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 |
|---|---|---|---|---|---|
| 10 | g.71815098_71815104dup | CA2609588536 | CDH23 | c.9885_9891dup (p.Asn3298ArgfsTer?) c.3818_3824dup (n.3818_3824dup) c.3377_3383dup (n.3377_3383dup) c.9900_9906dup (p.Asn3303ArgfsTer?) c.3165_3171dup (p.Asn1058ArgfsTer?) n.3316_3322dup c.3060_3066dup (p.Asn1023ArgfsTer?) c.576_582dup (p.Asn195ArgfsTer?) c.471_477dup (p.Asn160ArgfsTer?) c.10080_10086dup (p.Asn3363ArgfsTer?) c.10014_10020dup (p.Asn3341ArgfsTer?) c.10077_10083dup (p.Asn3362ArgfsTer?) c.10074_10080dup (p.Asn3361ArgfsTer?) c.10020_10026dup (p.Asn3343ArgfsTer?) c.9990_9996dup (p.Asn3333ArgfsTer?) c.9975_9981dup (p.Asn3328ArgfsTer?) c.9945_9951dup (p.Asn3318ArgfsTer?) c.9540_9546dup (p.Asn3183ArgfsTer?) c.8898_8904dup (p.Asn2969ArgfsTer?) c.6408_6414dup (p.Asn2139ArgfsTer?) | gnomAD v4 |
| 10 | g.71815099G>A | CA5547202 | CDH23 | c.9886G>A (p.Asp3296Asn) c.3819G>A (n.3819G>A) c.3378G>A (n.3378G>A) c.9901G>A (p.Asp3301Asn) c.3166G>A (p.Asp1056Asn) n.3317G>A c.3061G>A (p.Asp1021Asn) c.577G>A (p.Asp193Asn) c.472G>A (p.Asp158Asn) c.10081G>A (p.Asp3361Asn) c.10015G>A (p.Asp3339Asn) c.10078G>A (p.Asp3360Asn) c.10075G>A (p.Asp3359Asn) c.10021G>A (p.Asp3341Asn) c.9991G>A (p.Asp3331Asn) c.9976G>A (p.Asp3326Asn) c.9946G>A (p.Asp3316Asn) c.9541G>A (p.Asp3181Asn) c.8899G>A (p.Asp2967Asn) c.6409G>A (p.Asp2137Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71815099G>C | CA377138353 | CDH23 | c.9886G>C (p.Asp3296His) c.3819G>C (n.3819G>C) c.3378G>C (n.3378G>C) c.9901G>C (p.Asp3301His) c.3166G>C (p.Asp1056His) n.3317G>C c.3061G>C (p.Asp1021His) c.577G>C (p.Asp193His) c.472G>C (p.Asp158His) c.10081G>C (p.Asp3361His) c.10015G>C (p.Asp3339His) c.10078G>C (p.Asp3360His) c.10075G>C (p.Asp3359His) c.10021G>C (p.Asp3341His) c.9991G>C (p.Asp3331His) c.9976G>C (p.Asp3326His) c.9946G>C (p.Asp3316His) c.9541G>C (p.Asp3181His) c.8899G>C (p.Asp2967His) c.6409G>C (p.Asp2137His) | |
| 10 | g.71815099G= | CA1918895766 | CDH23 | c.9886G= (p.Asp3296=) c.3819G= (n.3819G=) c.3378G= (n.3378G=) c.9901G= (p.Asp3301=) c.3166G= (p.Asp1056=) n.3317G= c.3061G= (p.Asp1021=) c.577G= (p.Asp193=) c.472G= (p.Asp158=) c.10081G= (p.Asp3361=) c.10015G= (p.Asp3339=) c.10078G= (p.Asp3360=) c.10075G= (p.Asp3359=) c.10021G= (p.Asp3341=) c.9991G= (p.Asp3331=) c.9976G= (p.Asp3326=) c.9946G= (p.Asp3316=) c.9541G= (p.Asp3181=) c.8899G= (p.Asp2967=) c.6409G= (p.Asp2137=) | |
| 10 | g.71815099G>T | CA377138355 | CDH23 | c.9886G>T (p.Asp3296Tyr) c.3819G>T (n.3819G>T) c.3378G>T (n.3378G>T) c.9901G>T (p.Asp3301Tyr) c.3166G>T (p.Asp1056Tyr) n.3317G>T c.3061G>T (p.Asp1021Tyr) c.577G>T (p.Asp193Tyr) c.472G>T (p.Asp158Tyr) c.10081G>T (p.Asp3361Tyr) c.10015G>T (p.Asp3339Tyr) c.10078G>T (p.Asp3360Tyr) c.10075G>T (p.Asp3359Tyr) c.10021G>T (p.Asp3341Tyr) c.9991G>T (p.Asp3331Tyr) c.9976G>T (p.Asp3326Tyr) c.9946G>T (p.Asp3316Tyr) c.9541G>T (p.Asp3181Tyr) c.8899G>T (p.Asp2967Tyr) c.6409G>T (p.Asp2137Tyr) | gnomAD v4 |
| 10 | g.71815100A= | CA1918895770 | CDH23 | c.9887A= (p.Asp3296=) c.3820A= (n.3820A=) c.3379A= (n.3379A=) c.9902A= (p.Asp3301=) c.3167A= (p.Asp1056=) n.3318A= c.3062A= (p.Asp1021=) c.578A= (p.Asp193=) c.473A= (p.Asp158=) c.10082A= (p.Asp3361=) c.10016A= (p.Asp3339=) c.10079A= (p.Asp3360=) c.10076A= (p.Asp3359=) c.10022A= (p.Asp3341=) c.9992A= (p.Asp3331=) c.9977A= (p.Asp3326=) c.9947A= (p.Asp3316=) c.9542A= (p.Asp3181=) c.8900A= (p.Asp2967=) c.6410A= (p.Asp2137=) | |
| 10 | g.71815100A>C | CA377138359 | CDH23 | c.9887A>C (p.Asp3296Ala) c.3820A>C (n.3820A>C) c.3379A>C (n.3379A>C) c.9902A>C (p.Asp3301Ala) c.3167A>C (p.Asp1056Ala) n.3318A>C c.3062A>C (p.Asp1021Ala) c.578A>C (p.Asp193Ala) c.473A>C (p.Asp158Ala) c.10082A>C (p.Asp3361Ala) c.10016A>C (p.Asp3339Ala) c.10079A>C (p.Asp3360Ala) c.10076A>C (p.Asp3359Ala) c.10022A>C (p.Asp3341Ala) c.9992A>C (p.Asp3331Ala) c.9977A>C (p.Asp3326Ala) c.9947A>C (p.Asp3316Ala) c.9542A>C (p.Asp3181Ala) c.8900A>C (p.Asp2967Ala) c.6410A>C (p.Asp2137Ala) | |
| 10 | g.71815100A>G | CA5547203 | CDH23 | c.9887A>G (p.Asp3296Gly) c.3820A>G (n.3820A>G) c.3379A>G (n.3379A>G) c.9902A>G (p.Asp3301Gly) c.3167A>G (p.Asp1056Gly) n.3318A>G c.3062A>G (p.Asp1021Gly) c.578A>G (p.Asp193Gly) c.473A>G (p.Asp158Gly) c.10082A>G (p.Asp3361Gly) c.10016A>G (p.Asp3339Gly) c.10079A>G (p.Asp3360Gly) c.10076A>G (p.Asp3359Gly) c.10022A>G (p.Asp3341Gly) c.9992A>G (p.Asp3331Gly) c.9977A>G (p.Asp3326Gly) c.9947A>G (p.Asp3316Gly) c.9542A>G (p.Asp3181Gly) c.8900A>G (p.Asp2967Gly) c.6410A>G (p.Asp2137Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71815100A>T | CA377138362 | CDH23 | c.9887A>T (p.Asp3296Val) c.3820A>T (n.3820A>T) c.3379A>T (n.3379A>T) c.9902A>T (p.Asp3301Val) c.3167A>T (p.Asp1056Val) n.3318A>T c.3062A>T (p.Asp1021Val) c.578A>T (p.Asp193Val) c.473A>T (p.Asp158Val) c.10082A>T (p.Asp3361Val) c.10016A>T (p.Asp3339Val) c.10079A>T (p.Asp3360Val) c.10076A>T (p.Asp3359Val) c.10022A>T (p.Asp3341Val) c.9992A>T (p.Asp3331Val) c.9977A>T (p.Asp3326Val) c.9947A>T (p.Asp3316Val) c.9542A>T (p.Asp3181Val) c.8900A>T (p.Asp2967Val) c.6410A>T (p.Asp2137Val) | dbSNP |
| 10 | g.71815101C>A | CA377138366 | CDH23 | c.9888C>A (p.Asp3296Glu) c.3821C>A (n.3821C>A) c.3380C>A (n.3380C>A) c.9903C>A (p.Asp3301Glu) c.3168C>A (p.Asp1056Glu) n.3319C>A c.3063C>A (p.Asp1021Glu) c.579C>A (p.Asp193Glu) c.474C>A (p.Asp158Glu) c.10083C>A (p.Asp3361Glu) c.10017C>A (p.Asp3339Glu) c.10080C>A (p.Asp3360Glu) c.10077C>A (p.Asp3359Glu) c.10023C>A (p.Asp3341Glu) c.9993C>A (p.Asp3331Glu) c.9978C>A (p.Asp3326Glu) c.9948C>A (p.Asp3316Glu) c.9543C>A (p.Asp3181Glu) c.8901C>A (p.Asp2967Glu) c.6411C>A (p.Asp2137Glu) | gnomAD v4 |
| 10 | g.71815101C= | CA1918895773 | CDH23 | c.9888C= (p.Asp3296=) c.3821C= (n.3821C=) c.3380C= (n.3380C=) c.9903C= (p.Asp3301=) c.3168C= (p.Asp1056=) n.3319C= c.3063C= (p.Asp1021=) c.579C= (p.Asp193=) c.474C= (p.Asp158=) c.10083C= (p.Asp3361=) c.10017C= (p.Asp3339=) c.10080C= (p.Asp3360=) c.10077C= (p.Asp3359=) c.10023C= (p.Asp3341=) c.9993C= (p.Asp3331=) c.9978C= (p.Asp3326=) c.9948C= (p.Asp3316=) c.9543C= (p.Asp3181=) c.8901C= (p.Asp2967=) c.6411C= (p.Asp2137=) | |
| 10 | g.71815101C>G | CA377138364 | CDH23 | c.9888C>G (p.Asp3296Glu) c.3821C>G (n.3821C>G) c.3380C>G (n.3380C>G) c.9903C>G (p.Asp3301Glu) c.3168C>G (p.Asp1056Glu) n.3319C>G c.3063C>G (p.Asp1021Glu) c.579C>G (p.Asp193Glu) c.474C>G (p.Asp158Glu) c.10083C>G (p.Asp3361Glu) c.10017C>G (p.Asp3339Glu) c.10080C>G (p.Asp3360Glu) c.10077C>G (p.Asp3359Glu) c.10023C>G (p.Asp3341Glu) c.9993C>G (p.Asp3331Glu) c.9978C>G (p.Asp3326Glu) c.9948C>G (p.Asp3316Glu) c.9543C>G (p.Asp3181Glu) c.8901C>G (p.Asp2967Glu) c.6411C>G (p.Asp2137Glu) | |
| 10 | g.71815101C>T | CA470283273 | CDH23 | c.9888C>T (p.Asp3296=) c.3821C>T (n.3821C>T) c.3380C>T (n.3380C>T) c.9903C>T (p.Asp3301=) c.3168C>T (p.Asp1056=) n.3319C>T c.3063C>T (p.Asp1021=) c.579C>T (p.Asp193=) c.474C>T (p.Asp158=) c.10083C>T (p.Asp3361=) c.10017C>T (p.Asp3339=) c.10080C>T (p.Asp3360=) c.10077C>T (p.Asp3359=) c.10023C>T (p.Asp3341=) c.9993C>T (p.Asp3331=) c.9978C>T (p.Asp3326=) c.9948C>T (p.Asp3316=) c.9543C>T (p.Asp3181=) c.8901C>T (p.Asp2967=) c.6411C>T (p.Asp2137=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71815102C>A | CA377138368 | CDH23 | c.9889C>A (p.Leu3297Ile) c.3822C>A (n.3822C>A) c.3381C>A (n.3381C>A) c.9904C>A (p.Leu3302Ile) c.3169C>A (p.Leu1057Ile) n.3320C>A c.3064C>A (p.Leu1022Ile) c.580C>A (p.Leu194Ile) c.475C>A (p.Leu159Ile) c.10084C>A (p.Leu3362Ile) c.10018C>A (p.Leu3340Ile) c.10081C>A (p.Leu3361Ile) c.10078C>A (p.Leu3360Ile) c.10024C>A (p.Leu3342Ile) c.9994C>A (p.Leu3332Ile) c.9979C>A (p.Leu3327Ile) c.9949C>A (p.Leu3317Ile) c.9544C>A (p.Leu3182Ile) c.8902C>A (p.Leu2968Ile) c.6412C>A (p.Leu2138Ile) | |
| 10 | g.71815102C>G | CA377138369 | CDH23 | c.9889C>G (p.Leu3297Val) c.3822C>G (n.3822C>G) c.3381C>G (n.3381C>G) c.9904C>G (p.Leu3302Val) c.3169C>G (p.Leu1057Val) n.3320C>G c.3064C>G (p.Leu1022Val) c.580C>G (p.Leu194Val) c.475C>G (p.Leu159Val) c.10084C>G (p.Leu3362Val) c.10018C>G (p.Leu3340Val) c.10081C>G (p.Leu3361Val) c.10078C>G (p.Leu3360Val) c.10024C>G (p.Leu3342Val) c.9994C>G (p.Leu3332Val) c.9979C>G (p.Leu3327Val) c.9949C>G (p.Leu3317Val) c.9544C>G (p.Leu3182Val) c.8902C>G (p.Leu2968Val) c.6412C>G (p.Leu2138Val) | |
| 10 | g.71815102C>T | CA377138371 | CDH23 | c.9889C>T (p.Leu3297Phe) c.3822C>T (n.3822C>T) c.3381C>T (n.3381C>T) c.9904C>T (p.Leu3302Phe) c.3169C>T (p.Leu1057Phe) n.3320C>T c.3064C>T (p.Leu1022Phe) c.580C>T (p.Leu194Phe) c.475C>T (p.Leu159Phe) c.10084C>T (p.Leu3362Phe) c.10018C>T (p.Leu3340Phe) c.10081C>T (p.Leu3361Phe) c.10078C>T (p.Leu3360Phe) c.10024C>T (p.Leu3342Phe) c.9994C>T (p.Leu3332Phe) c.9979C>T (p.Leu3327Phe) c.9949C>T (p.Leu3317Phe) c.9544C>T (p.Leu3182Phe) c.8902C>T (p.Leu2968Phe) c.6412C>T (p.Leu2138Phe) | gnomAD v4 |
| 10 | g.71815103T>A | CA377138374 | CDH23 | c.9890T>A (p.Leu3297His) c.3823T>A (n.3823T>A) c.3382T>A (n.3382T>A) c.9905T>A (p.Leu3302His) c.3170T>A (p.Leu1057His) n.3321T>A c.3065T>A (p.Leu1022His) c.581T>A (p.Leu194His) c.476T>A (p.Leu159His) c.10085T>A (p.Leu3362His) c.10019T>A (p.Leu3340His) c.10082T>A (p.Leu3361His) c.10079T>A (p.Leu3360His) c.10025T>A (p.Leu3342His) c.9995T>A (p.Leu3332His) c.9980T>A (p.Leu3327His) c.9950T>A (p.Leu3317His) c.9545T>A (p.Leu3182His) c.8903T>A (p.Leu2968His) c.6413T>A (p.Leu2138His) | dbSNP |
| 10 | g.71815103T>C | CA377138375 | CDH23 | c.9890T>C (p.Leu3297Pro) c.3823T>C (n.3823T>C) c.3382T>C (n.3382T>C) c.9905T>C (p.Leu3302Pro) c.3170T>C (p.Leu1057Pro) n.3321T>C c.3065T>C (p.Leu1022Pro) c.581T>C (p.Leu194Pro) c.476T>C (p.Leu159Pro) c.10085T>C (p.Leu3362Pro) c.10019T>C (p.Leu3340Pro) c.10082T>C (p.Leu3361Pro) c.10079T>C (p.Leu3360Pro) c.10025T>C (p.Leu3342Pro) c.9995T>C (p.Leu3332Pro) c.9980T>C (p.Leu3327Pro) c.9950T>C (p.Leu3317Pro) c.9545T>C (p.Leu3182Pro) c.8903T>C (p.Leu2968Pro) c.6413T>C (p.Leu2138Pro) | |
| 10 | g.71815103T>G | CA377138377 | CDH23 | c.9890T>G (p.Leu3297Arg) c.3823T>G (n.3823T>G) c.3382T>G (n.3382T>G) c.9905T>G (p.Leu3302Arg) c.3170T>G (p.Leu1057Arg) n.3321T>G c.3065T>G (p.Leu1022Arg) c.581T>G (p.Leu194Arg) c.476T>G (p.Leu159Arg) c.10085T>G (p.Leu3362Arg) c.10019T>G (p.Leu3340Arg) c.10082T>G (p.Leu3361Arg) c.10079T>G (p.Leu3360Arg) c.10025T>G (p.Leu3342Arg) c.9995T>G (p.Leu3332Arg) c.9980T>G (p.Leu3327Arg) c.9950T>G (p.Leu3317Arg) c.9545T>G (p.Leu3182Arg) c.8903T>G (p.Leu2968Arg) c.6413T>G (p.Leu2138Arg) | |
| 10 | g.71815104C>A | CA470283276 | CDH23 | c.9891C>A (p.Leu3297=) c.3824C>A (n.3824C>A) c.3383C>A (n.3383C>A) c.9906C>A (p.Leu3302=) c.3171C>A (p.Leu1057=) n.3322C>A c.3066C>A (p.Leu1022=) c.582C>A (p.Leu194=) c.477C>A (p.Leu159=) c.10086C>A (p.Leu3362=) c.10020C>A (p.Leu3340=) c.10083C>A (p.Leu3361=) c.10080C>A (p.Leu3360=) c.10026C>A (p.Leu3342=) c.9996C>A (p.Leu3332=) c.9981C>A (p.Leu3327=) c.9951C>A (p.Leu3317=) c.9546C>A (p.Leu3182=) c.8904C>A (p.Leu2968=) c.6414C>A (p.Leu2138=) | |
| 10 | g.71815104C>G | CA470283277 | CDH23 | c.9891C>G (p.Leu3297=) c.3824C>G (n.3824C>G) c.3383C>G (n.3383C>G) c.9906C>G (p.Leu3302=) c.3171C>G (p.Leu1057=) n.3322C>G c.3066C>G (p.Leu1022=) c.582C>G (p.Leu194=) c.477C>G (p.Leu159=) c.10086C>G (p.Leu3362=) c.10020C>G (p.Leu3340=) c.10083C>G (p.Leu3361=) c.10080C>G (p.Leu3360=) c.10026C>G (p.Leu3342=) c.9996C>G (p.Leu3332=) c.9981C>G (p.Leu3327=) c.9951C>G (p.Leu3317=) c.9546C>G (p.Leu3182=) c.8904C>G (p.Leu2968=) c.6414C>G (p.Leu2138=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.71815104C>T | CA470283278 | CDH23 | c.9891C>T (p.Leu3297=) c.3824C>T (n.3824C>T) c.3383C>T (n.3383C>T) c.9906C>T (p.Leu3302=) c.3171C>T (p.Leu1057=) n.3322C>T c.3066C>T (p.Leu1022=) c.582C>T (p.Leu194=) c.477C>T (p.Leu159=) c.10086C>T (p.Leu3362=) c.10020C>T (p.Leu3340=) c.10083C>T (p.Leu3361=) c.10080C>T (p.Leu3360=) c.10026C>T (p.Leu3342=) c.9996C>T (p.Leu3332=) c.9981C>T (p.Leu3327=) c.9951C>T (p.Leu3317=) c.9546C>T (p.Leu3182=) c.8904C>T (p.Leu2968=) c.6414C>T (p.Leu2138=) | dbSNP COSMIC |
| 10 | g.71815106_71815108del | CA2609588597 | CDH23 | c.9893_9895del (p.Asn3298del) c.3826_3828del (n.3826_3828del) c.3385_3387del (n.3385_3387del) c.9908_9910del (p.Asn3303del) c.3173_3175del (p.Asn1058del) n.3324_3326del c.3068_3070del (p.Asn1023del) c.584_586del (p.Asn195del) c.479_481del (p.Asn160del) c.10088_10090del (p.Asn3363del) c.10022_10024del (p.Asn3341del) c.10085_10087del (p.Asn3362del) c.10082_10084del (p.Asn3361del) c.10028_10030del (p.Asn3343del) c.9998_10000del (p.Asn3333del) c.9983_9985del (p.Asn3328del) c.9953_9955del (p.Asn3318del) c.9548_9550del (p.Asn3183del) c.8906_8908del (p.Asn2969del) c.6416_6418del (p.Asn2139del) | gnomAD v4 |
| 10 | g.71815105A>C | CA377138381 | CDH23 | c.9892A>C (p.Asn3298His) c.3825A>C (n.3825A>C) c.3384A>C (n.3384A>C) c.9907A>C (p.Asn3303His) c.3172A>C (p.Asn1058His) n.3323A>C c.3067A>C (p.Asn1023His) c.583A>C (p.Asn195His) c.478A>C (p.Asn160His) c.10087A>C (p.Asn3363His) c.10021A>C (p.Asn3341His) c.10084A>C (p.Asn3362His) c.10081A>C (p.Asn3361His) c.10027A>C (p.Asn3343His) c.9997A>C (p.Asn3333His) c.9982A>C (p.Asn3328His) c.9952A>C (p.Asn3318His) c.9547A>C (p.Asn3183His) c.8905A>C (p.Asn2969His) c.6415A>C (p.Asn2139His) | |
| 10 | g.71815105A>G | CA377138379 | CDH23 | c.9892A>G (p.Asn3298Asp) c.3825A>G (n.3825A>G) c.3384A>G (n.3384A>G) c.9907A>G (p.Asn3303Asp) c.3172A>G (p.Asn1058Asp) n.3323A>G c.3067A>G (p.Asn1023Asp) c.583A>G (p.Asn195Asp) c.478A>G (p.Asn160Asp) c.10087A>G (p.Asn3363Asp) c.10021A>G (p.Asn3341Asp) c.10084A>G (p.Asn3362Asp) c.10081A>G (p.Asn3361Asp) c.10027A>G (p.Asn3343Asp) c.9997A>G (p.Asn3333Asp) c.9982A>G (p.Asn3328Asp) c.9952A>G (p.Asn3318Asp) c.9547A>G (p.Asn3183Asp) c.8905A>G (p.Asn2969Asp) c.6415A>G (p.Asn2139Asp) | |
| 10 | g.71815105A>T | CA377138380 | CDH23 | c.9892A>T (p.Asn3298Tyr) c.3825A>T (n.3825A>T) c.3384A>T (n.3384A>T) c.9907A>T (p.Asn3303Tyr) c.3172A>T (p.Asn1058Tyr) n.3323A>T c.3067A>T (p.Asn1023Tyr) c.583A>T (p.Asn195Tyr) c.478A>T (p.Asn160Tyr) c.10087A>T (p.Asn3363Tyr) c.10021A>T (p.Asn3341Tyr) c.10084A>T (p.Asn3362Tyr) c.10081A>T (p.Asn3361Tyr) c.10027A>T (p.Asn3343Tyr) c.9997A>T (p.Asn3333Tyr) c.9982A>T (p.Asn3328Tyr) c.9952A>T (p.Asn3318Tyr) c.9547A>T (p.Asn3183Tyr) c.8905A>T (p.Asn2969Tyr) c.6415A>T (p.Asn2139Tyr) | |
| 10 | g.71815106A>C | CA377138384 | CDH23 | c.9893A>C (p.Asn3298Thr) c.3826A>C (n.3826A>C) c.3385A>C (n.3385A>C) c.9908A>C (p.Asn3303Thr) c.3173A>C (p.Asn1058Thr) n.3324A>C c.3068A>C (p.Asn1023Thr) c.584A>C (p.Asn195Thr) c.479A>C (p.Asn160Thr) c.10088A>C (p.Asn3363Thr) c.10022A>C (p.Asn3341Thr) c.10085A>C (p.Asn3362Thr) c.10082A>C (p.Asn3361Thr) c.10028A>C (p.Asn3343Thr) c.9998A>C (p.Asn3333Thr) c.9983A>C (p.Asn3328Thr) c.9953A>C (p.Asn3318Thr) c.9548A>C (p.Asn3183Thr) c.8906A>C (p.Asn2969Thr) c.6416A>C (p.Asn2139Thr) | |
| 10 | g.71815106A>G | CA377138385 | CDH23 | c.9893A>G (p.Asn3298Ser) c.3826A>G (n.3826A>G) c.3385A>G (n.3385A>G) c.9908A>G (p.Asn3303Ser) c.3173A>G (p.Asn1058Ser) n.3324A>G c.3068A>G (p.Asn1023Ser) c.584A>G (p.Asn195Ser) c.479A>G (p.Asn160Ser) c.10088A>G (p.Asn3363Ser) c.10022A>G (p.Asn3341Ser) c.10085A>G (p.Asn3362Ser) c.10082A>G (p.Asn3361Ser) c.10028A>G (p.Asn3343Ser) c.9998A>G (p.Asn3333Ser) c.9983A>G (p.Asn3328Ser) c.9953A>G (p.Asn3318Ser) c.9548A>G (p.Asn3183Ser) c.8906A>G (p.Asn2969Ser) c.6416A>G (p.Asn2139Ser) | |
| 10 | g.71815106A>T | CA377138387 | CDH23 | c.9893A>T (p.Asn3298Ile) c.3826A>T (n.3826A>T) c.3385A>T (n.3385A>T) c.9908A>T (p.Asn3303Ile) c.3173A>T (p.Asn1058Ile) n.3324A>T c.3068A>T (p.Asn1023Ile) c.584A>T (p.Asn195Ile) c.479A>T (p.Asn160Ile) c.10088A>T (p.Asn3363Ile) c.10022A>T (p.Asn3341Ile) c.10085A>T (p.Asn3362Ile) c.10082A>T (p.Asn3361Ile) c.10028A>T (p.Asn3343Ile) c.9998A>T (p.Asn3333Ile) c.9983A>T (p.Asn3328Ile) c.9953A>T (p.Asn3318Ile) c.9548A>T (p.Asn3183Ile) c.8906A>T (p.Asn2969Ile) c.6416A>T (p.Asn2139Ile) | dbSNP |
| 10 | g.71815107C>A | CA377138390 | CDH23 | c.9894C>A (p.Asn3298Lys) c.3827C>A (n.3827C>A) c.3386C>A (n.3386C>A) c.9909C>A (p.Asn3303Lys) c.3174C>A (p.Asn1058Lys) n.3325C>A c.3069C>A (p.Asn1023Lys) c.585C>A (p.Asn195Lys) c.480C>A (p.Asn160Lys) c.10089C>A (p.Asn3363Lys) c.10023C>A (p.Asn3341Lys) c.10086C>A (p.Asn3362Lys) c.10083C>A (p.Asn3361Lys) c.10029C>A (p.Asn3343Lys) c.9999C>A (p.Asn3333Lys) c.9984C>A (p.Asn3328Lys) c.9954C>A (p.Asn3318Lys) c.9549C>A (p.Asn3183Lys) c.8907C>A (p.Asn2969Lys) c.6417C>A (p.Asn2139Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71815107C= | CA1918895779 | CDH23 | c.9894C= (p.Asn3298=) c.3827C= (n.3827C=) c.3386C= (n.3386C=) c.9909C= (p.Asn3303=) c.3174C= (p.Asn1058=) n.3325C= c.3069C= (p.Asn1023=) c.585C= (p.Asn195=) c.480C= (p.Asn160=) c.10089C= (p.Asn3363=) c.10023C= (p.Asn3341=) c.10086C= (p.Asn3362=) c.10083C= (p.Asn3361=) c.10029C= (p.Asn3343=) c.9999C= (p.Asn3333=) c.9984C= (p.Asn3328=) c.9954C= (p.Asn3318=) c.9549C= (p.Asn3183=) c.8907C= (p.Asn2969=) c.6417C= (p.Asn2139=) | |
| 10 | g.71815107C>G | CA377138391 | CDH23 | c.9894C>G (p.Asn3298Lys) c.3827C>G (n.3827C>G) c.3386C>G (n.3386C>G) c.9909C>G (p.Asn3303Lys) c.3174C>G (p.Asn1058Lys) n.3325C>G c.3069C>G (p.Asn1023Lys) c.585C>G (p.Asn195Lys) c.480C>G (p.Asn160Lys) c.10089C>G (p.Asn3363Lys) c.10023C>G (p.Asn3341Lys) c.10086C>G (p.Asn3362Lys) c.10083C>G (p.Asn3361Lys) c.10029C>G (p.Asn3343Lys) c.9999C>G (p.Asn3333Lys) c.9984C>G (p.Asn3328Lys) c.9954C>G (p.Asn3318Lys) c.9549C>G (p.Asn3183Lys) c.8907C>G (p.Asn2969Lys) c.6417C>G (p.Asn2139Lys) | |
| 10 | g.71815107C>T | CA470283282 | CDH23 | c.9894C>T (p.Asn3298=) c.3827C>T (n.3827C>T) c.3386C>T (n.3386C>T) c.9909C>T (p.Asn3303=) c.3174C>T (p.Asn1058=) n.3325C>T c.3069C>T (p.Asn1023=) c.585C>T (p.Asn195=) c.480C>T (p.Asn160=) c.10089C>T (p.Asn3363=) c.10023C>T (p.Asn3341=) c.10086C>T (p.Asn3362=) c.10083C>T (p.Asn3361=) c.10029C>T (p.Asn3343=) c.9999C>T (p.Asn3333=) c.9984C>T (p.Asn3328=) c.9954C>T (p.Asn3318=) c.9549C>T (p.Asn3183=) c.8907C>T (p.Asn2969=) c.6417C>T (p.Asn2139=) | dbSNP gnomAD v2 |
| 10 | g.71815108A= | CA1918895783 | CDH23 | c.9895A= (p.Ser3299=) c.3828A= (n.3828A=) c.3387A= (n.3387A=) c.9910A= (p.Ser3304=) c.3175A= (p.Ser1059=) n.3326A= c.3070A= (p.Ser1024=) c.586A= (p.Ser196=) c.481A= (p.Ser161=) c.10090A= (p.Ser3364=) c.10024A= (p.Ser3342=) c.10087A= (p.Ser3363=) c.10084A= (p.Ser3362=) c.10030A= (p.Ser3344=) c.10000A= (p.Ser3334=) c.9985A= (p.Ser3329=) c.9955A= (p.Ser3319=) c.9550A= (p.Ser3184=) c.8908A= (p.Ser2970=) c.6418A= (p.Ser2140=) | |
| 10 | g.71815108A>C | CA377138394 | CDH23 | c.9895A>C (p.Ser3299Arg) c.3828A>C (n.3828A>C) c.3387A>C (n.3387A>C) c.9910A>C (p.Ser3304Arg) c.3175A>C (p.Ser1059Arg) n.3326A>C c.3070A>C (p.Ser1024Arg) c.586A>C (p.Ser196Arg) c.481A>C (p.Ser161Arg) c.10090A>C (p.Ser3364Arg) c.10024A>C (p.Ser3342Arg) c.10087A>C (p.Ser3363Arg) c.10084A>C (p.Ser3362Arg) c.10030A>C (p.Ser3344Arg) c.10000A>C (p.Ser3334Arg) c.9985A>C (p.Ser3329Arg) c.9955A>C (p.Ser3319Arg) c.9550A>C (p.Ser3184Arg) c.8908A>C (p.Ser2970Arg) c.6418A>C (p.Ser2140Arg) | gnomAD v4 |
| 10 | g.71815108A>G | CA5547204 | CDH23 | c.9895A>G (p.Ser3299Gly) c.3828A>G (n.3828A>G) c.3387A>G (n.3387A>G) c.9910A>G (p.Ser3304Gly) c.3175A>G (p.Ser1059Gly) n.3326A>G c.3070A>G (p.Ser1024Gly) c.586A>G (p.Ser196Gly) c.481A>G (p.Ser161Gly) c.10090A>G (p.Ser3364Gly) c.10024A>G (p.Ser3342Gly) c.10087A>G (p.Ser3363Gly) c.10084A>G (p.Ser3362Gly) c.10030A>G (p.Ser3344Gly) c.10000A>G (p.Ser3334Gly) c.9985A>G (p.Ser3329Gly) c.9955A>G (p.Ser3319Gly) c.9550A>G (p.Ser3184Gly) c.8908A>G (p.Ser2970Gly) c.6418A>G (p.Ser2140Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71815108A>T | CA377138396 | CDH23 | c.9895A>T (p.Ser3299Cys) c.3828A>T (n.3828A>T) c.3387A>T (n.3387A>T) c.9910A>T (p.Ser3304Cys) c.3175A>T (p.Ser1059Cys) n.3326A>T c.3070A>T (p.Ser1024Cys) c.586A>T (p.Ser196Cys) c.481A>T (p.Ser161Cys) c.10090A>T (p.Ser3364Cys) c.10024A>T (p.Ser3342Cys) c.10087A>T (p.Ser3363Cys) c.10084A>T (p.Ser3362Cys) c.10030A>T (p.Ser3344Cys) c.10000A>T (p.Ser3334Cys) c.9985A>T (p.Ser3329Cys) c.9955A>T (p.Ser3319Cys) c.9550A>T (p.Ser3184Cys) c.8908A>T (p.Ser2970Cys) c.6418A>T (p.Ser2140Cys) | |
| 10 | g.71815109G>A | CA377138400 | CDH23 | c.9896G>A (p.Ser3299Asn) c.3829G>A (n.3829G>A) c.3388G>A (n.3388G>A) c.9911G>A (p.Ser3304Asn) c.3176G>A (p.Ser1059Asn) n.3327G>A c.3071G>A (p.Ser1024Asn) c.587G>A (p.Ser196Asn) c.482G>A (p.Ser161Asn) c.10091G>A (p.Ser3364Asn) c.10025G>A (p.Ser3342Asn) c.10088G>A (p.Ser3363Asn) c.10085G>A (p.Ser3362Asn) c.10031G>A (p.Ser3344Asn) c.10001G>A (p.Ser3334Asn) c.9986G>A (p.Ser3329Asn) c.9956G>A (p.Ser3319Asn) c.9551G>A (p.Ser3184Asn) c.8909G>A (p.Ser2970Asn) c.6419G>A (p.Ser2140Asn) | gnomAD v4 |
| 10 | g.71815109G>C | CA377138401 | CDH23 | c.9896G>C (p.Ser3299Thr) c.3829G>C (n.3829G>C) c.3388G>C (n.3388G>C) c.9911G>C (p.Ser3304Thr) c.3176G>C (p.Ser1059Thr) n.3327G>C c.3071G>C (p.Ser1024Thr) c.587G>C (p.Ser196Thr) c.482G>C (p.Ser161Thr) c.10091G>C (p.Ser3364Thr) c.10025G>C (p.Ser3342Thr) c.10088G>C (p.Ser3363Thr) c.10085G>C (p.Ser3362Thr) c.10031G>C (p.Ser3344Thr) c.10001G>C (p.Ser3334Thr) c.9986G>C (p.Ser3329Thr) c.9956G>C (p.Ser3319Thr) c.9551G>C (p.Ser3184Thr) c.8909G>C (p.Ser2970Thr) c.6419G>C (p.Ser2140Thr) | gnomAD v4 |
| 10 | g.71815109G>T | CA377138403 | CDH23 | c.9896G>T (p.Ser3299Ile) c.3829G>T (n.3829G>T) c.3388G>T (n.3388G>T) c.9911G>T (p.Ser3304Ile) c.3176G>T (p.Ser1059Ile) n.3327G>T c.3071G>T (p.Ser1024Ile) c.587G>T (p.Ser196Ile) c.482G>T (p.Ser161Ile) c.10091G>T (p.Ser3364Ile) c.10025G>T (p.Ser3342Ile) c.10088G>T (p.Ser3363Ile) c.10085G>T (p.Ser3362Ile) c.10031G>T (p.Ser3344Ile) c.10001G>T (p.Ser3334Ile) c.9986G>T (p.Ser3329Ile) c.9956G>T (p.Ser3319Ile) c.9551G>T (p.Ser3184Ile) c.8909G>T (p.Ser2970Ile) c.6419G>T (p.Ser2140Ile) | gnomAD v4 |
| 10 | g.71815110C>A | CA377138406 | CDH23 | c.9897C>A (p.Ser3299Arg) c.3830C>A (n.3830C>A) c.3389C>A (n.3389C>A) c.9912C>A (p.Ser3304Arg) c.3177C>A (p.Ser1059Arg) n.3328C>A c.3072C>A (p.Ser1024Arg) c.588C>A (p.Ser196Arg) c.483C>A (p.Ser161Arg) c.10092C>A (p.Ser3364Arg) c.10026C>A (p.Ser3342Arg) c.10089C>A (p.Ser3363Arg) c.10086C>A (p.Ser3362Arg) c.10032C>A (p.Ser3344Arg) c.10002C>A (p.Ser3334Arg) c.9987C>A (p.Ser3329Arg) c.9957C>A (p.Ser3319Arg) c.9552C>A (p.Ser3184Arg) c.8910C>A (p.Ser2970Arg) c.6420C>A (p.Ser2140Arg) | |
| 10 | g.71815110C= | CA1918895786 | CDH23 | c.9897C= (p.Ser3299=) c.3830C= (n.3830C=) c.3389C= (n.3389C=) c.9912C= (p.Ser3304=) c.3177C= (p.Ser1059=) n.3328C= c.3072C= (p.Ser1024=) c.588C= (p.Ser196=) c.483C= (p.Ser161=) c.10092C= (p.Ser3364=) c.10026C= (p.Ser3342=) c.10089C= (p.Ser3363=) c.10086C= (p.Ser3362=) c.10032C= (p.Ser3344=) c.10002C= (p.Ser3334=) c.9987C= (p.Ser3329=) c.9957C= (p.Ser3319=) c.9552C= (p.Ser3184=) c.8910C= (p.Ser2970=) c.6420C= (p.Ser2140=) | |
| 10 | g.71815110C>G | CA377138407 | CDH23 | c.9897C>G (p.Ser3299Arg) c.3830C>G (n.3830C>G) c.3389C>G (n.3389C>G) c.9912C>G (p.Ser3304Arg) c.3177C>G (p.Ser1059Arg) n.3328C>G c.3072C>G (p.Ser1024Arg) c.588C>G (p.Ser196Arg) c.483C>G (p.Ser161Arg) c.10092C>G (p.Ser3364Arg) c.10026C>G (p.Ser3342Arg) c.10089C>G (p.Ser3363Arg) c.10086C>G (p.Ser3362Arg) c.10032C>G (p.Ser3344Arg) c.10002C>G (p.Ser3334Arg) c.9987C>G (p.Ser3329Arg) c.9957C>G (p.Ser3319Arg) c.9552C>G (p.Ser3184Arg) c.8910C>G (p.Ser2970Arg) c.6420C>G (p.Ser2140Arg) | |
| 10 | g.71815110C>T | CA5547205 | CDH23 | c.9897C>T (p.Ser3299=) c.3830C>T (n.3830C>T) c.3389C>T (n.3389C>T) c.9912C>T (p.Ser3304=) c.3177C>T (p.Ser1059=) n.3328C>T c.3072C>T (p.Ser1024=) c.588C>T (p.Ser196=) c.483C>T (p.Ser161=) c.10092C>T (p.Ser3364=) c.10026C>T (p.Ser3342=) c.10089C>T (p.Ser3363=) c.10086C>T (p.Ser3362=) c.10032C>T (p.Ser3344=) c.10002C>T (p.Ser3334=) c.9987C>T (p.Ser3329=) c.9957C>T (p.Ser3319=) c.9552C>T (p.Ser3184=) c.8910C>T (p.Ser2970=) c.6420C>T (p.Ser2140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71815111C>A | CA377138409 | CDH23 | c.9898C>A (p.Leu3300Met) c.3831C>A (n.3831C>A) c.3390C>A (n.3390C>A) c.9913C>A (p.Leu3305Met) c.3178C>A (p.Leu1060Met) n.3329C>A c.3073C>A (p.Leu1025Met) c.589C>A (p.Leu197Met) c.484C>A (p.Leu162Met) c.10093C>A (p.Leu3365Met) c.10027C>A (p.Leu3343Met) c.10090C>A (p.Leu3364Met) c.10087C>A (p.Leu3363Met) c.10033C>A (p.Leu3345Met) c.10003C>A (p.Leu3335Met) c.9988C>A (p.Leu3330Met) c.9958C>A (p.Leu3320Met) c.9553C>A (p.Leu3185Met) c.8911C>A (p.Leu2971Met) c.6421C>A (p.Leu2141Met) | |
| 10 | g.71815111C>G | CA377138416 | CDH23 | c.9898C>G (p.Leu3300Val) c.3831C>G (n.3831C>G) c.3390C>G (n.3390C>G) c.9913C>G (p.Leu3305Val) c.3178C>G (p.Leu1060Val) n.3329C>G c.3073C>G (p.Leu1025Val) c.589C>G (p.Leu197Val) c.484C>G (p.Leu162Val) c.10093C>G (p.Leu3365Val) c.10027C>G (p.Leu3343Val) c.10090C>G (p.Leu3364Val) c.10087C>G (p.Leu3363Val) c.10033C>G (p.Leu3345Val) c.10003C>G (p.Leu3335Val) c.9988C>G (p.Leu3330Val) c.9958C>G (p.Leu3320Val) c.9553C>G (p.Leu3185Val) c.8911C>G (p.Leu2971Val) c.6421C>G (p.Leu2141Val) | |
| 10 | g.71815111C>T | CA470283287 | CDH23 | c.9898C>T (p.Leu3300=) c.3831C>T (n.3831C>T) c.3390C>T (n.3390C>T) c.9913C>T (p.Leu3305=) c.3178C>T (p.Leu1060=) n.3329C>T c.3073C>T (p.Leu1025=) c.589C>T (p.Leu197=) c.484C>T (p.Leu162=) c.10093C>T (p.Leu3365=) c.10027C>T (p.Leu3343=) c.10090C>T (p.Leu3364=) c.10087C>T (p.Leu3363=) c.10033C>T (p.Leu3345=) c.10003C>T (p.Leu3335=) c.9988C>T (p.Leu3330=) c.9958C>T (p.Leu3320=) c.9553C>T (p.Leu3185=) c.8911C>T (p.Leu2971=) c.6421C>T (p.Leu2141=) | ClinVar |
| 10 | g.71815112T>A | CA377138418 | CDH23 | c.9899T>A (p.Leu3300Gln) c.3832T>A (n.3832T>A) c.3391T>A (n.3391T>A) c.9914T>A (p.Leu3305Gln) c.3179T>A (p.Leu1060Gln) n.3330T>A c.3074T>A (p.Leu1025Gln) c.590T>A (p.Leu197Gln) c.485T>A (p.Leu162Gln) c.10094T>A (p.Leu3365Gln) c.10028T>A (p.Leu3343Gln) c.10091T>A (p.Leu3364Gln) c.10088T>A (p.Leu3363Gln) c.10034T>A (p.Leu3345Gln) c.10004T>A (p.Leu3335Gln) c.9989T>A (p.Leu3330Gln) c.9959T>A (p.Leu3320Gln) c.9554T>A (p.Leu3185Gln) c.8912T>A (p.Leu2971Gln) c.6422T>A (p.Leu2141Gln) | |
| 10 | g.71815112T>C | CA377138420 | CDH23 | c.9899T>C (p.Leu3300Pro) c.3832T>C (n.3832T>C) c.3391T>C (n.3391T>C) c.9914T>C (p.Leu3305Pro) c.3179T>C (p.Leu1060Pro) n.3330T>C c.3074T>C (p.Leu1025Pro) c.590T>C (p.Leu197Pro) c.485T>C (p.Leu162Pro) c.10094T>C (p.Leu3365Pro) c.10028T>C (p.Leu3343Pro) c.10091T>C (p.Leu3364Pro) c.10088T>C (p.Leu3363Pro) c.10034T>C (p.Leu3345Pro) c.10004T>C (p.Leu3335Pro) c.9989T>C (p.Leu3330Pro) c.9959T>C (p.Leu3320Pro) c.9554T>C (p.Leu3185Pro) c.8912T>C (p.Leu2971Pro) c.6422T>C (p.Leu2141Pro) | |
| 10 | g.71815112T>G | CA377138426 | CDH23 | c.9899T>G (p.Leu3300Arg) c.3832T>G (n.3832T>G) c.3391T>G (n.3391T>G) c.9914T>G (p.Leu3305Arg) c.3179T>G (p.Leu1060Arg) n.3330T>G c.3074T>G (p.Leu1025Arg) c.590T>G (p.Leu197Arg) c.485T>G (p.Leu162Arg) c.10094T>G (p.Leu3365Arg) c.10028T>G (p.Leu3343Arg) c.10091T>G (p.Leu3364Arg) c.10088T>G (p.Leu3363Arg) c.10034T>G (p.Leu3345Arg) c.10004T>G (p.Leu3335Arg) c.9989T>G (p.Leu3330Arg) c.9959T>G (p.Leu3320Arg) c.9554T>G (p.Leu3185Arg) c.8912T>G (p.Leu2971Arg) c.6422T>G (p.Leu2141Arg) |