Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2090341_2090343del | CA2580612734 | PKD1 | c.12389_12391del (p.Val4130del) c.12386_12388del (p.Val4129del) n.417_419del c.9344_9346del (p.Val3115del) c.12467_12469del (p.Val4156del) c.12464_12466del (p.Val4155del) c.12449_12451del (p.Val4150del) c.12443_12445del (p.Val4148del) c.12440_12442del (p.Val4147del) c.12413_12415del (p.Val4138del) c.12395_12397del (p.Val4132del) c.12341_12343del (p.Val4114del) c.12260_12262del (p.Val4087del) c.12203_12205del (p.Val4068del) c.10289_10291del (p.Val3430del) c.9467_9469del (p.Val3156del) n.12307_12309del c.12509_12511del (p.Val4170del) c.12437_12439del (p.Val4146del) c.12299_12301del (p.Val4100del) c.10385_10387del (p.Val3462del) | ClinVar |
16 | g.2090342C>A | CA394324873 | PKD1 | c.12387G>T (p.Met4129Ile) c.12384G>T (p.Met4128Ile) n.415G>T c.9342G>T (p.Met3114Ile) c.12465G>T (p.Met4155Ile) c.12462G>T (p.Met4154Ile) c.12447G>T (p.Met4149Ile) c.12441G>T (p.Met4147Ile) c.12438G>T (p.Met4146Ile) c.12411G>T (p.Met4137Ile) c.12393G>T (p.Met4131Ile) c.12339G>T (p.Met4113Ile) c.12258G>T (p.Met4086Ile) c.12201G>T (p.Met4067Ile) c.10287G>T (p.Met3429Ile) c.9465G>T (p.Met3155Ile) n.12305G>T c.12507G>T (p.Met4169Ile) c.12435G>T (p.Met4145Ile) c.12297G>T (p.Met4099Ile) c.10383G>T (p.Met3461Ile) | |
16 | g.2090342C= | CA2202041439 | PKD1 | c.12387G= (p.Met4129=) c.12384G= (p.Met4128=) n.415G= c.9342G= (p.Met3114=) c.12465G= (p.Met4155=) c.12462G= (p.Met4154=) c.12447G= (p.Met4149=) c.12441G= (p.Met4147=) c.12438G= (p.Met4146=) c.12411G= (p.Met4137=) c.12393G= (p.Met4131=) c.12339G= (p.Met4113=) c.12258G= (p.Met4086=) c.12201G= (p.Met4067=) c.10287G= (p.Met3429=) c.9465G= (p.Met3155=) n.12305G= c.12507G= (p.Met4169=) c.12435G= (p.Met4145=) c.12297G= (p.Met4099=) c.10383G= (p.Met3461=) | |
16 | g.2090342C>G | CA7828666 | PKD1 | c.12387G>C (p.Met4129Ile) c.12384G>C (p.Met4128Ile) n.415G>C c.9342G>C (p.Met3114Ile) c.12465G>C (p.Met4155Ile) c.12462G>C (p.Met4154Ile) c.12447G>C (p.Met4149Ile) c.12441G>C (p.Met4147Ile) c.12438G>C (p.Met4146Ile) c.12411G>C (p.Met4137Ile) c.12393G>C (p.Met4131Ile) c.12339G>C (p.Met4113Ile) c.12258G>C (p.Met4086Ile) c.12201G>C (p.Met4067Ile) c.10287G>C (p.Met3429Ile) c.9465G>C (p.Met3155Ile) n.12305G>C c.12507G>C (p.Met4169Ile) c.12435G>C (p.Met4145Ile) c.12297G>C (p.Met4099Ile) c.10383G>C (p.Met3461Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090342C>T | CA394324876 | PKD1 | c.12387G>A (p.Met4129Ile) c.12384G>A (p.Met4128Ile) n.415G>A c.9342G>A (p.Met3114Ile) c.12465G>A (p.Met4155Ile) c.12462G>A (p.Met4154Ile) c.12447G>A (p.Met4149Ile) c.12441G>A (p.Met4147Ile) c.12438G>A (p.Met4146Ile) c.12411G>A (p.Met4137Ile) c.12393G>A (p.Met4131Ile) c.12339G>A (p.Met4113Ile) c.12258G>A (p.Met4086Ile) c.12201G>A (p.Met4067Ile) c.10287G>A (p.Met3429Ile) c.9465G>A (p.Met3155Ile) n.12305G>A c.12507G>A (p.Met4169Ile) c.12435G>A (p.Met4145Ile) c.12297G>A (p.Met4099Ile) c.10383G>A (p.Met3461Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090343_2090347del | CA2499223360 | PKD1 | c.12383_12387del (p.Glu4128GlyfsTer27) c.12380_12384del (p.Glu4127GlyfsTer27) n.411_415del c.9338_9342del (p.Glu3113GlyfsTer27) c.12461_12465del (p.Glu4154GlyfsTer27) c.12458_12462del (p.Glu4153GlyfsTer27) c.12443_12447del (p.Glu4148GlyfsTer27) c.12437_12441del (p.Glu4146GlyfsTer27) c.12434_12438del (p.Glu4145GlyfsTer27) c.12407_12411del (p.Glu4136GlyfsTer27) c.12389_12393del (p.Glu4130GlyfsTer27) c.12335_12339del (p.Glu4112GlyfsTer27) c.12254_12258del (p.Glu4085GlyfsTer27) c.12197_12201del (p.Glu4066GlyfsTer27) c.10283_10287del (p.Glu3428GlyfsTer27) c.9461_9465del (p.Glu3154GlyfsTer27) n.12301_12305del c.12503_12507del (p.Glu4168GlyfsTer27) c.12431_12435del (p.Glu4144GlyfsTer27) c.12293_12297del (p.Glu4098GlyfsTer27) c.10379_10383del (p.Glu3460GlyfsTer27) | ClinVar dbSNP |
16 | g.2090343A= | CA2202041443 | PKD1 | c.12386T= (p.Met4129=) c.12383T= (p.Met4128=) n.414T= c.9341T= (p.Met3114=) c.12464T= (p.Met4155=) c.12461T= (p.Met4154=) c.12446T= (p.Met4149=) c.12440T= (p.Met4147=) c.12437T= (p.Met4146=) c.12410T= (p.Met4137=) c.12392T= (p.Met4131=) c.12338T= (p.Met4113=) c.12257T= (p.Met4086=) c.12200T= (p.Met4067=) c.10286T= (p.Met3429=) c.9464T= (p.Met3155=) n.12304T= c.12506T= (p.Met4169=) c.12434T= (p.Met4145=) c.12296T= (p.Met4099=) c.10382T= (p.Met3461=) | |
16 | g.2090343A>C | CA394324884 | PKD1 | c.12386T>G (p.Met4129Arg) c.12383T>G (p.Met4128Arg) n.414T>G c.9341T>G (p.Met3114Arg) c.12464T>G (p.Met4155Arg) c.12461T>G (p.Met4154Arg) c.12446T>G (p.Met4149Arg) c.12440T>G (p.Met4147Arg) c.12437T>G (p.Met4146Arg) c.12410T>G (p.Met4137Arg) c.12392T>G (p.Met4131Arg) c.12338T>G (p.Met4113Arg) c.12257T>G (p.Met4086Arg) c.12200T>G (p.Met4067Arg) c.10286T>G (p.Met3429Arg) c.9464T>G (p.Met3155Arg) n.12304T>G c.12506T>G (p.Met4169Arg) c.12434T>G (p.Met4145Arg) c.12296T>G (p.Met4099Arg) c.10382T>G (p.Met3461Arg) | ClinVar dbSNP |
16 | g.2090343A>G | CA394324887 | PKD1 | c.12386T>C (p.Met4129Thr) c.12383T>C (p.Met4128Thr) n.414T>C c.9341T>C (p.Met3114Thr) c.12464T>C (p.Met4155Thr) c.12461T>C (p.Met4154Thr) c.12446T>C (p.Met4149Thr) c.12440T>C (p.Met4147Thr) c.12437T>C (p.Met4146Thr) c.12410T>C (p.Met4137Thr) c.12392T>C (p.Met4131Thr) c.12338T>C (p.Met4113Thr) c.12257T>C (p.Met4086Thr) c.12200T>C (p.Met4067Thr) c.10286T>C (p.Met3429Thr) c.9464T>C (p.Met3155Thr) n.12304T>C c.12506T>C (p.Met4169Thr) c.12434T>C (p.Met4145Thr) c.12296T>C (p.Met4099Thr) c.10382T>C (p.Met3461Thr) | |
16 | g.2090343A>T | CA394324889 | PKD1 | c.12386T>A (p.Met4129Lys) c.12383T>A (p.Met4128Lys) n.414T>A c.9341T>A (p.Met3114Lys) c.12464T>A (p.Met4155Lys) c.12461T>A (p.Met4154Lys) c.12446T>A (p.Met4149Lys) c.12440T>A (p.Met4147Lys) c.12437T>A (p.Met4146Lys) c.12410T>A (p.Met4137Lys) c.12392T>A (p.Met4131Lys) c.12338T>A (p.Met4113Lys) c.12257T>A (p.Met4086Lys) c.12200T>A (p.Met4067Lys) c.10286T>A (p.Met3429Lys) c.9464T>A (p.Met3155Lys) n.12304T>A c.12506T>A (p.Met4169Lys) c.12434T>A (p.Met4145Lys) c.12296T>A (p.Met4099Lys) c.10382T>A (p.Met3461Lys) | |
16 | g.2090344del | CA2695221504 | PKD1 | c.12385del (p.Met4129TrpfsTer?) c.12382del (p.Met4128TrpfsTer?) n.413del c.9340del (p.Met3114TrpfsTer?) c.12463del (p.Met4155TrpfsTer?) c.12460del (p.Met4154TrpfsTer?) c.12445del (p.Met4149TrpfsTer?) c.12439del (p.Met4147TrpfsTer?) c.12436del (p.Met4146TrpfsTer?) c.12409del (p.Met4137TrpfsTer?) c.12391del (p.Met4131TrpfsTer?) c.12337del (p.Met4113TrpfsTer?) c.12256del (p.Met4086TrpfsTer?) c.12199del (p.Met4067TrpfsTer?) c.10285del (p.Met3429TrpfsTer?) c.9463del (p.Met3155TrpfsTer?) n.12303del c.12505del (p.Met4169TrpfsTer?) c.12433del (p.Met4145TrpfsTer?) c.12295del (p.Met4099TrpfsTer?) c.10381del (p.Met3461TrpfsTer?) | |
16 | g.2090344T>A | CA394324894 | PKD1 | c.12385A>T (p.Met4129Leu) c.12382A>T (p.Met4128Leu) n.413A>T c.9340A>T (p.Met3114Leu) c.12463A>T (p.Met4155Leu) c.12460A>T (p.Met4154Leu) c.12445A>T (p.Met4149Leu) c.12439A>T (p.Met4147Leu) c.12436A>T (p.Met4146Leu) c.12409A>T (p.Met4137Leu) c.12391A>T (p.Met4131Leu) c.12337A>T (p.Met4113Leu) c.12256A>T (p.Met4086Leu) c.12199A>T (p.Met4067Leu) c.10285A>T (p.Met3429Leu) c.9463A>T (p.Met3155Leu) n.12303A>T c.12505A>T (p.Met4169Leu) c.12433A>T (p.Met4145Leu) c.12295A>T (p.Met4099Leu) c.10381A>T (p.Met3461Leu) | |
16 | g.2090344T>C | CA394324896 | PKD1 | c.12385A>G (p.Met4129Val) c.12382A>G (p.Met4128Val) n.413A>G c.9340A>G (p.Met3114Val) c.12463A>G (p.Met4155Val) c.12460A>G (p.Met4154Val) c.12445A>G (p.Met4149Val) c.12439A>G (p.Met4147Val) c.12436A>G (p.Met4146Val) c.12409A>G (p.Met4137Val) c.12391A>G (p.Met4131Val) c.12337A>G (p.Met4113Val) c.12256A>G (p.Met4086Val) c.12199A>G (p.Met4067Val) c.10285A>G (p.Met3429Val) c.9463A>G (p.Met3155Val) n.12303A>G c.12505A>G (p.Met4169Val) c.12433A>G (p.Met4145Val) c.12295A>G (p.Met4099Val) c.10381A>G (p.Met3461Val) | dbSNP gnomAD v2 |
16 | g.2090344T>G | CA394324901 | PKD1 | c.12385A>C (p.Met4129Leu) c.12382A>C (p.Met4128Leu) n.413A>C c.9340A>C (p.Met3114Leu) c.12463A>C (p.Met4155Leu) c.12460A>C (p.Met4154Leu) c.12445A>C (p.Met4149Leu) c.12439A>C (p.Met4147Leu) c.12436A>C (p.Met4146Leu) c.12409A>C (p.Met4137Leu) c.12391A>C (p.Met4131Leu) c.12337A>C (p.Met4113Leu) c.12256A>C (p.Met4086Leu) c.12199A>C (p.Met4067Leu) c.10285A>C (p.Met3429Leu) c.9463A>C (p.Met3155Leu) n.12303A>C c.12505A>C (p.Met4169Leu) c.12433A>C (p.Met4145Leu) c.12295A>C (p.Met4099Leu) c.10381A>C (p.Met3461Leu) | |
16 | g.2090344T= | CA2202041446 | PKD1 | c.12385A= (p.Met4129=) c.12382A= (p.Met4128=) n.413A= c.9340A= (p.Met3114=) c.12463A= (p.Met4155=) c.12460A= (p.Met4154=) c.12445A= (p.Met4149=) c.12439A= (p.Met4147=) c.12436A= (p.Met4146=) c.12409A= (p.Met4137=) c.12391A= (p.Met4131=) c.12337A= (p.Met4113=) c.12256A= (p.Met4086=) c.12199A= (p.Met4067=) c.10285A= (p.Met3429=) c.9463A= (p.Met3155=) n.12303A= c.12505A= (p.Met4169=) c.12433A= (p.Met4145=) c.12295A= (p.Met4099=) c.10381A= (p.Met3461=) | |
16 | g.2090345C>A | CA394324905 | PKD1 | c.12384G>T (p.Glu4128Asp) c.12381G>T (p.Glu4127Asp) n.412G>T c.9339G>T (p.Glu3113Asp) c.12462G>T (p.Glu4154Asp) c.12459G>T (p.Glu4153Asp) c.12444G>T (p.Glu4148Asp) c.12438G>T (p.Glu4146Asp) c.12435G>T (p.Glu4145Asp) c.12408G>T (p.Glu4136Asp) c.12390G>T (p.Glu4130Asp) c.12336G>T (p.Glu4112Asp) c.12255G>T (p.Glu4085Asp) c.12198G>T (p.Glu4066Asp) c.10284G>T (p.Glu3428Asp) c.9462G>T (p.Glu3154Asp) n.12302G>T c.12504G>T (p.Glu4168Asp) c.12432G>T (p.Glu4144Asp) c.12294G>T (p.Glu4098Asp) c.10380G>T (p.Glu3460Asp) | |
16 | g.2090345C= | CA2202041451 | PKD1 | c.12384G= (p.Glu4128=) c.12381G= (p.Glu4127=) n.412G= c.9339G= (p.Glu3113=) c.12462G= (p.Glu4154=) c.12459G= (p.Glu4153=) c.12444G= (p.Glu4148=) c.12438G= (p.Glu4146=) c.12435G= (p.Glu4145=) c.12408G= (p.Glu4136=) c.12390G= (p.Glu4130=) c.12336G= (p.Glu4112=) c.12255G= (p.Glu4085=) c.12198G= (p.Glu4066=) c.10284G= (p.Glu3428=) c.9462G= (p.Glu3154=) n.12302G= c.12504G= (p.Glu4168=) c.12432G= (p.Glu4144=) c.12294G= (p.Glu4098=) c.10380G= (p.Glu3460=) | |
16 | g.2090345C>G | CA394324907 | PKD1 | c.12384G>C (p.Glu4128Asp) c.12381G>C (p.Glu4127Asp) n.412G>C c.9339G>C (p.Glu3113Asp) c.12462G>C (p.Glu4154Asp) c.12459G>C (p.Glu4153Asp) c.12444G>C (p.Glu4148Asp) c.12438G>C (p.Glu4146Asp) c.12435G>C (p.Glu4145Asp) c.12408G>C (p.Glu4136Asp) c.12390G>C (p.Glu4130Asp) c.12336G>C (p.Glu4112Asp) c.12255G>C (p.Glu4085Asp) c.12198G>C (p.Glu4066Asp) c.10284G>C (p.Glu3428Asp) c.9462G>C (p.Glu3154Asp) n.12302G>C c.12504G>C (p.Glu4168Asp) c.12432G>C (p.Glu4144Asp) c.12294G>C (p.Glu4098Asp) c.10380G>C (p.Glu3460Asp) | |
16 | g.2090345C>T | CA276763998 | PKD1 | c.12384G>A (p.Glu4128=) c.12381G>A (p.Glu4127=) n.412G>A c.9339G>A (p.Glu3113=) c.12462G>A (p.Glu4154=) c.12459G>A (p.Glu4153=) c.12444G>A (p.Glu4148=) c.12438G>A (p.Glu4146=) c.12435G>A (p.Glu4145=) c.12408G>A (p.Glu4136=) c.12390G>A (p.Glu4130=) c.12336G>A (p.Glu4112=) c.12255G>A (p.Glu4085=) c.12198G>A (p.Glu4066=) c.10284G>A (p.Glu3428=) c.9462G>A (p.Glu3154=) n.12302G>A c.12504G>A (p.Glu4168=) c.12432G>A (p.Glu4144=) c.12294G>A (p.Glu4098=) c.10380G>A (p.Glu3460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090346T>A | CA394324914 | PKD1 | c.12383A>T (p.Glu4128Val) c.12380A>T (p.Glu4127Val) n.411A>T c.9338A>T (p.Glu3113Val) c.12461A>T (p.Glu4154Val) c.12458A>T (p.Glu4153Val) c.12443A>T (p.Glu4148Val) c.12437A>T (p.Glu4146Val) c.12434A>T (p.Glu4145Val) c.12407A>T (p.Glu4136Val) c.12389A>T (p.Glu4130Val) c.12335A>T (p.Glu4112Val) c.12254A>T (p.Glu4085Val) c.12197A>T (p.Glu4066Val) c.10283A>T (p.Glu3428Val) c.9461A>T (p.Glu3154Val) n.12301A>T c.12503A>T (p.Glu4168Val) c.12431A>T (p.Glu4144Val) c.12293A>T (p.Glu4098Val) c.10379A>T (p.Glu3460Val) | |
16 | g.2090346T>C | CA394324918 | PKD1 | c.12383A>G (p.Glu4128Gly) c.12380A>G (p.Glu4127Gly) n.411A>G c.9338A>G (p.Glu3113Gly) c.12461A>G (p.Glu4154Gly) c.12458A>G (p.Glu4153Gly) c.12443A>G (p.Glu4148Gly) c.12437A>G (p.Glu4146Gly) c.12434A>G (p.Glu4145Gly) c.12407A>G (p.Glu4136Gly) c.12389A>G (p.Glu4130Gly) c.12335A>G (p.Glu4112Gly) c.12254A>G (p.Glu4085Gly) c.12197A>G (p.Glu4066Gly) c.10283A>G (p.Glu3428Gly) c.9461A>G (p.Glu3154Gly) n.12301A>G c.12503A>G (p.Glu4168Gly) c.12431A>G (p.Glu4144Gly) c.12293A>G (p.Glu4098Gly) c.10379A>G (p.Glu3460Gly) | gnomAD v4 |
16 | g.2090346T>G | CA394324922 | PKD1 | c.12383A>C (p.Glu4128Ala) c.12380A>C (p.Glu4127Ala) n.411A>C c.9338A>C (p.Glu3113Ala) c.12461A>C (p.Glu4154Ala) c.12458A>C (p.Glu4153Ala) c.12443A>C (p.Glu4148Ala) c.12437A>C (p.Glu4146Ala) c.12434A>C (p.Glu4145Ala) c.12407A>C (p.Glu4136Ala) c.12389A>C (p.Glu4130Ala) c.12335A>C (p.Glu4112Ala) c.12254A>C (p.Glu4085Ala) c.12197A>C (p.Glu4066Ala) c.10283A>C (p.Glu3428Ala) c.9461A>C (p.Glu3154Ala) n.12301A>C c.12503A>C (p.Glu4168Ala) c.12431A>C (p.Glu4144Ala) c.12293A>C (p.Glu4098Ala) c.10379A>C (p.Glu3460Ala) | |
16 | g.2090347C>A | CA394324930 | PKD1 | c.12382G>T (p.Glu4128Ter) c.12379G>T (p.Glu4127Ter) n.410G>T c.9337G>T (p.Glu3113Ter) c.12460G>T (p.Glu4154Ter) c.12457G>T (p.Glu4153Ter) c.12442G>T (p.Glu4148Ter) c.12436G>T (p.Glu4146Ter) c.12433G>T (p.Glu4145Ter) c.12406G>T (p.Glu4136Ter) c.12388G>T (p.Glu4130Ter) c.12334G>T (p.Glu4112Ter) c.12253G>T (p.Glu4085Ter) c.12196G>T (p.Glu4066Ter) c.10282G>T (p.Glu3428Ter) c.9460G>T (p.Glu3154Ter) n.12300G>T c.12502G>T (p.Glu4168Ter) c.12430G>T (p.Glu4144Ter) c.12292G>T (p.Glu4098Ter) c.10378G>T (p.Glu3460Ter) | ClinVar |
16 | g.2090347C= | CA2202041457 | PKD1 | c.12382G= (p.Glu4128=) c.12379G= (p.Glu4127=) n.410G= c.9337G= (p.Glu3113=) c.12460G= (p.Glu4154=) c.12457G= (p.Glu4153=) c.12442G= (p.Glu4148=) c.12436G= (p.Glu4146=) c.12433G= (p.Glu4145=) c.12406G= (p.Glu4136=) c.12388G= (p.Glu4130=) c.12334G= (p.Glu4112=) c.12253G= (p.Glu4085=) c.12196G= (p.Glu4066=) c.10282G= (p.Glu3428=) c.9460G= (p.Glu3154=) n.12300G= c.12502G= (p.Glu4168=) c.12430G= (p.Glu4144=) c.12292G= (p.Glu4098=) c.10378G= (p.Glu3460=) | |
16 | g.2090347C>G | CA394324928 | PKD1 | c.12382G>C (p.Glu4128Gln) c.12379G>C (p.Glu4127Gln) n.410G>C c.9337G>C (p.Glu3113Gln) c.12460G>C (p.Glu4154Gln) c.12457G>C (p.Glu4153Gln) c.12442G>C (p.Glu4148Gln) c.12436G>C (p.Glu4146Gln) c.12433G>C (p.Glu4145Gln) c.12406G>C (p.Glu4136Gln) c.12388G>C (p.Glu4130Gln) c.12334G>C (p.Glu4112Gln) c.12253G>C (p.Glu4085Gln) c.12196G>C (p.Glu4066Gln) c.10282G>C (p.Glu3428Gln) c.9460G>C (p.Glu3154Gln) n.12300G>C c.12502G>C (p.Glu4168Gln) c.12430G>C (p.Glu4144Gln) c.12292G>C (p.Glu4098Gln) c.10378G>C (p.Glu3460Gln) | dbSNP gnomAD v4 |
16 | g.2090347C>T | CA394324926 | PKD1 | c.12382G>A (p.Glu4128Lys) c.12379G>A (p.Glu4127Lys) n.410G>A c.9337G>A (p.Glu3113Lys) c.12460G>A (p.Glu4154Lys) c.12457G>A (p.Glu4153Lys) c.12442G>A (p.Glu4148Lys) c.12436G>A (p.Glu4146Lys) c.12433G>A (p.Glu4145Lys) c.12406G>A (p.Glu4136Lys) c.12388G>A (p.Glu4130Lys) c.12334G>A (p.Glu4112Lys) c.12253G>A (p.Glu4085Lys) c.12196G>A (p.Glu4066Lys) c.10282G>A (p.Glu3428Lys) c.9460G>A (p.Glu3154Lys) n.12300G>A c.12502G>A (p.Glu4168Lys) c.12430G>A (p.Glu4144Lys) c.12292G>A (p.Glu4098Lys) c.10378G>A (p.Glu3460Lys) | ClinVar dbSNP |
16 | g.2090348G>A | CA7828667 | PKD1 | c.12381C>T (p.Tyr4127=) c.12378C>T (p.Tyr4126=) n.409C>T c.9336C>T (p.Tyr3112=) c.12459C>T (p.Tyr4153=) c.12456C>T (p.Tyr4152=) c.12441C>T (p.Tyr4147=) c.12435C>T (p.Tyr4145=) c.12432C>T (p.Tyr4144=) c.12405C>T (p.Tyr4135=) c.12387C>T (p.Tyr4129=) c.12333C>T (p.Tyr4111=) c.12252C>T (p.Tyr4084=) c.12195C>T (p.Tyr4065=) c.10281C>T (p.Tyr3427=) c.9459C>T (p.Tyr3153=) n.12299C>T c.12501C>T (p.Tyr4167=) c.12429C>T (p.Tyr4143=) c.12291C>T (p.Tyr4097=) c.10377C>T (p.Tyr3459=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090348G>C | CA394324937 | PKD1 | c.12381C>G (p.Tyr4127Ter) c.12378C>G (p.Tyr4126Ter) n.409C>G c.9336C>G (p.Tyr3112Ter) c.12459C>G (p.Tyr4153Ter) c.12456C>G (p.Tyr4152Ter) c.12441C>G (p.Tyr4147Ter) c.12435C>G (p.Tyr4145Ter) c.12432C>G (p.Tyr4144Ter) c.12405C>G (p.Tyr4135Ter) c.12387C>G (p.Tyr4129Ter) c.12333C>G (p.Tyr4111Ter) c.12252C>G (p.Tyr4084Ter) c.12195C>G (p.Tyr4065Ter) c.10281C>G (p.Tyr3427Ter) c.9459C>G (p.Tyr3153Ter) n.12299C>G c.12501C>G (p.Tyr4167Ter) c.12429C>G (p.Tyr4143Ter) c.12291C>G (p.Tyr4097Ter) c.10377C>G (p.Tyr3459Ter) | ClinVar dbSNP |
16 | g.2090348G= | CA2202041464 | PKD1 | c.12381C= (p.Tyr4127=) c.12378C= (p.Tyr4126=) n.409C= c.9336C= (p.Tyr3112=) c.12459C= (p.Tyr4153=) c.12456C= (p.Tyr4152=) c.12441C= (p.Tyr4147=) c.12435C= (p.Tyr4145=) c.12432C= (p.Tyr4144=) c.12405C= (p.Tyr4135=) c.12387C= (p.Tyr4129=) c.12333C= (p.Tyr4111=) c.12252C= (p.Tyr4084=) c.12195C= (p.Tyr4065=) c.10281C= (p.Tyr3427=) c.9459C= (p.Tyr3153=) n.12299C= c.12501C= (p.Tyr4167=) c.12429C= (p.Tyr4143=) c.12291C= (p.Tyr4097=) c.10377C= (p.Tyr3459=) | |
16 | g.2090348G>T | CA394324939 | PKD1 | c.12381C>A (p.Tyr4127Ter) c.12378C>A (p.Tyr4126Ter) n.409C>A c.9336C>A (p.Tyr3112Ter) c.12459C>A (p.Tyr4153Ter) c.12456C>A (p.Tyr4152Ter) c.12441C>A (p.Tyr4147Ter) c.12435C>A (p.Tyr4145Ter) c.12432C>A (p.Tyr4144Ter) c.12405C>A (p.Tyr4135Ter) c.12387C>A (p.Tyr4129Ter) c.12333C>A (p.Tyr4111Ter) c.12252C>A (p.Tyr4084Ter) c.12195C>A (p.Tyr4065Ter) c.10281C>A (p.Tyr3427Ter) c.9459C>A (p.Tyr3153Ter) n.12299C>A c.12501C>A (p.Tyr4167Ter) c.12429C>A (p.Tyr4143Ter) c.12291C>A (p.Tyr4097Ter) c.10377C>A (p.Tyr3459Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090349T>A | CA394324945 | PKD1 | c.12380A>T (p.Tyr4127Phe) c.12377A>T (p.Tyr4126Phe) n.408A>T c.9335A>T (p.Tyr3112Phe) c.12458A>T (p.Tyr4153Phe) c.12455A>T (p.Tyr4152Phe) c.12440A>T (p.Tyr4147Phe) c.12434A>T (p.Tyr4145Phe) c.12431A>T (p.Tyr4144Phe) c.12404A>T (p.Tyr4135Phe) c.12386A>T (p.Tyr4129Phe) c.12332A>T (p.Tyr4111Phe) c.12251A>T (p.Tyr4084Phe) c.12194A>T (p.Tyr4065Phe) c.10280A>T (p.Tyr3427Phe) c.9458A>T (p.Tyr3153Phe) n.12298A>T c.12500A>T (p.Tyr4167Phe) c.12428A>T (p.Tyr4143Phe) c.12290A>T (p.Tyr4097Phe) c.10376A>T (p.Tyr3459Phe) | |
16 | g.2090349T>C | CA276764000 | PKD1 | c.12380A>G (p.Tyr4127Cys) c.12377A>G (p.Tyr4126Cys) n.408A>G c.9335A>G (p.Tyr3112Cys) c.12458A>G (p.Tyr4153Cys) c.12455A>G (p.Tyr4152Cys) c.12440A>G (p.Tyr4147Cys) c.12434A>G (p.Tyr4145Cys) c.12431A>G (p.Tyr4144Cys) c.12404A>G (p.Tyr4135Cys) c.12386A>G (p.Tyr4129Cys) c.12332A>G (p.Tyr4111Cys) c.12251A>G (p.Tyr4084Cys) c.12194A>G (p.Tyr4065Cys) c.10280A>G (p.Tyr3427Cys) c.9458A>G (p.Tyr3153Cys) n.12298A>G c.12500A>G (p.Tyr4167Cys) c.12428A>G (p.Tyr4143Cys) c.12290A>G (p.Tyr4097Cys) c.10376A>G (p.Tyr3459Cys) | dbSNP |
16 | g.2090349T>G | CA394324951 | PKD1 | c.12380A>C (p.Tyr4127Ser) c.12377A>C (p.Tyr4126Ser) n.408A>C c.9335A>C (p.Tyr3112Ser) c.12458A>C (p.Tyr4153Ser) c.12455A>C (p.Tyr4152Ser) c.12440A>C (p.Tyr4147Ser) c.12434A>C (p.Tyr4145Ser) c.12431A>C (p.Tyr4144Ser) c.12404A>C (p.Tyr4135Ser) c.12386A>C (p.Tyr4129Ser) c.12332A>C (p.Tyr4111Ser) c.12251A>C (p.Tyr4084Ser) c.12194A>C (p.Tyr4065Ser) c.10280A>C (p.Tyr3427Ser) c.9458A>C (p.Tyr3153Ser) n.12298A>C c.12500A>C (p.Tyr4167Ser) c.12428A>C (p.Tyr4143Ser) c.12290A>C (p.Tyr4097Ser) c.10376A>C (p.Tyr3459Ser) | |
16 | g.2090349T= | CA2202041470 | PKD1 | c.12380A= (p.Tyr4127=) c.12377A= (p.Tyr4126=) n.408A= c.9335A= (p.Tyr3112=) c.12458A= (p.Tyr4153=) c.12455A= (p.Tyr4152=) c.12440A= (p.Tyr4147=) c.12434A= (p.Tyr4145=) c.12431A= (p.Tyr4144=) c.12404A= (p.Tyr4135=) c.12386A= (p.Tyr4129=) c.12332A= (p.Tyr4111=) c.12251A= (p.Tyr4084=) c.12194A= (p.Tyr4065=) c.10280A= (p.Tyr3427=) c.9458A= (p.Tyr3153=) n.12298A= c.12500A= (p.Tyr4167=) c.12428A= (p.Tyr4143=) c.12290A= (p.Tyr4097=) c.10376A= (p.Tyr3459=) | |
16 | g.2090349dup | CA2695221507 | PKD1 | c.12380dup (p.Tyr4127Ter) c.12377dup (p.Tyr4126Ter) n.408dup c.9335dup (p.Tyr3112Ter) c.12458dup (p.Tyr4153Ter) c.12455dup (p.Tyr4152Ter) c.12440dup (p.Tyr4147Ter) c.12434dup (p.Tyr4145Ter) c.12431dup (p.Tyr4144Ter) c.12404dup (p.Tyr4135Ter) c.12386dup (p.Tyr4129Ter) c.12332dup (p.Tyr4111Ter) c.12251dup (p.Tyr4084Ter) c.12194dup (p.Tyr4065Ter) c.10280dup (p.Tyr3427Ter) c.9458dup (p.Tyr3153Ter) n.12298dup c.12500dup (p.Tyr4167Ter) c.12428dup (p.Tyr4143Ter) c.12290dup (p.Tyr4097Ter) c.10376dup (p.Tyr3459Ter) | |
16 | g.2090350A= | CA2202041473 | PKD1 | c.12379T= (p.Tyr4127=) c.12376T= (p.Tyr4126=) n.407T= c.9334T= (p.Tyr3112=) c.12457T= (p.Tyr4153=) c.12454T= (p.Tyr4152=) c.12439T= (p.Tyr4147=) c.12433T= (p.Tyr4145=) c.12430T= (p.Tyr4144=) c.12403T= (p.Tyr4135=) c.12385T= (p.Tyr4129=) c.12331T= (p.Tyr4111=) c.12250T= (p.Tyr4084=) c.12193T= (p.Tyr4065=) c.10279T= (p.Tyr3427=) c.9457T= (p.Tyr3153=) n.12297T= c.12499T= (p.Tyr4167=) c.12427T= (p.Tyr4143=) c.12289T= (p.Tyr4097=) c.10375T= (p.Tyr3459=) | |
16 | g.2090350A>C | CA7828668 | PKD1 | c.12379T>G (p.Tyr4127Asp) c.12376T>G (p.Tyr4126Asp) n.407T>G c.9334T>G (p.Tyr3112Asp) c.12457T>G (p.Tyr4153Asp) c.12454T>G (p.Tyr4152Asp) c.12439T>G (p.Tyr4147Asp) c.12433T>G (p.Tyr4145Asp) c.12430T>G (p.Tyr4144Asp) c.12403T>G (p.Tyr4135Asp) c.12385T>G (p.Tyr4129Asp) c.12331T>G (p.Tyr4111Asp) c.12250T>G (p.Tyr4084Asp) c.12193T>G (p.Tyr4065Asp) c.10279T>G (p.Tyr3427Asp) c.9457T>G (p.Tyr3153Asp) n.12297T>G c.12499T>G (p.Tyr4167Asp) c.12427T>G (p.Tyr4143Asp) c.12289T>G (p.Tyr4097Asp) c.10375T>G (p.Tyr3459Asp) | dbSNP ExAC gnomAD v2 |
16 | g.2090350A>G | CA394324956 | PKD1 | c.12379T>C (p.Tyr4127His) c.12376T>C (p.Tyr4126His) n.407T>C c.9334T>C (p.Tyr3112His) c.12457T>C (p.Tyr4153His) c.12454T>C (p.Tyr4152His) c.12439T>C (p.Tyr4147His) c.12433T>C (p.Tyr4145His) c.12430T>C (p.Tyr4144His) c.12403T>C (p.Tyr4135His) c.12385T>C (p.Tyr4129His) c.12331T>C (p.Tyr4111His) c.12250T>C (p.Tyr4084His) c.12193T>C (p.Tyr4065His) c.10279T>C (p.Tyr3427His) c.9457T>C (p.Tyr3153His) n.12297T>C c.12499T>C (p.Tyr4167His) c.12427T>C (p.Tyr4143His) c.12289T>C (p.Tyr4097His) c.10375T>C (p.Tyr3459His) | |
16 | g.2090350A>T | CA394324960 | PKD1 | c.12379T>A (p.Tyr4127Asn) c.12376T>A (p.Tyr4126Asn) n.407T>A c.9334T>A (p.Tyr3112Asn) c.12457T>A (p.Tyr4153Asn) c.12454T>A (p.Tyr4152Asn) c.12439T>A (p.Tyr4147Asn) c.12433T>A (p.Tyr4145Asn) c.12430T>A (p.Tyr4144Asn) c.12403T>A (p.Tyr4135Asn) c.12385T>A (p.Tyr4129Asn) c.12331T>A (p.Tyr4111Asn) c.12250T>A (p.Tyr4084Asn) c.12193T>A (p.Tyr4065Asn) c.10279T>A (p.Tyr3427Asn) c.9457T>A (p.Tyr3153Asn) n.12297T>A c.12499T>A (p.Tyr4167Asn) c.12427T>A (p.Tyr4143Asn) c.12289T>A (p.Tyr4097Asn) c.10375T>A (p.Tyr3459Asn) | |
16 | g.2090351G>A | CA493044239 | PKD1 | c.12378C>T (p.Asp4126=) c.12375C>T (p.Asp4125=) n.406C>T c.9333C>T (p.Asp3111=) c.12456C>T (p.Asp4152=) c.12453C>T (p.Asp4151=) c.12438C>T (p.Asp4146=) c.12432C>T (p.Asp4144=) c.12429C>T (p.Asp4143=) c.12402C>T (p.Asp4134=) c.12384C>T (p.Asp4128=) c.12330C>T (p.Asp4110=) c.12249C>T (p.Asp4083=) c.12192C>T (p.Asp4064=) c.10278C>T (p.Asp3426=) c.9456C>T (p.Asp3152=) n.12296C>T c.12498C>T (p.Asp4166=) c.12426C>T (p.Asp4142=) c.12288C>T (p.Asp4096=) c.10374C>T (p.Asp3458=) | dbSNP gnomAD v4 |
16 | g.2090351G>C | CA7828669 | PKD1 | c.12378C>G (p.Asp4126Glu) c.12375C>G (p.Asp4125Glu) n.406C>G c.9333C>G (p.Asp3111Glu) c.12456C>G (p.Asp4152Glu) c.12453C>G (p.Asp4151Glu) c.12438C>G (p.Asp4146Glu) c.12432C>G (p.Asp4144Glu) c.12429C>G (p.Asp4143Glu) c.12402C>G (p.Asp4134Glu) c.12384C>G (p.Asp4128Glu) c.12330C>G (p.Asp4110Glu) c.12249C>G (p.Asp4083Glu) c.12192C>G (p.Asp4064Glu) c.10278C>G (p.Asp3426Glu) c.9456C>G (p.Asp3152Glu) n.12296C>G c.12498C>G (p.Asp4166Glu) c.12426C>G (p.Asp4142Glu) c.12288C>G (p.Asp4096Glu) c.10374C>G (p.Asp3458Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090351G= | CA2202041477 | PKD1 | c.12378C= (p.Asp4126=) c.12375C= (p.Asp4125=) n.406C= c.9333C= (p.Asp3111=) c.12456C= (p.Asp4152=) c.12453C= (p.Asp4151=) c.12438C= (p.Asp4146=) c.12432C= (p.Asp4144=) c.12429C= (p.Asp4143=) c.12402C= (p.Asp4134=) c.12384C= (p.Asp4128=) c.12330C= (p.Asp4110=) c.12249C= (p.Asp4083=) c.12192C= (p.Asp4064=) c.10278C= (p.Asp3426=) c.9456C= (p.Asp3152=) n.12296C= c.12498C= (p.Asp4166=) c.12426C= (p.Asp4142=) c.12288C= (p.Asp4096=) c.10374C= (p.Asp3458=) | |
16 | g.2090351G>T | CA394324965 | PKD1 | c.12378C>A (p.Asp4126Glu) c.12375C>A (p.Asp4125Glu) n.406C>A c.9333C>A (p.Asp3111Glu) c.12456C>A (p.Asp4152Glu) c.12453C>A (p.Asp4151Glu) c.12438C>A (p.Asp4146Glu) c.12432C>A (p.Asp4144Glu) c.12429C>A (p.Asp4143Glu) c.12402C>A (p.Asp4134Glu) c.12384C>A (p.Asp4128Glu) c.12330C>A (p.Asp4110Glu) c.12249C>A (p.Asp4083Glu) c.12192C>A (p.Asp4064Glu) c.10278C>A (p.Asp3426Glu) c.9456C>A (p.Asp3152Glu) n.12296C>A c.12498C>A (p.Asp4166Glu) c.12426C>A (p.Asp4142Glu) c.12288C>A (p.Asp4096Glu) c.10374C>A (p.Asp3458Glu) | |
16 | g.2090352T>A | CA394324976 | PKD1 | c.12377A>T (p.Asp4126Val) c.12374A>T (p.Asp4125Val) n.405A>T c.9332A>T (p.Asp3111Val) c.12455A>T (p.Asp4152Val) c.12452A>T (p.Asp4151Val) c.12437A>T (p.Asp4146Val) c.12431A>T (p.Asp4144Val) c.12428A>T (p.Asp4143Val) c.12401A>T (p.Asp4134Val) c.12383A>T (p.Asp4128Val) c.12329A>T (p.Asp4110Val) c.12248A>T (p.Asp4083Val) c.12191A>T (p.Asp4064Val) c.10277A>T (p.Asp3426Val) c.9455A>T (p.Asp3152Val) n.12295A>T c.12497A>T (p.Asp4166Val) c.12425A>T (p.Asp4142Val) c.12287A>T (p.Asp4096Val) c.10373A>T (p.Asp3458Val) | |
16 | g.2090352T>C | CA394324973 | PKD1 | c.12377A>G (p.Asp4126Gly) c.12374A>G (p.Asp4125Gly) n.405A>G c.9332A>G (p.Asp3111Gly) c.12455A>G (p.Asp4152Gly) c.12452A>G (p.Asp4151Gly) c.12437A>G (p.Asp4146Gly) c.12431A>G (p.Asp4144Gly) c.12428A>G (p.Asp4143Gly) c.12401A>G (p.Asp4134Gly) c.12383A>G (p.Asp4128Gly) c.12329A>G (p.Asp4110Gly) c.12248A>G (p.Asp4083Gly) c.12191A>G (p.Asp4064Gly) c.10277A>G (p.Asp3426Gly) c.9455A>G (p.Asp3152Gly) n.12295A>G c.12497A>G (p.Asp4166Gly) c.12425A>G (p.Asp4142Gly) c.12287A>G (p.Asp4096Gly) c.10373A>G (p.Asp3458Gly) | |
16 | g.2090352T>G | CA394324969 | PKD1 | c.12377A>C (p.Asp4126Ala) c.12374A>C (p.Asp4125Ala) n.405A>C c.9332A>C (p.Asp3111Ala) c.12455A>C (p.Asp4152Ala) c.12452A>C (p.Asp4151Ala) c.12437A>C (p.Asp4146Ala) c.12431A>C (p.Asp4144Ala) c.12428A>C (p.Asp4143Ala) c.12401A>C (p.Asp4134Ala) c.12383A>C (p.Asp4128Ala) c.12329A>C (p.Asp4110Ala) c.12248A>C (p.Asp4083Ala) c.12191A>C (p.Asp4064Ala) c.10277A>C (p.Asp3426Ala) c.9455A>C (p.Asp3152Ala) n.12295A>C c.12497A>C (p.Asp4166Ala) c.12425A>C (p.Asp4142Ala) c.12287A>C (p.Asp4096Ala) c.10373A>C (p.Asp3458Ala) | |
16 | g.2090353C>A | CA394324980 | PKD1 | c.12376G>T (p.Asp4126Tyr) c.12373G>T (p.Asp4125Tyr) n.404G>T c.9331G>T (p.Asp3111Tyr) c.12454G>T (p.Asp4152Tyr) c.12451G>T (p.Asp4151Tyr) c.12436G>T (p.Asp4146Tyr) c.12430G>T (p.Asp4144Tyr) c.12427G>T (p.Asp4143Tyr) c.12400G>T (p.Asp4134Tyr) c.12382G>T (p.Asp4128Tyr) c.12328G>T (p.Asp4110Tyr) c.12247G>T (p.Asp4083Tyr) c.12190G>T (p.Asp4064Tyr) c.10276G>T (p.Asp3426Tyr) c.9454G>T (p.Asp3152Tyr) n.12294G>T c.12496G>T (p.Asp4166Tyr) c.12424G>T (p.Asp4142Tyr) c.12286G>T (p.Asp4096Tyr) c.10372G>T (p.Asp3458Tyr) | |
16 | g.2090353C= | CA2202041479 | PKD1 | c.12376G= (p.Asp4126=) c.12373G= (p.Asp4125=) n.404G= c.9331G= (p.Asp3111=) c.12454G= (p.Asp4152=) c.12451G= (p.Asp4151=) c.12436G= (p.Asp4146=) c.12430G= (p.Asp4144=) c.12427G= (p.Asp4143=) c.12400G= (p.Asp4134=) c.12382G= (p.Asp4128=) c.12328G= (p.Asp4110=) c.12247G= (p.Asp4083=) c.12190G= (p.Asp4064=) c.10276G= (p.Asp3426=) c.9454G= (p.Asp3152=) n.12294G= c.12496G= (p.Asp4166=) c.12424G= (p.Asp4142=) c.12286G= (p.Asp4096=) c.10372G= (p.Asp3458=) | |
16 | g.2090353C>G | CA394324988 | PKD1 | c.12376G>C (p.Asp4126His) c.12373G>C (p.Asp4125His) n.404G>C c.9331G>C (p.Asp3111His) c.12454G>C (p.Asp4152His) c.12451G>C (p.Asp4151His) c.12436G>C (p.Asp4146His) c.12430G>C (p.Asp4144His) c.12427G>C (p.Asp4143His) c.12400G>C (p.Asp4134His) c.12382G>C (p.Asp4128His) c.12328G>C (p.Asp4110His) c.12247G>C (p.Asp4083His) c.12190G>C (p.Asp4064His) c.10276G>C (p.Asp3426His) c.9454G>C (p.Asp3152His) n.12294G>C c.12496G>C (p.Asp4166His) c.12424G>C (p.Asp4142His) c.12286G>C (p.Asp4096His) c.10372G>C (p.Asp3458His) | |
16 | g.2090353C>T | CA394324990 | PKD1 | c.12376G>A (p.Asp4126Asn) c.12373G>A (p.Asp4125Asn) n.404G>A c.9331G>A (p.Asp3111Asn) c.12454G>A (p.Asp4152Asn) c.12451G>A (p.Asp4151Asn) c.12436G>A (p.Asp4146Asn) c.12430G>A (p.Asp4144Asn) c.12427G>A (p.Asp4143Asn) c.12400G>A (p.Asp4134Asn) c.12382G>A (p.Asp4128Asn) c.12328G>A (p.Asp4110Asn) c.12247G>A (p.Asp4083Asn) c.12190G>A (p.Asp4064Asn) c.10276G>A (p.Asp3426Asn) c.9454G>A (p.Asp3152Asn) n.12294G>A c.12496G>A (p.Asp4166Asn) c.12424G>A (p.Asp4142Asn) c.12286G>A (p.Asp4096Asn) c.10372G>A (p.Asp3458Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.2090354C>A | CA394324994 | PKD1 | c.12375G>T (p.Gln4125His) c.12372G>T (p.Gln4124His) n.403G>T c.9330G>T (p.Gln3110His) c.12453G>T (p.Gln4151His) c.12450G>T (p.Gln4150His) c.12435G>T (p.Gln4145His) c.12429G>T (p.Gln4143His) c.12426G>T (p.Gln4142His) c.12399G>T (p.Gln4133His) c.12381G>T (p.Gln4127His) c.12327G>T (p.Gln4109His) c.12246G>T (p.Gln4082His) c.12189G>T (p.Gln4063His) c.10275G>T (p.Gln3425His) c.9453G>T (p.Gln3151His) n.12293G>T c.12495G>T (p.Gln4165His) c.12423G>T (p.Gln4141His) c.12285G>T (p.Gln4095His) c.10371G>T (p.Gln3457His) | |
16 | g.2090354C= | CA2202041482 | PKD1 | c.12375G= (p.Gln4125=) c.12372G= (p.Gln4124=) n.403G= c.9330G= (p.Gln3110=) c.12453G= (p.Gln4151=) c.12450G= (p.Gln4150=) c.12435G= (p.Gln4145=) c.12429G= (p.Gln4143=) c.12426G= (p.Gln4142=) c.12399G= (p.Gln4133=) c.12381G= (p.Gln4127=) c.12327G= (p.Gln4109=) c.12246G= (p.Gln4082=) c.12189G= (p.Gln4063=) c.10275G= (p.Gln3425=) c.9453G= (p.Gln3151=) n.12293G= c.12495G= (p.Gln4165=) c.12423G= (p.Gln4141=) c.12285G= (p.Gln4095=) c.10371G= (p.Gln3457=) | |
16 | g.2090354C>G | CA394324997 | PKD1 | c.12375G>C (p.Gln4125His) c.12372G>C (p.Gln4124His) n.403G>C c.9330G>C (p.Gln3110His) c.12453G>C (p.Gln4151His) c.12450G>C (p.Gln4150His) c.12435G>C (p.Gln4145His) c.12429G>C (p.Gln4143His) c.12426G>C (p.Gln4142His) c.12399G>C (p.Gln4133His) c.12381G>C (p.Gln4127His) c.12327G>C (p.Gln4109His) c.12246G>C (p.Gln4082His) c.12189G>C (p.Gln4063His) c.10275G>C (p.Gln3425His) c.9453G>C (p.Gln3151His) n.12293G>C c.12495G>C (p.Gln4165His) c.12423G>C (p.Gln4141His) c.12285G>C (p.Gln4095His) c.10371G>C (p.Gln3457His) | |
16 | g.2090354C>T | CA7828670 | PKD1 | c.12375G>A (p.Gln4125=) c.12372G>A (p.Gln4124=) n.403G>A c.9330G>A (p.Gln3110=) c.12453G>A (p.Gln4151=) c.12450G>A (p.Gln4150=) c.12435G>A (p.Gln4145=) c.12429G>A (p.Gln4143=) c.12426G>A (p.Gln4142=) c.12399G>A (p.Gln4133=) c.12381G>A (p.Gln4127=) c.12327G>A (p.Gln4109=) c.12246G>A (p.Gln4082=) c.12189G>A (p.Gln4063=) c.10275G>A (p.Gln3425=) c.9453G>A (p.Gln3151=) n.12293G>A c.12495G>A (p.Gln4165=) c.12423G>A (p.Gln4141=) c.12285G>A (p.Gln4095=) c.10371G>A (p.Gln3457=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090355T>A | CA394325007 | PKD1 | c.12374A>T (p.Gln4125Leu) c.12371A>T (p.Gln4124Leu) n.402A>T c.9329A>T (p.Gln3110Leu) c.12452A>T (p.Gln4151Leu) c.12449A>T (p.Gln4150Leu) c.12434A>T (p.Gln4145Leu) c.12428A>T (p.Gln4143Leu) c.12425A>T (p.Gln4142Leu) c.12398A>T (p.Gln4133Leu) c.12380A>T (p.Gln4127Leu) c.12326A>T (p.Gln4109Leu) c.12245A>T (p.Gln4082Leu) c.12188A>T (p.Gln4063Leu) c.10274A>T (p.Gln3425Leu) c.9452A>T (p.Gln3151Leu) n.12292A>T c.12494A>T (p.Gln4165Leu) c.12422A>T (p.Gln4141Leu) c.12284A>T (p.Gln4095Leu) c.10370A>T (p.Gln3457Leu) | dbSNP gnomAD v4 |
16 | g.2090355T>C | CA394325011 | PKD1 | c.12374A>G (p.Gln4125Arg) c.12371A>G (p.Gln4124Arg) n.402A>G c.9329A>G (p.Gln3110Arg) c.12452A>G (p.Gln4151Arg) c.12449A>G (p.Gln4150Arg) c.12434A>G (p.Gln4145Arg) c.12428A>G (p.Gln4143Arg) c.12425A>G (p.Gln4142Arg) c.12398A>G (p.Gln4133Arg) c.12380A>G (p.Gln4127Arg) c.12326A>G (p.Gln4109Arg) c.12245A>G (p.Gln4082Arg) c.12188A>G (p.Gln4063Arg) c.10274A>G (p.Gln3425Arg) c.9452A>G (p.Gln3151Arg) n.12292A>G c.12494A>G (p.Gln4165Arg) c.12422A>G (p.Gln4141Arg) c.12284A>G (p.Gln4095Arg) c.10370A>G (p.Gln3457Arg) | gnomAD v4 |
16 | g.2090355T>G | CA394325015 | PKD1 | c.12374A>C (p.Gln4125Pro) c.12371A>C (p.Gln4124Pro) n.402A>C c.9329A>C (p.Gln3110Pro) c.12452A>C (p.Gln4151Pro) c.12449A>C (p.Gln4150Pro) c.12434A>C (p.Gln4145Pro) c.12428A>C (p.Gln4143Pro) c.12425A>C (p.Gln4142Pro) c.12398A>C (p.Gln4133Pro) c.12380A>C (p.Gln4127Pro) c.12326A>C (p.Gln4109Pro) c.12245A>C (p.Gln4082Pro) c.12188A>C (p.Gln4063Pro) c.10274A>C (p.Gln3425Pro) c.9452A>C (p.Gln3151Pro) n.12292A>C c.12494A>C (p.Gln4165Pro) c.12422A>C (p.Gln4141Pro) c.12284A>C (p.Gln4095Pro) c.10370A>C (p.Gln3457Pro) | |
16 | g.2090355T= | CA2202041484 | PKD1 | c.12374A= (p.Gln4125=) c.12371A= (p.Gln4124=) n.402A= c.9329A= (p.Gln3110=) c.12452A= (p.Gln4151=) c.12449A= (p.Gln4150=) c.12434A= (p.Gln4145=) c.12428A= (p.Gln4143=) c.12425A= (p.Gln4142=) c.12398A= (p.Gln4133=) c.12380A= (p.Gln4127=) c.12326A= (p.Gln4109=) c.12245A= (p.Gln4082=) c.12188A= (p.Gln4063=) c.10274A= (p.Gln3425=) c.9452A= (p.Gln3151=) n.12292A= c.12494A= (p.Gln4165=) c.12422A= (p.Gln4141=) c.12284A= (p.Gln4095=) c.10370A= (p.Gln3457=) | |
16 | g.2090356G>A | CA394325017 | PKD1 | c.12373C>T (p.Gln4125Ter) c.12370C>T (p.Gln4124Ter) n.401C>T c.9328C>T (p.Gln3110Ter) c.12451C>T (p.Gln4151Ter) c.12448C>T (p.Gln4150Ter) c.12433C>T (p.Gln4145Ter) c.12427C>T (p.Gln4143Ter) c.12424C>T (p.Gln4142Ter) c.12397C>T (p.Gln4133Ter) c.12379C>T (p.Gln4127Ter) c.12325C>T (p.Gln4109Ter) c.12244C>T (p.Gln4082Ter) c.12187C>T (p.Gln4063Ter) c.10273C>T (p.Gln3425Ter) c.9451C>T (p.Gln3151Ter) n.12291C>T c.12493C>T (p.Gln4165Ter) c.12421C>T (p.Gln4141Ter) c.12283C>T (p.Gln4095Ter) c.10369C>T (p.Gln3457Ter) | ClinVar dbSNP |
16 | g.2090356G>C | CA394325019 | PKD1 | c.12373C>G (p.Gln4125Glu) c.12370C>G (p.Gln4124Glu) n.401C>G c.9328C>G (p.Gln3110Glu) c.12451C>G (p.Gln4151Glu) c.12448C>G (p.Gln4150Glu) c.12433C>G (p.Gln4145Glu) c.12427C>G (p.Gln4143Glu) c.12424C>G (p.Gln4142Glu) c.12397C>G (p.Gln4133Glu) c.12379C>G (p.Gln4127Glu) c.12325C>G (p.Gln4109Glu) c.12244C>G (p.Gln4082Glu) c.12187C>G (p.Gln4063Glu) c.10273C>G (p.Gln3425Glu) c.9451C>G (p.Gln3151Glu) n.12291C>G c.12493C>G (p.Gln4165Glu) c.12421C>G (p.Gln4141Glu) c.12283C>G (p.Gln4095Glu) c.10369C>G (p.Gln3457Glu) | |
16 | g.2090356G= | CA2202041489 | PKD1 | c.12373C= (p.Gln4125=) c.12370C= (p.Gln4124=) n.401C= c.9328C= (p.Gln3110=) c.12451C= (p.Gln4151=) c.12448C= (p.Gln4150=) c.12433C= (p.Gln4145=) c.12427C= (p.Gln4143=) c.12424C= (p.Gln4142=) c.12397C= (p.Gln4133=) c.12379C= (p.Gln4127=) c.12325C= (p.Gln4109=) c.12244C= (p.Gln4082=) c.12187C= (p.Gln4063=) c.10273C= (p.Gln3425=) c.9451C= (p.Gln3151=) n.12291C= c.12493C= (p.Gln4165=) c.12421C= (p.Gln4141=) c.12283C= (p.Gln4095=) c.10369C= (p.Gln3457=) | |
16 | g.2090356G>T | CA394325022 | PKD1 | c.12373C>A (p.Gln4125Lys) c.12370C>A (p.Gln4124Lys) n.401C>A c.9328C>A (p.Gln3110Lys) c.12451C>A (p.Gln4151Lys) c.12448C>A (p.Gln4150Lys) c.12433C>A (p.Gln4145Lys) c.12427C>A (p.Gln4143Lys) c.12424C>A (p.Gln4142Lys) c.12397C>A (p.Gln4133Lys) c.12379C>A (p.Gln4127Lys) c.12325C>A (p.Gln4109Lys) c.12244C>A (p.Gln4082Lys) c.12187C>A (p.Gln4063Lys) c.10273C>A (p.Gln3425Lys) c.9451C>A (p.Gln3151Lys) n.12291C>A c.12493C>A (p.Gln4165Lys) c.12421C>A (p.Gln4141Lys) c.12283C>A (p.Gln4095Lys) c.10369C>A (p.Gln3457Lys) | |
16 | g.2090359del | CA2695221509 | PKD1 | c.12373del (p.Gln4125ArgfsTer?) c.12370del (p.Gln4124ArgfsTer?) n.401del c.9328del (p.Gln3110ArgfsTer?) c.12451del (p.Gln4151ArgfsTer?) c.12448del (p.Gln4150ArgfsTer?) c.12433del (p.Gln4145ArgfsTer?) c.12427del (p.Gln4143ArgfsTer?) c.12424del (p.Gln4142ArgfsTer?) c.12397del (p.Gln4133ArgfsTer?) c.12379del (p.Gln4127ArgfsTer?) c.12325del (p.Gln4109ArgfsTer?) c.12244del (p.Gln4082ArgfsTer?) c.12187del (p.Gln4063ArgfsTer?) c.10273del (p.Gln3425ArgfsTer?) c.9451del (p.Gln3151ArgfsTer?) n.12291del c.12493del (p.Gln4165ArgfsTer?) c.12421del (p.Gln4141ArgfsTer?) c.12283del (p.Gln4095ArgfsTer?) c.10369del (p.Gln3457ArgfsTer?) | |
16 | g.2090357G>A | CA493044255 | PKD1 | c.12372C>T (p.Pro4124=) c.12369C>T (p.Pro4123=) n.400C>T c.9327C>T (p.Pro3109=) c.12450C>T (p.Pro4150=) c.12447C>T (p.Pro4149=) c.12432C>T (p.Pro4144=) c.12426C>T (p.Pro4142=) c.12423C>T (p.Pro4141=) c.12396C>T (p.Pro4132=) c.12378C>T (p.Pro4126=) c.12324C>T (p.Pro4108=) c.12243C>T (p.Pro4081=) c.12186C>T (p.Pro4062=) c.10272C>T (p.Pro3424=) c.9450C>T (p.Pro3150=) n.12290C>T c.12492C>T (p.Pro4164=) c.12420C>T (p.Pro4140=) c.12282C>T (p.Pro4094=) c.10368C>T (p.Pro3456=) | gnomAD v4 |
16 | g.2090357G>C | CA493044254 | PKD1 | c.12372C>G (p.Pro4124=) c.12369C>G (p.Pro4123=) n.400C>G c.9327C>G (p.Pro3109=) c.12450C>G (p.Pro4150=) c.12447C>G (p.Pro4149=) c.12432C>G (p.Pro4144=) c.12426C>G (p.Pro4142=) c.12423C>G (p.Pro4141=) c.12396C>G (p.Pro4132=) c.12378C>G (p.Pro4126=) c.12324C>G (p.Pro4108=) c.12243C>G (p.Pro4081=) c.12186C>G (p.Pro4062=) c.10272C>G (p.Pro3424=) c.9450C>G (p.Pro3150=) n.12290C>G c.12492C>G (p.Pro4164=) c.12420C>G (p.Pro4140=) c.12282C>G (p.Pro4094=) c.10368C>G (p.Pro3456=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2090357G= | CA2202041495 | PKD1 | c.12372C= (p.Pro4124=) c.12369C= (p.Pro4123=) n.400C= c.9327C= (p.Pro3109=) c.12450C= (p.Pro4150=) c.12447C= (p.Pro4149=) c.12432C= (p.Pro4144=) c.12426C= (p.Pro4142=) c.12423C= (p.Pro4141=) c.12396C= (p.Pro4132=) c.12378C= (p.Pro4126=) c.12324C= (p.Pro4108=) c.12243C= (p.Pro4081=) c.12186C= (p.Pro4062=) c.10272C= (p.Pro3424=) c.9450C= (p.Pro3150=) n.12290C= c.12492C= (p.Pro4164=) c.12420C= (p.Pro4140=) c.12282C= (p.Pro4094=) c.10368C= (p.Pro3456=) | |
16 | g.2090357G>T | CA7828671 | PKD1 | c.12372C>A (p.Pro4124=) c.12369C>A (p.Pro4123=) n.400C>A c.9327C>A (p.Pro3109=) c.12450C>A (p.Pro4150=) c.12447C>A (p.Pro4149=) c.12432C>A (p.Pro4144=) c.12426C>A (p.Pro4142=) c.12423C>A (p.Pro4141=) c.12396C>A (p.Pro4132=) c.12378C>A (p.Pro4126=) c.12324C>A (p.Pro4108=) c.12243C>A (p.Pro4081=) c.12186C>A (p.Pro4062=) c.10272C>A (p.Pro3424=) c.9450C>A (p.Pro3150=) n.12290C>A c.12492C>A (p.Pro4164=) c.12420C>A (p.Pro4140=) c.12282C>A (p.Pro4094=) c.10368C>A (p.Pro3456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090358G>A | CA394325029 | PKD1 | c.12371C>T (p.Pro4124Leu) c.12368C>T (p.Pro4123Leu) n.399C>T c.9326C>T (p.Pro3109Leu) c.12449C>T (p.Pro4150Leu) c.12446C>T (p.Pro4149Leu) c.12431C>T (p.Pro4144Leu) c.12425C>T (p.Pro4142Leu) c.12422C>T (p.Pro4141Leu) c.12395C>T (p.Pro4132Leu) c.12377C>T (p.Pro4126Leu) c.12323C>T (p.Pro4108Leu) c.12242C>T (p.Pro4081Leu) c.12185C>T (p.Pro4062Leu) c.10271C>T (p.Pro3424Leu) c.9449C>T (p.Pro3150Leu) n.12289C>T c.12491C>T (p.Pro4164Leu) c.12419C>T (p.Pro4140Leu) c.12281C>T (p.Pro4094Leu) c.10367C>T (p.Pro3456Leu) | |
16 | g.2090358G>C | CA394325034 | PKD1 | c.12371C>G (p.Pro4124Arg) c.12368C>G (p.Pro4123Arg) n.399C>G c.9326C>G (p.Pro3109Arg) c.12449C>G (p.Pro4150Arg) c.12446C>G (p.Pro4149Arg) c.12431C>G (p.Pro4144Arg) c.12425C>G (p.Pro4142Arg) c.12422C>G (p.Pro4141Arg) c.12395C>G (p.Pro4132Arg) c.12377C>G (p.Pro4126Arg) c.12323C>G (p.Pro4108Arg) c.12242C>G (p.Pro4081Arg) c.12185C>G (p.Pro4062Arg) c.10271C>G (p.Pro3424Arg) c.9449C>G (p.Pro3150Arg) n.12289C>G c.12491C>G (p.Pro4164Arg) c.12419C>G (p.Pro4140Arg) c.12281C>G (p.Pro4094Arg) c.10367C>G (p.Pro3456Arg) | |
16 | g.2090358G>T | CA394325032 | PKD1 | c.12371C>A (p.Pro4124His) c.12368C>A (p.Pro4123His) n.399C>A c.9326C>A (p.Pro3109His) c.12449C>A (p.Pro4150His) c.12446C>A (p.Pro4149His) c.12431C>A (p.Pro4144His) c.12425C>A (p.Pro4142His) c.12422C>A (p.Pro4141His) c.12395C>A (p.Pro4132His) c.12377C>A (p.Pro4126His) c.12323C>A (p.Pro4108His) c.12242C>A (p.Pro4081His) c.12185C>A (p.Pro4062His) c.10271C>A (p.Pro3424His) c.9449C>A (p.Pro3150His) n.12289C>A c.12491C>A (p.Pro4164His) c.12419C>A (p.Pro4140His) c.12281C>A (p.Pro4094His) c.10367C>A (p.Pro3456His) | |
16 | g.2090359G>A | CA394325038 | PKD1 | c.12370C>T (p.Pro4124Ser) c.12367C>T (p.Pro4123Ser) n.398C>T c.9325C>T (p.Pro3109Ser) c.12448C>T (p.Pro4150Ser) c.12445C>T (p.Pro4149Ser) c.12430C>T (p.Pro4144Ser) c.12424C>T (p.Pro4142Ser) c.12421C>T (p.Pro4141Ser) c.12394C>T (p.Pro4132Ser) c.12376C>T (p.Pro4126Ser) c.12322C>T (p.Pro4108Ser) c.12241C>T (p.Pro4081Ser) c.12184C>T (p.Pro4062Ser) c.10270C>T (p.Pro3424Ser) c.9448C>T (p.Pro3150Ser) n.12288C>T c.12490C>T (p.Pro4164Ser) c.12418C>T (p.Pro4140Ser) c.12280C>T (p.Pro4094Ser) c.10366C>T (p.Pro3456Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2090359G>C | CA394325041 | PKD1 | c.12370C>G (p.Pro4124Ala) c.12367C>G (p.Pro4123Ala) n.398C>G c.9325C>G (p.Pro3109Ala) c.12448C>G (p.Pro4150Ala) c.12445C>G (p.Pro4149Ala) c.12430C>G (p.Pro4144Ala) c.12424C>G (p.Pro4142Ala) c.12421C>G (p.Pro4141Ala) c.12394C>G (p.Pro4132Ala) c.12376C>G (p.Pro4126Ala) c.12322C>G (p.Pro4108Ala) c.12241C>G (p.Pro4081Ala) c.12184C>G (p.Pro4062Ala) c.10270C>G (p.Pro3424Ala) c.9448C>G (p.Pro3150Ala) n.12288C>G c.12490C>G (p.Pro4164Ala) c.12418C>G (p.Pro4140Ala) c.12280C>G (p.Pro4094Ala) c.10366C>G (p.Pro3456Ala) | |
16 | g.2090359G= | CA2202041503 | PKD1 | c.12370C= (p.Pro4124=) c.12367C= (p.Pro4123=) n.398C= c.9325C= (p.Pro3109=) c.12448C= (p.Pro4150=) c.12445C= (p.Pro4149=) c.12430C= (p.Pro4144=) c.12424C= (p.Pro4142=) c.12421C= (p.Pro4141=) c.12394C= (p.Pro4132=) c.12376C= (p.Pro4126=) c.12322C= (p.Pro4108=) c.12241C= (p.Pro4081=) c.12184C= (p.Pro4062=) c.10270C= (p.Pro3424=) c.9448C= (p.Pro3150=) n.12288C= c.12490C= (p.Pro4164=) c.12418C= (p.Pro4140=) c.12280C= (p.Pro4094=) c.10366C= (p.Pro3456=) | |
16 | g.2090359G>T | CA394325044 | PKD1 | c.12370C>A (p.Pro4124Thr) c.12367C>A (p.Pro4123Thr) n.398C>A c.9325C>A (p.Pro3109Thr) c.12448C>A (p.Pro4150Thr) c.12445C>A (p.Pro4149Thr) c.12430C>A (p.Pro4144Thr) c.12424C>A (p.Pro4142Thr) c.12421C>A (p.Pro4141Thr) c.12394C>A (p.Pro4132Thr) c.12376C>A (p.Pro4126Thr) c.12322C>A (p.Pro4108Thr) c.12241C>A (p.Pro4081Thr) c.12184C>A (p.Pro4062Thr) c.10270C>A (p.Pro3424Thr) c.9448C>A (p.Pro3150Thr) n.12288C>A c.12490C>A (p.Pro4164Thr) c.12418C>A (p.Pro4140Thr) c.12280C>A (p.Pro4094Thr) c.10366C>A (p.Pro3456Thr) | dbSNP |
16 | g.2090360C>A | CA7828672 | PKD1 | c.12369G>T (p.Glu4123Asp) c.12366G>T (p.Glu4122Asp) n.397G>T c.9324G>T (p.Glu3108Asp) c.12447G>T (p.Glu4149Asp) c.12444G>T (p.Glu4148Asp) c.12429G>T (p.Glu4143Asp) c.12423G>T (p.Glu4141Asp) c.12420G>T (p.Glu4140Asp) c.12393G>T (p.Glu4131Asp) c.12375G>T (p.Glu4125Asp) c.12321G>T (p.Glu4107Asp) c.12240G>T (p.Glu4080Asp) c.12183G>T (p.Glu4061Asp) c.10269G>T (p.Glu3423Asp) c.9447G>T (p.Glu3149Asp) n.12287G>T c.12489G>T (p.Glu4163Asp) c.12417G>T (p.Glu4139Asp) c.12279G>T (p.Glu4093Asp) c.10365G>T (p.Glu3455Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2090360C= | CA2202041506 | PKD1 | c.12369G= (p.Glu4123=) c.12366G= (p.Glu4122=) n.397G= c.9324G= (p.Glu3108=) c.12447G= (p.Glu4149=) c.12444G= (p.Glu4148=) c.12429G= (p.Glu4143=) c.12423G= (p.Glu4141=) c.12420G= (p.Glu4140=) c.12393G= (p.Glu4131=) c.12375G= (p.Glu4125=) c.12321G= (p.Glu4107=) c.12240G= (p.Glu4080=) c.12183G= (p.Glu4061=) c.10269G= (p.Glu3423=) c.9447G= (p.Glu3149=) n.12287G= c.12489G= (p.Glu4163=) c.12417G= (p.Glu4139=) c.12279G= (p.Glu4093=) c.10365G= (p.Glu3455=) | |
16 | g.2090360C>G | CA394325051 | PKD1 | c.12369G>C (p.Glu4123Asp) c.12366G>C (p.Glu4122Asp) n.397G>C c.9324G>C (p.Glu3108Asp) c.12447G>C (p.Glu4149Asp) c.12444G>C (p.Glu4148Asp) c.12429G>C (p.Glu4143Asp) c.12423G>C (p.Glu4141Asp) c.12420G>C (p.Glu4140Asp) c.12393G>C (p.Glu4131Asp) c.12375G>C (p.Glu4125Asp) c.12321G>C (p.Glu4107Asp) c.12240G>C (p.Glu4080Asp) c.12183G>C (p.Glu4061Asp) c.10269G>C (p.Glu3423Asp) c.9447G>C (p.Glu3149Asp) n.12287G>C c.12489G>C (p.Glu4163Asp) c.12417G>C (p.Glu4139Asp) c.12279G>C (p.Glu4093Asp) c.10365G>C (p.Glu3455Asp) | |
16 | g.2090360C>T | CA493044264 | PKD1 | c.12369G>A (p.Glu4123=) c.12366G>A (p.Glu4122=) n.397G>A c.9324G>A (p.Glu3108=) c.12447G>A (p.Glu4149=) c.12444G>A (p.Glu4148=) c.12429G>A (p.Glu4143=) c.12423G>A (p.Glu4141=) c.12420G>A (p.Glu4140=) c.12393G>A (p.Glu4131=) c.12375G>A (p.Glu4125=) c.12321G>A (p.Glu4107=) c.12240G>A (p.Glu4080=) c.12183G>A (p.Glu4061=) c.10269G>A (p.Glu3423=) c.9447G>A (p.Glu3149=) n.12287G>A c.12489G>A (p.Glu4163=) c.12417G>A (p.Glu4139=) c.12279G>A (p.Glu4093=) c.10365G>A (p.Glu3455=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2090361T>A | CA394325056 | PKD1 | c.12368A>T (p.Glu4123Val) c.12365A>T (p.Glu4122Val) n.396A>T c.9323A>T (p.Glu3108Val) c.12446A>T (p.Glu4149Val) c.12443A>T (p.Glu4148Val) c.12428A>T (p.Glu4143Val) c.12422A>T (p.Glu4141Val) c.12419A>T (p.Glu4140Val) c.12392A>T (p.Glu4131Val) c.12374A>T (p.Glu4125Val) c.12320A>T (p.Glu4107Val) c.12239A>T (p.Glu4080Val) c.12182A>T (p.Glu4061Val) c.10268A>T (p.Glu3423Val) c.9446A>T (p.Glu3149Val) n.12286A>T c.12488A>T (p.Glu4163Val) c.12416A>T (p.Glu4139Val) c.12278A>T (p.Glu4093Val) c.10364A>T (p.Glu3455Val) | |
16 | g.2090361T>C | CA394325060 | PKD1 | c.12368A>G (p.Glu4123Gly) c.12365A>G (p.Glu4122Gly) n.396A>G c.9323A>G (p.Glu3108Gly) c.12446A>G (p.Glu4149Gly) c.12443A>G (p.Glu4148Gly) c.12428A>G (p.Glu4143Gly) c.12422A>G (p.Glu4141Gly) c.12419A>G (p.Glu4140Gly) c.12392A>G (p.Glu4131Gly) c.12374A>G (p.Glu4125Gly) c.12320A>G (p.Glu4107Gly) c.12239A>G (p.Glu4080Gly) c.12182A>G (p.Glu4061Gly) c.10268A>G (p.Glu3423Gly) c.9446A>G (p.Glu3149Gly) n.12286A>G c.12488A>G (p.Glu4163Gly) c.12416A>G (p.Glu4139Gly) c.12278A>G (p.Glu4093Gly) c.10364A>G (p.Glu3455Gly) | |
16 | g.2090361T>G | CA394325063 | PKD1 | c.12368A>C (p.Glu4123Ala) c.12365A>C (p.Glu4122Ala) n.396A>C c.9323A>C (p.Glu3108Ala) c.12446A>C (p.Glu4149Ala) c.12443A>C (p.Glu4148Ala) c.12428A>C (p.Glu4143Ala) c.12422A>C (p.Glu4141Ala) c.12419A>C (p.Glu4140Ala) c.12392A>C (p.Glu4131Ala) c.12374A>C (p.Glu4125Ala) c.12320A>C (p.Glu4107Ala) c.12239A>C (p.Glu4080Ala) c.12182A>C (p.Glu4061Ala) c.10268A>C (p.Glu3423Ala) c.9446A>C (p.Glu3149Ala) n.12286A>C c.12488A>C (p.Glu4163Ala) c.12416A>C (p.Glu4139Ala) c.12278A>C (p.Glu4093Ala) c.10364A>C (p.Glu3455Ala) | |
16 | g.2090361dup | CA2695221511 | PKD1 | c.12368dup (p.Pro4124AlafsTer?) c.12365dup (p.Pro4123AlafsTer?) n.396dup c.9323dup (p.Pro3109AlafsTer?) c.12446dup (p.Pro4150AlafsTer?) c.12443dup (p.Pro4149AlafsTer?) c.12428dup (p.Pro4144AlafsTer?) c.12422dup (p.Pro4142AlafsTer?) c.12419dup (p.Pro4141AlafsTer?) c.12392dup (p.Pro4132AlafsTer?) c.12374dup (p.Pro4126AlafsTer?) c.12320dup (p.Pro4108AlafsTer?) c.12239dup (p.Pro4081AlafsTer?) c.12182dup (p.Pro4062AlafsTer?) c.10268dup (p.Pro3424AlafsTer?) c.9446dup (p.Pro3150AlafsTer?) n.12286dup c.12488dup (p.Pro4164AlafsTer?) c.12416dup (p.Pro4140AlafsTer?) c.12278dup (p.Pro4094AlafsTer?) c.10364dup (p.Pro3456AlafsTer?) | |
16 | g.2090362C>A | CA394325066 | PKD1 | c.12367G>T (p.Glu4123Ter) c.12364G>T (p.Glu4122Ter) n.395G>T c.9322G>T (p.Glu3108Ter) c.12445G>T (p.Glu4149Ter) c.12442G>T (p.Glu4148Ter) c.12427G>T (p.Glu4143Ter) c.12421G>T (p.Glu4141Ter) c.12418G>T (p.Glu4140Ter) c.12391G>T (p.Glu4131Ter) c.12373G>T (p.Glu4125Ter) c.12319G>T (p.Glu4107Ter) c.12238G>T (p.Glu4080Ter) c.12181G>T (p.Glu4061Ter) c.10267G>T (p.Glu3423Ter) c.9445G>T (p.Glu3149Ter) n.12285G>T c.12487G>T (p.Glu4163Ter) c.12415G>T (p.Glu4139Ter) c.12277G>T (p.Glu4093Ter) c.10363G>T (p.Glu3455Ter) | |
16 | g.2090362C= | CA2202041509 | PKD1 | c.12367G= (p.Glu4123=) c.12364G= (p.Glu4122=) n.395G= c.9322G= (p.Glu3108=) c.12445G= (p.Glu4149=) c.12442G= (p.Glu4148=) c.12427G= (p.Glu4143=) c.12421G= (p.Glu4141=) c.12418G= (p.Glu4140=) c.12391G= (p.Glu4131=) c.12373G= (p.Glu4125=) c.12319G= (p.Glu4107=) c.12238G= (p.Glu4080=) c.12181G= (p.Glu4061=) c.10267G= (p.Glu3423=) c.9445G= (p.Glu3149=) n.12285G= c.12487G= (p.Glu4163=) c.12415G= (p.Glu4139=) c.12277G= (p.Glu4093=) c.10363G= (p.Glu3455=) | |
16 | g.2090362C>G | CA394325068 | PKD1 | c.12367G>C (p.Glu4123Gln) c.12364G>C (p.Glu4122Gln) n.395G>C c.9322G>C (p.Glu3108Gln) c.12445G>C (p.Glu4149Gln) c.12442G>C (p.Glu4148Gln) c.12427G>C (p.Glu4143Gln) c.12421G>C (p.Glu4141Gln) c.12418G>C (p.Glu4140Gln) c.12391G>C (p.Glu4131Gln) c.12373G>C (p.Glu4125Gln) c.12319G>C (p.Glu4107Gln) c.12238G>C (p.Glu4080Gln) c.12181G>C (p.Glu4061Gln) c.10267G>C (p.Glu3423Gln) c.9445G>C (p.Glu3149Gln) n.12285G>C c.12487G>C (p.Glu4163Gln) c.12415G>C (p.Glu4139Gln) c.12277G>C (p.Glu4093Gln) c.10363G>C (p.Glu3455Gln) | |
16 | g.2090362C>T | CA394325069 | PKD1 | c.12367G>A (p.Glu4123Lys) c.12364G>A (p.Glu4122Lys) n.395G>A c.9322G>A (p.Glu3108Lys) c.12445G>A (p.Glu4149Lys) c.12442G>A (p.Glu4148Lys) c.12427G>A (p.Glu4143Lys) c.12421G>A (p.Glu4141Lys) c.12418G>A (p.Glu4140Lys) c.12391G>A (p.Glu4131Lys) c.12373G>A (p.Glu4125Lys) c.12319G>A (p.Glu4107Lys) c.12238G>A (p.Glu4080Lys) c.12181G>A (p.Glu4061Lys) c.10267G>A (p.Glu3423Lys) c.9445G>A (p.Glu3149Lys) n.12285G>A c.12487G>A (p.Glu4163Lys) c.12415G>A (p.Glu4139Lys) c.12277G>A (p.Glu4093Lys) c.10363G>A (p.Glu3455Lys) | dbSNP gnomAD v4 |
16 | g.2090364del | CA2695221512 | PKD1 | c.12367del (p.Glu4123SerfsTer?) c.12364del (p.Glu4122SerfsTer?) n.395del c.9322del (p.Glu3108SerfsTer?) c.12445del (p.Glu4149SerfsTer?) c.12442del (p.Glu4148SerfsTer?) c.12427del (p.Glu4143SerfsTer?) c.12421del (p.Glu4141SerfsTer?) c.12418del (p.Glu4140SerfsTer?) c.12391del (p.Glu4131SerfsTer?) c.12373del (p.Glu4125SerfsTer?) c.12319del (p.Glu4107SerfsTer?) c.12238del (p.Glu4080SerfsTer?) c.12181del (p.Glu4061SerfsTer?) c.10267del (p.Glu3423SerfsTer?) c.9445del (p.Glu3149SerfsTer?) n.12285del c.12487del (p.Glu4163SerfsTer?) c.12415del (p.Glu4139SerfsTer?) c.12277del (p.Glu4093SerfsTer?) c.10363del (p.Glu3455SerfsTer?) | |
16 | g.2090363C>A | CA394325077 | PKD1 | c.12366G>T (p.Trp4122Cys) c.12363G>T (p.Trp4121Cys) n.394G>T c.9321G>T (p.Trp3107Cys) c.12444G>T (p.Trp4148Cys) c.12441G>T (p.Trp4147Cys) c.12426G>T (p.Trp4142Cys) c.12420G>T (p.Trp4140Cys) c.12417G>T (p.Trp4139Cys) c.12390G>T (p.Trp4130Cys) c.12372G>T (p.Trp4124Cys) c.12318G>T (p.Trp4106Cys) c.12237G>T (p.Trp4079Cys) c.12180G>T (p.Trp4060Cys) c.10266G>T (p.Trp3422Cys) c.9444G>T (p.Trp3148Cys) n.12284G>T c.12486G>T (p.Trp4162Cys) c.12414G>T (p.Trp4138Cys) c.12276G>T (p.Trp4092Cys) c.10362G>T (p.Trp3454Cys) | |
16 | g.2090363C>G | CA394325079 | PKD1 | c.12366G>C (p.Trp4122Cys) c.12363G>C (p.Trp4121Cys) n.394G>C c.9321G>C (p.Trp3107Cys) c.12444G>C (p.Trp4148Cys) c.12441G>C (p.Trp4147Cys) c.12426G>C (p.Trp4142Cys) c.12420G>C (p.Trp4140Cys) c.12417G>C (p.Trp4139Cys) c.12390G>C (p.Trp4130Cys) c.12372G>C (p.Trp4124Cys) c.12318G>C (p.Trp4106Cys) c.12237G>C (p.Trp4079Cys) c.12180G>C (p.Trp4060Cys) c.10266G>C (p.Trp3422Cys) c.9444G>C (p.Trp3148Cys) n.12284G>C c.12486G>C (p.Trp4162Cys) c.12414G>C (p.Trp4138Cys) c.12276G>C (p.Trp4092Cys) c.10362G>C (p.Trp3454Cys) | |
16 | g.2090363C>T | CA394325076 | PKD1 | c.12366G>A (p.Trp4122Ter) c.12363G>A (p.Trp4121Ter) n.394G>A c.9321G>A (p.Trp3107Ter) c.12444G>A (p.Trp4148Ter) c.12441G>A (p.Trp4147Ter) c.12426G>A (p.Trp4142Ter) c.12420G>A (p.Trp4140Ter) c.12417G>A (p.Trp4139Ter) c.12390G>A (p.Trp4130Ter) c.12372G>A (p.Trp4124Ter) c.12318G>A (p.Trp4106Ter) c.12237G>A (p.Trp4079Ter) c.12180G>A (p.Trp4060Ter) c.10266G>A (p.Trp3422Ter) c.9444G>A (p.Trp3148Ter) n.12284G>A c.12486G>A (p.Trp4162Ter) c.12414G>A (p.Trp4138Ter) c.12276G>A (p.Trp4092Ter) c.10362G>A (p.Trp3454Ter) | |
16 | g.2090364C>A | CA394325088 | PKD1 | c.12365G>T (p.Trp4122Leu) c.12362G>T (p.Trp4121Leu) n.393G>T c.9320G>T (p.Trp3107Leu) c.12443G>T (p.Trp4148Leu) c.12440G>T (p.Trp4147Leu) c.12425G>T (p.Trp4142Leu) c.12419G>T (p.Trp4140Leu) c.12416G>T (p.Trp4139Leu) c.12389G>T (p.Trp4130Leu) c.12371G>T (p.Trp4124Leu) c.12317G>T (p.Trp4106Leu) c.12236G>T (p.Trp4079Leu) c.12179G>T (p.Trp4060Leu) c.10265G>T (p.Trp3422Leu) c.9443G>T (p.Trp3148Leu) n.12283G>T c.12485G>T (p.Trp4162Leu) c.12413G>T (p.Trp4138Leu) c.12275G>T (p.Trp4092Leu) c.10361G>T (p.Trp3454Leu) | |
16 | g.2090364C= | CA2202041516 | PKD1 | c.12365G= (p.Trp4122=) c.12362G= (p.Trp4121=) n.393G= c.9320G= (p.Trp3107=) c.12443G= (p.Trp4148=) c.12440G= (p.Trp4147=) c.12425G= (p.Trp4142=) c.12419G= (p.Trp4140=) c.12416G= (p.Trp4139=) c.12389G= (p.Trp4130=) c.12371G= (p.Trp4124=) c.12317G= (p.Trp4106=) c.12236G= (p.Trp4079=) c.12179G= (p.Trp4060=) c.10265G= (p.Trp3422=) c.9443G= (p.Trp3148=) n.12283G= c.12485G= (p.Trp4162=) c.12413G= (p.Trp4138=) c.12275G= (p.Trp4092=) c.10361G= (p.Trp3454=) | |
16 | g.2090364C>G | CA394325082 | PKD1 | c.12365G>C (p.Trp4122Ser) c.12362G>C (p.Trp4121Ser) n.393G>C c.9320G>C (p.Trp3107Ser) c.12443G>C (p.Trp4148Ser) c.12440G>C (p.Trp4147Ser) c.12425G>C (p.Trp4142Ser) c.12419G>C (p.Trp4140Ser) c.12416G>C (p.Trp4139Ser) c.12389G>C (p.Trp4130Ser) c.12371G>C (p.Trp4124Ser) c.12317G>C (p.Trp4106Ser) c.12236G>C (p.Trp4079Ser) c.12179G>C (p.Trp4060Ser) c.10265G>C (p.Trp3422Ser) c.9443G>C (p.Trp3148Ser) n.12283G>C c.12485G>C (p.Trp4162Ser) c.12413G>C (p.Trp4138Ser) c.12275G>C (p.Trp4092Ser) c.10361G>C (p.Trp3454Ser) | |
16 | g.2090364C>T | CA394325084 | PKD1 | c.12365G>A (p.Trp4122Ter) c.12362G>A (p.Trp4121Ter) n.393G>A c.9320G>A (p.Trp3107Ter) c.12443G>A (p.Trp4148Ter) c.12440G>A (p.Trp4147Ter) c.12425G>A (p.Trp4142Ter) c.12419G>A (p.Trp4140Ter) c.12416G>A (p.Trp4139Ter) c.12389G>A (p.Trp4130Ter) c.12371G>A (p.Trp4124Ter) c.12317G>A (p.Trp4106Ter) c.12236G>A (p.Trp4079Ter) c.12179G>A (p.Trp4060Ter) c.10265G>A (p.Trp3422Ter) c.9443G>A (p.Trp3148Ter) n.12283G>A c.12485G>A (p.Trp4162Ter) c.12413G>A (p.Trp4138Ter) c.12275G>A (p.Trp4092Ter) c.10361G>A (p.Trp3454Ter) | ClinVar dbSNP |
16 | g.2090365A>C | CA394325092 | PKD1 | c.12364T>G (p.Trp4122Gly) c.12361T>G (p.Trp4121Gly) n.392T>G c.9319T>G (p.Trp3107Gly) c.12442T>G (p.Trp4148Gly) c.12439T>G (p.Trp4147Gly) c.12424T>G (p.Trp4142Gly) c.12418T>G (p.Trp4140Gly) c.12415T>G (p.Trp4139Gly) c.12388T>G (p.Trp4130Gly) c.12370T>G (p.Trp4124Gly) c.12316T>G (p.Trp4106Gly) c.12235T>G (p.Trp4079Gly) c.12178T>G (p.Trp4060Gly) c.10264T>G (p.Trp3422Gly) c.9442T>G (p.Trp3148Gly) n.12282T>G c.12484T>G (p.Trp4162Gly) c.12412T>G (p.Trp4138Gly) c.12274T>G (p.Trp4092Gly) c.10360T>G (p.Trp3454Gly) | |
16 | g.2090365A>G | CA394325095 | PKD1 | c.12364T>C (p.Trp4122Arg) c.12361T>C (p.Trp4121Arg) n.392T>C c.9319T>C (p.Trp3107Arg) c.12442T>C (p.Trp4148Arg) c.12439T>C (p.Trp4147Arg) c.12424T>C (p.Trp4142Arg) c.12418T>C (p.Trp4140Arg) c.12415T>C (p.Trp4139Arg) c.12388T>C (p.Trp4130Arg) c.12370T>C (p.Trp4124Arg) c.12316T>C (p.Trp4106Arg) c.12235T>C (p.Trp4079Arg) c.12178T>C (p.Trp4060Arg) c.10264T>C (p.Trp3422Arg) c.9442T>C (p.Trp3148Arg) n.12282T>C c.12484T>C (p.Trp4162Arg) c.12412T>C (p.Trp4138Arg) c.12274T>C (p.Trp4092Arg) c.10360T>C (p.Trp3454Arg) | gnomAD v4 |
16 | g.2090365A>T | CA394325096 | PKD1 | c.12364T>A (p.Trp4122Arg) c.12361T>A (p.Trp4121Arg) n.392T>A c.9319T>A (p.Trp3107Arg) c.12442T>A (p.Trp4148Arg) c.12439T>A (p.Trp4147Arg) c.12424T>A (p.Trp4142Arg) c.12418T>A (p.Trp4140Arg) c.12415T>A (p.Trp4139Arg) c.12388T>A (p.Trp4130Arg) c.12370T>A (p.Trp4124Arg) c.12316T>A (p.Trp4106Arg) c.12235T>A (p.Trp4079Arg) c.12178T>A (p.Trp4060Arg) c.10264T>A (p.Trp3422Arg) c.9442T>A (p.Trp3148Arg) n.12282T>A c.12484T>A (p.Trp4162Arg) c.12412T>A (p.Trp4138Arg) c.12274T>A (p.Trp4092Arg) c.10360T>A (p.Trp3454Arg) | |
16 | g.2090366G>A | CA493044273 | PKD1 | c.12363C>T (p.Ala4121=) c.12360C>T (p.Ala4120=) n.391C>T c.9318C>T (p.Ala3106=) c.12441C>T (p.Ala4147=) c.12438C>T (p.Ala4146=) c.12423C>T (p.Ala4141=) c.12417C>T (p.Ala4139=) c.12414C>T (p.Ala4138=) c.12387C>T (p.Ala4129=) c.12369C>T (p.Ala4123=) c.12315C>T (p.Ala4105=) c.12234C>T (p.Ala4078=) c.12177C>T (p.Ala4059=) c.10263C>T (p.Ala3421=) c.9441C>T (p.Ala3147=) n.12281C>T c.12483C>T (p.Ala4161=) c.12411C>T (p.Ala4137=) c.12273C>T (p.Ala4091=) c.10359C>T (p.Ala3453=) | dbSNP gnomAD v4 |
16 | g.2090366G>C | CA276764027 | PKD1 | c.12363C>G (p.Ala4121=) c.12360C>G (p.Ala4120=) n.391C>G c.9318C>G (p.Ala3106=) c.12441C>G (p.Ala4147=) c.12438C>G (p.Ala4146=) c.12423C>G (p.Ala4141=) c.12417C>G (p.Ala4139=) c.12414C>G (p.Ala4138=) c.12387C>G (p.Ala4129=) c.12369C>G (p.Ala4123=) c.12315C>G (p.Ala4105=) c.12234C>G (p.Ala4078=) c.12177C>G (p.Ala4059=) c.10263C>G (p.Ala3421=) c.9441C>G (p.Ala3147=) n.12281C>G c.12483C>G (p.Ala4161=) c.12411C>G (p.Ala4137=) c.12273C>G (p.Ala4091=) c.10359C>G (p.Ala3453=) | dbSNP gnomAD v4 |
16 | g.2090366G= | CA2202041521 | PKD1 | c.12363C= (p.Ala4121=) c.12360C= (p.Ala4120=) n.391C= c.9318C= (p.Ala3106=) c.12441C= (p.Ala4147=) c.12438C= (p.Ala4146=) c.12423C= (p.Ala4141=) c.12417C= (p.Ala4139=) c.12414C= (p.Ala4138=) c.12387C= (p.Ala4129=) c.12369C= (p.Ala4123=) c.12315C= (p.Ala4105=) c.12234C= (p.Ala4078=) c.12177C= (p.Ala4059=) c.10263C= (p.Ala3421=) c.9441C= (p.Ala3147=) n.12281C= c.12483C= (p.Ala4161=) c.12411C= (p.Ala4137=) c.12273C= (p.Ala4091=) c.10359C= (p.Ala3453=) | |
16 | g.2090366G>T | CA493044274 | PKD1 | c.12363C>A (p.Ala4121=) c.12360C>A (p.Ala4120=) n.391C>A c.9318C>A (p.Ala3106=) c.12441C>A (p.Ala4147=) c.12438C>A (p.Ala4146=) c.12423C>A (p.Ala4141=) c.12417C>A (p.Ala4139=) c.12414C>A (p.Ala4138=) c.12387C>A (p.Ala4129=) c.12369C>A (p.Ala4123=) c.12315C>A (p.Ala4105=) c.12234C>A (p.Ala4078=) c.12177C>A (p.Ala4059=) c.10263C>A (p.Ala3421=) c.9441C>A (p.Ala3147=) n.12281C>A c.12483C>A (p.Ala4161=) c.12411C>A (p.Ala4137=) c.12273C>A (p.Ala4091=) c.10359C>A (p.Ala3453=) | |
16 | g.2090367G>A | CA394325097 | PKD1 | c.12362C>T (p.Ala4121Val) c.12359C>T (p.Ala4120Val) n.390C>T c.9317C>T (p.Ala3106Val) c.12440C>T (p.Ala4147Val) c.12437C>T (p.Ala4146Val) c.12422C>T (p.Ala4141Val) c.12416C>T (p.Ala4139Val) c.12413C>T (p.Ala4138Val) c.12386C>T (p.Ala4129Val) c.12368C>T (p.Ala4123Val) c.12314C>T (p.Ala4105Val) c.12233C>T (p.Ala4078Val) c.12176C>T (p.Ala4059Val) c.10262C>T (p.Ala3421Val) c.9440C>T (p.Ala3147Val) n.12280C>T c.12482C>T (p.Ala4161Val) c.12410C>T (p.Ala4137Val) c.12272C>T (p.Ala4091Val) c.10358C>T (p.Ala3453Val) | gnomAD v4 |
16 | g.2090367G>C | CA394325098 | PKD1 | c.12362C>G (p.Ala4121Gly) c.12359C>G (p.Ala4120Gly) n.390C>G c.9317C>G (p.Ala3106Gly) c.12440C>G (p.Ala4147Gly) c.12437C>G (p.Ala4146Gly) c.12422C>G (p.Ala4141Gly) c.12416C>G (p.Ala4139Gly) c.12413C>G (p.Ala4138Gly) c.12386C>G (p.Ala4129Gly) c.12368C>G (p.Ala4123Gly) c.12314C>G (p.Ala4105Gly) c.12233C>G (p.Ala4078Gly) c.12176C>G (p.Ala4059Gly) c.10262C>G (p.Ala3421Gly) c.9440C>G (p.Ala3147Gly) n.12280C>G c.12482C>G (p.Ala4161Gly) c.12410C>G (p.Ala4137Gly) c.12272C>G (p.Ala4091Gly) c.10358C>G (p.Ala3453Gly) | |
16 | g.2090367G= | CA2202041524 | PKD1 | c.12362C= (p.Ala4121=) c.12359C= (p.Ala4120=) n.390C= c.9317C= (p.Ala3106=) c.12440C= (p.Ala4147=) c.12437C= (p.Ala4146=) c.12422C= (p.Ala4141=) c.12416C= (p.Ala4139=) c.12413C= (p.Ala4138=) c.12386C= (p.Ala4129=) c.12368C= (p.Ala4123=) c.12314C= (p.Ala4105=) c.12233C= (p.Ala4078=) c.12176C= (p.Ala4059=) c.10262C= (p.Ala3421=) c.9440C= (p.Ala3147=) n.12280C= c.12482C= (p.Ala4161=) c.12410C= (p.Ala4137=) c.12272C= (p.Ala4091=) c.10358C= (p.Ala3453=) | |
16 | g.2090367G>T | CA394325099 | PKD1 | c.12362C>A (p.Ala4121Asp) c.12359C>A (p.Ala4120Asp) n.390C>A c.9317C>A (p.Ala3106Asp) c.12440C>A (p.Ala4147Asp) c.12437C>A (p.Ala4146Asp) c.12422C>A (p.Ala4141Asp) c.12416C>A (p.Ala4139Asp) c.12413C>A (p.Ala4138Asp) c.12386C>A (p.Ala4129Asp) c.12368C>A (p.Ala4123Asp) c.12314C>A (p.Ala4105Asp) c.12233C>A (p.Ala4078Asp) c.12176C>A (p.Ala4059Asp) c.10262C>A (p.Ala3421Asp) c.9440C>A (p.Ala3147Asp) n.12280C>A c.12482C>A (p.Ala4161Asp) c.12410C>A (p.Ala4137Asp) c.12272C>A (p.Ala4091Asp) c.10358C>A (p.Ala3453Asp) | dbSNP gnomAD v2 gnomAD v4 |
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) | 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.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) |