WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |