WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2091788_2091799del | CA2695221469 | PKD1,PKD1-AS1 | c.11524_11535del (p.Trp3842_Asn3845del) c.11521_11532del (p.Trp3841_Asn3844del) n.513_524del c.6086_6097del (n.6086_6097del) c.185_196del n.220_231del c.8479_8490del (p.Trp2827_Asn2830del) c.11602_11613del (p.Trp3868_Asn3871del) c.11599_11610del (p.Trp3867_Asn3870del) c.11584_11595del (p.Trp3862_Asn3865del) c.11578_11589del (p.Trp3860_Asn3863del) c.11575_11586del (p.Trp3859_Asn3862del) c.11548_11559del (p.Trp3850_Asn3853del) c.11530_11541del (p.Trp3844_Asn3847del) c.11476_11487del (p.Trp3826_Asn3829del) c.11395_11406del (p.Trp3799_Asn3802del) c.11338_11349del (p.Trp3780_Asn3783del) c.9424_9435del (p.Trp3142_Asn3145del) c.8602_8613del (p.Trp2868_Asn2871del) n.11617_11628del n.11364_11375del n.89+174_89+185del n.179+174_179+185del n.88+180_88+191del c.11644_11655del (p.Trp3882_Asn3885del) c.11572_11583del (p.Trp3858_Asn3861del) c.11434_11445del (p.Trp3812_Asn3815del) c.9520_9531del (p.Trp3174_Asn3177del) | |
| 16 | g.2091794A= | CA2202018251 | PKD1,PKD1-AS1 | c.11524T= (p.Trp3842=) c.11521T= (p.Trp3841=) n.513T= c.6086T= (n.6086T=) c.185T= n.220T= c.8479T= (p.Trp2827=) c.11602T= (p.Trp3868=) c.11599T= (p.Trp3867=) c.11584T= (p.Trp3862=) c.11578T= (p.Trp3860=) c.11575T= (p.Trp3859=) c.11548T= (p.Trp3850=) c.11530T= (p.Trp3844=) c.11476T= (p.Trp3826=) c.11395T= (p.Trp3799=) c.11338T= (p.Trp3780=) c.9424T= (p.Trp3142=) c.8602T= (p.Trp2868=) n.11617T= n.11364T= n.89+180A= n.179+180A= n.88+186A= c.11644T= (p.Trp3882=) c.11572T= (p.Trp3858=) c.11434T= (p.Trp3812=) c.9520T= (p.Trp3174=) | |
| 16 | g.2091794A>C | CA394332466 | PKD1,PKD1-AS1 | c.11524T>G (p.Trp3842Gly) c.11521T>G (p.Trp3841Gly) n.513T>G c.6086T>G (n.6086T>G) c.185T>G n.220T>G c.8479T>G (p.Trp2827Gly) c.11602T>G (p.Trp3868Gly) c.11599T>G (p.Trp3867Gly) c.11584T>G (p.Trp3862Gly) c.11578T>G (p.Trp3860Gly) c.11575T>G (p.Trp3859Gly) c.11548T>G (p.Trp3850Gly) c.11530T>G (p.Trp3844Gly) c.11476T>G (p.Trp3826Gly) c.11395T>G (p.Trp3799Gly) c.11338T>G (p.Trp3780Gly) c.9424T>G (p.Trp3142Gly) c.8602T>G (p.Trp2868Gly) n.11617T>G n.11364T>G n.89+180A>C n.179+180A>C n.88+186A>C c.11644T>G (p.Trp3882Gly) c.11572T>G (p.Trp3858Gly) c.11434T>G (p.Trp3812Gly) c.9520T>G (p.Trp3174Gly) | |
| 16 | g.2091794A>G | CA16043503 | PKD1,PKD1-AS1 | c.11524T>C (p.Trp3842Arg) c.11521T>C (p.Trp3841Arg) n.513T>C c.6086T>C (n.6086T>C) c.185T>C n.220T>C c.8479T>C (p.Trp2827Arg) c.11602T>C (p.Trp3868Arg) c.11599T>C (p.Trp3867Arg) c.11584T>C (p.Trp3862Arg) c.11578T>C (p.Trp3860Arg) c.11575T>C (p.Trp3859Arg) c.11548T>C (p.Trp3850Arg) c.11530T>C (p.Trp3844Arg) c.11476T>C (p.Trp3826Arg) c.11395T>C (p.Trp3799Arg) c.11338T>C (p.Trp3780Arg) c.9424T>C (p.Trp3142Arg) c.8602T>C (p.Trp2868Arg) n.11617T>C n.11364T>C n.89+180A>G n.179+180A>G n.88+186A>G c.11644T>C (p.Trp3882Arg) c.11572T>C (p.Trp3858Arg) c.11434T>C (p.Trp3812Arg) c.9520T>C (p.Trp3174Arg) | ClinVar dbSNP |
| 16 | g.2091794A>T | CA394332474 | PKD1,PKD1-AS1 | c.11524T>A (p.Trp3842Arg) c.11521T>A (p.Trp3841Arg) n.513T>A c.6086T>A (n.6086T>A) c.185T>A n.220T>A c.8479T>A (p.Trp2827Arg) c.11602T>A (p.Trp3868Arg) c.11599T>A (p.Trp3867Arg) c.11584T>A (p.Trp3862Arg) c.11578T>A (p.Trp3860Arg) c.11575T>A (p.Trp3859Arg) c.11548T>A (p.Trp3850Arg) c.11530T>A (p.Trp3844Arg) c.11476T>A (p.Trp3826Arg) c.11395T>A (p.Trp3799Arg) c.11338T>A (p.Trp3780Arg) c.9424T>A (p.Trp3142Arg) c.8602T>A (p.Trp2868Arg) n.11617T>A n.11364T>A n.89+180A>T n.179+180A>T n.88+186A>T c.11644T>A (p.Trp3882Arg) c.11572T>A (p.Trp3858Arg) c.11434T>A (p.Trp3812Arg) c.9520T>A (p.Trp3174Arg) | |
| 16 | g.2091795G>A | CA7829092 | PKD1,PKD1-AS1 | c.11523C>T (p.Asn3841=) c.11520C>T (p.Asn3840=) n.512C>T c.6085C>T (n.6085C>T) c.184C>T n.219C>T c.8478C>T (p.Asn2826=) c.11601C>T (p.Asn3867=) c.11598C>T (p.Asn3866=) c.11583C>T (p.Asn3861=) c.11577C>T (p.Asn3859=) c.11574C>T (p.Asn3858=) c.11547C>T (p.Asn3849=) c.11529C>T (p.Asn3843=) c.11475C>T (p.Asn3825=) c.11394C>T (p.Asn3798=) c.11337C>T (p.Asn3779=) c.9423C>T (p.Asn3141=) c.8601C>T (p.Asn2867=) n.11616C>T n.11363C>T n.89+181G>A n.179+181G>A n.88+187G>A c.11643C>T (p.Asn3881=) c.11571C>T (p.Asn3857=) c.11433C>T (p.Asn3811=) c.9519C>T (p.Asn3173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2091795G>C | CA394332486 | PKD1,PKD1-AS1 | c.11523C>G (p.Asn3841Lys) c.11520C>G (p.Asn3840Lys) n.512C>G c.6085C>G (n.6085C>G) c.184C>G n.219C>G c.8478C>G (p.Asn2826Lys) c.11601C>G (p.Asn3867Lys) c.11598C>G (p.Asn3866Lys) c.11583C>G (p.Asn3861Lys) c.11577C>G (p.Asn3859Lys) c.11574C>G (p.Asn3858Lys) c.11547C>G (p.Asn3849Lys) c.11529C>G (p.Asn3843Lys) c.11475C>G (p.Asn3825Lys) c.11394C>G (p.Asn3798Lys) c.11337C>G (p.Asn3779Lys) c.9423C>G (p.Asn3141Lys) c.8601C>G (p.Asn2867Lys) n.11616C>G n.11363C>G n.89+181G>C n.179+181G>C n.88+187G>C c.11643C>G (p.Asn3881Lys) c.11571C>G (p.Asn3857Lys) c.11433C>G (p.Asn3811Lys) c.9519C>G (p.Asn3173Lys) | dbSNP |
| 16 | g.2091795G= | CA2202018262 | PKD1,PKD1-AS1 | c.11523C= (p.Asn3841=) c.11520C= (p.Asn3840=) n.512C= c.6085C= (n.6085C=) c.184C= n.219C= c.8478C= (p.Asn2826=) c.11601C= (p.Asn3867=) c.11598C= (p.Asn3866=) c.11583C= (p.Asn3861=) c.11577C= (p.Asn3859=) c.11574C= (p.Asn3858=) c.11547C= (p.Asn3849=) c.11529C= (p.Asn3843=) c.11475C= (p.Asn3825=) c.11394C= (p.Asn3798=) c.11337C= (p.Asn3779=) c.9423C= (p.Asn3141=) c.8601C= (p.Asn2867=) n.11616C= n.11363C= n.89+181G= n.179+181G= n.88+187G= c.11643C= (p.Asn3881=) c.11571C= (p.Asn3857=) c.11433C= (p.Asn3811=) c.9519C= (p.Asn3173=) | |
| 16 | g.2091795G>T | CA394332477 | PKD1,PKD1-AS1 | c.11523C>A (p.Asn3841Lys) c.11520C>A (p.Asn3840Lys) n.512C>A c.6085C>A (n.6085C>A) c.184C>A n.219C>A c.8478C>A (p.Asn2826Lys) c.11601C>A (p.Asn3867Lys) c.11598C>A (p.Asn3866Lys) c.11583C>A (p.Asn3861Lys) c.11577C>A (p.Asn3859Lys) c.11574C>A (p.Asn3858Lys) c.11547C>A (p.Asn3849Lys) c.11529C>A (p.Asn3843Lys) c.11475C>A (p.Asn3825Lys) c.11394C>A (p.Asn3798Lys) c.11337C>A (p.Asn3779Lys) c.9423C>A (p.Asn3141Lys) c.8601C>A (p.Asn2867Lys) n.11616C>A n.11363C>A n.89+181G>T n.179+181G>T n.88+187G>T c.11643C>A (p.Asn3881Lys) c.11571C>A (p.Asn3857Lys) c.11433C>A (p.Asn3811Lys) c.9519C>A (p.Asn3173Lys) | |
| 16 | g.2091796T>A | CA394332487 | PKD1,PKD1-AS1 | c.11522A>T (p.Asn3841Ile) c.11519A>T (p.Asn3840Ile) n.511A>T c.6084A>T (n.6084A>T) c.183A>T n.218A>T c.8477A>T (p.Asn2826Ile) c.11600A>T (p.Asn3867Ile) c.11597A>T (p.Asn3866Ile) c.11582A>T (p.Asn3861Ile) c.11576A>T (p.Asn3859Ile) c.11573A>T (p.Asn3858Ile) c.11546A>T (p.Asn3849Ile) c.11528A>T (p.Asn3843Ile) c.11474A>T (p.Asn3825Ile) c.11393A>T (p.Asn3798Ile) c.11336A>T (p.Asn3779Ile) c.9422A>T (p.Asn3141Ile) c.8600A>T (p.Asn2867Ile) n.11615A>T n.11362A>T n.89+182T>A n.179+182T>A n.88+188T>A c.11642A>T (p.Asn3881Ile) c.11570A>T (p.Asn3857Ile) c.11432A>T (p.Asn3811Ile) c.9518A>T (p.Asn3173Ile) | |
| 16 | g.2091796T>C | CA7829093 | PKD1,PKD1-AS1 | c.11522A>G (p.Asn3841Ser) c.11519A>G (p.Asn3840Ser) n.511A>G c.6084A>G (n.6084A>G) c.183A>G n.218A>G c.8477A>G (p.Asn2826Ser) c.11600A>G (p.Asn3867Ser) c.11597A>G (p.Asn3866Ser) c.11582A>G (p.Asn3861Ser) c.11576A>G (p.Asn3859Ser) c.11573A>G (p.Asn3858Ser) c.11546A>G (p.Asn3849Ser) c.11528A>G (p.Asn3843Ser) c.11474A>G (p.Asn3825Ser) c.11393A>G (p.Asn3798Ser) c.11336A>G (p.Asn3779Ser) c.9422A>G (p.Asn3141Ser) c.8600A>G (p.Asn2867Ser) n.11615A>G n.11362A>G n.89+182T>C n.179+182T>C n.88+188T>C c.11642A>G (p.Asn3881Ser) c.11570A>G (p.Asn3857Ser) c.11432A>G (p.Asn3811Ser) c.9518A>G (p.Asn3173Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2091796T>G | CA394332488 | PKD1,PKD1-AS1 | c.11522A>C (p.Asn3841Thr) c.11519A>C (p.Asn3840Thr) n.511A>C c.6084A>C (n.6084A>C) c.183A>C n.218A>C c.8477A>C (p.Asn2826Thr) c.11600A>C (p.Asn3867Thr) c.11597A>C (p.Asn3866Thr) c.11582A>C (p.Asn3861Thr) c.11576A>C (p.Asn3859Thr) c.11573A>C (p.Asn3858Thr) c.11546A>C (p.Asn3849Thr) c.11528A>C (p.Asn3843Thr) c.11474A>C (p.Asn3825Thr) c.11393A>C (p.Asn3798Thr) c.11336A>C (p.Asn3779Thr) c.9422A>C (p.Asn3141Thr) c.8600A>C (p.Asn2867Thr) n.11615A>C n.11362A>C n.89+182T>G n.179+182T>G n.88+188T>G c.11642A>C (p.Asn3881Thr) c.11570A>C (p.Asn3857Thr) c.11432A>C (p.Asn3811Thr) c.9518A>C (p.Asn3173Thr) | dbSNP gnomAD v4 |
| 16 | g.2091796T= | CA2202018265 | PKD1,PKD1-AS1 | c.11522A= (p.Asn3841=) c.11519A= (p.Asn3840=) n.511A= c.6084A= (n.6084A=) c.183A= n.218A= c.8477A= (p.Asn2826=) c.11600A= (p.Asn3867=) c.11597A= (p.Asn3866=) c.11582A= (p.Asn3861=) c.11576A= (p.Asn3859=) c.11573A= (p.Asn3858=) c.11546A= (p.Asn3849=) c.11528A= (p.Asn3843=) c.11474A= (p.Asn3825=) c.11393A= (p.Asn3798=) c.11336A= (p.Asn3779=) c.9422A= (p.Asn3141=) c.8600A= (p.Asn2867=) n.11615A= n.11362A= n.89+182T= n.179+182T= n.88+188T= c.11642A= (p.Asn3881=) c.11570A= (p.Asn3857=) c.11432A= (p.Asn3811=) c.9518A= (p.Asn3173=) | |
| 16 | g.2091797T>A | CA394332494 | PKD1,PKD1-AS1 | c.11521A>T (p.Asn3841Tyr) c.11518A>T (p.Asn3840Tyr) n.510A>T c.6083A>T (n.6083A>T) c.182A>T n.217A>T c.8476A>T (p.Asn2826Tyr) c.11599A>T (p.Asn3867Tyr) c.11596A>T (p.Asn3866Tyr) c.11581A>T (p.Asn3861Tyr) c.11575A>T (p.Asn3859Tyr) c.11572A>T (p.Asn3858Tyr) c.11545A>T (p.Asn3849Tyr) c.11527A>T (p.Asn3843Tyr) c.11473A>T (p.Asn3825Tyr) c.11392A>T (p.Asn3798Tyr) c.11335A>T (p.Asn3779Tyr) c.9421A>T (p.Asn3141Tyr) c.8599A>T (p.Asn2867Tyr) n.11614A>T n.11361A>T n.89+183T>A n.179+183T>A n.88+189T>A c.11641A>T (p.Asn3881Tyr) c.11569A>T (p.Asn3857Tyr) c.11431A>T (p.Asn3811Tyr) c.9517A>T (p.Asn3173Tyr) | |
| 16 | g.2091797T>C | CA394332499 | PKD1,PKD1-AS1 | c.11521A>G (p.Asn3841Asp) c.11518A>G (p.Asn3840Asp) n.510A>G c.6083A>G (n.6083A>G) c.182A>G n.217A>G c.8476A>G (p.Asn2826Asp) c.11599A>G (p.Asn3867Asp) c.11596A>G (p.Asn3866Asp) c.11581A>G (p.Asn3861Asp) c.11575A>G (p.Asn3859Asp) c.11572A>G (p.Asn3858Asp) c.11545A>G (p.Asn3849Asp) c.11527A>G (p.Asn3843Asp) c.11473A>G (p.Asn3825Asp) c.11392A>G (p.Asn3798Asp) c.11335A>G (p.Asn3779Asp) c.9421A>G (p.Asn3141Asp) c.8599A>G (p.Asn2867Asp) n.11614A>G n.11361A>G n.89+183T>C n.179+183T>C n.88+189T>C c.11641A>G (p.Asn3881Asp) c.11569A>G (p.Asn3857Asp) c.11431A>G (p.Asn3811Asp) c.9517A>G (p.Asn3173Asp) | |
| 16 | g.2091797T>G | CA394332502 | PKD1,PKD1-AS1 | c.11521A>C (p.Asn3841His) c.11518A>C (p.Asn3840His) n.510A>C c.6083A>C (n.6083A>C) c.182A>C n.217A>C c.8476A>C (p.Asn2826His) c.11599A>C (p.Asn3867His) c.11596A>C (p.Asn3866His) c.11581A>C (p.Asn3861His) c.11575A>C (p.Asn3859His) c.11572A>C (p.Asn3858His) c.11545A>C (p.Asn3849His) c.11527A>C (p.Asn3843His) c.11473A>C (p.Asn3825His) c.11392A>C (p.Asn3798His) c.11335A>C (p.Asn3779His) c.9421A>C (p.Asn3141His) c.8599A>C (p.Asn2867His) n.11614A>C n.11361A>C n.89+183T>G n.179+183T>G n.88+189T>G c.11641A>C (p.Asn3881His) c.11569A>C (p.Asn3857His) c.11431A>C (p.Asn3811His) c.9517A>C (p.Asn3173His) | gnomAD v4 |
| 16 | g.2091798G>A | CA493044793 | PKD1,PKD1-AS1 | c.11520C>T (p.His3840=) c.11517C>T (p.His3839=) n.509C>T c.6082C>T (n.6082C>T) c.181C>T n.216C>T c.8475C>T (p.His2825=) c.11598C>T (p.His3866=) c.11595C>T (p.His3865=) c.11580C>T (p.His3860=) c.11574C>T (p.His3858=) c.11571C>T (p.His3857=) c.11544C>T (p.His3848=) c.11526C>T (p.His3842=) c.11472C>T (p.His3824=) c.11391C>T (p.His3797=) c.11334C>T (p.His3778=) c.9420C>T (p.His3140=) c.8598C>T (p.His2866=) n.11613C>T n.11360C>T n.89+184G>A n.179+184G>A n.88+190G>A c.11640C>T (p.His3880=) c.11568C>T (p.His3856=) c.11430C>T (p.His3810=) c.9516C>T (p.His3172=) | gnomAD v4 |
| 16 | g.2091798G>C | CA394332510 | PKD1,PKD1-AS1 | c.11520C>G (p.His3840Gln) c.11517C>G (p.His3839Gln) n.509C>G c.6082C>G (n.6082C>G) c.181C>G n.216C>G c.8475C>G (p.His2825Gln) c.11598C>G (p.His3866Gln) c.11595C>G (p.His3865Gln) c.11580C>G (p.His3860Gln) c.11574C>G (p.His3858Gln) c.11571C>G (p.His3857Gln) c.11544C>G (p.His3848Gln) c.11526C>G (p.His3842Gln) c.11472C>G (p.His3824Gln) c.11391C>G (p.His3797Gln) c.11334C>G (p.His3778Gln) c.9420C>G (p.His3140Gln) c.8598C>G (p.His2866Gln) n.11613C>G n.11360C>G n.89+184G>C n.179+184G>C n.88+190G>C c.11640C>G (p.His3880Gln) c.11568C>G (p.His3856Gln) c.11430C>G (p.His3810Gln) c.9516C>G (p.His3172Gln) | gnomAD v4 |
| 16 | g.2091798G= | CA2202018267 | PKD1,PKD1-AS1 | c.11520C= (p.His3840=) c.11517C= (p.His3839=) n.509C= c.6082C= (n.6082C=) c.181C= n.216C= c.8475C= (p.His2825=) c.11598C= (p.His3866=) c.11595C= (p.His3865=) c.11580C= (p.His3860=) c.11574C= (p.His3858=) c.11571C= (p.His3857=) c.11544C= (p.His3848=) c.11526C= (p.His3842=) c.11472C= (p.His3824=) c.11391C= (p.His3797=) c.11334C= (p.His3778=) c.9420C= (p.His3140=) c.8598C= (p.His2866=) n.11613C= n.11360C= n.89+184G= n.179+184G= n.88+190G= c.11640C= (p.His3880=) c.11568C= (p.His3856=) c.11430C= (p.His3810=) c.9516C= (p.His3172=) | |
| 16 | g.2091798G>T | CA394332518 | PKD1,PKD1-AS1 | c.11520C>A (p.His3840Gln) c.11517C>A (p.His3839Gln) n.509C>A c.6082C>A (n.6082C>A) c.181C>A n.216C>A c.8475C>A (p.His2825Gln) c.11598C>A (p.His3866Gln) c.11595C>A (p.His3865Gln) c.11580C>A (p.His3860Gln) c.11574C>A (p.His3858Gln) c.11571C>A (p.His3857Gln) c.11544C>A (p.His3848Gln) c.11526C>A (p.His3842Gln) c.11472C>A (p.His3824Gln) c.11391C>A (p.His3797Gln) c.11334C>A (p.His3778Gln) c.9420C>A (p.His3140Gln) c.8598C>A (p.His2866Gln) n.11613C>A n.11360C>A n.89+184G>T n.179+184G>T n.88+190G>T c.11640C>A (p.His3880Gln) c.11568C>A (p.His3856Gln) c.11430C>A (p.His3810Gln) c.9516C>A (p.His3172Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2091799T>A | CA394332524 | PKD1,PKD1-AS1 | c.11519A>T (p.His3840Leu) c.11516A>T (p.His3839Leu) n.508A>T c.6081A>T (n.6081A>T) c.180A>T n.215A>T c.8474A>T (p.His2825Leu) c.11597A>T (p.His3866Leu) c.11594A>T (p.His3865Leu) c.11579A>T (p.His3860Leu) c.11573A>T (p.His3858Leu) c.11570A>T (p.His3857Leu) c.11543A>T (p.His3848Leu) c.11525A>T (p.His3842Leu) c.11471A>T (p.His3824Leu) c.11390A>T (p.His3797Leu) c.11333A>T (p.His3778Leu) c.9419A>T (p.His3140Leu) c.8597A>T (p.His2866Leu) n.11612A>T n.11359A>T n.89+185T>A n.179+185T>A n.88+191T>A c.11639A>T (p.His3880Leu) c.11567A>T (p.His3856Leu) c.11429A>T (p.His3810Leu) c.9515A>T (p.His3172Leu) | |
| 16 | g.2091799T>C | CA394332534 | PKD1,PKD1-AS1 | c.11519A>G (p.His3840Arg) c.11516A>G (p.His3839Arg) n.508A>G c.6081A>G (n.6081A>G) c.180A>G n.215A>G c.8474A>G (p.His2825Arg) c.11597A>G (p.His3866Arg) c.11594A>G (p.His3865Arg) c.11579A>G (p.His3860Arg) c.11573A>G (p.His3858Arg) c.11570A>G (p.His3857Arg) c.11543A>G (p.His3848Arg) c.11525A>G (p.His3842Arg) c.11471A>G (p.His3824Arg) c.11390A>G (p.His3797Arg) c.11333A>G (p.His3778Arg) c.9419A>G (p.His3140Arg) c.8597A>G (p.His2866Arg) n.11612A>G n.11359A>G n.89+185T>C n.179+185T>C n.88+191T>C c.11639A>G (p.His3880Arg) c.11567A>G (p.His3856Arg) c.11429A>G (p.His3810Arg) c.9515A>G (p.His3172Arg) | |
| 16 | g.2091799T>G | CA394332539 | PKD1,PKD1-AS1 | c.11519A>C (p.His3840Pro) c.11516A>C (p.His3839Pro) n.508A>C c.6081A>C (n.6081A>C) c.180A>C n.215A>C c.8474A>C (p.His2825Pro) c.11597A>C (p.His3866Pro) c.11594A>C (p.His3865Pro) c.11579A>C (p.His3860Pro) c.11573A>C (p.His3858Pro) c.11570A>C (p.His3857Pro) c.11543A>C (p.His3848Pro) c.11525A>C (p.His3842Pro) c.11471A>C (p.His3824Pro) c.11390A>C (p.His3797Pro) c.11333A>C (p.His3778Pro) c.9419A>C (p.His3140Pro) c.8597A>C (p.His2866Pro) n.11612A>C n.11359A>C n.89+185T>G n.179+185T>G n.88+191T>G c.11639A>C (p.His3880Pro) c.11567A>C (p.His3856Pro) c.11429A>C (p.His3810Pro) c.9515A>C (p.His3172Pro) | ClinVar |
| 16 | g.2091800G>A | CA394332544 | PKD1,PKD1-AS1 | c.11518C>T (p.His3840Tyr) c.11515C>T (p.His3839Tyr) n.507C>T c.6080C>T (n.6080C>T) c.179C>T n.214C>T c.8473C>T (p.His2825Tyr) c.11596C>T (p.His3866Tyr) c.11593C>T (p.His3865Tyr) c.11578C>T (p.His3860Tyr) c.11572C>T (p.His3858Tyr) c.11569C>T (p.His3857Tyr) c.11542C>T (p.His3848Tyr) c.11524C>T (p.His3842Tyr) c.11470C>T (p.His3824Tyr) c.11389C>T (p.His3797Tyr) c.11332C>T (p.His3778Tyr) c.9418C>T (p.His3140Tyr) c.8596C>T (p.His2866Tyr) n.11611C>T n.11358C>T n.89+186G>A n.179+186G>A n.88+192G>A c.11638C>T (p.His3880Tyr) c.11566C>T (p.His3856Tyr) c.11428C>T (p.His3810Tyr) c.9514C>T (p.His3172Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2091800G>C | CA394332547 | PKD1,PKD1-AS1 | c.11518C>G (p.His3840Asp) c.11515C>G (p.His3839Asp) n.507C>G c.6080C>G (n.6080C>G) c.179C>G n.214C>G c.8473C>G (p.His2825Asp) c.11596C>G (p.His3866Asp) c.11593C>G (p.His3865Asp) c.11578C>G (p.His3860Asp) c.11572C>G (p.His3858Asp) c.11569C>G (p.His3857Asp) c.11542C>G (p.His3848Asp) c.11524C>G (p.His3842Asp) c.11470C>G (p.His3824Asp) c.11389C>G (p.His3797Asp) c.11332C>G (p.His3778Asp) c.9418C>G (p.His3140Asp) c.8596C>G (p.His2866Asp) n.11611C>G n.11358C>G n.89+186G>C n.179+186G>C n.88+192G>C c.11638C>G (p.His3880Asp) c.11566C>G (p.His3856Asp) c.11428C>G (p.His3810Asp) c.9514C>G (p.His3172Asp) | |
| 16 | g.2091800G= | CA2202018271 | PKD1,PKD1-AS1 | c.11518C= (p.His3840=) c.11515C= (p.His3839=) n.507C= c.6080C= (n.6080C=) c.179C= n.214C= c.8473C= (p.His2825=) c.11596C= (p.His3866=) c.11593C= (p.His3865=) c.11578C= (p.His3860=) c.11572C= (p.His3858=) c.11569C= (p.His3857=) c.11542C= (p.His3848=) c.11524C= (p.His3842=) c.11470C= (p.His3824=) c.11389C= (p.His3797=) c.11332C= (p.His3778=) c.9418C= (p.His3140=) c.8596C= (p.His2866=) n.11611C= n.11358C= n.89+186G= n.179+186G= n.88+192G= c.11638C= (p.His3880=) c.11566C= (p.His3856=) c.11428C= (p.His3810=) c.9514C= (p.His3172=) | |
| 16 | g.2091800G>T | CA394332550 | PKD1,PKD1-AS1 | c.11518C>A (p.His3840Asn) c.11515C>A (p.His3839Asn) n.507C>A c.6080C>A (n.6080C>A) c.179C>A n.214C>A c.8473C>A (p.His2825Asn) c.11596C>A (p.His3866Asn) c.11593C>A (p.His3865Asn) c.11578C>A (p.His3860Asn) c.11572C>A (p.His3858Asn) c.11569C>A (p.His3857Asn) c.11542C>A (p.His3848Asn) c.11524C>A (p.His3842Asn) c.11470C>A (p.His3824Asn) c.11389C>A (p.His3797Asn) c.11332C>A (p.His3778Asn) c.9418C>A (p.His3140Asn) c.8596C>A (p.His2866Asn) n.11611C>A n.11358C>A n.89+186G>T n.179+186G>T n.88+192G>T c.11638C>A (p.His3880Asn) c.11566C>A (p.His3856Asn) c.11428C>A (p.His3810Asn) c.9514C>A (p.His3172Asn) | gnomAD v4 |
| 16 | g.2091801C>A | CA493044794 | PKD1,PKD1-AS1 | c.11517G>T (p.Leu3839=) c.11514G>T (p.Leu3838=) n.506G>T c.6079G>T (n.6079G>T) c.178G>T n.213G>T c.8472G>T (p.Leu2824=) c.11595G>T (p.Leu3865=) c.11592G>T (p.Leu3864=) c.11577G>T (p.Leu3859=) c.11571G>T (p.Leu3857=) c.11568G>T (p.Leu3856=) c.11541G>T (p.Leu3847=) c.11523G>T (p.Leu3841=) c.11469G>T (p.Leu3823=) c.11388G>T (p.Leu3796=) c.11331G>T (p.Leu3777=) c.9417G>T (p.Leu3139=) c.8595G>T (p.Leu2865=) n.11610G>T n.11357G>T n.89+187C>A n.179+187C>A n.88+193C>A c.11637G>T (p.Leu3879=) c.11565G>T (p.Leu3855=) c.11427G>T (p.Leu3809=) c.9513G>T (p.Leu3171=) | |
| 16 | g.2091801C= | CA2202018277 | PKD1,PKD1-AS1 | c.11517G= (p.Leu3839=) c.11514G= (p.Leu3838=) n.506G= c.6079G= (n.6079G=) c.178G= n.213G= c.8472G= (p.Leu2824=) c.11595G= (p.Leu3865=) c.11592G= (p.Leu3864=) c.11577G= (p.Leu3859=) c.11571G= (p.Leu3857=) c.11568G= (p.Leu3856=) c.11541G= (p.Leu3847=) c.11523G= (p.Leu3841=) c.11469G= (p.Leu3823=) c.11388G= (p.Leu3796=) c.11331G= (p.Leu3777=) c.9417G= (p.Leu3139=) c.8595G= (p.Leu2865=) n.11610G= n.11357G= n.89+187C= n.179+187C= n.88+193C= c.11637G= (p.Leu3879=) c.11565G= (p.Leu3855=) c.11427G= (p.Leu3809=) c.9513G= (p.Leu3171=) | |
| 16 | g.2091801C>G | CA493044795 | PKD1,PKD1-AS1 | c.11517G>C (p.Leu3839=) c.11514G>C (p.Leu3838=) n.506G>C c.6079G>C (n.6079G>C) c.178G>C n.213G>C c.8472G>C (p.Leu2824=) c.11595G>C (p.Leu3865=) c.11592G>C (p.Leu3864=) c.11577G>C (p.Leu3859=) c.11571G>C (p.Leu3857=) c.11568G>C (p.Leu3856=) c.11541G>C (p.Leu3847=) c.11523G>C (p.Leu3841=) c.11469G>C (p.Leu3823=) c.11388G>C (p.Leu3796=) c.11331G>C (p.Leu3777=) c.9417G>C (p.Leu3139=) c.8595G>C (p.Leu2865=) n.11610G>C n.11357G>C n.89+187C>G n.179+187C>G n.88+193C>G c.11637G>C (p.Leu3879=) c.11565G>C (p.Leu3855=) c.11427G>C (p.Leu3809=) c.9513G>C (p.Leu3171=) | dbSNP |
| 16 | g.2091801C>T | CA276766522 | PKD1,PKD1-AS1 | c.11517G>A (p.Leu3839=) c.11514G>A (p.Leu3838=) n.506G>A c.6079G>A (n.6079G>A) c.178G>A n.213G>A c.8472G>A (p.Leu2824=) c.11595G>A (p.Leu3865=) c.11592G>A (p.Leu3864=) c.11577G>A (p.Leu3859=) c.11571G>A (p.Leu3857=) c.11568G>A (p.Leu3856=) c.11541G>A (p.Leu3847=) c.11523G>A (p.Leu3841=) c.11469G>A (p.Leu3823=) c.11388G>A (p.Leu3796=) c.11331G>A (p.Leu3777=) c.9417G>A (p.Leu3139=) c.8595G>A (p.Leu2865=) n.11610G>A n.11357G>A n.89+187C>T n.179+187C>T n.88+193C>T c.11637G>A (p.Leu3879=) c.11565G>A (p.Leu3855=) c.11427G>A (p.Leu3809=) c.9513G>A (p.Leu3171=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2091802A>C | CA394332569 | PKD1,PKD1-AS1 | c.11516T>G (p.Leu3839Arg) c.11513T>G (p.Leu3838Arg) n.505T>G c.6078T>G (n.6078T>G) c.177T>G n.212T>G c.8471T>G (p.Leu2824Arg) c.11594T>G (p.Leu3865Arg) c.11591T>G (p.Leu3864Arg) c.11576T>G (p.Leu3859Arg) c.11570T>G (p.Leu3857Arg) c.11567T>G (p.Leu3856Arg) c.11540T>G (p.Leu3847Arg) c.11522T>G (p.Leu3841Arg) c.11468T>G (p.Leu3823Arg) c.11387T>G (p.Leu3796Arg) c.11330T>G (p.Leu3777Arg) c.9416T>G (p.Leu3139Arg) c.8594T>G (p.Leu2865Arg) n.11609T>G n.11356T>G n.89+188A>C n.179+188A>C n.88+194A>C c.11636T>G (p.Leu3879Arg) c.11564T>G (p.Leu3855Arg) c.11426T>G (p.Leu3809Arg) c.9512T>G (p.Leu3171Arg) | |
| 16 | g.2091802A>G | CA394332563 | PKD1,PKD1-AS1 | c.11516T>C (p.Leu3839Pro) c.11513T>C (p.Leu3838Pro) n.505T>C c.6078T>C (n.6078T>C) c.177T>C n.212T>C c.8471T>C (p.Leu2824Pro) c.11594T>C (p.Leu3865Pro) c.11591T>C (p.Leu3864Pro) c.11576T>C (p.Leu3859Pro) c.11570T>C (p.Leu3857Pro) c.11567T>C (p.Leu3856Pro) c.11540T>C (p.Leu3847Pro) c.11522T>C (p.Leu3841Pro) c.11468T>C (p.Leu3823Pro) c.11387T>C (p.Leu3796Pro) c.11330T>C (p.Leu3777Pro) c.9416T>C (p.Leu3139Pro) c.8594T>C (p.Leu2865Pro) n.11609T>C n.11356T>C n.89+188A>G n.179+188A>G n.88+194A>G c.11636T>C (p.Leu3879Pro) c.11564T>C (p.Leu3855Pro) c.11426T>C (p.Leu3809Pro) c.9512T>C (p.Leu3171Pro) | gnomAD v4 |
| 16 | g.2091802A>T | CA394332564 | PKD1,PKD1-AS1 | c.11516T>A (p.Leu3839Gln) c.11513T>A (p.Leu3838Gln) n.505T>A c.6078T>A (n.6078T>A) c.177T>A n.212T>A c.8471T>A (p.Leu2824Gln) c.11594T>A (p.Leu3865Gln) c.11591T>A (p.Leu3864Gln) c.11576T>A (p.Leu3859Gln) c.11570T>A (p.Leu3857Gln) c.11567T>A (p.Leu3856Gln) c.11540T>A (p.Leu3847Gln) c.11522T>A (p.Leu3841Gln) c.11468T>A (p.Leu3823Gln) c.11387T>A (p.Leu3796Gln) c.11330T>A (p.Leu3777Gln) c.9416T>A (p.Leu3139Gln) c.8594T>A (p.Leu2865Gln) n.11609T>A n.11356T>A n.89+188A>T n.179+188A>T n.88+194A>T c.11636T>A (p.Leu3879Gln) c.11564T>A (p.Leu3855Gln) c.11426T>A (p.Leu3809Gln) c.9512T>A (p.Leu3171Gln) | |
| 16 | g.2091803G>A | CA493044796 | PKD1,PKD1-AS1 | c.11515C>T (p.Leu3839=) c.11512C>T (p.Leu3838=) n.504C>T c.6077C>T (n.6077C>T) c.176C>T n.211C>T c.8470C>T (p.Leu2824=) c.11593C>T (p.Leu3865=) c.11590C>T (p.Leu3864=) c.11575C>T (p.Leu3859=) c.11569C>T (p.Leu3857=) c.11566C>T (p.Leu3856=) c.11539C>T (p.Leu3847=) c.11521C>T (p.Leu3841=) c.11467C>T (p.Leu3823=) c.11386C>T (p.Leu3796=) c.11329C>T (p.Leu3777=) c.9415C>T (p.Leu3139=) c.8593C>T (p.Leu2865=) n.11608C>T n.11355C>T n.89+189G>A n.179+189G>A n.88+195G>A c.11635C>T (p.Leu3879=) c.11563C>T (p.Leu3855=) c.11425C>T (p.Leu3809=) c.9511C>T (p.Leu3171=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2091803G>C | CA394332572 | PKD1,PKD1-AS1 | c.11515C>G (p.Leu3839Val) c.11512C>G (p.Leu3838Val) n.504C>G c.6077C>G (n.6077C>G) c.176C>G n.211C>G c.8470C>G (p.Leu2824Val) c.11593C>G (p.Leu3865Val) c.11590C>G (p.Leu3864Val) c.11575C>G (p.Leu3859Val) c.11569C>G (p.Leu3857Val) c.11566C>G (p.Leu3856Val) c.11539C>G (p.Leu3847Val) c.11521C>G (p.Leu3841Val) c.11467C>G (p.Leu3823Val) c.11386C>G (p.Leu3796Val) c.11329C>G (p.Leu3777Val) c.9415C>G (p.Leu3139Val) c.8593C>G (p.Leu2865Val) n.11608C>G n.11355C>G n.89+189G>C n.179+189G>C n.88+195G>C c.11635C>G (p.Leu3879Val) c.11563C>G (p.Leu3855Val) c.11425C>G (p.Leu3809Val) c.9511C>G (p.Leu3171Val) | |
| 16 | g.2091803G= | CA2202018279 | PKD1,PKD1-AS1 | c.11515C= (p.Leu3839=) c.11512C= (p.Leu3838=) n.504C= c.6077C= (n.6077C=) c.176C= n.211C= c.8470C= (p.Leu2824=) c.11593C= (p.Leu3865=) c.11590C= (p.Leu3864=) c.11575C= (p.Leu3859=) c.11569C= (p.Leu3857=) c.11566C= (p.Leu3856=) c.11539C= (p.Leu3847=) c.11521C= (p.Leu3841=) c.11467C= (p.Leu3823=) c.11386C= (p.Leu3796=) c.11329C= (p.Leu3777=) c.9415C= (p.Leu3139=) c.8593C= (p.Leu2865=) n.11608C= n.11355C= n.89+189G= n.179+189G= n.88+195G= c.11635C= (p.Leu3879=) c.11563C= (p.Leu3855=) c.11425C= (p.Leu3809=) c.9511C= (p.Leu3171=) | |
| 16 | g.2091803G>T | CA394332574 | PKD1,PKD1-AS1 | c.11515C>A (p.Leu3839Met) c.11512C>A (p.Leu3838Met) n.504C>A c.6077C>A (n.6077C>A) c.176C>A n.211C>A c.8470C>A (p.Leu2824Met) c.11593C>A (p.Leu3865Met) c.11590C>A (p.Leu3864Met) c.11575C>A (p.Leu3859Met) c.11569C>A (p.Leu3857Met) c.11566C>A (p.Leu3856Met) c.11539C>A (p.Leu3847Met) c.11521C>A (p.Leu3841Met) c.11467C>A (p.Leu3823Met) c.11386C>A (p.Leu3796Met) c.11329C>A (p.Leu3777Met) c.9415C>A (p.Leu3139Met) c.8593C>A (p.Leu2865Met) n.11608C>A n.11355C>A n.89+189G>T n.179+189G>T n.88+195G>T c.11635C>A (p.Leu3879Met) c.11563C>A (p.Leu3855Met) c.11425C>A (p.Leu3809Met) c.9511C>A (p.Leu3171Met) | |
| 16 | g.2091804C>A | CA394332575 | PKD1,PKD1-AS1 | c.11514G>T (p.Gln3838His) c.11511G>T (p.Gln3837His) n.503G>T c.6076G>T (n.6076G>T) c.175G>T n.210G>T c.8469G>T (p.Gln2823His) c.11592G>T (p.Gln3864His) c.11589G>T (p.Gln3863His) c.11574G>T (p.Gln3858His) c.11568G>T (p.Gln3856His) c.11565G>T (p.Gln3855His) c.11538G>T (p.Gln3846His) c.11520G>T (p.Gln3840His) c.11466G>T (p.Gln3822His) c.11385G>T (p.Gln3795His) c.11328G>T (p.Gln3776His) c.9414G>T (p.Gln3138His) c.8592G>T (p.Gln2864His) n.11607G>T n.11354G>T n.89+190C>A n.179+190C>A n.88+196C>A c.11634G>T (p.Gln3878His) c.11562G>T (p.Gln3854His) c.11424G>T (p.Gln3808His) c.9510G>T (p.Gln3170His) | gnomAD v4 |
| 16 | g.2091804C= | CA2202018282 | PKD1,PKD1-AS1 | c.11514G= (p.Gln3838=) c.11511G= (p.Gln3837=) n.503G= c.6076G= (n.6076G=) c.175G= n.210G= c.8469G= (p.Gln2823=) c.11592G= (p.Gln3864=) c.11589G= (p.Gln3863=) c.11574G= (p.Gln3858=) c.11568G= (p.Gln3856=) c.11565G= (p.Gln3855=) c.11538G= (p.Gln3846=) c.11520G= (p.Gln3840=) c.11466G= (p.Gln3822=) c.11385G= (p.Gln3795=) c.11328G= (p.Gln3776=) c.9414G= (p.Gln3138=) c.8592G= (p.Gln2864=) n.11607G= n.11354G= n.89+190C= n.179+190C= n.88+196C= c.11634G= (p.Gln3878=) c.11562G= (p.Gln3854=) c.11424G= (p.Gln3808=) c.9510G= (p.Gln3170=) | |
| 16 | g.2091804C>G | CA394332576 | PKD1,PKD1-AS1 | c.11514G>C (p.Gln3838His) c.11511G>C (p.Gln3837His) n.503G>C c.6076G>C (n.6076G>C) c.175G>C n.210G>C c.8469G>C (p.Gln2823His) c.11592G>C (p.Gln3864His) c.11589G>C (p.Gln3863His) c.11574G>C (p.Gln3858His) c.11568G>C (p.Gln3856His) c.11565G>C (p.Gln3855His) c.11538G>C (p.Gln3846His) c.11520G>C (p.Gln3840His) c.11466G>C (p.Gln3822His) c.11385G>C (p.Gln3795His) c.11328G>C (p.Gln3776His) c.9414G>C (p.Gln3138His) c.8592G>C (p.Gln2864His) n.11607G>C n.11354G>C n.89+190C>G n.179+190C>G n.88+196C>G c.11634G>C (p.Gln3878His) c.11562G>C (p.Gln3854His) c.11424G>C (p.Gln3808His) c.9510G>C (p.Gln3170His) | |
| 16 | g.2091804C>T | CA493044797 | PKD1,PKD1-AS1 | c.11514G>A (p.Gln3838=) c.11511G>A (p.Gln3837=) n.503G>A c.6076G>A (n.6076G>A) c.175G>A n.210G>A c.8469G>A (p.Gln2823=) c.11592G>A (p.Gln3864=) c.11589G>A (p.Gln3863=) c.11574G>A (p.Gln3858=) c.11568G>A (p.Gln3856=) c.11565G>A (p.Gln3855=) c.11538G>A (p.Gln3846=) c.11520G>A (p.Gln3840=) c.11466G>A (p.Gln3822=) c.11385G>A (p.Gln3795=) c.11328G>A (p.Gln3776=) c.9414G>A (p.Gln3138=) c.8592G>A (p.Gln2864=) n.11607G>A n.11354G>A n.89+190C>T n.179+190C>T n.88+196C>T c.11634G>A (p.Gln3878=) c.11562G>A (p.Gln3854=) c.11424G>A (p.Gln3808=) c.9510G>A (p.Gln3170=) | dbSNP gnomAD v2 |
| 16 | g.2091805T>A | CA394332578 | PKD1,PKD1-AS1 | c.11513A>T (p.Gln3838Leu) c.11510A>T (p.Gln3837Leu) n.502A>T c.6075A>T (n.6075A>T) c.174A>T n.209A>T c.8468A>T (p.Gln2823Leu) c.11591A>T (p.Gln3864Leu) c.11588A>T (p.Gln3863Leu) c.11573A>T (p.Gln3858Leu) c.11567A>T (p.Gln3856Leu) c.11564A>T (p.Gln3855Leu) c.11537A>T (p.Gln3846Leu) c.11519A>T (p.Gln3840Leu) c.11465A>T (p.Gln3822Leu) c.11384A>T (p.Gln3795Leu) c.11327A>T (p.Gln3776Leu) c.9413A>T (p.Gln3138Leu) c.8591A>T (p.Gln2864Leu) n.11606A>T n.11353A>T n.89+191T>A n.179+191T>A n.88+197T>A c.11633A>T (p.Gln3878Leu) c.11561A>T (p.Gln3854Leu) c.11423A>T (p.Gln3808Leu) c.9509A>T (p.Gln3170Leu) | |
| 16 | g.2091805T>C | CA7829094 | PKD1,PKD1-AS1 | c.11513A>G (p.Gln3838Arg) c.11510A>G (p.Gln3837Arg) n.502A>G c.6075A>G (n.6075A>G) c.174A>G n.209A>G c.8468A>G (p.Gln2823Arg) c.11591A>G (p.Gln3864Arg) c.11588A>G (p.Gln3863Arg) c.11573A>G (p.Gln3858Arg) c.11567A>G (p.Gln3856Arg) c.11564A>G (p.Gln3855Arg) c.11537A>G (p.Gln3846Arg) c.11519A>G (p.Gln3840Arg) c.11465A>G (p.Gln3822Arg) c.11384A>G (p.Gln3795Arg) c.11327A>G (p.Gln3776Arg) c.9413A>G (p.Gln3138Arg) c.8591A>G (p.Gln2864Arg) n.11606A>G n.11353A>G n.89+191T>C n.179+191T>C n.88+197T>C c.11633A>G (p.Gln3878Arg) c.11561A>G (p.Gln3854Arg) c.11423A>G (p.Gln3808Arg) c.9509A>G (p.Gln3170Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2091805T>G | CA394332588 | PKD1,PKD1-AS1 | c.11513A>C (p.Gln3838Pro) c.11510A>C (p.Gln3837Pro) n.502A>C c.6075A>C (n.6075A>C) c.174A>C n.209A>C c.8468A>C (p.Gln2823Pro) c.11591A>C (p.Gln3864Pro) c.11588A>C (p.Gln3863Pro) c.11573A>C (p.Gln3858Pro) c.11567A>C (p.Gln3856Pro) c.11564A>C (p.Gln3855Pro) c.11537A>C (p.Gln3846Pro) c.11519A>C (p.Gln3840Pro) c.11465A>C (p.Gln3822Pro) c.11384A>C (p.Gln3795Pro) c.11327A>C (p.Gln3776Pro) c.9413A>C (p.Gln3138Pro) c.8591A>C (p.Gln2864Pro) n.11606A>C n.11353A>C n.89+191T>G n.179+191T>G n.88+197T>G c.11633A>C (p.Gln3878Pro) c.11561A>C (p.Gln3854Pro) c.11423A>C (p.Gln3808Pro) c.9509A>C (p.Gln3170Pro) | |
| 16 | g.2091805T= | CA2202018285 | PKD1,PKD1-AS1 | c.11513A= (p.Gln3838=) c.11510A= (p.Gln3837=) n.502A= c.6075A= (n.6075A=) c.174A= n.209A= c.8468A= (p.Gln2823=) c.11591A= (p.Gln3864=) c.11588A= (p.Gln3863=) c.11573A= (p.Gln3858=) c.11567A= (p.Gln3856=) c.11564A= (p.Gln3855=) c.11537A= (p.Gln3846=) c.11519A= (p.Gln3840=) c.11465A= (p.Gln3822=) c.11384A= (p.Gln3795=) c.11327A= (p.Gln3776=) c.9413A= (p.Gln3138=) c.8591A= (p.Gln2864=) n.11606A= n.11353A= n.89+191T= n.179+191T= n.88+197T= c.11633A= (p.Gln3878=) c.11561A= (p.Gln3854=) c.11423A= (p.Gln3808=) c.9509A= (p.Gln3170=) | |
| 16 | g.2091806G>A | CA119370 | PKD1,PKD1-AS1 | c.11512C>T (p.Gln3838Ter) c.11509C>T (p.Gln3837Ter) n.501C>T c.6074C>T (n.6074C>T) c.173C>T n.208C>T c.8467C>T (p.Gln2823Ter) c.11590C>T (p.Gln3864Ter) c.11587C>T (p.Gln3863Ter) c.11572C>T (p.Gln3858Ter) c.11566C>T (p.Gln3856Ter) c.11563C>T (p.Gln3855Ter) c.11536C>T (p.Gln3846Ter) c.11518C>T (p.Gln3840Ter) c.11464C>T (p.Gln3822Ter) c.11383C>T (p.Gln3795Ter) c.11326C>T (p.Gln3776Ter) c.9412C>T (p.Gln3138Ter) c.8590C>T (p.Gln2864Ter) n.11605C>T n.11352C>T n.89+192G>A n.179+192G>A n.88+198G>A c.11632C>T (p.Gln3878Ter) c.11560C>T (p.Gln3854Ter) c.11422C>T (p.Gln3808Ter) c.9508C>T (p.Gln3170Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2091806G>C | CA394332593 | PKD1,PKD1-AS1 | c.11512C>G (p.Gln3838Glu) c.11509C>G (p.Gln3837Glu) n.501C>G c.6074C>G (n.6074C>G) c.173C>G n.208C>G c.8467C>G (p.Gln2823Glu) c.11590C>G (p.Gln3864Glu) c.11587C>G (p.Gln3863Glu) c.11572C>G (p.Gln3858Glu) c.11566C>G (p.Gln3856Glu) c.11563C>G (p.Gln3855Glu) c.11536C>G (p.Gln3846Glu) c.11518C>G (p.Gln3840Glu) c.11464C>G (p.Gln3822Glu) c.11383C>G (p.Gln3795Glu) c.11326C>G (p.Gln3776Glu) c.9412C>G (p.Gln3138Glu) c.8590C>G (p.Gln2864Glu) n.11605C>G n.11352C>G n.89+192G>C n.179+192G>C n.88+198G>C c.11632C>G (p.Gln3878Glu) c.11560C>G (p.Gln3854Glu) c.11422C>G (p.Gln3808Glu) c.9508C>G (p.Gln3170Glu) | |
| 16 | g.2091806G= | CA2202018287 | PKD1,PKD1-AS1 | c.11512C= (p.Gln3838=) c.11509C= (p.Gln3837=) n.501C= c.6074C= (n.6074C=) c.173C= n.208C= c.8467C= (p.Gln2823=) c.11590C= (p.Gln3864=) c.11587C= (p.Gln3863=) c.11572C= (p.Gln3858=) c.11566C= (p.Gln3856=) c.11563C= (p.Gln3855=) c.11536C= (p.Gln3846=) c.11518C= (p.Gln3840=) c.11464C= (p.Gln3822=) c.11383C= (p.Gln3795=) c.11326C= (p.Gln3776=) c.9412C= (p.Gln3138=) c.8590C= (p.Gln2864=) n.11605C= n.11352C= n.89+192G= n.179+192G= n.88+198G= c.11632C= (p.Gln3878=) c.11560C= (p.Gln3854=) c.11422C= (p.Gln3808=) c.9508C= (p.Gln3170=) | |
| 16 | g.2091806G>T | CA394332595 | PKD1,PKD1-AS1 | c.11512C>A (p.Gln3838Lys) c.11509C>A (p.Gln3837Lys) n.501C>A c.6074C>A (n.6074C>A) c.173C>A n.208C>A c.8467C>A (p.Gln2823Lys) c.11590C>A (p.Gln3864Lys) c.11587C>A (p.Gln3863Lys) c.11572C>A (p.Gln3858Lys) c.11566C>A (p.Gln3856Lys) c.11563C>A (p.Gln3855Lys) c.11536C>A (p.Gln3846Lys) c.11518C>A (p.Gln3840Lys) c.11464C>A (p.Gln3822Lys) c.11383C>A (p.Gln3795Lys) c.11326C>A (p.Gln3776Lys) c.9412C>A (p.Gln3138Lys) c.8590C>A (p.Gln2864Lys) n.11605C>A n.11352C>A n.89+192G>T n.179+192G>T n.88+198G>T c.11632C>A (p.Gln3878Lys) c.11560C>A (p.Gln3854Lys) c.11422C>A (p.Gln3808Lys) c.9508C>A (p.Gln3170Lys) | gnomAD v4 |