8 | g.1770999G>A | CA849329051 | CLN8 | c.-56G>A (n.-56G>A)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1770999G= | CA1757666481 | CLN8 | c.-56G= (n.-56G=)
| |
8 | g.1771000T>C | CA170445533 | CLN8 | c.-55T>C (n.-55T>C)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771000T>G | CA2685938919 | CLN8 | c.-55T>G (n.-55T>G)
| gnomAD v4 |
8 | g.1771000T= | CA1757666483 | CLN8 | c.-55T= (n.-55T=)
| |
8 | g.1771001G>A | CA170445535 | CLN8 | c.-54G>A (n.-54G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771001G= | CA1757666487 | CLN8 | c.-54G= (n.-54G=)
| |
8 | g.1771001G>T | CA2503099971 | CLN8 | c.-54G>T (n.-54G>T)
| |
8 | g.1771003A>C | CA2685938920 | CLN8 | c.-52A>C (n.-52A>C)
| gnomAD v4 |
8 | g.1771004G>C | CA2579082108 | CLN8 | c.-51G>C (n.-51G>C)
| |
8 | g.1771006del | CA2685938921 | CLN8 | c.-49del (n.-49del)
| gnomAD v4 |
8 | g.1771005G>T | CA2579082109 | CLN8 | c.-50G>T (n.-50G>T)
| |
8 | g.1771006G>C | CA2579082110 | CLN8 | c.-49G>C (n.-49G>C)
| gnomAD v4 |
8 | g.1771006G= | CA1757666489 | CLN8 | c.-49G= (n.-49G=)
| |
8 | g.1771006G>T | CA579552585 | CLN8 | c.-49G>T (n.-49G>T)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771007C>A | CA1757666491 | CLN8 | c.-48C>A (n.-48C>A)
| dbSNP gnomAD v4 |
8 | g.1771007C= | CA1757666490 | CLN8 | c.-48C= (n.-48C=)
| |
8 | g.1771007C>T | CA2515804302 | CLN8 | c.-48C>T (n.-48C>T)
| gnomAD v4 |
8 | g.1771008C>G | CA2685938922 | CLN8 | c.-47C>G (n.-47C>G)
| gnomAD v4 |
8 | g.1771008C>T | CA2685938923 | CLN8 | c.-47C>T (n.-47C>T)
| gnomAD v4 |
8 | g.1771009C= | CA1757666493 | CLN8 | c.-46C= (n.-46C=)
| |
8 | g.1771009C>T | CA314000 | CLN8 | c.-46C>T (n.-46C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771010G>A | CA4599158 | CLN8 | c.-45G>A (n.-45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771010G>C | CA579552586 | CLN8 | c.-45G>C (n.-45G>C)
| dbSNP gnomAD v2 |
8 | g.1771010G= | CA1757666494 | CLN8 | c.-45G= (n.-45G=)
| |
8 | g.1771010G>T | CA2579082111 | CLN8 | c.-45G>T (n.-45G>T)
| gnomAD v4 |
8 | g.1771011G>A | CA2579082112 | CLN8 | c.-44G>A (n.-44G>A)
| |
8 | g.1771012C>A | CA2685938924 | CLN8 | c.-43C>A (n.-43C>A)
| gnomAD v4 |
8 | g.1771012C= | CA1757666496 | CLN8 | c.-43C= (n.-43C=)
| |
8 | g.1771012C>T | CA4599159 | CLN8 | c.-43C>T (n.-43C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771013C= | CA1757666499 | CLN8 | c.-42C= (n.-42C=)
| |
8 | g.1771013C>T | CA1109660895 | CLN8 | c.-42C>T (n.-42C>T)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771014C>A | CA2685938925 | CLN8 | c.-41C>A (n.-41C>A)
| gnomAD v4 |
8 | g.1771014C= | CA1757666501 | CLN8 | c.-41C= (n.-41C=)
| |
8 | g.1771014C>T | CA170445541 | CLN8 | c.-41C>T (n.-41C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771015G>A | CA4599160 | CLN8 | c.-40G>A (n.-40G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771015G>C | CA579552587 | CLN8 | c.-40G>C (n.-40G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771015G= | CA1757666503 | CLN8 | c.-40G= (n.-40G=)
| |
8 | g.1771015G>T | CA4599161 | CLN8 | c.-40G>T (n.-40G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771017G>A | CA2579082113 | CLN8 | c.-38G>A (n.-38G>A)
| |
8 | g.1771019del | CA2685938926 | CLN8 | c.-36del (n.-36del)
| gnomAD v4 |
8 | g.1771020G>A | CA170445545 | CLN8 | c.-35G>A (n.-35G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771020G= | CA1757666505 | CLN8 | c.-35G= (n.-35G=)
| |
8 | g.1771020G>T | CA2685938927 | CLN8 | c.-35G>T (n.-35G>T)
| gnomAD v4 |
8 | g.1771021del | CA2685938928 | CLN8 | c.-34del (n.-34del)
| gnomAD v4 |
8 | g.1771021G>A | CA2579082114 | CLN8 | c.-34G>A (n.-34G>A)
| gnomAD v4 |
8 | g.1771021_1771022delinsGC | CA1757666506 | CLN8 | c.-34_-33delinsGC (n.-34_-33delinsGC)
| |
8 | g.1771022C>A | CA2685938929 | CLN8 | c.-33C>A (n.-33C>A)
| gnomAD v4 |
8 | g.1771022C>T | CA2685938930 | CLN8 | c.-33C>T (n.-33C>T)
| gnomAD v4 |
8 | g.1771025del | CA849329072 | CLN8 | c.-30del (n.-30del)
| dbSNP gnomAD v4 |
8 | g.1771023C>G | CA2685938931 | CLN8 | c.-32C>G (n.-32C>G)
| gnomAD v4 |
8 | g.1771025C= | CA1757666507 | CLN8 | c.-30C= (n.-30C=)
| |
8 | g.1771025C>G | CA170445547 | CLN8 | c.-30C>G (n.-30C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771026A= | CA1757666508 | CLN8 | c.-29A= (n.-29A=)
| |
8 | g.1771026A>C | CA2685938932 | CLN8 | c.-29A>C (n.-29A>C)
| gnomAD v4 |
8 | g.1771026A>G | CA1109660907 | CLN8 | c.-29A>G (n.-29A>G)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771027G>A | CA2685938933 | CLN8 | c.-28G>A (n.-28G>A)
| gnomAD v4 |
8 | g.1771028G>A | CA4599162 | CLN8 | c.-27G>A (n.-27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771028G= | CA1757666509 | CLN8 | c.-27G= (n.-27G=)
| |
8 | g.1771028G>T | CA1109660911 | CLN8 | c.-27G>T (n.-27G>T)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771029A= | CA1757666511 | CLN8 | c.-26A= (n.-26A=)
| |
8 | g.1771029A>T | CA170445550 | CLN8 | c.-26A>T (n.-26A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771030C>G | CA2579082115 | CLN8 | c.-25C>G (n.-25C>G)
| gnomAD v4 |
8 | g.1771031T>A | CA579552588 | CLN8 | c.-24T>A (n.-24T>A)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771031T>C | CA2685938934 | CLN8 | c.-24T>C (n.-24T>C)
| gnomAD v4 |
8 | g.1771031T= | CA1757666513 | CLN8 | c.-24T= (n.-24T=)
| |
8 | g.1771032C= | CA1757666514 | CLN8 | c.-23C= (n.-23C=)
| |
8 | g.1771032C>G | CA2685938935 | CLN8 | c.-23C>G (n.-23C>G)
| gnomAD v4 |
8 | g.1771032C>T | CA4599163 | CLN8 | c.-23C>T (n.-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771037G>T | CA2579082116 | CLN8 | c.-18G>T (n.-18G>T)
| |
8 | g.1771038G>A | CA2685938936 | CLN8 | c.-17G>A (n.-17G>A)
| gnomAD v4 |
8 | g.1771040A>G | CA2685938937 | CLN8 | c.-15A>G (n.-15A>G)
| gnomAD v4 |
8 | g.1771041T>A | CA2579082117 | CLN8 | c.-14T>A (n.-14T>A)
| gnomAD v4 |
8 | g.1771041T>C | CA2685938938 | CLN8 | c.-14T>C (n.-14T>C)
| dbSNP gnomAD v4 |
8 | g.1771043T>C | CA2685938939 | CLN8 | c.-12T>C (n.-12T>C)
| dbSNP gnomAD v4 |
8 | g.1771044A= | CA1757666515 | CLN8 | c.-11A= (n.-11A=)
| |
8 | g.1771044A>G | CA4599164 | CLN8 | c.-11A>G (n.-11A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771045G>A | CA2778736736 | CLN8 | c.-10G>A (n.-10G>A)
| |
8 | g.1771046C>A | CA170445558 | CLN8 | c.-9C>A (n.-9C>A)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771046C= | CA1757666516 | CLN8 | c.-9C= (n.-9C=)
| |
8 | g.1771046C>T | CA849329117 | CLN8 | c.-9C>T (n.-9C>T)
| dbSNP |
8 | g.1771047T>C | CA2685938940 | CLN8 | c.-8T>C (n.-8T>C)
| gnomAD v4 |
8 | g.1771047T>G | CA2685938941 | CLN8 | c.-8T>G (n.-8T>G)
| gnomAD v4 |
8 | g.1771048G>A | CA849329120 | CLN8 | c.-7G>A (n.-7G>A)
| dbSNP gnomAD v4 |
8 | g.1771048G>C | CA2685938942 | CLN8 | c.-7G>C (n.-7G>C)
| gnomAD v4 |
8 | g.1771048G= | CA1757666517 | CLN8 | c.-7G= (n.-7G=)
| |
8 | g.1771049T>C | CA579552589 | CLN8 | c.-6T>C (n.-6T>C)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771049T>G | CA849329124 | CLN8 | c.-6T>G (n.-6T>G)
| dbSNP gnomAD v4 |
8 | g.1771049T= | CA1757666521 | CLN8 | c.-6T= (n.-6T=)
| |
8 | g.1771050G>A | CA4599165 | CLN8 | c.-5G>A (n.-5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771050G>C | CA2685938943 | CLN8 | c.-5G>C (n.-5G>C)
| gnomAD v4 |
8 | g.1771050G= | CA1757666523 | CLN8 | c.-5G= (n.-5G=)
| |
8 | g.1771051G>C | CA2685938944 | CLN8 | c.-4G>C (n.-4G>C)
| gnomAD v4 |
8 | g.1771052A= | CA1757666524 | CLN8 | c.-3A= (n.-3A=)
| |
8 | g.1771052A>G | CA579552590 | CLN8 | c.-3A>G (n.-3A>G)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771053C>A | CA2685938945 | CLN8 | c.-2C>A (n.-2C>A)
| gnomAD v4 |
8 | g.1771053C= | CA1757666525 | CLN8 | c.-2C= (n.-2C=)
| |
8 | g.1771053C>G | CA579552591 | CLN8 | c.-2C>G (n.-2C>G)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771054A= | CA1757666526 | CLN8 | c.-1A= (n.-1A=)
| |
8 | g.1771054A>T | CA314001 | CLN8 | c.-1A>T (n.-1A>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771055del | CA579552592 | CLN8 | c.1del (p.Met1Ter)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771055A= | CA1757666530 | CLN8 | c.1A= (p.Met1=)
| |
8 | g.1771055A>C | CA10575463 | CLN8 | c.1A>C (p.Met1Leu)
| |
8 | g.1771055A>G | CA4599166 | CLN8 | c.1A>G (p.Met1Val)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.1771055A>T | CA369952679 | CLN8 | c.1A>T (p.Met1Leu)
| ClinVar |
8 | g.1771056T>A | CA369952680 | CLN8 | c.2T>A (p.Met1Lys)
| |
8 | g.1771056T>C | CA369952681 | CLN8 | c.2T>C (p.Met1Thr)
| ClinVar dbSNP |
8 | g.1771056T>G | CA369952682 | CLN8 | c.2T>G (p.Met1Arg)
| |
8 | g.1771056T= | CA1757666534 | CLN8 | c.2T= (p.Met1=)
| |
8 | g.1771057G>A | CA369952683 | CLN8 | c.3G>A (p.Met1Ile)
| |
8 | g.1771057G>C | CA369952684 | CLN8 | c.3G>C (p.Met1Ile)
| |
8 | g.1771057G>T | CA369952685 | CLN8 | c.3G>T (p.Met1Ile)
| |
8 | g.1771058A>C | CA369952686 | CLN8 | c.4A>C (p.Asn2His)
| |
8 | g.1771058A>G | CA369952687 | CLN8 | c.4A>G (p.Asn2Asp)
| |
8 | g.1771058A>T | CA369952688 | CLN8 | c.4A>T (p.Asn2Tyr)
| |
8 | g.1771059A= | CA1757666537 | CLN8 | c.5A= (p.Asn2=)
| |
8 | g.1771059A>C | CA369952689 | CLN8 | c.5A>C (p.Asn2Thr)
| |
8 | g.1771059A>G | CA369952691 | CLN8 | c.5A>G (p.Asn2Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.1771059A>T | CA369952690 | CLN8 | c.5A>T (p.Asn2Ile)
| |
8 | g.1771060T>A | CA369952692 | CLN8 | c.6T>A (p.Asn2Lys)
| |
8 | g.1771060T>C | CA4599167 | CLN8 | c.6T>C (p.Asn2=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771060T>G | CA369952693 | CLN8 | c.6T>G (p.Asn2Lys)
| |
8 | g.1771060T= | CA1757666538 | CLN8 | c.6T= (p.Asn2=)
| |
8 | g.1771061C>A | CA369952694 | CLN8 | c.7C>A (p.Pro3Thr)
| |
8 | g.1771061C= | CA1757666543 | CLN8 | c.7C= (p.Pro3=)
| |
8 | g.1771061C>G | CA170445565 | CLN8 | c.7C>G (p.Pro3Ala)
| dbSNP gnomAD v4 |
8 | g.1771061C>T | CA369952695 | CLN8 | c.7C>T (p.Pro3Ser)
| ClinVar dbSNP gnomAD v4 |
8 | g.1771062C>A | CA369952696 | CLN8 | c.8C>A (p.Pro3His)
| |
8 | g.1771062C>G | CA369952697 | CLN8 | c.8C>G (p.Pro3Arg)
| |
8 | g.1771062C>T | CA369952698 | CLN8 | c.8C>T (p.Pro3Leu)
| gnomAD v4 |
8 | g.1771063T>A | CA459142818 | CLN8 | c.9T>A (p.Pro3=)
| |
8 | g.1771063T>C | CA4599168 | CLN8 | c.9T>C (p.Pro3=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771063T>G | CA459142817 | CLN8 | c.9T>G (p.Pro3=)
| |
8 | g.1771063T= | CA1757666545 | CLN8 | c.9T= (p.Pro3=)
| |
8 | g.1771064G>A | CA369952699 | CLN8 | c.10G>A (p.Ala4Thr)
| |
8 | g.1771064G>C | CA369952700 | CLN8 | c.10G>C (p.Ala4Pro)
| |
8 | g.1771064G>T | CA369952701 | CLN8 | c.10G>T (p.Ala4Ser)
| |
8 | g.1771065C>A | CA369952703 | CLN8 | c.11C>A (p.Ala4Glu)
| dbSNP |
8 | g.1771065C= | CA1757666547 | CLN8 | c.11C= (p.Ala4=)
| |
8 | g.1771065C>G | CA369952702 | CLN8 | c.11C>G (p.Ala4Gly)
| |
8 | g.1771065C>T | CA302819 | CLN8 | c.11C>T (p.Ala4Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771066G>A | CA4599169 | CLN8 | c.12G>A (p.Ala4=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.1771066G>C | CA4599170 | CLN8 | c.12G>C (p.Ala4=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771066G= | CA1757666551 | CLN8 | c.12G= (p.Ala4=)
| |
8 | g.1771066G>T | CA459142819 | CLN8 | c.12G>T (p.Ala4=)
| ClinVar dbSNP |
8 | g.1771067A>C | CA369952704 | CLN8 | c.13A>C (p.Ser5Arg)
| |
8 | g.1771067A>G | CA369952705 | CLN8 | c.13A>G (p.Ser5Gly)
| gnomAD v4 |
8 | g.1771067A>T | CA369952706 | CLN8 | c.13A>T (p.Ser5Cys)
| |
8 | g.1771068G>A | CA369952707 | CLN8 | c.14G>A (p.Ser5Asn)
| |
8 | g.1771068G>C | CA369952708 | CLN8 | c.14G>C (p.Ser5Thr)
| |
8 | g.1771068G>T | CA369952709 | CLN8 | c.14G>T (p.Ser5Ile)
| |
8 | g.1771069C>A | CA369952710 | CLN8 | c.15C>A (p.Ser5Arg)
| |
8 | g.1771069C= | CA1757666553 | CLN8 | c.15C= (p.Ser5=)
| |
8 | g.1771069C>G | CA369952711 | CLN8 | c.15C>G (p.Ser5Arg)
| ClinVar dbSNP |
8 | g.1771069C>T | CA4599171 | CLN8 | c.15C>T (p.Ser5=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771070G>A | CA4599173 | CLN8 | c.16G>A (p.Asp6Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771070G>C | CA314029 | CLN8 | c.16G>C (p.Asp6His)
| ClinVar dbSNP gnomAD v4 |
8 | g.1771070G= | CA1757666556 | CLN8 | c.16G= (p.Asp6=)
| |
8 | g.1771070G>T | CA4599172 | CLN8 | c.16G>T (p.Asp6Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771071A= | CA1757666557 | CLN8 | c.17A= (p.Asp6=)
| |
8 | g.1771071A>C | CA369952712 | CLN8 | c.17A>C (p.Asp6Ala)
| |
8 | g.1771071A>G | CA314032 | CLN8 | c.17A>G (p.Asp6Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771071A>T | CA369952713 | CLN8 | c.17A>T (p.Asp6Val)
| |
8 | g.1771072T>A | CA369952714 | CLN8 | c.18T>A (p.Asp6Glu)
| ClinVar dbSNP |
8 | g.1771072T>C | CA459142820 | CLN8 | c.18T>C (p.Asp6=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771072T>G | CA369952715 | CLN8 | c.18T>G (p.Asp6Glu)
| ClinVar |
8 | g.1771072T= | CA1757666558 | CLN8 | c.18T= (p.Asp6=)
| |
8 | g.1771073G>A | CA369952716 | CLN8 | c.19G>A (p.Gly7Arg)
| ClinVar dbSNP |
8 | g.1771073G>C | CA369952717 | CLN8 | c.19G>C (p.Gly7Arg)
| |
8 | g.1771073G= | CA1757666559 | CLN8 | c.19G= (p.Gly7=)
| |
8 | g.1771073G>T | CA4599174 | CLN8 | c.19G>T (p.Gly7Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771074G>A | CA369952718 | CLN8 | c.20G>A (p.Gly7Glu)
| |
8 | g.1771074G>C | CA369952719 | CLN8 | c.20G>C (p.Gly7Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771074G= | CA1757666560 | CLN8 | c.20G= (p.Gly7=)
| |
8 | g.1771074G>T | CA369952720 | CLN8 | c.20G>T (p.Gly7Val)
| |
8 | g.1771075G>A | CA4599176 | CLN8 | c.21G>A (p.Gly7=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771075G>C | CA4599175 | CLN8 | c.21G>C (p.Gly7=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.1771075G= | CA1757666561 | CLN8 | c.21G= (p.Gly7=)
| |
8 | g.1771075G>T | CA459142821 | CLN8 | c.21G>T (p.Gly7=)
| COSMIC COSMIC |
8 | g.1771076G>A | CA170445581 | CLN8 | c.22G>A (p.Gly8Ser)
| dbSNP |
8 | g.1771076G>C | CA369952721 | CLN8 | c.22G>C (p.Gly8Arg)
| |
8 | g.1771076G= | CA1757666562 | CLN8 | c.22G= (p.Gly8=)
| |
8 | g.1771076G>T | CA369952722 | CLN8 | c.22G>T (p.Gly8Cys)
| |
8 | g.1771077G>A | CA369952723 | CLN8 | c.23G>A (p.Gly8Asp)
| |
8 | g.1771077G>C | CA369952724 | CLN8 | c.23G>C (p.Gly8Ala)
| |
8 | g.1771077G= | CA1757666563 | CLN8 | c.23G= (p.Gly8=)
| |
8 | g.1771077G>T | CA4599177 | CLN8 | c.23G>T (p.Gly8Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771078C>A | CA459142824 | CLN8 | c.24C>A (p.Gly8=)
| |
8 | g.1771078C>G | CA459142823 | CLN8 | c.24C>G (p.Gly8=)
| |
8 | g.1771078C>T | CA459142822 | CLN8 | c.24C>T (p.Gly8=)
| gnomAD v4 |
8 | g.1771079A= | CA1757666564 | CLN8 | c.25A= (p.Thr9=)
| |
8 | g.1771079A>C | CA369952725 | CLN8 | c.25A>C (p.Thr9Pro)
| |
8 | g.1771079A>G | CA369952726 | CLN8 | c.25A>G (p.Thr9Ala)
| dbSNP |
8 | g.1771079A>T | CA369952727 | CLN8 | c.25A>T (p.Thr9Ser)
| |
8 | g.1771080C>A | CA369952728 | CLN8 | c.26C>A (p.Thr9Lys)
| |
8 | g.1771080C= | CA1757666565 | CLN8 | c.26C= (p.Thr9=)
| |
8 | g.1771080C>G | CA369952729 | CLN8 | c.26C>G (p.Thr9Arg)
| |
8 | g.1771080C>T | CA369952730 | CLN8 | c.26C>T (p.Thr9Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771081A= | CA1757666566 | CLN8 | c.27A= (p.Thr9=)
| |
8 | g.1771081A>C | CA459142825 | CLN8 | c.27A>C (p.Thr9=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1771081A>G | CA4599178 | CLN8 | c.27A>G (p.Thr9=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771081A>T | CA459142826 | CLN8 | c.27A>T (p.Thr9=)
| |
8 | g.1771082T>A | CA369952731 | CLN8 | c.28T>A (p.Ser10Thr)
| |
8 | g.1771082T>C | CA369952732 | CLN8 | c.28T>C (p.Ser10Pro)
| |
8 | g.1771082T>G | CA369952733 | CLN8 | c.28T>G (p.Ser10Ala)
| |
8 | g.1771083C>A | CA369952736 | CLN8 | c.29C>A (p.Ser10Ter)
| |
8 | g.1771083C= | CA1757666567 | CLN8 | c.29C= (p.Ser10=)
| |
8 | g.1771083C>G | CA369952735 | CLN8 | c.29C>G (p.Ser10Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771083C>T | CA369952734 | CLN8 | c.29C>T (p.Ser10Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771084A>C | CA459142827 | CLN8 | c.30A>C (p.Ser10=)
| |
8 | g.1771084A>G | CA459142828 | CLN8 | c.30A>G (p.Ser10=)
| |
8 | g.1771084A>T | CA459142829 | CLN8 | c.30A>T (p.Ser10=)
| |
8 | g.1771085G>A | CA369952737 | CLN8 | c.31G>A (p.Glu11Lys)
| |
8 | g.1771085G>C | CA369952738 | CLN8 | c.31G>C (p.Glu11Gln)
| gnomAD v4 |
8 | g.1771085G>T | CA369952739 | CLN8 | c.31G>T (p.Glu11Ter)
| |
8 | g.1771086A>C | CA369952740 | CLN8 | c.32A>C (p.Glu11Ala)
| |
8 | g.1771086A>G | CA369952741 | CLN8 | c.32A>G (p.Glu11Gly)
| |
8 | g.1771086A>T | CA369952742 | CLN8 | c.32A>T (p.Glu11Val)
| |
8 | g.1771087G>A | CA459142830 | CLN8 | c.33G>A (p.Glu11=)
| ClinVar dbSNP |
8 | g.1771087G>C | CA369952743 | CLN8 | c.33G>C (p.Glu11Asp)
| |
8 | g.1771087G>T | CA369952744 | CLN8 | c.33G>T (p.Glu11Asp)
| |
8 | g.1771088A>C | CA369952745 | CLN8 | c.34A>C (p.Ser12Arg)
| |
8 | g.1771088A>G | CA369952746 | CLN8 | c.34A>G (p.Ser12Gly)
| |
8 | g.1771088A>T | CA369952747 | CLN8 | c.34A>T (p.Ser12Cys)
| |
8 | g.1771089G>A | CA369952748 | CLN8 | c.35G>A (p.Ser12Asn)
| dbSNP gnomAD v4 |
8 | g.1771089G>C | CA369952749 | CLN8 | c.35G>C (p.Ser12Thr)
| ClinVar dbSNP gnomAD v4 |
8 | g.1771089G= | CA1757666568 | CLN8 | c.35G= (p.Ser12=)
| |
8 | g.1771089G>T | CA369952750 | CLN8 | c.35G>T (p.Ser12Ile)
| gnomAD v4 |
8 | g.1771090C>A | CA369952751 | CLN8 | c.36C>A (p.Ser12Arg)
| |
8 | g.1771090C= | CA1757666569 | CLN8 | c.36C= (p.Ser12=)
| |
8 | g.1771090C>G | CA170445587 | CLN8 | c.36C>G (p.Ser12Arg)
| dbSNP |
8 | g.1771090C>T | CA459142831 | CLN8 | c.36C>T (p.Ser12=)
| |
8 | g.1771091A= | CA1757666570 | CLN8 | c.37A= (p.Ile13=)
| |
8 | g.1771091A>C | CA369952752 | CLN8 | c.37A>C (p.Ile13Leu)
| |
8 | g.1771091A>G | CA369952753 | CLN8 | c.37A>G (p.Ile13Val)
| ClinVar dbSNP |
8 | g.1771091A>T | CA369952754 | CLN8 | c.37A>T (p.Ile13Phe)
| |
8 | g.1771092T>A | CA369952755 | CLN8 | c.38T>A (p.Ile13Asn)
| |
8 | g.1771092T>C | CA369952756 | CLN8 | c.38T>C (p.Ile13Thr)
| gnomAD v4 |
8 | g.1771092T>G | CA369952757 | CLN8 | c.38T>G (p.Ile13Ser)
| |
8 | g.1771093T>A | CA459142832 | CLN8 | c.39T>A (p.Ile13=)
| ClinVar dbSNP |
8 | g.1771093T>C | CA459142833 | CLN8 | c.39T>C (p.Ile13=)
| |
8 | g.1771093T>G | CA369952758 | CLN8 | c.39T>G (p.Ile13Met)
| ClinVar dbSNP |
8 | g.1771093T= | CA1757666571 | CLN8 | c.39T= (p.Ile13=)
| |
8 | g.1771094T>A | CA369952759 | CLN8 | c.40T>A (p.Phe14Ile)
| |
8 | g.1771094T>C | CA369952760 | CLN8 | c.40T>C (p.Phe14Leu)
| |
8 | g.1771094T>G | CA4599179 | CLN8 | c.40T>G (p.Phe14Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1771094T= | CA1757666572 | CLN8 | c.40T= (p.Phe14=)
| |
8 | g.1771095T>A | CA369952761 | CLN8 | c.41T>A (p.Phe14Tyr)
| |
8 | g.1771095T>C | CA170445591 | CLN8 | c.41T>C (p.Phe14Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.1771095T>G | CA369952762 | CLN8 | c.41T>G (p.Phe14Cys)
| |
8 | g.1771095T= | CA1757666573 | CLN8 | c.41T= (p.Phe14=)
| |
8 | g.1771096T>A | CA369952763 | CLN8 | c.42T>A (p.Phe14Leu)
| |
8 | g.1771096T>C | CA459142834 | CLN8 | c.42T>C (p.Phe14=)
| |
8 | g.1771096T>G | CA369952764 | CLN8 | c.42T>G (p.Phe14Leu)
| |
8 | g.1771097del | CA2580614301 | CLN8 | c.43del (p.Asp15ThrfsTer13)
| ClinVar |
8 | g.1771097G>A | CA369952765 | CLN8 | c.43G>A (p.Asp15Asn)
| |
8 | g.1771097G>C | CA369952767 | CLN8 | c.43G>C (p.Asp15His)
| |
8 | g.1771097G= | CA1757666574 | CLN8 | c.43G= (p.Asp15=)
| |
8 | g.1771097G>T | CA369952766 | CLN8 | c.43G>T (p.Asp15Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.1771098A>C | CA369952768 | CLN8 | c.44A>C (p.Asp15Ala)
| |
8 | g.1771098A>G | CA369952770 | CLN8 | c.44A>G (p.Asp15Gly)
| |
8 | g.1771098A>T | CA369952769 | CLN8 | c.44A>T (p.Asp15Val)
| |
8 | g.1771099C>A | CA369952771 | CLN8 | c.45C>A (p.Asp15Glu)
| |
8 | g.1771099C= | CA1757666575 | CLN8 | c.45C= (p.Asp15=)
| |
8 | g.1771099C>G | CA369952772 | CLN8 | c.45C>G (p.Asp15Glu)
| |
8 | g.1771099C>T | CA4599180 | CLN8 | c.45C>T (p.Asp15=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |