10 | g.93626575C>A | CA2610210120 | PDE6C | c.940-65C>A (n.940-65C>A)
| gnomAD v4 |
10 | g.93626575C>T | CA2574631781 | PDE6C | c.940-65C>T (n.940-65C>T)
| gnomAD v4 |
10 | g.93626576C>T | CA2789038546 | PDE6C | c.940-64C>T (n.940-64C>T)
| |
10 | g.93626577C>A | CA2610210121 | PDE6C | c.940-63C>A (n.940-63C>A)
| gnomAD v4 |
10 | g.93626577C>T | CA2610210122 | PDE6C | c.940-63C>T (n.940-63C>T)
| gnomAD v4 |
10 | g.93626578C>A | CA2610210123 | PDE6C | c.940-62C>A (n.940-62C>A)
| gnomAD v4 |
10 | g.93626578C= | CA1928706277 | PDE6C | c.940-62C= (n.940-62C=)
| |
10 | g.93626578C>G | CA595274868 | PDE6C | c.940-62C>G (n.940-62C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626578C>T | CA1928706278 | PDE6C | c.940-62C>T (n.940-62C>T)
| dbSNP |
10 | g.93626579A>G | CA2588987194 | PDE6C | c.940-61A>G (n.940-61A>G)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.93626580dup | CA2610210124 | PDE6C | c.940-60dup (n.940-60dup)
| gnomAD v4 |
10 | g.93626580A= | CA1928706279 | PDE6C | c.940-60A= (n.940-60A=)
| |
10 | g.93626580A>G | CA211576865 | PDE6C | c.940-60A>G (n.940-60A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626581T>A | CA2610210125 | PDE6C | c.940-59T>A (n.940-59T>A)
| gnomAD v4 |
10 | g.93626581T>C | CA2610210126 | PDE6C | c.940-59T>C (n.940-59T>C)
| gnomAD v4 |
10 | g.93626581T>G | CA1928706281 | PDE6C | c.940-59T>G (n.940-59T>G)
| dbSNP gnomAD v4 |
10 | g.93626581T= | CA1928706280 | PDE6C | c.940-59T= (n.940-59T=)
| |
10 | g.93626582G>A | CA2512282745 | PDE6C | c.940-58G>A (n.940-58G>A)
| |
10 | g.93626582G>T | CA2610210127 | PDE6C | c.940-58G>T (n.940-58G>T)
| gnomAD v4 |
10 | g.93626583A= | CA1928706282 | PDE6C | c.940-57A= (n.940-57A=)
| |
10 | g.93626583A>G | CA211576868 | PDE6C | c.940-57A>G (n.940-57A>G)
| dbSNP |
10 | g.93626587del | CA2610210128 | PDE6C | c.940-53del (n.940-53del)
| gnomAD v4 |
10 | g.93626585A= | CA1928706283 | PDE6C | c.940-55A= (n.940-55A=)
| |
10 | g.93626585A>G | CA211576873 | PDE6C | c.940-55A>G (n.940-55A>G)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.93626589G= | CA1928706284 | PDE6C | c.940-51G= (n.940-51G=)
| |
10 | g.93626589G>T | CA5609992 | PDE6C | c.940-51G>T (n.940-51G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626590A= | CA1928706285 | PDE6C | c.940-50A= (n.940-50A=)
| |
10 | g.93626590A>T | CA211576904 | PDE6C | c.940-50A>T (n.940-50A>T)
| dbSNP gnomAD v4 |
10 | g.93626590_93626594delinsATTTC | CA1928706286 | PDE6C | c.940-50_940-46delinsATTTC (n.940-50_940-46delinsATTTC)
| |
10 | g.93626594_93626597del | CA670077956 | PDE6C | c.940-46_940-43del (n.940-46_940-43del)
| dbSNP |
10 | g.93626594C>A | CA931304092 | PDE6C | c.940-46C>A (n.940-46C>A)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.93626594C= | CA1928706287 | PDE6C | c.940-46C= (n.940-46C=)
| |
10 | g.93626597del | CA2574631782 | PDE6C | c.940-43del (n.940-43del)
| |
10 | g.93626598G>A | CA5609993 | PDE6C | c.940-42G>A (n.940-42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626598G= | CA1928706288 | PDE6C | c.940-42G= (n.940-42G=)
| |
10 | g.93626598G>T | CA2574631783 | PDE6C | c.940-42G>T (n.940-42G>T)
| gnomAD v4 |
10 | g.93626600G>A | CA1928706289 | PDE6C | c.940-40G>A (n.940-40G>A)
| dbSNP |
10 | g.93626600G= | CA1928706290 | PDE6C | c.940-40G= (n.940-40G=)
| |
10 | g.93626600G>T | CA2566134696 | PDE6C | c.940-40G>T (n.940-40G>T)
| |
10 | g.93626603A= | CA1928706291 | PDE6C | c.940-37A= (n.940-37A=)
| |
10 | g.93626603A>G | CA595274869 | PDE6C | c.940-37A>G (n.940-37A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626605A>G | CA2610210129 | PDE6C | c.940-35A>G (n.940-35A>G)
| gnomAD v4 |
10 | g.93626607C>A | CA2610210130 | PDE6C | c.940-33C>A (n.940-33C>A)
| gnomAD v4 |
10 | g.93626607C>T | CA2574631784 | PDE6C | c.940-33C>T (n.940-33C>T)
| gnomAD v4 |
10 | g.93626608A= | CA1928706292 | PDE6C | c.940-32A= (n.940-32A=)
| |
10 | g.93626608A>G | CA5609994 | PDE6C | c.940-32A>G (n.940-32A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626610T>C | CA2789038549 | PDE6C | c.940-30T>C (n.940-30T>C)
| |
10 | g.93626612T>C | CA2610210131 | PDE6C | c.940-28T>C (n.940-28T>C)
| gnomAD v4 |
10 | g.93626613T>G | CA5609995 | PDE6C | c.940-27T>G (n.940-27T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93626613T= | CA1928706293 | PDE6C | c.940-27T= (n.940-27T=)
| |
10 | g.93626614C>A | CA2610210132 | PDE6C | c.940-26C>A (n.940-26C>A)
| gnomAD v4 |
10 | g.93626614C>G | CA2543279393 | PDE6C | c.940-26C>G (n.940-26C>G)
| |
10 | g.93626614C>T | CA2574631785 | PDE6C | c.940-26C>T (n.940-26C>T)
| |
10 | g.93626615C>A | CA2574631786 | PDE6C | c.940-25C>A (n.940-25C>A)
| |
10 | g.93626615C>T | CA2610210133 | PDE6C | c.940-25C>T (n.940-25C>T)
| gnomAD v4 |
10 | g.93626616C>T | CA2610210134 | PDE6C | c.940-24C>T (n.940-24C>T)
| gnomAD v4 |
10 | g.93626617_93626618insACCACAT | CA2557631536 | PDE6C | c.940-23_940-22insACCACAT (n.940-23_940-22insACCACAT)
| |
10 | g.93626618T>C | CA2610210135 | PDE6C | c.940-22T>C (n.940-22T>C)
| gnomAD v4 |
10 | g.93626619A= | CA1928706294 | PDE6C | c.940-21A= (n.940-21A=)
| |
10 | g.93626619A>G | CA211576913 | PDE6C | c.940-21A>G (n.940-21A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626619A>T | CA1928706295 | PDE6C | c.940-21A>T (n.940-21A>T)
| dbSNP |
10 | g.93626620del | CA2574631787 | PDE6C | c.940-20del (n.940-20del)
| |
10 | g.93626622A= | CA1928706296 | PDE6C | c.940-18A= (n.940-18A=)
| |
10 | g.93626622A>G | CA211576915 | PDE6C | c.940-18A>G (n.940-18A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.93626623T>A | CA5609996 | PDE6C | c.940-17T>A (n.940-17T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93626623T>C | CA2610210136 | PDE6C | c.940-17T>C (n.940-17T>C)
| gnomAD v4 |
10 | g.93626623T= | CA1928706297 | PDE6C | c.940-17T= (n.940-17T=)
| |
10 | g.93626625C>A | CA595274870 | PDE6C | c.940-15C>A (n.940-15C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.93626625C= | CA1928706299 | PDE6C | c.940-15C= (n.940-15C=)
| |
10 | g.93626625C>T | CA5609997 | PDE6C | c.940-15C>T (n.940-15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93626625_93626629delinsCTCTT | CA1928706298 | PDE6C | c.940-15_940-11delinsCTCTT (n.940-15_940-11delinsCTCTT)
| |
10 | g.93626626T>C | CA2610210137 | PDE6C | c.940-14T>C (n.940-14T>C)
| gnomAD v4 |
10 | g.93626634_93626637dup | CA2610210138 | PDE6C | c.940-6_940-3dup (n.940-6_940-3dup)
| gnomAD v4 |
10 | g.93626634_93626637del | CA5609998 | PDE6C | c.940-6_940-3del (n.940-6_940-3del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93626627C>A | CA2610210139 | PDE6C | c.940-13C>A (n.940-13C>A)
| gnomAD v4 |
10 | g.93626627C>G | CA2574631793 | PDE6C | c.940-13C>G (n.940-13C>G)
| |
10 | g.93626629T>C | CA595274871 | PDE6C | c.940-11T>C (n.940-11T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626629T= | CA1928706300 | PDE6C | c.940-11T= (n.940-11T=)
| |
10 | g.93626630T>C | CA2610210140 | PDE6C | c.940-10T>C (n.940-10T>C)
| gnomAD v4 |
10 | g.93626631C>A | CA2610210141 | PDE6C | c.940-9C>A (n.940-9C>A)
| gnomAD v4 |
10 | g.93626631C= | CA1928706301 | PDE6C | c.940-9C= (n.940-9C=)
| |
10 | g.93626631C>T | CA670077962 | PDE6C | c.940-9C>T (n.940-9C>T)
| dbSNP |
10 | g.93626632T>C | CA595274872 | PDE6C | c.940-8T>C (n.940-8T>C)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.93626632T= | CA1928706302 | PDE6C | c.940-8T= (n.940-8T=)
| |
10 | g.93626634T>C | CA2541529040 | PDE6C | c.940-6T>C (n.940-6T>C)
| |
10 | g.93626635C>A | CA2610210142 | PDE6C | c.940-5C>A (n.940-5C>A)
| gnomAD v4 |
10 | g.93626636T>C | CA670077968 | PDE6C | c.940-4T>C (n.940-4T>C)
| dbSNP |
10 | g.93626636T= | CA1928706303 | PDE6C | c.940-4T= (n.940-4T=)
| |
10 | g.93626637del | CA2574631794 | PDE6C | c.940-3del (n.940-3del)
| |
10 | g.93626637T>C | CA2610210143 | PDE6C | c.940-3T>C (n.940-3T>C)
| gnomAD v4 |
10 | g.93626638del | CA2574631797 | PDE6C | c.940-2del (n.940-2del)
| |
10 | g.93626638A= | CA1928706304 | PDE6C | c.940-2A= (n.940-2A=)
| |
10 | g.93626638A>C | CA377630880 | PDE6C | c.940-2A>C (n.940-2A>C)
| |
10 | g.93626638A>G | CA377630882 | PDE6C | c.940-2A>G (n.940-2A>G)
| dbSNP gnomAD v4 |
10 | g.93626638A>T | CA377630883 | PDE6C | c.940-2A>T (n.940-2A>T)
| |
10 | g.93626639G>A | CA377630884 | PDE6C | c.940-1G>A (n.940-1G>A)
| |
10 | g.93626639G>C | CA377630885 | PDE6C | c.940-1G>C (n.940-1G>C)
| |
10 | g.93626639G>T | CA377630890 | PDE6C | c.940-1G>T (n.940-1G>T)
| |
10 | g.93626639_93626640delinsAA | CA645548683 | PDE6C | c.940-1_940delinsAA
| COSMIC |
10 | g.93626640G>A | CA377630893 | PDE6C | c.940G>A (p.Glu314Lys)
| gnomAD v4 |
10 | g.93626640G>C | CA377630894 | PDE6C | c.940G>C (p.Glu314Gln)
| |
10 | g.93626640G>T | CA377630897 | PDE6C | c.940G>T (p.Glu314Ter)
| |
10 | g.93626641A>C | CA377630917 | PDE6C | c.941A>C (p.Glu314Ala)
| |
10 | g.93626641A>G | CA377630901 | PDE6C | c.941A>G (p.Glu314Gly)
| |
10 | g.93626641A>T | CA377630915 | PDE6C | c.941A>T (p.Glu314Val)
| |
10 | g.93626642A= | CA1928706305 | PDE6C | c.942A= (p.Glu314=)
| |
10 | g.93626642A>C | CA5609999 | PDE6C | c.942A>C (p.Glu314Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626642A>G | CA470795833 | PDE6C | c.942A>G (p.Glu314=)
| gnomAD v4 |
10 | g.93626642A>T | CA377630923 | PDE6C | c.942A>T (p.Glu314Asp)
| |
10 | g.93626643G>A | CA5610000 | PDE6C | c.943G>A (p.Val315Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93626643G>C | CA377630928 | PDE6C | c.943G>C (p.Val315Leu)
| |
10 | g.93626643G= | CA1928706306 | PDE6C | c.943G= (p.Val315=)
| |
10 | g.93626643G>T | CA377630930 | PDE6C | c.943G>T (p.Val315Phe)
| |
10 | g.93626644T>A | CA377630934 | PDE6C | c.944T>A (p.Val315Asp)
| |
10 | g.93626644T>C | CA377630936 | PDE6C | c.944T>C (p.Val315Ala)
| gnomAD v4 |
10 | g.93626644T>G | CA377630939 | PDE6C | c.944T>G (p.Val315Gly)
| |
10 | g.93626645C>A | CA470795836 | PDE6C | c.945C>A (p.Val315=)
| gnomAD v4 |
10 | g.93626645C= | CA1928706307 | PDE6C | c.945C= (p.Val315=)
| |
10 | g.93626645C>G | CA470795837 | PDE6C | c.945C>G (p.Val315=)
| |
10 | g.93626645C>T | CA5610001 | PDE6C | c.945C>T (p.Val315=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626646A>C | CA377630947 | PDE6C | c.946A>C (p.Asn316His)
| |
10 | g.93626646A>G | CA377630949 | PDE6C | c.946A>G (p.Asn316Asp)
| |
10 | g.93626646A>T | CA377630951 | PDE6C | c.946A>T (p.Asn316Tyr)
| |
10 | g.93626647A= | CA1928706308 | PDE6C | c.947A= (p.Asn316=)
| |
10 | g.93626647A>C | CA5610002 | PDE6C | c.947A>C (p.Asn316Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626647A>G | CA377630958 | PDE6C | c.947A>G (p.Asn316Ser)
| |
10 | g.93626647A>T | CA377630957 | PDE6C | c.947A>T (p.Asn316Ile)
| |
10 | g.93626648C>A | CA377631485 | PDE6C | c.948C>A (p.Asn316Lys)
| gnomAD v4 |
10 | g.93626648C>G | CA377631490 | PDE6C | c.948C>G (p.Asn316Lys)
| |
10 | g.93626648C>T | CA470795928 | PDE6C | c.948C>T (p.Asn316=)
| |
10 | g.93626649T>A | CA377631492 | PDE6C | c.949T>A (p.Phe317Ile)
| |
10 | g.93626649T>C | CA377631494 | PDE6C | c.949T>C (p.Phe317Leu)
| |
10 | g.93626649T>G | CA377631496 | PDE6C | c.949T>G (p.Phe317Val)
| |
10 | g.93626650T>A | CA377631498 | PDE6C | c.950T>A (p.Phe317Tyr)
| |
10 | g.93626650T>C | CA377631500 | PDE6C | c.950T>C (p.Phe317Ser)
| |
10 | g.93626650T>G | CA377631503 | PDE6C | c.950T>G (p.Phe317Cys)
| |
10 | g.93626651T>A | CA377631505 | PDE6C | c.951T>A (p.Phe317Leu)
| |
10 | g.93626651T>C | CA470795934 | PDE6C | c.951T>C (p.Phe317=)
| dbSNP |
10 | g.93626651T>G | CA377631509 | PDE6C | c.951T>G (p.Phe317Leu)
| |
10 | g.93626652T>A | CA377631512 | PDE6C | c.952T>A (p.Tyr318Asn)
| |
10 | g.93626652T>C | CA377631513 | PDE6C | c.952T>C (p.Tyr318His)
| |
10 | g.93626652T>G | CA377631514 | PDE6C | c.952T>G (p.Tyr318Asp)
| |
10 | g.93626653A>C | CA377631523 | PDE6C | c.953A>C (p.Tyr318Ser)
| |
10 | g.93626653A>G | CA377631519 | PDE6C | c.953A>G (p.Tyr318Cys)
| gnomAD v4 |
10 | g.93626653A>T | CA377631517 | PDE6C | c.953A>T (p.Tyr318Phe)
| |
10 | g.93626654T>A | CA377631526 | PDE6C | c.954T>A (p.Tyr318Ter)
| |
10 | g.93626654T>C | CA470795939 | PDE6C | c.954T>C (p.Tyr318=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626654T>G | CA377631527 | PDE6C | c.954T>G (p.Tyr318Ter)
| |
10 | g.93626654T= | CA1928706309 | PDE6C | c.954T= (p.Tyr318=)
| |
10 | g.93626655A>C | CA377631533 | PDE6C | c.955A>C (p.Lys319Gln)
| |
10 | g.93626655A>G | CA377631535 | PDE6C | c.955A>G (p.Lys319Glu)
| |
10 | g.93626655A>T | CA377631538 | PDE6C | c.955A>T (p.Lys319Ter)
| |
10 | g.93626658del | CA2610210144 | PDE6C | c.958del (p.Ile320SerfsTer14)
| gnomAD v4 |
10 | g.93626656A= | CA1928706310 | PDE6C | c.956A= (p.Lys319=)
| |
10 | g.93626656A>C | CA377631541 | PDE6C | c.956A>C (p.Lys319Thr)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.93626656A>G | CA377631544 | PDE6C | c.956A>G (p.Lys319Arg)
| |
10 | g.93626656A>T | CA377631545 | PDE6C | c.956A>T (p.Lys319Ile)
| |
10 | g.93626657A>C | CA377631548 | PDE6C | c.957A>C (p.Lys319Asn)
| |
10 | g.93626657A>G | CA470795940 | PDE6C | c.957A>G (p.Lys319=)
| |
10 | g.93626657A>T | CA377631551 | PDE6C | c.957A>T (p.Lys319Asn)
| |
10 | g.93626658A= | CA1928706311 | PDE6C | c.958A= (p.Ile320=)
| |
10 | g.93626658A>C | CA377631553 | PDE6C | c.958A>C (p.Ile320Leu)
| |
10 | g.93626658A>G | CA377631557 | PDE6C | c.958A>G (p.Ile320Val)
| dbSNP |
10 | g.93626658A>T | CA377631558 | PDE6C | c.958A>T (p.Ile320Phe)
| |
10 | g.93626659T>A | CA377631564 | PDE6C | c.959T>A (p.Ile320Asn)
| |
10 | g.93626659T>C | CA377631566 | PDE6C | c.959T>C (p.Ile320Thr)
| |
10 | g.93626659T>G | CA377631562 | PDE6C | c.959T>G (p.Ile320Ser)
| |
10 | g.93626660C>A | CA470795941 | PDE6C | c.960C>A (p.Ile320=)
| gnomAD v4 |
10 | g.93626660C>G | CA377631568 | PDE6C | c.960C>G (p.Ile320Met)
| |
10 | g.93626660C>T | CA470795942 | PDE6C | c.960C>T (p.Ile320=)
| COSMIC |
10 | g.93626661A>C | CA377631573 | PDE6C | c.961A>C (p.Ile321Leu)
| |
10 | g.93626661A>G | CA377631576 | PDE6C | c.961A>G (p.Ile321Val)
| gnomAD v4 |
10 | g.93626661A>T | CA377631578 | PDE6C | c.961A>T (p.Ile321Phe)
| |
10 | g.93626662T>A | CA377631581 | PDE6C | c.962T>A (p.Ile321Asn)
| gnomAD v4 |
10 | g.93626662T>C | CA377631582 | PDE6C | c.962T>C (p.Ile321Thr)
| |
10 | g.93626662T>G | CA377631585 | PDE6C | c.962T>G (p.Ile321Ser)
| |
10 | g.93626662_93626663del | CA2610210145 | PDE6C | c.962_963del (p.Ile321ArgfsTer25)
| gnomAD v4 |
10 | g.93626663T>A | CA470795943 | PDE6C | c.963T>A (p.Ile321=)
| gnomAD v4 |
10 | g.93626663T>C | CA470795944 | PDE6C | c.963T>C (p.Ile321=)
| |
10 | g.93626663T>G | CA377631590 | PDE6C | c.963T>G (p.Ile321Met)
| |
10 | g.93626664G>A | CA377631593 | PDE6C | c.964G>A (p.Asp322Asn)
| |
10 | g.93626664G>C | CA377631596 | PDE6C | c.964G>C (p.Asp322His)
| |
10 | g.93626664G= | CA1928706312 | PDE6C | c.964G= (p.Asp322=)
| |
10 | g.93626664G>T | CA377631599 | PDE6C | c.964G>T (p.Asp322Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.93626665A>C | CA377631610 | PDE6C | c.965A>C (p.Asp322Ala)
| |
10 | g.93626665A>G | CA377631608 | PDE6C | c.965A>G (p.Asp322Gly)
| |
10 | g.93626665A>T | CA377631606 | PDE6C | c.965A>T (p.Asp322Val)
| |
10 | g.93626666T>A | CA377631613 | PDE6C | c.966T>A (p.Asp322Glu)
| |
10 | g.93626666T>C | CA470795945 | PDE6C | c.966T>C (p.Asp322=)
| |
10 | g.93626666T>G | CA377631617 | PDE6C | c.966T>G (p.Asp322Glu)
| |
10 | g.93626667del | CA2574631800 | PDE6C | c.967del (p.Tyr323ThrfsTer11)
| |
10 | g.93626667T>A | CA119899 | PDE6C | c.967T>A (p.Tyr323Asn)
| ClinVar dbSNP |
10 | g.93626667T>C | CA377631623 | PDE6C | c.967T>C (p.Tyr323His)
| |
10 | g.93626667T>G | CA377631624 | PDE6C | c.967T>G (p.Tyr323Asp)
| |
10 | g.93626667T= | CA1928706313 | PDE6C | c.967T= (p.Tyr323=)
| |
10 | g.93626668del | CA2574631802 | PDE6C | c.968del (p.Tyr323SerfsTer11)
| |
10 | g.93626668A>C | CA377631628 | PDE6C | c.968A>C (p.Tyr323Ser)
| gnomAD v4 |
10 | g.93626668A>G | CA377631629 | PDE6C | c.968A>G (p.Tyr323Cys)
| |
10 | g.93626668A>T | CA377631631 | PDE6C | c.968A>T (p.Tyr323Phe)
| gnomAD v4 |
10 | g.93626669C>A | CA377631633 | PDE6C | c.969C>A (p.Tyr323Ter)
| |
10 | g.93626669C>G | CA377631634 | PDE6C | c.969C>G (p.Tyr323Ter)
| |
10 | g.93626669C>T | CA470795946 | PDE6C | c.969C>T (p.Tyr323=)
| gnomAD v4 |
10 | g.93626670A>C | CA377631638 | PDE6C | c.970A>C (p.Ile324Leu)
| gnomAD v4 |
10 | g.93626670A>G | CA377631639 | PDE6C | c.970A>G (p.Ile324Val)
| gnomAD v4 |
10 | g.93626670A>T | CA377631641 | PDE6C | c.970A>T (p.Ile324Phe)
| |
10 | g.93626671T>A | CA377631648 | PDE6C | c.971T>A (p.Ile324Asn)
| |
10 | g.93626671T>C | CA377631650 | PDE6C | c.971T>C (p.Ile324Thr)
| |
10 | g.93626671T>G | CA377631645 | PDE6C | c.971T>G (p.Ile324Ser)
| |
10 | g.93626674del | CA2574631804 | PDE6C | c.974del (p.Leu325TyrfsTer9)
| gnomAD v4 |
10 | g.93626672T>A | CA470795947 | PDE6C | c.972T>A (p.Ile324=)
| |
10 | g.93626672T>C | CA470795948 | PDE6C | c.972T>C (p.Ile324=)
| |
10 | g.93626672T>G | CA377631654 | PDE6C | c.972T>G (p.Ile324Met)
| |
10 | g.93626673T>A | CA377631657 | PDE6C | c.973T>A (p.Leu325Ile)
| |
10 | g.93626673T>C | CA470795949 | PDE6C | c.973T>C (p.Leu325=)
| |
10 | g.93626673T>G | CA377631659 | PDE6C | c.973T>G (p.Leu325Val)
| |
10 | g.93626674T>A | CA377631663 | PDE6C | c.974T>A (p.Leu325Ter)
| |
10 | g.93626674T>C | CA211576952 | PDE6C | c.974T>C (p.Leu325Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93626674T>G | CA377631667 | PDE6C | c.974T>G (p.Leu325Ter)
| |
10 | g.93626674T= | CA1928706314 | PDE6C | c.974T= (p.Leu325=)
| |
10 | g.93626675A>C | CA377631671 | PDE6C | c.975A>C (p.Leu325Phe)
| |
10 | g.93626675A>G | CA470795950 | PDE6C | c.975A>G (p.Leu325=)
| gnomAD v4 |
10 | g.93626675A>T | CA377631673 | PDE6C | c.975A>T (p.Leu325Phe)
| |