| X | g.120469114A= | CA2454879174 | LAMP2 | c.56T= (p.Leu19=)
| |
| X | g.120469114A>C | CA134140 | LAMP2 | c.56T>G (p.Leu19Arg)
| ClinVar dbSNP |
| X | g.120469114A>G | CA414397824 | LAMP2 | c.56T>C (p.Leu19Pro)
| |
| X | g.120469114A>T | CA414397825 | LAMP2 | c.56T>A (p.Leu19Gln)
| |
| X | g.120469115G>A | CA518411588 | LAMP2 | c.55C>T (p.Leu19=)
| |
| X | g.120469115G>C | CA414397826 | LAMP2 | c.55C>G (p.Leu19Val)
| gnomAD v4 |
| X | g.120469115G>T | CA414397827 | LAMP2 | c.55C>A (p.Leu19Ile)
| |
| X | g.120469116G>A | CA518411593 | LAMP2 | c.54C>T (p.Cys18=)
| |
| X | g.120469116G>C | CA414397828 | LAMP2 | c.54C>G (p.Cys18Trp)
| |
| X | g.120469116G>T | CA414397829 | LAMP2 | c.54C>A (p.Cys18Ter)
| ClinVar dbSNP |
| X | g.120469117C>A | CA414397830 | LAMP2 | c.53G>T (p.Cys18Phe)
| gnomAD v4 |
| X | g.120469117C= | CA2454879175 | LAMP2 | c.53G= (p.Cys18=)
| |
| X | g.120469117C>G | CA414397831 | LAMP2 | c.53G>C (p.Cys18Ser)
| dbSNP |
| X | g.120469117C>T | CA414397832 | LAMP2 | c.53G>A (p.Cys18Tyr)
| |
| X | g.120469118A>C | CA414397835 | LAMP2 | c.52T>G (p.Cys18Gly)
| |
| X | g.120469118A>G | CA414397834 | LAMP2 | c.52T>C (p.Cys18Arg)
| ClinVar |
| X | g.120469118A>T | CA414397833 | LAMP2 | c.52T>A (p.Cys18Ser)
| |
| X | g.120469120_120469137del | CA2499226342 | LAMP2 | c.35_52del (p.Ser12_Val17del)
| ClinVar dbSNP |
| X | g.120469119G>A | CA518411612 | LAMP2 | c.51C>T (p.Val17=)
| |
| X | g.120469119G>C | CA518411610 | LAMP2 | c.51C>G (p.Val17=)
| |
| X | g.120469119G>T | CA518411607 | LAMP2 | c.51C>A (p.Val17=)
| |
| X | g.120469120A>C | CA414397836 | LAMP2 | c.50T>G (p.Val17Gly)
| |
| X | g.120469120A>G | CA414397838 | LAMP2 | c.50T>C (p.Val17Ala)
| |
| X | g.120469120A>T | CA414397837 | LAMP2 | c.50T>A (p.Val17Asp)
| |
| X | g.120469121C>A | CA10505371 | LAMP2 | c.49G>T (p.Val17Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469121C= | CA2454879176 | LAMP2 | c.49G= (p.Val17=)
| |
| X | g.120469121C>G | CA414397839 | LAMP2 | c.49G>C (p.Val17Leu)
| |
| X | g.120469121C>T | CA10505372 | LAMP2 | c.49G>A (p.Val17Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469122C>A | CA518411624 | LAMP2 | c.48G>T (p.Leu16=)
| |
| X | g.120469122C>G | CA518411625 | LAMP2 | c.48G>C (p.Leu16=)
| |
| X | g.120469122C>T | CA518411627 | LAMP2 | c.48G>A (p.Leu16=)
| |
| X | g.120469123A>C | CA414397840 | LAMP2 | c.47T>G (p.Leu16Arg)
| |
| X | g.120469123A>G | CA414397841 | LAMP2 | c.47T>C (p.Leu16Pro)
| |
| X | g.120469123A>T | CA414397842 | LAMP2 | c.47T>A (p.Leu16Gln)
| |
| X | g.120469124G>A | CA518411633 | LAMP2 | c.46C>T (p.Leu16=)
| ClinVar |
| X | g.120469124G>C | CA414397843 | LAMP2 | c.46C>G (p.Leu16Val)
| |
| X | g.120469124G>T | CA414397845 | LAMP2 | c.46C>A (p.Leu16Met)
| |
| X | g.120469125A= | CA2454879177 | LAMP2 | c.45T= (p.Val15=)
| |
| X | g.120469125A>C | CA518411638 | LAMP2 | c.45T>G (p.Val15=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469125A>G | CA518411642 | LAMP2 | c.45T>C (p.Val15=)
| |
| X | g.120469125A>T | CA518411640 | LAMP2 | c.45T>A (p.Val15=)
| ClinVar |
| X | g.120469126A>C | CA414397847 | LAMP2 | c.44T>G (p.Val15Gly)
| |
| X | g.120469126A>G | CA414397850 | LAMP2 | c.44T>C (p.Val15Ala)
| |
| X | g.120469126A>T | CA414397853 | LAMP2 | c.44T>A (p.Val15Asp)
| |
| X | g.120469127C>A | CA414397859 | LAMP2 | c.43G>T (p.Val15Phe)
| |
| X | g.120469127C>G | CA414397858 | LAMP2 | c.43G>C (p.Val15Leu)
| |
| X | g.120469127C>T | CA414397856 | LAMP2 | c.43G>A (p.Val15Ile)
| |
| X | g.120469127_120469134delinsCGAGCCCT | CA2454879178 | LAMP2 | c.36_43delinsAGGGCTCG (p.Ser12=)
| |
| X | g.120469128G>A | CA176523 | LAMP2 | c.42C>T (p.Leu14=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120469128G>C | CA518411656 | LAMP2 | c.42C>G (p.Leu14=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469128G= | CA2454879179 | LAMP2 | c.42C= (p.Leu14=)
| |
| X | g.120469128G>T | CA518411659 | LAMP2 | c.42C>A (p.Leu14=)
| |
| X | g.120469134_120469140del | CA870743116 | LAMP2 | c.36_42del (p.Gly13PhefsTer5)
| ClinVar dbSNP |
| X | g.120469129A= | CA2454879180 | LAMP2 | c.41T= (p.Leu14=)
| |
| X | g.120469129A>C | CA414397864 | LAMP2 | c.41T>G (p.Leu14Arg)
| |
| X | g.120469129A>G | CA414397865 | LAMP2 | c.41T>C (p.Leu14Pro)
| dbSNP |
| X | g.120469129A>T | CA414397866 | LAMP2 | c.41T>A (p.Leu14His)
| |
| X | g.120469130G>A | CA414397867 | LAMP2 | c.40C>T (p.Leu14Phe)
| gnomAD v4 |
| X | g.120469130G>C | CA414397868 | LAMP2 | c.40C>G (p.Leu14Val)
| |
| X | g.120469130G>T | CA414397869 | LAMP2 | c.40C>A (p.Leu14Ile)
| COSMIC COSMIC COSMIC |
| X | g.120469131C>A | CA10505373 | LAMP2 | c.39G>T (p.Gly13=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469131C= | CA2454879181 | LAMP2 | c.39G= (p.Gly13=)
| |
| X | g.120469131C>G | CA518411674 | LAMP2 | c.39G>C (p.Gly13=)
| |
| X | g.120469131C>T | CA518411672 | LAMP2 | c.39G>A (p.Gly13=)
| |
| X | g.120469132C>A | CA414397870 | LAMP2 | c.38G>T (p.Gly13Val)
| |
| X | g.120469132C= | CA2454879182 | LAMP2 | c.38G= (p.Gly13=)
| |
| X | g.120469132C>G | CA414397871 | LAMP2 | c.38G>C (p.Gly13Ala)
| |
| X | g.120469132C>T | CA414397872 | LAMP2 | c.38G>A (p.Gly13Glu)
| dbSNP gnomAD v4 |
| X | g.120469133C>A | CA335014949 | LAMP2 | c.37G>T (p.Gly13Trp)
| dbSNP |
| X | g.120469133C= | CA2454879183 | LAMP2 | c.37G= (p.Gly13=)
| |
| X | g.120469133C>G | CA414397878 | LAMP2 | c.37G>C (p.Gly13Arg)
| |
| X | g.120469133C>T | CA414397876 | LAMP2 | c.37G>A (p.Gly13Arg)
| |
| X | g.120469134T>A | CA518411682 | LAMP2 | c.36A>T (p.Ser12=)
| |
| X | g.120469134T>C | CA518411684 | LAMP2 | c.36A>G (p.Ser12=)
| dbSNP gnomAD v4 |
| X | g.120469134T>G | CA518411686 | LAMP2 | c.36A>C (p.Ser12=)
| |
| X | g.120469134T= | CA2454879184 | LAMP2 | c.36A= (p.Ser12=)
| |
| X | g.120469135G>A | CA414397884 | LAMP2 | c.35C>T (p.Ser12Leu)
| COSMIC COSMIC COSMIC |
| X | g.120469135G>C | CA414397888 | LAMP2 | c.35C>G (p.Ser12Ter)
| |
| X | g.120469135G= | CA2454879185 | LAMP2 | c.35C= (p.Ser12=)
| |
| X | g.120469135G>T | CA414397900 | LAMP2 | c.35C>A (p.Ser12Ter)
| |
| X | g.120469137_120469143dup | CA2695235730 | LAMP2 | c.29_35dup (p.Val15ArgfsTer20)
| |
| X | g.120469136A= | CA2454879186 | LAMP2 | c.34T= (p.Ser12=)
| |
| X | g.120469136A>C | CA414397916 | LAMP2 | c.34T>G (p.Ser12Ala)
| dbSNP |
| X | g.120469136A>G | CA10505374 | LAMP2 | c.34T>C (p.Ser12Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469136A>T | CA335014950 | LAMP2 | c.34T>A (p.Ser12Thr)
| dbSNP |
| X | g.120469136dup | CA1139667768 | LAMP2 | c.34dup (p.Ser12PhefsTer21)
| ClinVar dbSNP |
| X | g.120469137G>A | CA518411704 | LAMP2 | c.33C>T (p.Gly11=)
| gnomAD v4 |
| X | g.120469137G>C | CA518411705 | LAMP2 | c.33C>G (p.Gly11=)
| |
| X | g.120469137G>T | CA518411707 | LAMP2 | c.33C>A (p.Gly11=)
| |
| X | g.120469138C>A | CA176530 | LAMP2 | c.32G>T (p.Gly11Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469138C= | CA2454879187 | LAMP2 | c.32G= (p.Gly11=)
| |
| X | g.120469138C>G | CA335014951 | LAMP2 | c.32G>C (p.Gly11Ala)
| dbSNP |
| X | g.120469138C>T | CA414397933 | LAMP2 | c.32G>A (p.Gly11Asp)
| |
| X | g.120469139C>A | CA414397938 | LAMP2 | c.31G>T (p.Gly11Cys)
| |
| X | g.120469139C>G | CA414397941 | LAMP2 | c.31G>C (p.Gly11Arg)
| |
| X | g.120469139C>T | CA414397945 | LAMP2 | c.31G>A (p.Gly11Ser)
| |
| X | g.120469140C>A | CA518411724 | LAMP2 | c.30G>T (p.Pro10=)
| gnomAD v4 |
| X | g.120469140C= | CA2454879188 | LAMP2 | c.30G= (p.Pro10=)
| |
| X | g.120469140C>G | CA518411719 | LAMP2 | c.30G>C (p.Pro10=)
| ClinVar |
| X | g.120469140C>T | CA335014952 | LAMP2 | c.30G>A (p.Pro10=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469141G>A | CA10505375 | LAMP2 | c.29C>T (p.Pro10Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469141G>C | CA414397954 | LAMP2 | c.29C>G (p.Pro10Arg)
| |
| X | g.120469141G= | CA2454879189 | LAMP2 | c.29C= (p.Pro10=)
| |
| X | g.120469141G>T | CA414397957 | LAMP2 | c.29C>A (p.Pro10Gln)
| |
| X | g.120469142del | CA2573055088 | LAMP2 | c.29del (p.Pro10ArgfsTer10)
| dbSNP |
| X | g.120469142G>A | CA414397964 | LAMP2 | c.28C>T (p.Pro10Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469142G>C | CA414397969 | LAMP2 | c.28C>G (p.Pro10Ala)
| |
| X | g.120469142G= | CA2454879190 | LAMP2 | c.28C= (p.Pro10=)
| |
| X | g.120469142G>T | CA414397972 | LAMP2 | c.28C>A (p.Pro10Thr)
| |
| X | g.120469143A>C | CA518411736 | LAMP2 | c.27T>G (p.Val9=)
| |
| X | g.120469143A>G | CA518411737 | LAMP2 | c.27T>C (p.Val9=)
| |
| X | g.120469143A>T | CA518411740 | LAMP2 | c.27T>A (p.Val9=)
| |
| X | g.120469144A= | CA2454879191 | LAMP2 | c.26T= (p.Val9=)
| |
| X | g.120469144A>C | CA414397977 | LAMP2 | c.26T>G (p.Val9Gly)
| |
| X | g.120469144A>G | CA335014953 | LAMP2 | c.26T>C (p.Val9Ala)
| dbSNP |
| X | g.120469144A>T | CA414397983 | LAMP2 | c.26T>A (p.Val9Asp)
| |
| X | g.120469145C>A | CA414397988 | LAMP2 | c.25G>T (p.Val9Phe)
| gnomAD v4 |
| X | g.120469145C= | CA2454879192 | LAMP2 | c.25G= (p.Val9=)
| |
| X | g.120469145C>G | CA414397990 | LAMP2 | c.25G>C (p.Val9Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.120469145C>T | CA414397992 | LAMP2 | c.25G>A (p.Val9Ile)
| |
| X | g.120469146C>A | CA518411750 | LAMP2 | c.24G>T (p.Pro8=)
| |
| X | g.120469146C= | CA2454879193 | LAMP2 | c.24G= (p.Pro8=)
| |
| X | g.120469146C>G | CA518411751 | LAMP2 | c.24G>C (p.Pro8=)
| |
| X | g.120469146C>T | CA518411754 | LAMP2 | c.24G>A (p.Pro8=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469147G>A | CA10583929 | LAMP2 | c.23C>T (p.Pro8Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120469147G>C | CA414398000 | LAMP2 | c.23C>G (p.Pro8Arg)
| ClinVar dbSNP |
| X | g.120469147G= | CA2454879194 | LAMP2 | c.23C= (p.Pro8=)
| |
| X | g.120469147G>T | CA414398004 | LAMP2 | c.23C>A (p.Pro8Gln)
| |
| X | g.120469148G>A | CA414398015 | LAMP2 | c.22C>T (p.Pro8Ser)
| |
| X | g.120469148G>C | CA414398018 | LAMP2 | c.22C>G (p.Pro8Ala)
| |
| X | g.120469148G>T | CA414398010 | LAMP2 | c.22C>A (p.Pro8Thr)
| |
| X | g.120469149G>A | CA518411762 | LAMP2 | c.21C>T (p.Phe7=)
| COSMIC COSMIC COSMIC |
| X | g.120469149G>C | CA414398021 | LAMP2 | c.21C>G (p.Phe7Leu)
| |
| X | g.120469149G= | CA2454879195 | LAMP2 | c.21C= (p.Phe7=)
| |
| X | g.120469149G>T | CA414398025 | LAMP2 | c.21C>A (p.Phe7Leu)
| ClinVar dbSNP |
| X | g.120469150A>C | CA414398026 | LAMP2 | c.20T>G (p.Phe7Cys)
| |
| X | g.120469150A>G | CA414398027 | LAMP2 | c.20T>C (p.Phe7Ser)
| |
| X | g.120469150A>T | CA414398030 | LAMP2 | c.20T>A (p.Phe7Tyr)
| |
| X | g.120469151A>C | CA414398039 | LAMP2 | c.19T>G (p.Phe7Val)
| |
| X | g.120469151A>G | CA414398038 | LAMP2 | c.19T>C (p.Phe7Leu)
| |
| X | g.120469151A>T | CA414398037 | LAMP2 | c.19T>A (p.Phe7Ile)
| |
| X | g.120469152G>A | CA518411775 | LAMP2 | c.18C>T (p.Leu6=)
| |
| X | g.120469152G>C | CA518411777 | LAMP2 | c.18C>G (p.Leu6=)
| |
| X | g.120469152G>T | CA518411779 | LAMP2 | c.18C>A (p.Leu6=)
| |
| X | g.120469153A>C | CA414398041 | LAMP2 | c.17T>G (p.Leu6Arg)
| |
| X | g.120469153A>G | CA414398042 | LAMP2 | c.17T>C (p.Leu6Pro)
| |
| X | g.120469153A>T | CA414398044 | LAMP2 | c.17T>A (p.Leu6His)
| |
| X | g.120469154G>A | CA414398047 | LAMP2 | c.16C>T (p.Leu6Phe)
| gnomAD v4 |
| X | g.120469154G>C | CA414398051 | LAMP2 | c.16C>G (p.Leu6Val)
| |
| X | g.120469154G>T | CA414398054 | LAMP2 | c.16C>A (p.Leu6Ile)
| |
| X | g.120469155G>A | CA518411789 | LAMP2 | c.15C>T (p.Arg5=)
| |
| X | g.120469155G>C | CA518411791 | LAMP2 | c.15C>G (p.Arg5=)
| |
| X | g.120469155G>T | CA518411792 | LAMP2 | c.15C>A (p.Arg5=)
| |
| X | g.120469155_120469156delinsGC | CA2454879196 | LAMP2 | c.14_15delinsGC (p.Arg5=)
| |
| X | g.120469156del | CA870743227 | LAMP2 | c.14del (p.Arg5ProfsTer15)
| ClinVar dbSNP |
| X | g.120469156C>A | CA414398058 | LAMP2 | c.14G>T (p.Arg5Leu)
| ClinVar dbSNP |
| X | g.120469156C= | CA2454879197 | LAMP2 | c.14G= (p.Arg5=)
| |
| X | g.120469156C>G | CA414398064 | LAMP2 | c.14G>C (p.Arg5Pro)
| |
| X | g.120469156C>T | CA414398061 | LAMP2 | c.14G>A (p.Arg5His)
| dbSNP |
| X | g.120469157G>A | CA414398067 | LAMP2 | c.13C>T (p.Arg5Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.120469157G>C | CA414398069 | LAMP2 | c.13C>G (p.Arg5Gly)
| |
| X | g.120469157G>T | CA414398071 | LAMP2 | c.13C>A (p.Arg5Ser)
| |
| X | g.120469158G>A | CA518411803 | LAMP2 | c.12C>T (p.Phe4=)
| ClinVar |
| X | g.120469158G>C | CA414398075 | LAMP2 | c.12C>G (p.Phe4Leu)
| |
| X | g.120469158G>T | CA414398077 | LAMP2 | c.12C>A (p.Phe4Leu)
| |
| X | g.120469159A>C | CA414398082 | LAMP2 | c.11T>G (p.Phe4Cys)
| |
| X | g.120469159A>G | CA414398084 | LAMP2 | c.11T>C (p.Phe4Ser)
| |
| X | g.120469159A>T | CA414398086 | LAMP2 | c.11T>A (p.Phe4Tyr)
| |
| X | g.120469160A= | CA2454879198 | LAMP2 | c.10T= (p.Phe4=)
| |
| X | g.120469160A>C | CA414398091 | LAMP2 | c.10T>G (p.Phe4Val)
| |
| X | g.120469160A>G | CA414398094 | LAMP2 | c.10T>C (p.Phe4Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469160A>T | CA414398096 | LAMP2 | c.10T>A (p.Phe4Ile)
| |
| X | g.120469161G>A | CA10505376 | LAMP2 | c.9C>T (p.Cys3=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469161G>C | CA414398099 | LAMP2 | c.9C>G (p.Cys3Trp)
| |
| X | g.120469161G= | CA2454879199 | LAMP2 | c.9C= (p.Cys3=)
| |
| X | g.120469161G>T | CA414398102 | LAMP2 | c.9C>A (p.Cys3Ter)
| |
| X | g.120469162C>A | CA414398109 | LAMP2 | c.8G>T (p.Cys3Phe)
| |
| X | g.120469162C= | CA2454879200 | LAMP2 | c.8G= (p.Cys3=)
| |
| X | g.120469162C>G | CA335014954 | LAMP2 | c.8G>C (p.Cys3Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469162C>T | CA333700 | LAMP2 | c.8G>A (p.Cys3Tyr)
| ClinVar dbSNP |
| X | g.120469163A>C | CA414398117 | LAMP2 | c.7T>G (p.Cys3Gly)
| |
| X | g.120469163A>G | CA414398119 | LAMP2 | c.7T>C (p.Cys3Arg)
| |
| X | g.120469163A>T | CA414398121 | LAMP2 | c.7T>A (p.Cys3Ser)
| |
| X | g.120469164C>A | CA518411829 | LAMP2 | c.6G>T (p.Val2=)
| |
| X | g.120469164C>G | CA518411831 | LAMP2 | c.6G>C (p.Val2=)
| |
| X | g.120469164C>T | CA518411832 | LAMP2 | c.6G>A (p.Val2=)
| ClinVar dbSNP |
| X | g.120469165A>C | CA414398124 | LAMP2 | c.5T>G (p.Val2Gly)
| |
| X | g.120469165A>G | CA414398127 | LAMP2 | c.5T>C (p.Val2Ala)
| |
| X | g.120469165A>T | CA414398130 | LAMP2 | c.5T>A (p.Val2Glu)
| |
| X | g.120469166C>A | CA414398133 | LAMP2 | c.4G>T (p.Val2Leu)
| |
| X | g.120469166C>G | CA414398136 | LAMP2 | c.4G>C (p.Val2Leu)
| |
| X | g.120469166C>T | CA414398139 | LAMP2 | c.4G>A (p.Val2Met)
| |
| X | g.120469167C>A | CA414398148 | LAMP2 | c.3G>T (p.Met1Ile)
| |
| X | g.120469167C>G | CA414398145 | LAMP2 | c.3G>C (p.Met1Ile)
| |
| X | g.120469167C>T | CA414398143 | LAMP2 | c.3G>A (p.Met1Ile)
| ClinVar dbSNP |
| X | g.120469168A>C | CA414398154 | LAMP2 | c.2T>G (p.Met1Arg)
| |
| X | g.120469168A>G | CA414398157 | LAMP2 | c.2T>C (p.Met1Thr)
| ClinVar |
| X | g.120469168A>T | CA414398160 | LAMP2 | c.2T>A (p.Met1Lys)
| |
| X | g.120469169T>A | CA414398164 | LAMP2 | c.1A>T (p.Met1Leu)
| ClinVar dbSNP |
| X | g.120469169T>C | CA414398166 | LAMP2 | c.1A>G (p.Met1Val)
| |
| X | g.120469169T>G | CA414398169 | LAMP2 | c.1A>C (p.Met1Leu)
| ClinVar dbSNP |
| X | g.120469169T= | CA2454879201 | LAMP2 | c.1A= (p.Met1=)
| |
| X | g.120469170G>A | CA644135661 | LAMP2 | c.-1C>T (n.-1C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469170G>C | CA10505377 | LAMP2 | c.-1C>G (n.-1C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469170G= | CA2454879202 | LAMP2 | c.-1C= (n.-1C=)
| |
| X | g.120469171A>G | CA2694598820 | LAMP2 | c.-2T>C (n.-2T>C)
| gnomAD v4 |
| X | g.120469172C= | CA2454879203 | LAMP2 | c.-3G= (n.-3G=)
| |
| X | g.120469172C>T | CA644135662 | LAMP2 | c.-3G>A (n.-3G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469175dup | CA2694598821 | LAMP2 | c.-3dup (n.-3dup)
| gnomAD v4 |
| X | g.120469173C>A | CA2454879205 | LAMP2 | c.-4G>T (n.-4G>T)
| dbSNP gnomAD v4 |
| X | g.120469173C= | CA2454879204 | LAMP2 | c.-4G= (n.-4G=)
| |
| X | g.120469173C>G | CA134063 | LAMP2 | c.-4G>C (n.-4G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469173C>T | CA134062 | LAMP2 | c.-4G>A (n.-4G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469174C>T | CA2694598822 | LAMP2 | c.-5G>A (n.-5G>A)
| gnomAD v4 |
| X | g.120469176G>A | CA10505378 | LAMP2 | c.-7C>T (n.-7C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469176G= | CA2454879206 | LAMP2 | c.-7C= (n.-7C=)
| |
| X | g.120469177C= | CA2454879207 | LAMP2 | c.-8G= (n.-8G=)
| |
| X | g.120469177C>G | CA10505379 | LAMP2 | c.-8G>C (n.-8G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469179G>A | CA333112 | LAMP2 | c.-10C>T (n.-10C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469179G= | CA2454879208 | LAMP2 | c.-10C= (n.-10C=)
| |
| X | g.120469180A= | CA2454879209 | LAMP2 | c.-11T= (n.-11T=)
| |
| X | g.120469180A>C | CA644135663 | LAMP2 | c.-11T>G (n.-11T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469182C= | CA2454879210 | LAMP2 | c.-13G= (n.-13G=)
| |
| X | g.120469182C>G | CA644135664 | LAMP2 | c.-13G>C (n.-13G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469182C>T | CA2579692289 | LAMP2 | c.-13G>A (n.-13G>A)
| |
| X | g.120469183A= | CA2454879212 | LAMP2 | c.-14T= (n.-14T=)
| |
| X | g.120469183_120469192delinsAGGCGGCGAC | CA2454879211 | LAMP2 | c.-23_-14delinsGTCGCCGCCT (n.-23_-14delinsGTCGCCGCCT)
| |
| X | g.120469184G>A | CA335014955 | LAMP2 | c.-15C>T (n.-15C>T)
| dbSNP gnomAD v4 |
| X | g.120469184G= | CA2454879214 | LAMP2 | c.-15C= (n.-15C=)
| |
| X | g.120469184_120469192delinsGGCGGCGAC | CA2454879213 | LAMP2 | c.-23_-15delinsGTCGCCGCC (n.-23_-15delinsGTCGCCGCC)
| |
| X | g.120469188_120469199dup | CA333714 | LAMP2 | c.-26_-15dup (n.-26_-15dup)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469200_120469208dup | CA10505380 | LAMP2 | c.-23_-15dup (n.-23_-15dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469200_120469208del | CA134061 | LAMP2 | c.-23_-15del (n.-23_-15del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120469186_120469193del | CA658824944 | LAMP2 | c.-23_-16del (n.-23_-16del)
| ClinVar dbSNP |
| X | g.120469186C>T | CA2694598823 | LAMP2 | c.-17G>A (n.-17G>A)
| gnomAD v4 |
| X | g.120469187G>A | CA10505381 | LAMP2 | c.-18C>T (n.-18C>T)
| dbSNP ExAC gnomAD v2 |
| X | g.120469187G>C | CA644135665 | LAMP2 | c.-18C>G (n.-18C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469187G= | CA2454879215 | LAMP2 | c.-18C= (n.-18C=)
| |
| X | g.120469188G>A | CA2694598824 | LAMP2 | c.-19C>T (n.-19C>T)
| gnomAD v4 |
| X | g.120469189C= | CA2454879216 | LAMP2 | c.-20G= (n.-20G=)
| |
| X | g.120469189C>T | CA10505382 | LAMP2 | c.-20G>A (n.-20G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469191A= | CA2454879217 | LAMP2 | c.-22T= (n.-22T=)
| |
| X | g.120469191A>G | CA2454879218 | LAMP2 | c.-22T>C (n.-22T>C)
| dbSNP gnomAD v4 |
| X | g.120469192C>A | CA2454879220 | LAMP2 | c.-23G>T (n.-23G>T)
| dbSNP |
| X | g.120469192C= | CA2454879219 | LAMP2 | c.-23G= (n.-23G=)
| |
| X | g.120469197_120469199dup | CA2694598825 | LAMP2 | c.-25_-23dup (n.-25_-23dup)
| gnomAD v4 |
| X | g.120469195C>T | CA2694598827 | LAMP2 | c.-26G>A (n.-26G>A)
| gnomAD v4 |
| X | g.120469200_120469205dup | CA2694598826 | LAMP2 | c.-31_-26dup (n.-31_-26dup)
| gnomAD v4 |
| X | g.120469196G>A | CA333111 | LAMP2 | c.-27C>T (n.-27C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469196G>C | CA2454879222 | LAMP2 | c.-27C>G (n.-27C>G)
| dbSNP |
| X | g.120469196G= | CA2454879221 | LAMP2 | c.-27C= (n.-27C=)
| |
| X | g.120469197G>A | CA2739015249 | LAMP2 | c.-28C>T (n.-28C>T)
| dbSNP |
| X | g.120469199G>A | CA644135666 | LAMP2 | c.-30C>T (n.-30C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469199G>C | CA2694598828 | LAMP2 | c.-30C>G (n.-30C>G)
| gnomAD v4 |
| X | g.120469199G= | CA2454879223 | LAMP2 | c.-30C= (n.-30C=)
| |
| X | g.120469200A= | CA2454879224 | LAMP2 | c.-31T= (n.-31T=)
| |
| X | g.120469200A>G | CA2454879225 | LAMP2 | c.-31T>C (n.-31T>C)
| dbSNP gnomAD v4 |
| X | g.120469201C>T | CA2579692290 | LAMP2 | c.-32G>A (n.-32G>A)
| |
| X | g.120469201_120469202insT | CA658475719 | LAMP2 | c.-33_-32insA (n.-33_-32insA)
| COSMIC |
| X | g.120469202G>A | CA333110 | LAMP2 | c.-33C>T (n.-33C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469202G= | CA2454879226 | LAMP2 | c.-33C= (n.-33C=)
| |
| X | g.120469202G>T | CA2694598830 | LAMP2 | c.-33C>A (n.-33C>A)
| gnomAD v4 |
| X | g.120469202_120469210del | CA2694598829 | LAMP2 | c.-41_-33del (n.-41_-33del)
| gnomAD v4 |
| X | g.120469205G>A | CA2579692291 | LAMP2 | c.-36C>T (n.-36C>T)
| gnomAD v4 |
| X | g.120469205G>C | CA2694598831 | LAMP2 | c.-36C>G (n.-36C>G)
| gnomAD v4 |
| X | g.120469206G>T | CA2694598832 | LAMP2 | c.-37C>A (n.-37C>A)
| gnomAD v4 |
| X | g.120469207C= | CA2454879227 | LAMP2 | c.-38G= (n.-38G=)
| |
| X | g.120469207C>G | CA658799854 | LAMP2 | c.-38G>C (n.-38G>C)
| ClinVar dbSNP gnomAD v4 |
| X | g.120469207C>T | CA870743362 | LAMP2 | c.-38G>A (n.-38G>A)
| dbSNP |
| X | g.120469208G>A | CA10505383 | LAMP2 | c.-39C>T (n.-39C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469208G= | CA2454879228 | LAMP2 | c.-39C= (n.-39C=)
| |
| X | g.120469209G>T | CA2694598833 | LAMP2 | c.-40C>A (n.-40C>A)
| gnomAD v4 |
| X | g.120469210T>G | CA2739015254 | LAMP2 | c.-41A>C (n.-41A>C)
| dbSNP |
| X | g.120469210_120469213delinsTACA | CA2454879229 | LAMP2 | c.-44_-41delinsTGTA (n.-44_-41delinsTGTA)
| |
| X | g.120469211A= | CA2454879230 | LAMP2 | c.-42T= (n.-42T=)
| |
| X | g.120469211A>G | CA870743376 | LAMP2 | c.-42T>C (n.-42T>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469217_120469219del | CA644135667 | LAMP2 | c.-44_-42del (n.-44_-42del)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469212del | CA2739015265 | LAMP2 | c.-43del (n.-43del)
| dbSNP |
| X | g.120469212C>A | CA2499226343 | LAMP2 | c.-43G>T (n.-43G>T)
| ClinVar dbSNP |
