leu4063=) c.10275G>A (p.Leu3425=) | |
16 | g.2090450_2090451del | CA658798502 | PKD1 | c.12278_12279del (p.Leu4093ProfsTer?) c.12275_12276del (p.Leu4092ProfsTer?) n.306_307del c.9233_9234del (p.Leu3078ProfsTer?) c.12356_12357del (p.Leu4119ProfsTer?) c.12353_12354del (p.Leu4118ProfsTer?) c.12338_12339del (p.Leu4113ProfsTer?) c.12332_12333del (p.Leu4111ProfsTer?) c.12329_12330del (p.Leu4110ProfsTer?) c.12302_12303del (p.Leu4101ProfsTer?) c.12284_12285del (p.Leu4095ProfsTer?) c.12230_12231del (p.Leu4077ProfsTer?) c.12149_12150del (p.Leu4050ProfsTer?) c.12092_12093del (p.Leu4031ProfsTer?) c.10178_10179del (p.Leu3393ProfsTer?) c.9356_9357del (p.Leu3119ProfsTer?) n.12196_12197del c.12398_12399del (p.Leu4133ProfsTer?) c.12326_12327del (p.Leu4109ProfsTer?) c.12188_12189del (p.Leu4063ProfsTer?) c.10274_10275del (p.Leu3425ProfsTer?) | ClinVar dbSNP |
16 | g.2090451A>C | CA394325773 | PKD1 | c.12278T>G (p.Leu4093Arg) c.12275T>G (p.Leu4092Arg) n.306T>G c.9233T>G (p.Leu3078Arg) c.12356T>G (p.Leu4119Arg) c.12353T>G (p.Leu4118Arg) c.12338T>G (p.Leu4113Arg) c.12332T>G (p.Leu4111Arg) c.12329T>G (p.Leu4110Arg) c.12302T>G (p.Leu4101Arg) c.12284T>G (p.Leu4095Arg) c.12230T>G (p.Leu4077Arg) c.12149T>G (p.Leu4050Arg) c.12092T>G (p.Leu4031Arg) c.10178T>G (p.Leu3393Arg) c.9356T>G (p.Leu3119Arg) n.12196T>G c.12398T>G (p.Leu4133Arg) c.12326T>G (p.Leu4109Arg) c.12188T>G (p.Leu4063Arg) c.10274T>G (p.Leu3425Arg) | |
16 | g.2090451A>G | CA394325774 | PKD1 | c.12278T>C (p.Leu4093Pro) c.12275T>C (p.Leu4092Pro) n.306T>C c.9233T>C (p.Leu3078Pro) c.12356T>C (p.Leu4119Pro) c.12353T>C (p.Leu4118Pro) c.12338T>C (p.Leu4113Pro) c.12332T>C (p.Leu4111Pro) c.12329T>C (p.Leu4110Pro) c.12302T>C (p.Leu4101Pro) c.12284T>C (p.Leu4095Pro) c.12230T>C (p.Leu4077Pro) c.12149T>C (p.Leu4050Pro) c.12092T>C (p.Leu4031Pro) c.10178T>C (p.Leu3393Pro) c.9356T>C (p.Leu3119Pro) n.12196T>C c.12398T>C (p.Leu4133Pro) c.12326T>C (p.Leu4109Pro) c.12188T>C (p.Leu4063Pro) c.10274T>C (p.Leu3425Pro) | |
16 | g.2090451A>T | CA394325775 | PKD1 | c.12278T>A (p.Leu4093Gln) c.12275T>A (p.Leu4092Gln) n.306T>A c.9233T>A (p.Leu3078Gln) c.12356T>A (p.Leu4119Gln) c.12353T>A (p.Leu4118Gln) c.12338T>A (p.Leu4113Gln) c.12332T>A (p.Leu4111Gln) c.12329T>A (p.Leu4110Gln) c.12302T>A (p.Leu4101Gln) c.12284T>A (p.Leu4095Gln) c.12230T>A (p.Leu4077Gln) c.12149T>A (p.Leu4050Gln) c.12092T>A (p.Leu4031Gln) c.10178T>A (p.Leu3393Gln) c.9356T>A (p.Leu3119Gln) n.12196T>A c.12398T>A (p.Leu4133Gln) c.12326T>A (p.Leu4109Gln) c.12188T>A (p.Leu4063Gln) c.10274T>A (p.Leu3425Gln) | |
16 | g.2090452G>A | CA493044501 | PKD1 | c.12277C>T (p.Leu4093=) c.12274C>T (p.Leu4092=) n.305C>T c.9232C>T (p.Leu3078=) c.12355C>T (p.Leu4119=) c.12352C>T (p.Leu4118=) c.12337C>T (p.Leu4113=) c.12331C>T (p.Leu4111=) c.12328C>T (p.Leu4110=) c.12301C>T (p.Leu4101=) c.12283C>T (p.Leu4095=) c.12229C>T (p.Leu4077=) c.12148C>T (p.Leu4050=) c.12091C>T (p.Leu4031=) c.10177C>T (p.Leu3393=) c.9355C>T (p.Leu3119=) n.12195C>T c.12397C>T (p.Leu4133=) c.12325C>T (p.Leu4109=) c.12187C>T (p.Leu4063=) c.10273C>T (p.Leu3425=) | dbSNP gnomAD v4 |
16 | g.2090452G>C | CA394325776 | PKD1 | c.12277C>G (p.Leu4093Val) c.12274C>G (p.Leu4092Val) n.305C>G c.9232C>G (p.Leu3078Val) c.12355C>G (p.Leu4119Val) c.12352C>G (p.Leu4118Val) c.12337C>G (p.Leu4113Val) c.12331C>G (p.Leu4111Val) c.12328C>G (p.Leu4110Val) c.12301C>G (p.Leu4101Val) c.12283C>G (p.Leu4095Val) c.12229C>G (p.Leu4077Val) c.12148C>G (p.Leu4050Val) c.12091C>G (p.Leu4031Val) c.10177C>G (p.Leu3393Val) c.9355C>G (p.Leu3119Val) n.12195C>G c.12397C>G (p.Leu4133Val) c.12325C>G (p.Leu4109Val) c.12187C>G (p.Leu4063Val) c.10273C>G (p.Leu3425Val) | |
16 | g.2090452G= | CA2202041803 | PKD1 | c.12277C= (p.Leu4093=) c.12274C= (p.Leu4092=) n.305C= c.9232C= (p.Leu3078=) c.12355C= (p.Leu4119=) c.12352C= (p.Leu4118=) c.12337C= (p.Leu4113=) c.12331C= (p.Leu4111=) c.12328C= (p.Leu4110=) c.12301C= (p.Leu4101=) c.12283C= (p.Leu4095=) c.12229C= (p.Leu4077=) c.12148C= (p.Leu4050=) c.12091C= (p.Leu4031=) c.10177C= (p.Leu3393=) c.9355C= (p.Leu3119=) n.12195C= c.12397C= (p.Leu4133=) c.12325C= (p.Leu4109=) c.12187C= (p.Leu4063=) c.10273C= (p.Leu3425=) | |
16 | g.2090452G>T | CA394325780 | PKD1 | c.12277C>A (p.Leu4093Met) c.12274C>A (p.Leu4092Met) n.305C>A c.9232C>A (p.Leu3078Met) c.12355C>A (p.Leu4119Met) c.12352C>A (p.Leu4118Met) c.12337C>A (p.Leu4113Met) c.12331C>A (p.Leu4111Met) c.12328C>A (p.Leu4110Met) c.12301C>A (p.Leu4101Met) c.12283C>A (p.Leu4095Met) c.12229C>A (p.Leu4077Met) c.12148C>A (p.Leu4050Met) c.12091C>A (p.Leu4031Met) c.10177C>A (p.Leu3393Met) c.9355C>A (p.Leu3119Met) n.12195C>A c.12397C>A (p.Leu4133Met) c.12325C>A (p.Leu4109Met) c.12187C>A (p.Leu4063Met) c.10273C>A (p.Leu3425Met) | gnomAD v4 |
16 | g.2090453T>A | CA493044505 | PKD1 | c.12276A>T (p.Ala4092=) c.12273A>T (p.Ala4091=) n.304A>T c.9231A>T (p.Ala3077=) c.12354A>T (p.Ala4118=) c.12351A>T (p.Ala4117=) c.12336A>T (p.Ala4112=) c.12330A>T (p.Ala4110=) c.12327A>T (p.Ala4109=) c.12300A>T (p.Ala4100=) c.12282A>T (p.Ala4094=) c.12228A>T (p.Ala4076=) c.12147A>T (p.Ala4049=) c.12090A>T (p.Ala4030=) c.10176A>T (p.Ala3392=) c.9354A>T (p.Ala3118=) n.12194A>T c.12396A>T (p.Ala4132=) c.12324A>T (p.Ala4108=) c.12186A>T (p.Ala4062=) c.10272A>T (p.Ala3424=) | |
16 | g.2090453T>C | CA7828700 | PKD1 | c.12276A>G (p.Ala4092=) c.12273A>G (p.Ala4091=) n.304A>G c.9231A>G (p.Ala3077=) c.12354A>G (p.Ala4118=) c.12351A>G (p.Ala4117=) c.12336A>G (p.Ala4112=) c.12330A>G (p.Ala4110=) c.12327A>G (p.Ala4109=) c.12300A>G (p.Ala4100=) c.12282A>G (p.Ala4094=) c.12228A>G (p.Ala4076=) c.12147A>G (p.Ala4049=) c.12090A>G (p.Ala4030=) c.10176A>G (p.Ala3392=) c.9354A>G (p.Ala3118=) n.12194A>G c.12396A>G (p.Ala4132=) c.12324A>G (p.Ala4108=) c.12186A>G (p.Ala4062=) c.10272A>G (p.Ala3424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090453T>G | CA7828701 | PKD1 | c.12276A>C (p.Ala4092=) c.12273A>C (p.Ala4091=) n.304A>C c.9231A>C (p.Ala3077=) c.12354A>C (p.Ala4118=) c.12351A>C (p.Ala4117=) c.12336A>C (p.Ala4112=) c.12330A>C (p.Ala4110=) c.12327A>C (p.Ala4109=) c.12300A>C (p.Ala4100=) c.12282A>C (p.Ala4094=) c.12228A>C (p.Ala4076=) c.12147A>C (p.Ala4049=) c.12090A>C (p.Ala4030=) c.10176A>C (p.Ala3392=) c.9354A>C (p.Ala3118=) n.12194A>C c.12396A>C (p.Ala4132=) c.12324A>C (p.Ala4108=) c.12186A>C (p.Ala4062=) c.10272A>C (p.Ala3424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090453T= | CA2202041809 | PKD1 | c.12276A= (p.Ala4092=) c.12273A= (p.Ala4091=) n.304A= c.9231A= (p.Ala3077=) c.12354A= (p.Ala4118=) c.12351A= (p.Ala4117=) c.12336A= (p.Ala4112=) c.12330A= (p.Ala4110=) c.12327A= (p.Ala4109=) c.12300A= (p.Ala4100=) c.12282A= (p.Ala4094=) c.12228A= (p.Ala4076=) c.12147A= (p.Ala4049=) c.12090A= (p.Ala4030=) c.10176A= (p.Ala3392=) c.9354A= (p.Ala3118=) n.12194A= c.12396A= (p.Ala4132=) c.12324A= (p.Ala4108=) c.12186A= (p.Ala4062=) c.10272A= (p.Ala3424=) | |
16 | g.2090454G>A | CA394325792 | PKD1 | c.12275C>T (p.Ala4092Val) c.12272C>T (p.Ala4091Val) n.303C>T c.9230C>T (p.Ala3077Val) c.12353C>T (p.Ala4118Val) c.12350C>T (p.Ala4117Val) c.12335C>T (p.Ala4112Val) c.12329C>T (p.Ala4110Val) c.12326C>T (p.Ala4109Val) c.12299C>T (p.Ala4100Val) c.12281C>T (p.Ala4094Val) c.12227C>T (p.Ala4076Val) c.12146C>T (p.Ala4049Val) c.12089C>T (p.Ala4030Val) c.10175C>T (p.Ala3392Val) c.9353C>T (p.Ala3118Val) n.12193C>T c.12395C>T (p.Ala4132Val) c.12323C>T (p.Ala4108Val) c.12185C>T (p.Ala4062Val) c.10271C>T (p.Ala3424Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090454G>C | CA394325794 | PKD1 | c.12275C>G (p.Ala4092Gly) c.12272C>G (p.Ala4091Gly) n.303C>G c.9230C>G (p.Ala3077Gly) c.12353C>G (p.Ala4118Gly) c.12350C>G (p.Ala4117Gly) c.12335C>G (p.Ala4112Gly) c.12329C>G (p.Ala4110Gly) c.12326C>G (p.Ala4109Gly) c.12299C>G (p.Ala4100Gly) c.12281C>G (p.Ala4094Gly) c.12227C>G (p.Ala4076Gly) c.12146C>G (p.Ala4049Gly) c.12089C>G (p.Ala4030Gly) c.10175C>G (p.Ala3392Gly) c.9353C>G (p.Ala3118Gly) n.12193C>G c.12395C>G (p.Ala4132Gly) c.12323C>G (p.Ala4108Gly) c.12185C>G (p.Ala4062Gly) c.10271C>G (p.Ala3424Gly) | |
16 | g.2090454G= | CA2202041817 | PKD1 | c.12275C= (p.Ala4092=) c.12272C= (p.Ala4091=) n.303C= c.9230C= (p.Ala3077=) c.12353C= (p.Ala4118=) c.12350C= (p.Ala4117=) c.12335C= (p.Ala4112=) c.12329C= (p.Ala4110=) c.12326C= (p.Ala4109=) c.12299C= (p.Ala4100=) c.12281C= (p.Ala4094=) c.12227C= (p.Ala4076=) c.12146C= (p.Ala4049=) c.12089C= (p.Ala4030=) c.10175C= (p.Ala3392=) c.9353C= (p.Ala3118=) n.12193C= c.12395C= (p.Ala4132=) c.12323C= (p.Ala4108=) c.12185C= (p.Ala4062=) c.10271C= (p.Ala3424=) | |
16 | g.2090454G>T | CA394325797 | PKD1 | c.12275C>A (p.Ala4092Glu) c.12272C>A (p.Ala4091Glu) n.303C>A c.9230C>A (p.Ala3077Glu) c.12353C>A (p.Ala4118Glu) c.12350C>A (p.Ala4117Glu) c.12335C>A (p.Ala4112Glu) c.12329C>A (p.Ala4110Glu) c.12326C>A (p.Ala4109Glu) c.12299C>A (p.Ala4100Glu) c.12281C>A (p.Ala4094Glu) c.12227C>A (p.Ala4076Glu) c.12146C>A (p.Ala4049Glu) c.12089C>A (p.Ala4030Glu) c.10175C>A (p.Ala3392Glu) c.9353C>A (p.Ala3118Glu) n.12193C>A c.12395C>A (p.Ala4132Glu) c.12323C>A (p.Ala4108Glu) c.12185C>A (p.Ala4062Glu) c.10271C>A (p.Ala3424Glu) | |
16 | g.2090455C>A | CA394325803 | PKD1 | c.12274G>T (p.Ala4092Ser) c.12271G>T (p.Ala4091Ser) n.302G>T c.9229G>T (p.Ala3077Ser) c.12352G>T (p.Ala4118Ser) c.12349G>T (p.Ala4117Ser) c.12334G>T (p.Ala4112Ser) c.12328G>T (p.Ala4110Ser) c.12325G>T (p.Ala4109Ser) c.12298G>T (p.Ala4100Ser) c.12280G>T (p.Ala4094Ser) c.12226G>T (p.Ala4076Ser) c.12145G>T (p.Ala4049Ser) c.12088G>T (p.Ala4030Ser) c.10174G>T (p.Ala3392Ser) c.9352G>T (p.Ala3118Ser) n.12192G>T c.12394G>T (p.Ala4132Ser) c.12322G>T (p.Ala4108Ser) c.12184G>T (p.Ala4062Ser) c.10270G>T (p.Ala3424Ser) | |
16 | g.2090455C= | CA2202041821 | PKD1 | c.12274G= (p.Ala4092=) c.12271G= (p.Ala4091=) n.302G= c.9229G= (p.Ala3077=) c.12352G= (p.Ala4118=) c.12349G= (p.Ala4117=) c.12334G= (p.Ala4112=) c.12328G= (p.Ala4110=) c.12325G= (p.Ala4109=) c.12298G= (p.Ala4100=) c.12280G= (p.Ala4094=) c.12226G= (p.Ala4076=) c.12145G= (p.Ala4049=) c.12088G= (p.Ala4030=) c.10174G= (p.Ala3392=) c.9352G= (p.Ala3118=) n.12192G= c.12394G= (p.Ala4132=) c.12322G= (p.Ala4108=) c.12184G= (p.Ala4062=) c.10270G= (p.Ala3424=) | |
16 | g.2090455C>G | CA394325810 | PKD1 | c.12274G>C (p.Ala4092Pro) c.12271G>C (p.Ala4091Pro) n.302G>C c.9229G>C (p.Ala3077Pro) c.12352G>C (p.Ala4118Pro) c.12349G>C (p.Ala4117Pro) c.12334G>C (p.Ala4112Pro) c.12328G>C (p.Ala4110Pro) c.12325G>C (p.Ala4109Pro) c.12298G>C (p.Ala4100Pro) c.12280G>C (p.Ala4094Pro) c.12226G>C (p.Ala4076Pro) c.12145G>C (p.Ala4049Pro) c.12088G>C (p.Ala4030Pro) c.10174G>C (p.Ala3392Pro) c.9352G>C (p.Ala3118Pro) n.12192G>C c.12394G>C (p.Ala4132Pro) c.12322G>C (p.Ala4108Pro) c.12184G>C (p.Ala4062Pro) c.10270G>C (p.Ala3424Pro) | |
16 | g.2090455C>T | CA394325813 | PKD1 | c.12274G>A (p.Ala4092Thr) c.12271G>A (p.Ala4091Thr) n.302G>A c.9229G>A (p.Ala3077Thr) c.12352G>A (p.Ala4118Thr) c.12349G>A (p.Ala4117Thr) c.12334G>A (p.Ala4112Thr) c.12328G>A (p.Ala4110Thr) c.12325G>A (p.Ala4109Thr) c.12298G>A (p.Ala4100Thr) c.12280G>A (p.Ala4094Thr) c.12226G>A (p.Ala4076Thr) c.12145G>A (p.Ala4049Thr) c.12088G>A (p.Ala4030Thr) c.10174G>A (p.Ala3392Thr) c.9352G>A (p.Ala3118Thr) n.12192G>A c.12394G>A (p.Ala4132Thr) c.12322G>A (p.Ala4108Thr) c.12184G>A (p.Ala4062Thr) c.10270G>A (p.Ala3424Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090456C>A | CA394325819 | PKD1 | c.12273G>T (p.Trp4091Cys) c.12270G>T (p.Trp4090Cys) n.301G>T c.9228G>T (p.Trp3076Cys) c.12351G>T (p.Trp4117Cys) c.12348G>T (p.Trp4116Cys) c.12333G>T (p.Trp4111Cys) c.12327G>T (p.Trp4109Cys) c.12324G>T (p.Trp4108Cys) c.12297G>T (p.Trp4099Cys) c.12279G>T (p.Trp4093Cys) c.12225G>T (p.Trp4075Cys) c.12144G>T (p.Trp4048Cys) c.12087G>T (p.Trp4029Cys) c.10173G>T (p.Trp3391Cys) c.9351G>T (p.Trp3117Cys) n.12191G>T c.12393G>T (p.Trp4131Cys) c.12321G>T (p.Trp4107Cys) c.12183G>T (p.Trp4061Cys) c.10269G>T (p.Trp3423Cys) | |
16 | g.2090456C>G | CA394325824 | PKD1 | c.12273G>C (p.Trp4091Cys) c.12270G>C (p.Trp4090Cys) n.301G>C c.9228G>C (p.Trp3076Cys) c.12351G>C (p.Trp4117Cys) c.12348G>C (p.Trp4116Cys) c.12333G>C (p.Trp4111Cys) c.12327G>C (p.Trp4109Cys) c.12324G>C (p.Trp4108Cys) c.12297G>C (p.Trp4099Cys) c.12279G>C (p.Trp4093Cys) c.12225G>C (p.Trp4075Cys) c.12144G>C (p.Trp4048Cys) c.12087G>C (p.Trp4029Cys) c.10173G>C (p.Trp3391Cys) c.9351G>C (p.Trp3117Cys) n.12191G>C c.12393G>C (p.Trp4131Cys) c.12321G>C (p.Trp4107Cys) c.12183G>C (p.Trp4061Cys) c.10269G>C (p.Trp3423Cys) | |
16 | g.2090456C>T | CA394325821 | PKD1 | c.12273G>A (p.Trp4091Ter) c.12270G>A (p.Trp4090Ter) n.301G>A c.9228G>A (p.Trp3076Ter) c.12351G>A (p.Trp4117Ter) c.12348G>A (p.Trp4116Ter) c.12333G>A (p.Trp4111Ter) c.12327G>A (p.Trp4109Ter) c.12324G>A (p.Trp4108Ter) c.12297G>A (p.Trp4099Ter) c.12279G>A (p.Trp4093Ter) c.12225G>A (p.Trp4075Ter) c.12144G>A (p.Trp4048Ter) c.12087G>A (p.Trp4029Ter) c.10173G>A (p.Trp3391Ter) c.9351G>A (p.Trp3117Ter) n.12191G>A c.12393G>A (p.Trp4131Ter) c.12321G>A (p.Trp4107Ter) c.12183G>A (p.Trp4061Ter) c.10269G>A (p.Trp3423Ter) | |
16 | g.2090457C>A | CA394325829 | PKD1 | c.12272G>T (p.Trp4091Leu) c.12269G>T (p.Trp4090Leu) n.300G>T c.9227G>T (p.Trp3076Leu) c.12350G>T (p.Trp4117Leu) c.12347G>T (p.Trp4116Leu) c.12332G>T (p.Trp4111Leu) c.12326G>T (p.Trp4109Leu) c.12323G>T (p.Trp4108Leu) c.12296G>T (p.Trp4099Leu) c.12278G>T (p.Trp4093Leu) c.12224G>T (p.Trp4075Leu) c.12143G>T (p.Trp4048Leu) c.12086G>T (p.Trp4029Leu) c.10172G>T (p.Trp3391Leu) c.9350G>T (p.Trp3117Leu) n.12190G>T c.12392G>T (p.Trp4131Leu) c.12320G>T (p.Trp4107Leu) c.12182G>T (p.Trp4061Leu) c.10268G>T (p.Trp3423Leu) | gnomAD v4 |
16 | g.2090457C>G | CA394325832 | PKD1 | c.12272G>C (p.Trp4091Ser) c.12269G>C (p.Trp4090Ser) n.300G>C c.9227G>C (p.Trp3076Ser) c.12350G>C (p.Trp4117Ser) c.12347G>C (p.Trp4116Ser) c.12332G>C (p.Trp4111Ser) c.12326G>C (p.Trp4109Ser) c.12323G>C (p.Trp4108Ser) c.12296G>C (p.Trp4099Ser) c.12278G>C (p.Trp4093Ser) c.12224G>C (p.Trp4075Ser) c.12143G>C (p.Trp4048Ser) c.12086G>C (p.Trp4029Ser) c.10172G>C (p.Trp3391Ser) c.9350G>C (p.Trp3117Ser) n.12190G>C c.12392G>C (p.Trp4131Ser) c.12320G>C (p.Trp4107Ser) c.12182G>C (p.Trp4061Ser) c.10268G>C (p.Trp3423Ser) | |
16 | g.2090457C>T | CA394325837 | PKD1 | c.12272G>A (p.Trp4091Ter) c.12269G>A (p.Trp4090Ter) n.300G>A c.9227G>A (p.Trp3076Ter) c.12350G>A (p.Trp4117Ter) c.12347G>A (p.Trp4116Ter) c.12332G>A (p.Trp4111Ter) c.12326G>A (p.Trp4109Ter) c.12323G>A (p.Trp4108Ter) c.12296G>A (p.Trp4099Ter) c.12278G>A (p.Trp4093Ter) c.12224G>A (p.Trp4075Ter) c.12143G>A (p.Trp4048Ter) c.12086G>A (p.Trp4029Ter) c.10172G>A (p.Trp3391Ter) c.9350G>A (p.Trp3117Ter) n.12190G>A c.12392G>A (p.Trp4131Ter) c.12320G>A (p.Trp4107Ter) c.12182G>A (p.Trp4061Ter) c.10268G>A (p.Trp3423Ter) | |
16 | g.2090458A>C | CA394325843 | PKD1 | c.12271T>G (p.Trp4091Gly) c.12268T>G (p.Trp4090Gly) n.299T>G c.9226T>G (p.Trp3076Gly) c.12349T>G (p.Trp4117Gly) c.12346T>G (p.Trp4116Gly) c.12331T>G (p.Trp4111Gly) c.12325T>G (p.Trp4109Gly) c.12322T>G (p.Trp4108Gly) c.12295T>G (p.Trp4099Gly) c.12277T>G (p.Trp4093Gly) c.12223T>G (p.Trp4075Gly) c.12142T>G (p.Trp4048Gly) c.12085T>G (p.Trp4029Gly) c.10171T>G (p.Trp3391Gly) c.9349T>G (p.Trp3117Gly) n.12189T>G c.12391T>G (p.Trp4131Gly) c.12319T>G (p.Trp4107Gly) c.12181T>G (p.Trp4061Gly) c.10267T>G (p.Trp3423Gly) | |
16 | g.2090458A>G | CA394325855 | PKD1 | c.12271T>C (p.Trp4091Arg) c.12268T>C (p.Trp4090Arg) n.299T>C c.9226T>C (p.Trp3076Arg) c.12349T>C (p.Trp4117Arg) c.12346T>C (p.Trp4116Arg) c.12331T>C (p.Trp4111Arg) c.12325T>C (p.Trp4109Arg) c.12322T>C (p.Trp4108Arg) c.12295T>C (p.Trp4099Arg) c.12277T>C (p.Trp4093Arg) c.12223T>C (p.Trp4075Arg) c.12142T>C (p.Trp4048Arg) c.12085T>C (p.Trp4029Arg) c.10171T>C (p.Trp3391Arg) c.9349T>C (p.Trp3117Arg) n.12189T>C c.12391T>C (p.Trp4131Arg) c.12319T>C (p.Trp4107Arg) c.12181T>C (p.Trp4061Arg) c.10267T>C (p.Trp3423Arg) | gnomAD v4 |
16 | g.2090458A>T | CA394325859 | PKD1 | c.12271T>A (p.Trp4091Arg) c.12268T>A (p.Trp4090Arg) n.299T>A c.9226T>A (p.Trp3076Arg) c.12349T>A (p.Trp4117Arg) c.12346T>A (p.Trp4116Arg) c.12331T>A (p.Trp4111Arg) c.12325T>A (p.Trp4109Arg) c.12322T>A (p.Trp4108Arg) c.12295T>A (p.Trp4099Arg) c.12277T>A (p.Trp4093Arg) c.12223T>A (p.Trp4075Arg) c.12142T>A (p.Trp4048Arg) c.12085T>A (p.Trp4029Arg) c.10171T>A (p.Trp3391Arg) c.9349T>A (p.Trp3117Arg) n.12189T>A c.12391T>A (p.Trp4131Arg) c.12319T>A (p.Trp4107Arg) c.12181T>A (p.Trp4061Arg) c.10267T>A (p.Trp3423Arg) | |
16 | g.2090459G>A | CA276764121 | PKD1 | c.12270C>T (p.Leu4090=) c.12267C>T (p.Leu4089=) n.298C>T c.9225C>T (p.Leu3075=) c.12348C>T (p.Leu4116=) c.12345C>T (p.Leu4115=) c.12330C>T (p.Leu4110=) c.12324C>T (p.Leu4108=) c.12321C>T (p.Leu4107=) c.12294C>T (p.Leu4098=) c.12276C>T (p.Leu4092=) c.12222C>T (p.Leu4074=) c.12141C>T (p.Leu4047=) c.12084C>T (p.Leu4028=) c.10170C>T (p.Leu3390=) c.9348C>T (p.Leu3116=) n.12188C>T c.12390C>T (p.Leu4130=) c.12318C>T (p.Leu4106=) c.12180C>T (p.Leu4060=) c.10266C>T (p.Leu3422=) | dbSNP gnomAD v4 |
16 | g.2090459G>C | CA7828702 | PKD1 | c.12270C>G (p.Leu4090=) c.12267C>G (p.Leu4089=) n.298C>G c.9225C>G (p.Leu3075=) c.12348C>G (p.Leu4116=) c.12345C>G (p.Leu4115=) c.12330C>G (p.Leu4110=) c.12324C>G (p.Leu4108=) c.12321C>G (p.Leu4107=) c.12294C>G (p.Leu4098=) c.12276C>G (p.Leu4092=) c.12222C>G (p.Leu4074=) c.12141C>G (p.Leu4047=) c.12084C>G (p.Leu4028=) c.10170C>G (p.Leu3390=) c.9348C>G (p.Leu3116=) n.12188C>G c.12390C>G (p.Leu4130=) c.12318C>G (p.Leu4106=) c.12180C>G (p.Leu4060=) c.10266C>G (p.Leu3422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090459G= | CA2202041824 | PKD1 | c.12270C= (p.Leu4090=) c.12267C= (p.Leu4089=) n.298C= c.9225C= (p.Leu3075=) c.12348C= (p.Leu4116=) c.12345C= (p.Leu4115=) c.12330C= (p.Leu4110=) c.12324C= (p.Leu4108=) c.12321C= (p.Leu4107=) c.12294C= (p.Leu4098=) c.12276C= (p.Leu4092=) c.12222C= (p.Leu4074=) c.12141C= (p.Leu4047=) c.12084C= (p.Leu4028=) c.10170C= (p.Leu3390=) c.9348C= (p.Leu3116=) n.12188C= c.12390C= (p.Leu4130=) c.12318C= (p.Leu4106=) c.12180C= (p.Leu4060=) c.10266C= (p.Leu3422=) | |
16 | g.2090459G>T | CA493044525 | PKD1 | c.12270C>A (p.Leu4090=) c.12267C>A (p.Leu4089=) n.298C>A c.9225C>A (p.Leu3075=) c.12348C>A (p.Leu4116=) c.12345C>A (p.Leu4115=) c.12330C>A (p.Leu4110=) c.12324C>A (p.Leu4108=) c.12321C>A (p.Leu4107=) c.12294C>A (p.Leu4098=) c.12276C>A (p.Leu4092=) c.12222C>A (p.Leu4074=) c.12141C>A (p.Leu4047=) c.12084C>A (p.Leu4028=) c.10170C>A (p.Leu3390=) c.9348C>A (p.Leu3116=) n.12188C>A c.12390C>A (p.Leu4130=) c.12318C>A (p.Leu4106=) c.12180C>A (p.Leu4060=) c.10266C>A (p.Leu3422=) | |
16 | g.2090460A= | CA2202041828 | PKD1 | c.12269T= (p.Leu4090=) c.12266T= (p.Leu4089=) n.297T= c.9224T= (p.Leu3075=) c.12347T= (p.Leu4116=) c.12344T= (p.Leu4115=) c.12329T= (p.Leu4110=) c.12323T= (p.Leu4108=) c.12320T= (p.Leu4107=) c.12293T= (p.Leu4098=) c.12275T= (p.Leu4092=) c.12221T= (p.Leu4074=) c.12140T= (p.Leu4047=) c.12083T= (p.Leu4028=) c.10169T= (p.Leu3390=) c.9347T= (p.Leu3116=) n.12187T= c.12389T= (p.Leu4130=) c.12317T= (p.Leu4106=) c.12179T= (p.Leu4060=) c.10265T= (p.Leu3422=) | |
16 | g.2090460A>C | CA394325868 | PKD1 | c.12269T>G (p.Leu4090Arg) c.12266T>G (p.Leu4089Arg) n.297T>G c.9224T>G (p.Leu3075Arg) c.12347T>G (p.Leu4116Arg) c.12344T>G (p.Leu4115Arg) c.12329T>G (p.Leu4110Arg) c.12323T>G (p.Leu4108Arg) c.12320T>G (p.Leu4107Arg) c.12293T>G (p.Leu4098Arg) c.12275T>G (p.Leu4092Arg) c.12221T>G (p.Leu4074Arg) c.12140T>G (p.Leu4047Arg) c.12083T>G (p.Leu4028Arg) c.10169T>G (p.Leu3390Arg) c.9347T>G (p.Leu3116Arg) n.12187T>G c.12389T>G (p.Leu4130Arg) c.12317T>G (p.Leu4106Arg) c.12179T>G (p.Leu4060Arg) c.10265T>G (p.Leu3422Arg) | |
16 | g.2090460A>G | CA394325870 | PKD1 | c.12269T>C (p.Leu4090Pro) c.12266T>C (p.Leu4089Pro) n.297T>C c.9224T>C (p.Leu3075Pro) c.12347T>C (p.Leu4116Pro) c.12344T>C (p.Leu4115Pro) c.12329T>C (p.Leu4110Pro) c.12323T>C (p.Leu4108Pro) c.12320T>C (p.Leu4107Pro) c.12293T>C (p.Leu4098Pro) c.12275T>C (p.Leu4092Pro) c.12221T>C (p.Leu4074Pro) c.12140T>C (p.Leu4047Pro) c.12083T>C (p.Leu4028Pro) c.10169T>C (p.Leu3390Pro) c.9347T>C (p.Leu3116Pro) n.12187T>C c.12389T>C (p.Leu4130Pro) c.12317T>C (p.Leu4106Pro) c.12179T>C (p.Leu4060Pro) c.10265T>C (p.Leu3422Pro) | |
16 | g.2090460A>T | CA7828703 | PKD1 | c.12269T>A (p.Leu4090His) c.12266T>A (p.Leu4089His) n.297T>A c.9224T>A (p.Leu3075His) c.12347T>A (p.Leu4116His) c.12344T>A (p.Leu4115His) c.12329T>A (p.Leu4110His) c.12323T>A (p.Leu4108His) c.12320T>A (p.Leu4107His) c.12293T>A (p.Leu4098His) c.12275T>A (p.Leu4092His) c.12221T>A (p.Leu4074His) c.12140T>A (p.Leu4047His) c.12083T>A (p.Leu4028His) c.10169T>A (p.Leu3390His) c.9347T>A (p.Leu3116His) n.12187T>A c.12389T>A (p.Leu4130His) c.12317T>A (p.Leu4106His) c.12179T>A (p.Leu4060His) c.10265T>A (p.Leu3422His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090461G>A | CA394325879 | PKD1 | c.12268C>T (p.Leu4090Phe) c.12265C>T (p.Leu4089Phe) n.296C>T c.9223C>T (p.Leu3075Phe) c.12346C>T (p.Leu4116Phe) c.12343C>T (p.Leu4115Phe) c.12328C>T (p.Leu4110Phe) c.12322C>T (p.Leu4108Phe) c.12319C>T (p.Leu4107Phe) c.12292C>T (p.Leu4098Phe) c.12274C>T (p.Leu4092Phe) c.12220C>T (p.Leu4074Phe) c.12139C>T (p.Leu4047Phe) c.12082C>T (p.Leu4028Phe) c.10168C>T (p.Leu3390Phe) c.9346C>T (p.Leu3116Phe) n.12186C>T c.12388C>T (p.Leu4130Phe) c.12316C>T (p.Leu4106Phe) c.12178C>T (p.Leu4060Phe) c.10264C>T (p.Leu3422Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090461G>C | CA394325880 | PKD1 | c.12268C>G (p.Leu4090Val) c.12265C>G (p.Leu4089Val) n.296C>G c.9223C>G (p.Leu3075Val) c.12346C>G (p.Leu4116Val) c.12343C>G (p.Leu4115Val) c.12328C>G (p.Leu4110Val) c.12322C>G (p.Leu4108Val) c.12319C>G (p.Leu4107Val) c.12292C>G (p.Leu4098Val) c.12274C>G (p.Leu4092Val) c.12220C>G (p.Leu4074Val) c.12139C>G (p.Leu4047Val) c.12082C>G (p.Leu4028Val) c.10168C>G (p.Leu3390Val) c.9346C>G (p.Leu3116Val) n.12186C>G c.12388C>G (p.Leu4130Val) c.12316C>G (p.Leu4106Val) c.12178C>G (p.Leu4060Val) c.10264C>G (p.Leu3422Val) | |
16 | g.2090461G= | CA2202041830 | PKD1 | c.12268C= (p.Leu4090=) c.12265C= (p.Leu4089=) n.296C= c.9223C= (p.Leu3075=) c.12346C= (p.Leu4116=) c.12343C= (p.Leu4115=) c.12328C= (p.Leu4110=) c.12322C= (p.Leu4108=) c.12319C= (p.Leu4107=) c.12292C= (p.Leu4098=) c.12274C= (p.Leu4092=) c.12220C= (p.Leu4074=) c.12139C= (p.Leu4047=) c.12082C= (p.Leu4028=) c.10168C= (p.Leu3390=) c.9346C= (p.Leu3116=) n.12186C= c.12388C= (p.Leu4130=) c.12316C= (p.Leu4106=) c.12178C= (p.Leu4060=) c.10264C= (p.Leu3422=) | |
16 | g.2090461G>T | CA394325876 | PKD1 | c.12268C>A (p.Leu4090Ile) c.12265C>A (p.Leu4089Ile) n.296C>A c.9223C>A (p.Leu3075Ile) c.12346C>A (p.Leu4116Ile) c.12343C>A (p.Leu4115Ile) c.12328C>A (p.Leu4110Ile) c.12322C>A (p.Leu4108Ile) c.12319C>A (p.Leu4107Ile) c.12292C>A (p.Leu4098Ile) c.12274C>A (p.Leu4092Ile) c.12220C>A (p.Leu4074Ile) c.12139C>A (p.Leu4047Ile) c.12082C>A (p.Leu4028Ile) c.10168C>A (p.Leu3390Ile) c.9346C>A (p.Leu3116Ile) n.12186C>A c.12388C>A (p.Leu4130Ile) c.12316C>A (p.Leu4106Ile) c.12178C>A (p.Leu4060Ile) c.10264C>A (p.Leu3422Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090462C>A | CA493044535 | PKD1 | c.12267G>T (p.Gly4089=) c.12264G>T (p.Gly4088=) n.295G>T c.9222G>T (p.Gly3074=) c.12345G>T (p.Gly4115=) c.12342G>T (p.Gly4114=) c.12327G>T (p.Gly4109=) c.12321G>T (p.Gly4107=) c.12318G>T (p.Gly4106=) c.12291G>T (p.Gly4097=) c.12273G>T (p.Gly4091=) c.12219G>T (p.Gly4073=) c.12138G>T (p.Gly4046=) c.12081G>T (p.Gly4027=) c.10167G>T (p.Gly3389=) c.9345G>T (p.Gly3115=) n.12185G>T c.12387G>T (p.Gly4129=) c.12315G>T (p.Gly4105=) c.12177G>T (p.Gly4059=) c.10263G>T (p.Gly3421=) | gnomAD v4 |
16 | g.2090462C= | CA2202041833 | PKD1 | c.12267G= (p.Gly4089=) c.12264G= (p.Gly4088=) n.295G= c.9222G= (p.Gly3074=) c.12345G= (p.Gly4115=) c.12342G= (p.Gly4114=) c.12327G= (p.Gly4109=) c.12321G= (p.Gly4107=) c.12318G= (p.Gly4106=) c.12291G= (p.Gly4097=) c.12273G= (p.Gly4091=) c.12219G= (p.Gly4073=) c.12138G= (p.Gly4046=) c.12081G= (p.Gly4027=) c.10167G= (p.Gly3389=) c.9345G= (p.Gly3115=) n.12185G= c.12387G= (p.Gly4129=) c.12315G= (p.Gly4105=) c.12177G= (p.Gly4059=) c.10263G= (p.Gly3421=) | |
16 | g.2090462C>G | CA493044536 | PKD1 | c.12267G>C (p.Gly4089=) c.12264G>C (p.Gly4088=) n.295G>C c.9222G>C (p.Gly3074=) c.12345G>C (p.Gly4115=) c.12342G>C (p.Gly4114=) c.12327G>C (p.Gly4109=) c.12321G>C (p.Gly4107=) c.12318G>C (p.Gly4106=) c.12291G>C (p.Gly4097=) c.12273G>C (p.Gly4091=) c.12219G>C (p.Gly4073=) c.12138G>C (p.Gly4046=) c.12081G>C (p.Gly4027=) c.10167G>C (p.Gly3389=) c.9345G>C (p.Gly3115=) n.12185G>C c.12387G>C (p.Gly4129=) c.12315G>C (p.Gly4105=) c.12177G>C (p.Gly4059=) c.10263G>C (p.Gly3421=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090462C>T | CA493044539 | PKD1 | c.12267G>A (p.Gly4089=) c.12264G>A (p.Gly4088=) n.295G>A c.9222G>A (p.Gly3074=) c.12345G>A (p.Gly4115=) c.12342G>A (p.Gly4114=) c.12327G>A (p.Gly4109=) c.12321G>A (p.Gly4107=) c.12318G>A (p.Gly4106=) c.12291G>A (p.Gly4097=) c.12273G>A (p.Gly4091=) c.12219G>A (p.Gly4073=) c.12138G>A (p.Gly4046=) c.12081G>A (p.Gly4027=) c.10167G>A (p.Gly3389=) c.9345G>A (p.Gly3115=) n.12185G>A c.12387G>A (p.Gly4129=) c.12315G>A (p.Gly4105=) c.12177G>A (p.Gly4059=) c.10263G>A (p.Gly3421=) | gnomAD v4 |
16 | g.2090465del | CA2580612737 | PKD1 | c.12267del (p.Leu4090SerfsTer?) c.12264del (p.Leu4089SerfsTer?) n.295del c.9222del (p.Leu3075SerfsTer?) c.12345del (p.Leu4116SerfsTer?) c.12342del (p.Leu4115SerfsTer?) c.12327del (p.Leu4110SerfsTer?) c.12321del (p.Leu4108SerfsTer?) c.12318del (p.Leu4107SerfsTer?) c.12291del (p.Leu4098SerfsTer?) c.12273del (p.Leu4092SerfsTer?) c.12219del (p.Leu4074SerfsTer?) c.12138del (p.Leu4047SerfsTer?) c.12081del (p.Leu4028SerfsTer?) c.10167del (p.Leu3390SerfsTer?) c.9345del (p.Leu3116SerfsTer?) n.12185del c.12387del (p.Leu4130SerfsTer?) c.12315del (p.Leu4106SerfsTer?) c.12177del (p.Leu4060SerfsTer?) c.10263del (p.Leu3422SerfsTer?) | ClinVar |
16 | g.2090464_2090465del | CA2695221539 | PKD1 | c.12266_12267del (p.Gly4089AlafsTer?) c.12263_12264del (p.Gly4088AlafsTer?) n.294_295del c.9221_9222del (p.Gly3074AlafsTer?) c.12344_12345del (p.Gly4115AlafsTer?) c.12341_12342del (p.Gly4114AlafsTer?) c.12326_12327del (p.Gly4109AlafsTer?) c.12320_12321del (p.Gly4107AlafsTer?) c.12317_12318del (p.Gly4106AlafsTer?) c.12290_12291del (p.Gly4097AlafsTer?) c.12272_12273del (p.Gly4091AlafsTer?) c.12218_12219del (p.Gly4073AlafsTer?) c.12137_12138del (p.Gly4046AlafsTer?) c.12080_12081del (p.Gly4027AlafsTer?) c.10166_10167del (p.Gly3389AlafsTer?) c.9344_9345del (p.Gly3115AlafsTer?) n.12184_12185del c.12386_12387del (p.Gly4129AlafsTer?) c.12314_12315del (p.Gly4105AlafsTer?) c.12176_12177del (p.Gly4059AlafsTer?) c.10262_10263del (p.Gly3421AlafsTer?) | |
16 | g.2090463C>A | CA394325883 | PKD1 | c.12266G>T (p.Gly4089Val) c.12263G>T (p.Gly4088Val) n.294G>T c.9221G>T (p.Gly3074Val) c.12344G>T (p.Gly4115Val) c.12341G>T (p.Gly4114Val) c.12326G>T (p.Gly4109Val) c.12320G>T (p.Gly4107Val) c.12317G>T (p.Gly4106Val) c.12290G>T (p.Gly4097Val) c.12272G>T (p.Gly4091Val) c.12218G>T (p.Gly4073Val) c.12137G>T (p.Gly4046Val) c.12080G>T (p.Gly4027Val) c.10166G>T (p.Gly3389Val) c.9344G>T (p.Gly3115Val) n.12184G>T c.12386G>T (p.Gly4129Val) c.12314G>T (p.Gly4105Val) c.12176G>T (p.Gly4059Val) c.10262G>T (p.Gly3421Val) | |
16 | g.2090463C>G | CA394325891 | PKD1 | c.12266G>C (p.Gly4089Ala) c.12263G>C (p.Gly4088Ala) n.294G>C c.9221G>C (p.Gly3074Ala) c.12344G>C (p.Gly4115Ala) c.12341G>C (p.Gly4114Ala) c.12326G>C (p.Gly4109Ala) c.12320G>C (p.Gly4107Ala) c.12317G>C (p.Gly4106Ala) c.12290G>C (p.Gly4097Ala) c.12272G>C (p.Gly4091Ala) c.12218G>C (p.Gly4073Ala) c.12137G>C (p.Gly4046Ala) c.12080G>C (p.Gly4027Ala) c.10166G>C (p.Gly3389Ala) c.9344G>C (p.Gly3115Ala) n.12184G>C c.12386G>C (p.Gly4129Ala) c.12314G>C (p.Gly4105Ala) c.12176G>C (p.Gly4059Ala) c.10262G>C (p.Gly3421Ala) | |
16 | g.2090463C>T | CA394325894 | PKD1 | c.12266G>A (p.Gly4089Glu) c.12263G>A (p.Gly4088Glu) n.294G>A c.9221G>A (p.Gly3074Glu) c.12344G>A (p.Gly4115Glu) c.12341G>A (p.Gly4114Glu) c.12326G>A (p.Gly4109Glu) c.12320G>A (p.Gly4107Glu) c.12317G>A (p.Gly4106Glu) c.12290G>A (p.Gly4097Glu) c.12272G>A (p.Gly4091Glu) c.12218G>A (p.Gly4073Glu) c.12137G>A (p.Gly4046Glu) c.12080G>A (p.Gly4027Glu) c.10166G>A (p.Gly3389Glu) c.9344G>A (p.Gly3115Glu) n.12184G>A c.12386G>A (p.Gly4129Glu) c.12314G>A (p.Gly4105Glu) c.12176G>A (p.Gly4059Glu) c.10262G>A (p.Gly3421Glu) | |
16 | g.2090464C>A | CA394325898 | PKD1 | c.12265G>T (p.Gly4089Trp) c.12262G>T (p.Gly4088Trp) n.293G>T c.9220G>T (p.Gly3074Trp) c.12343G>T (p.Gly4115Trp) c.12340G>T (p.Gly4114Trp) c.12325G>T (p.Gly4109Trp) c.12319G>T (p.Gly4107Trp) c.12316G>T (p.Gly4106Trp) c.12289G>T (p.Gly4097Trp) c.12271G>T (p.Gly4091Trp) c.12217G>T (p.Gly4073Trp) c.12136G>T (p.Gly4046Trp) c.12079G>T (p.Gly4027Trp) c.10165G>T (p.Gly3389Trp) c.9343G>T (p.Gly3115Trp) n.12183G>T c.12385G>T (p.Gly4129Trp) c.12313G>T (p.Gly4105Trp) c.12175G>T (p.Gly4059Trp) c.10261G>T (p.Gly3421Trp) | |
16 | g.2090464C>G | CA394325899 | PKD1 | c.12265G>C (p.Gly4089Arg) c.12262G>C (p.Gly4088Arg) n.293G>C c.9220G>C (p.Gly3074Arg) c.12343G>C (p.Gly4115Arg) c.12340G>C (p.Gly4114Arg) c.12325G>C (p.Gly4109Arg) c.12319G>C (p.Gly4107Arg) c.12316G>C (p.Gly4106Arg) c.12289G>C (p.Gly4097Arg) c.12271G>C (p.Gly4091Arg) c.12217G>C (p.Gly4073Arg) c.12136G>C (p.Gly4046Arg) c.12079G>C (p.Gly4027Arg) c.10165G>C (p.Gly3389Arg) c.9343G>C (p.Gly3115Arg) n.12183G>C c.12385G>C (p.Gly4129Arg) c.12313G>C (p.Gly4105Arg) c.12175G>C (p.Gly4059Arg) c.10261G>C (p.Gly3421Arg) | |
16 | g.2090464C>T | CA394325900 | PKD1 | c.12265G>A (p.Gly4089Arg) c.12262G>A (p.Gly4088Arg) n.293G>A c.9220G>A (p.Gly3074Arg) c.12343G>A (p.Gly4115Arg) c.12340G>A (p.Gly4114Arg) c.12325G>A (p.Gly4109Arg) c.12319G>A (p.Gly4107Arg) c.12316G>A (p.Gly4106Arg) c.12289G>A (p.Gly4097Arg) c.12271G>A (p.Gly4091Arg) c.12217G>A (p.Gly4073Arg) c.12136G>A (p.Gly4046Arg) c.12079G>A (p.Gly4027Arg) c.10165G>A (p.Gly3389Arg) c.9343G>A (p.Gly3115Arg) n.12183G>A c.12385G>A (p.Gly4129Arg) c.12313G>A (p.Gly4105Arg) c.12175G>A (p.Gly4059Arg) c.10261G>A (p.Gly3421Arg) | gnomAD v4 |
16 | g.2090465C>A | CA493044548 | PKD1 | c.12264G>T (p.Val4088=) c.12261G>T (p.Val4087=) n.292G>T c.9219G>T (p.Val3073=) c.12342G>T (p.Val4114=) c.12339G>T (p.Val4113=) c.12324G>T (p.Val4108=) c.12318G>T (p.Val4106=) c.12315G>T (p.Val4105=) c.12288G>T (p.Val4096=) c.12270G>T (p.Val4090=) c.12216G>T (p.Val4072=) c.12135G>T (p.Val4045=) c.12078G>T (p.Val4026=) c.10164G>T (p.Val3388=) c.9342G>T (p.Val3114=) n.12182G>T c.12384G>T (p.Val4128=) c.12312G>T (p.Val4104=) c.12174G>T (p.Val4058=) c.10260G>T (p.Val3420=) | |
16 | g.2090465C>G | CA493044551 | PKD1 | c.12264G>C (p.Val4088=) c.12261G>C (p.Val4087=) n.292G>C c.9219G>C (p.Val3073=) c.12342G>C (p.Val4114=) c.12339G>C (p.Val4113=) c.12324G>C (p.Val4108=) c.12318G>C (p.Val4106=) c.12315G>C (p.Val4105=) c.12288G>C (p.Val4096=) c.12270G>C (p.Val4090=) c.12216G>C (p.Val4072=) c.12135G>C (p.Val4045=) c.12078G>C (p.Val4026=) c.10164G>C (p.Val3388=) c.9342G>C (p.Val3114=) n.12182G>C c.12384G>C (p.Val4128=) c.12312G>C (p.Val4104=) c.12174G>C (p.Val4058=) c.10260G>C (p.Val3420=) | |
16 | g.2090465C>T | CA493044554 | PKD1 | c.12264G>A (p.Val4088=) c.12261G>A (p.Val4087=) n.292G>A c.9219G>A (p.Val3073=) c.12342G>A (p.Val4114=) c.12339G>A (p.Val4113=) c.12324G>A (p.Val4108=) c.12318G>A (p.Val4106=) c.12315G>A (p.Val4105=) c.12288G>A (p.Val4096=) c.12270G>A (p.Val4090=) c.12216G>A (p.Val4072=) c.12135G>A (p.Val4045=) c.12078G>A (p.Val4026=) c.10164G>A (p.Val3388=) c.9342G>A (p.Val3114=) n.12182G>A c.12384G>A (p.Val4128=) c.12312G>A (p.Val4104=) c.12174G>A (p.Val4058=) c.10260G>A (p.Val3420=) | |
16 | g.2090471_2090472del | CA2739290708 | PKD1 | c.12263_12264del (p.Val4088GlyfsTer?) c.12260_12261del (p.Val4087GlyfsTer?) n.291_292del c.9218_9219del (p.Val3073GlyfsTer?) c.12341_12342del (p.Val4114GlyfsTer?) c.12338_12339del (p.Val4113GlyfsTer?) c.12323_12324del (p.Val4108GlyfsTer?) c.12317_12318del (p.Val4106GlyfsTer?) c.12314_12315del (p.Val4105GlyfsTer?) c.12287_12288del (p.Val4096GlyfsTer?) c.12269_12270del (p.Val4090GlyfsTer?) c.12215_12216del (p.Val4072GlyfsTer?) c.12134_12135del (p.Val4045GlyfsTer?) c.12077_12078del (p.Val4026GlyfsTer?) c.10163_10164del (p.Val3388GlyfsTer?) c.9341_9342del (p.Val3114GlyfsTer?) n.12181_12182del c.12383_12384del (p.Val4128GlyfsTer?) c.12311_12312del (p.Val4104GlyfsTer?) c.12173_12174del (p.Val4058GlyfsTer?) c.10259_10260del (p.Val3420GlyfsTer?) | |
16 | g.2090469_2090472del | CA2631135296 | PKD1 | c.12261_12264del (p.Cys4087TrpfsTer?) c.12258_12261del (p.Cys4086TrpfsTer?) n.289_292del c.9216_9219del (p.Cys3072TrpfsTer?) c.12339_12342del (p.Cys4113TrpfsTer?) c.12336_12339del (p.Cys4112TrpfsTer?) c.12321_12324del (p.Cys4107TrpfsTer?) c.12315_12318del (p.Cys4105TrpfsTer?) c.12312_12315del (p.Cys4104TrpfsTer?) c.12285_12288del (p.Cys4095TrpfsTer?) c.12267_12270del (p.Cys4089TrpfsTer?) c.12213_12216del (p.Cys4071TrpfsTer?) c.12132_12135del (p.Cys4044TrpfsTer?) c.12075_12078del (p.Cys4025TrpfsTer?) c.10161_10164del (p.Cys3387TrpfsTer?) c.9339_9342del (p.Cys3113TrpfsTer?) n.12179_12182del c.12381_12384del (p.Cys4127TrpfsTer?) c.12309_12312del (p.Cys4103TrpfsTer?) c.12171_12174del (p.Cys4057TrpfsTer?) c.10257_10260del (p.Cys3419TrpfsTer?) | gnomAD v4 |
16 | g.2090466A= | CA2202041836 | PKD1 | c.12263T= (p.Val4088=) c.12260T= (p.Val4087=) n.291T= c.9218T= (p.Val3073=) c.12341T= (p.Val4114=) c.12338T= (p.Val4113=) c.12323T= (p.Val4108=) c.12317T= (p.Val4106=) c.12314T= (p.Val4105=) c.12287T= (p.Val4096=) c.12269T= (p.Val4090=) c.12215T= (p.Val4072=) c.12134T= (p.Val4045=) c.12077T= (p.Val4026=) c.10163T= (p.Val3388=) c.9341T= (p.Val3114=) n.12181T= c.12383T= (p.Val4128=) c.12311T= (p.Val4104=) c.12173T= (p.Val4058=) c.10259T= (p.Val3420=) | |
16 | g.2090466A>C | CA394325908 | PKD1 | c.12263T>G (p.Val4088Gly) c.12260T>G (p.Val4087Gly) n.291T>G c.9218T>G (p.Val3073Gly) c.12341T>G (p.Val4114Gly) c.12338T>G (p.Val4113Gly) c.12323T>G (p.Val4108Gly) c.12317T>G (p.Val4106Gly) c.12314T>G (p.Val4105Gly) c.12287T>G (p.Val4096Gly) c.12269T>G (p.Val4090Gly) c.12215T>G (p.Val4072Gly) c.12134T>G (p.Val4045Gly) c.12077T>G (p.Val4026Gly) c.10163T>G (p.Val3388Gly) c.9341T>G (p.Val3114Gly) n.12181T>G c.12383T>G (p.Val4128Gly) c.12311T>G (p.Val4104Gly) c.12173T>G (p.Val4058Gly) c.10259T>G (p.Val3420Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090466A>G | CA394325903 | PKD1 | c.12263T>C (p.Val4088Ala) c.12260T>C (p.Val4087Ala) n.291T>C c.9218T>C (p.Val3073Ala) c.12341T>C (p.Val4114Ala) c.12338T>C (p.Val4113Ala) c.12323T>C (p.Val4108Ala) c.12317T>C (p.Val4106Ala) c.12314T>C (p.Val4105Ala) c.12287T>C (p.Val4096Ala) c.12269T>C (p.Val4090Ala) c.12215T>C (p.Val4072Ala) c.12134T>C (p.Val4045Ala) c.12077T>C (p.Val4026Ala) c.10163T>C (p.Val3388Ala) c.9341T>C (p.Val3114Ala) n.12181T>C c.12383T>C (p.Val4128Ala) c.12311T>C (p.Val4104Ala) c.12173T>C (p.Val4058Ala) c.10259T>C (p.Val3420Ala) | |
16 | g.2090466A>T | CA394325905 | PKD1 | c.12263T>A (p.Val4088Glu) c.12260T>A (p.Val4087Glu) n.291T>A c.9218T>A (p.Val3073Glu) c.12341T>A (p.Val4114Glu) c.12338T>A (p.Val4113Glu) c.12323T>A (p.Val4108Glu) c.12317T>A (p.Val4106Glu) c.12314T>A (p.Val4105Glu) c.12287T>A (p.Val4096Glu) c.12269T>A (p.Val4090Glu) c.12215T>A (p.Val4072Glu) c.12134T>A (p.Val4045Glu) c.12077T>A (p.Val4026Glu) c.10163T>A (p.Val3388Glu) c.9341T>A (p.Val3114Glu) n.12181T>A c.12383T>A (p.Val4128Glu) c.12311T>A (p.Val4104Glu) c.12173T>A (p.Val4058Glu) c.10259T>A (p.Val3420Glu) | |
16 | g.2090466dup | CA2841530047 | PKD1 | c.12263dup (p.Leu4090AlafsTer?) c.12260dup (p.Leu4089AlafsTer?) n.291dup c.9218dup (p.Leu3075AlafsTer?) c.12341dup (p.Leu4116AlafsTer?) c.12338dup (p.Leu4115AlafsTer?) c.12323dup (p.Leu4110AlafsTer?) c.12317dup (p.Leu4108AlafsTer?) c.12314dup (p.Leu4107AlafsTer?) c.12287dup (p.Leu4098AlafsTer?) c.12269dup (p.Leu4092AlafsTer?) c.12215dup (p.Leu4074AlafsTer?) c.12134dup (p.Leu4047AlafsTer?) c.12077dup (p.Leu4028AlafsTer?) c.10163dup (p.Leu3390AlafsTer?) c.9341dup (p.Leu3116AlafsTer?) n.12181dup c.12383dup (p.Leu4130AlafsTer?) c.12311dup (p.Leu4106AlafsTer?) c.12173dup (p.Leu4060AlafsTer?) c.10259dup (p.Leu3422AlafsTer?) | |
16 | g.2090466_2090467insT | CA2695221543 | PKD1 | c.12262_12263insA (p.Val4088AspfsTer?) c.12259_12260insA (p.Val4087AspfsTer?) n.290_291insA c.9217_9218insA (p.Val3073AspfsTer?) c.12340_12341insA (p.Val4114AspfsTer?) c.12337_12338insA (p.Val4113AspfsTer?) c.12322_12323insA (p.Val4108AspfsTer?) c.12316_12317insA (p.Val4106AspfsTer?) c.12313_12314insA (p.Val4105AspfsTer?) c.12286_12287insA (p.Val4096AspfsTer?) c.12268_12269insA (p.Val4090AspfsTer?) c.12214_12215insA (p.Val4072AspfsTer?) c.12133_12134insA (p.Val4045AspfsTer?) c.12076_12077insA (p.Val4026AspfsTer?) c.10162_10163insA (p.Val3388AspfsTer?) c.9340_9341insA (p.Val3114AspfsTer?) n.12180_12181insA c.12382_12383insA (p.Val4128AspfsTer?) c.12310_12311insA (p.Val4104AspfsTer?) c.12172_12173insA (p.Val4058AspfsTer?) c.10258_10259insA (p.Val3420AspfsTer?) | |
16 | g.2090467C>A | CA394325914 | PKD1 | c.12262G>T (p.Val4088Leu) c.12259G>T (p.Val4087Leu) n.290G>T c.9217G>T (p.Val3073Leu) c.12340G>T (p.Val4114Leu) c.12337G>T (p.Val4113Leu) c.12322G>T (p.Val4108Leu) c.12316G>T (p.Val4106Leu) c.12313G>T (p.Val4105Leu) c.12286G>T (p.Val4096Leu) c.12268G>T (p.Val4090Leu) c.12214G>T (p.Val4072Leu) c.12133G>T (p.Val4045Leu) c.12076G>T (p.Val4026Leu) c.10162G>T (p.Val3388Leu) c.9340G>T (p.Val3114Leu) n.12180G>T c.12382G>T (p.Val4128Leu) c.12310G>T (p.Val4104Leu) c.12172G>T (p.Val4058Leu) c.10258G>T (p.Val3420Leu) | dbSNP |
16 | g.2090467C= | CA2202041843 | PKD1 | c.12262G= (p.Val4088=) c.12259G= (p.Val4087=) n.290G= c.9217G= (p.Val3073=) c.12340G= (p.Val4114=) c.12337G= (p.Val4113=) c.12322G= (p.Val4108=) c.12316G= (p.Val4106=) c.12313G= (p.Val4105=) c.12286G= (p.Val4096=) c.12268G= (p.Val4090=) c.12214G= (p.Val4072=) c.12133G= (p.Val4045=) c.12076G= (p.Val4026=) c.10162G= (p.Val3388=) c.9340G= (p.Val3114=) n.12180G= c.12382G= (p.Val4128=) c.12310G= (p.Val4104=) c.12172G= (p.Val4058=) c.10258G= (p.Val3420=) | |
16 | g.2090467C>G | CA394325917 | PKD1 | c.12262G>C (p.Val4088Leu) c.12259G>C (p.Val4087Leu) n.290G>C c.9217G>C (p.Val3073Leu) c.12340G>C (p.Val4114Leu) c.12337G>C (p.Val4113Leu) c.12322G>C (p.Val4108Leu) c.12316G>C (p.Val4106Leu) c.12313G>C (p.Val4105Leu) c.12286G>C (p.Val4096Leu) c.12268G>C (p.Val4090Leu) c.12214G>C (p.Val4072Leu) c.12133G>C (p.Val4045Leu) c.12076G>C (p.Val4026Leu) c.10162G>C (p.Val3388Leu) c.9340G>C (p.Val3114Leu) n.12180G>C c.12382G>C (p.Val4128Leu) c.12310G>C (p.Val4104Leu) c.12172G>C (p.Val4058Leu) c.10258G>C (p.Val3420Leu) | |
16 | g.2090467C>T | CA394325919 | PKD1 | c.12262G>A (p.Val4088Met) c.12259G>A (p.Val4087Met) n.290G>A c.9217G>A (p.Val3073Met) c.12340G>A (p.Val4114Met) c.12337G>A (p.Val4113Met) c.12322G>A (p.Val4108Met) c.12316G>A (p.Val4106Met) c.12313G>A (p.Val4105Met) c.12286G>A (p.Val4096Met) c.12268G>A (p.Val4090Met) c.12214G>A (p.Val4072Met) c.12133G>A (p.Val4045Met) c.12076G>A (p.Val4026Met) c.10162G>A (p.Val3388Met) c.9340G>A (p.Val3114Met) n.12180G>A c.12382G>A (p.Val4128Met) c.12310G>A (p.Val4104Met) c.12172G>A (p.Val4058Met) c.10258G>A (p.Val3420Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090467_2090479del | CA2695221542 | PKD1 | c.12250_12262del (p.Pro4084TrpfsTer?) c.12247_12259del (p.Pro4083TrpfsTer?) n.278_290del c.9205_9217del (p.Pro3069TrpfsTer?) c.12328_12340del (p.Pro4110TrpfsTer?) c.12325_12337del (p.Pro4109TrpfsTer?) c.12310_12322del (p.Pro4104TrpfsTer?) c.12304_12316del (p.Pro4102TrpfsTer?) c.12301_12313del (p.Pro4101TrpfsTer?) c.12274_12286del (p.Pro4092TrpfsTer?) c.12256_12268del (p.Pro4086TrpfsTer?) c.12202_12214del (p.Pro4068TrpfsTer?) c.12121_12133del (p.Pro4041TrpfsTer?) c.12064_12076del (p.Pro4022TrpfsTer?) c.10150_10162del (p.Pro3384TrpfsTer?) c.9328_9340del (p.Pro3110TrpfsTer?) n.12168_12180del c.12370_12382del (p.Pro4124TrpfsTer?) c.12298_12310del (p.Pro4100TrpfsTer?) c.12160_12172del (p.Pro4054TrpfsTer?) c.10246_10258del (p.Pro3416TrpfsTer?) | |
16 | g.2090468A= | CA2202041845 | PKD1 | c.12261T= (p.Cys4087=) c.12258T= (p.Cys4086=) n.289T= c.9216T= (p.Cys3072=) c.12339T= (p.Cys4113=) c.12336T= (p.Cys4112=) c.12321T= (p.Cys4107=) c.12315T= (p.Cys4105=) c.12312T= (p.Cys4104=) c.12285T= (p.Cys4095=) c.12267T= (p.Cys4089=) c.12213T= (p.Cys4071=) c.12132T= (p.Cys4044=) c.12075T= (p.Cys4025=) c.10161T= (p.Cys3387=) c.9339T= (p.Cys3113=) n.12179T= c.12381T= (p.Cys4127=) c.12309T= (p.Cys4103=) c.12171T= (p.Cys4057=) c.10257T= (p.Cys3419=) | |
16 | g.2090468A>C | CA394325920 | PKD1 | c.12261T>G (p.Cys4087Trp) c.12258T>G (p.Cys4086Trp) n.289T>G c.9216T>G (p.Cys3072Trp) c.12339T>G (p.Cys4113Trp) c.12336T>G (p.Cys4112Trp) c.12321T>G (p.Cys4107Trp) c.12315T>G (p.Cys4105Trp) c.12312T>G (p.Cys4104Trp) c.12285T>G (p.Cys4095Trp) c.12267T>G (p.Cys4089Trp) c.12213T>G (p.Cys4071Trp) c.12132T>G (p.Cys4044Trp) c.12075T>G (p.Cys4025Trp) c.10161T>G (p.Cys3387Trp) c.9339T>G (p.Cys3113Trp) n.12179T>G c.12381T>G (p.Cys4127Trp) c.12309T>G (p.Cys4103Trp) c.12171T>G (p.Cys4057Trp) c.10257T>G (p.Cys3419Trp) | |
16 | g.2090468A>G | CA493044569 | PKD1 | c.12261T>C (p.Cys4087=) c.12258T>C (p.Cys4086=) n.289T>C c.9216T>C (p.Cys3072=) c.12339T>C (p.Cys4113=) c.12336T>C (p.Cys4112=) c.12321T>C (p.Cys4107=) c.12315T>C (p.Cys4105=) c.12312T>C (p.Cys4104=) c.12285T>C (p.Cys4095=) c.12267T>C (p.Cys4089=) c.12213T>C (p.Cys4071=) c.12132T>C (p.Cys4044=) c.12075T>C (p.Cys4025=) c.10161T>C (p.Cys3387=) c.9339T>C (p.Cys3113=) n.12179T>C c.12381T>C (p.Cys4127=) c.12309T>C (p.Cys4103=) c.12171T>C (p.Cys4057=) c.10257T>C (p.Cys3419=) | |
16 | g.2090468A>T | CA119373 | PKD1 | c.12261T>A (p.Cys4087Ter) c.12258T>A (p.Cys4086Ter) n.289T>A c.9216T>A (p.Cys3072Ter) c.12339T>A (p.Cys4113Ter) c.12336T>A (p.Cys4112Ter) c.12321T>A (p.Cys4107Ter) c.12315T>A (p.Cys4105Ter) c.12312T>A (p.Cys4104Ter) c.12285T>A (p.Cys4095Ter) c.12267T>A (p.Cys4089Ter) c.12213T>A (p.Cys4071Ter) c.12132T>A (p.Cys4044Ter) c.12075T>A (p.Cys4025Ter) c.10161T>A (p.Cys3387Ter) c.9339T>A (p.Cys3113Ter) n.12179T>A c.12381T>A (p.Cys4127Ter) c.12309T>A (p.Cys4103Ter) c.12171T>A (p.Cys4057Ter) c.10257T>A (p.Cys3419Ter) | ClinVar dbSNP |