Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.10612811_10612836dupCA580030540RP1L1c.1266_1291dup (p.His431LeufsTer?)
dbSNP gnomAD v2 gnomAD v4
8g.10612812G>ACA370295806RP1L1c.1286C>T (p.Ala429Val)
dbSNP
8g.10612812G>CCA370295807RP1L1c.1286C>G (p.Ala429Gly)
8g.10612812G=CA1763379056RP1L1c.1286C= (p.Ala429=)
8g.10612812G>TCA4625238RP1L1c.1286C>A (p.Ala429Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612813C>ACA370295808RP1L1c.1285G>T (p.Ala429Ser)
gnomAD v4
8g.10612813C>GCA370295810RP1L1c.1285G>C (p.Ala429Pro)
8g.10612813C>TCA370295809RP1L1c.1285G>A (p.Ala429Thr)
gnomAD v4 COSMIC
8g.10612814C>ACA459619954RP1L1c.1284G>T (p.Leu428=)
8g.10612814C=CA1763379058RP1L1c.1284G= (p.Leu428=)
8g.10612814C>GCA459619955RP1L1c.1284G>C (p.Leu428=)
8g.10612814C>TCA459619956RP1L1c.1284G>A (p.Leu428=)
dbSNP gnomAD v2
8g.10612815A>CCA370295811RP1L1c.1283T>G (p.Leu428Arg)
8g.10612815A>GCA370295812RP1L1c.1283T>C (p.Leu428Pro)
8g.10612815A>TCA370295813RP1L1c.1283T>A (p.Leu428Gln)
8g.10612816G>ACA459619958RP1L1c.1282C>T (p.Leu428=)
dbSNP gnomAD v4
8g.10612816G>CCA370295814RP1L1c.1282C>G (p.Leu428Val)
gnomAD v4
8g.10612816G=CA1763379059RP1L1c.1282C= (p.Leu428=)
8g.10612816G>TCA370295815RP1L1c.1282C>A (p.Leu428Met)
gnomAD v4
8g.10612817T>ACA459619962RP1L1c.1281A>T (p.Gly427=)
gnomAD v4
8g.10612817T>CCA459619963RP1L1c.1281A>G (p.Gly427=)
8g.10612817T>GCA459619961RP1L1c.1281A>C (p.Gly427=)
8g.10612818C>ACA370295816RP1L1c.1280G>T (p.Gly427Val)
dbSNP gnomAD v3 gnomAD v4
8g.10612818C=CA1763379061RP1L1c.1280G= (p.Gly427=)
8g.10612818C>GCA370295817RP1L1c.1280G>C (p.Gly427Ala)
8g.10612818C>TCA370295818RP1L1c.1280G>A (p.Gly427Glu)
8g.10612819C>ACA370295819RP1L1c.1279G>T (p.Gly427Ter)
8g.10612819C>GCA370295820RP1L1c.1279G>C (p.Gly427Arg)
8g.10612819C>TCA370295821RP1L1c.1279G>A (p.Gly427Arg)
gnomAD v4
8g.10612820C>ACA370295822RP1L1c.1278G>T (p.Trp426Cys)
8g.10612820C=CA1763379062RP1L1c.1278G= (p.Trp426=)
8g.10612820C>GCA370295824RP1L1c.1278G>C (p.Trp426Cys)
dbSNP gnomAD v3 gnomAD v4
8g.10612820C>TCA370295823RP1L1c.1278G>A (p.Trp426Ter)
COSMIC
8g.10612821C>ACA370295825RP1L1c.1277G>T (p.Trp426Leu)
8g.10612821C>GCA370295826RP1L1c.1277G>C (p.Trp426Ser)
gnomAD v4
8g.10612821C>TCA370295827RP1L1c.1277G>A (p.Trp426Ter)
8g.10612822A>CCA370295828RP1L1c.1276T>G (p.Trp426Gly)
gnomAD v4
8g.10612822A>GCA370295829RP1L1c.1276T>C (p.Trp426Arg)
8g.10612822A>TCA370295830RP1L1c.1276T>A (p.Trp426Arg)
8g.10612823C>ACA4625239RP1L1c.1275G>T (p.Arg425Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612823C=CA1763379064RP1L1c.1275G= (p.Arg425=)
8g.10612823C>GCA370295831RP1L1c.1275G>C (p.Arg425Ser)
8g.10612823C>TCA459619969RP1L1c.1275G>A (p.Arg425=)
8g.10612824C>ACA370295832RP1L1c.1274G>T (p.Arg425Met)
8g.10612824C=CA1763379066RP1L1c.1274G= (p.Arg425=)
8g.10612824C>GCA370295833RP1L1c.1274G>C (p.Arg425Thr)
dbSNP gnomAD v4
8g.10612824C>TCA370295834RP1L1c.1274G>A (p.Arg425Lys)
dbSNP gnomAD v2 gnomAD v4
8g.10612825T>ACA370295835RP1L1c.1273A>T (p.Arg425Trp)
gnomAD v4
8g.10612825T>CCA370295836RP1L1c.1273A>G (p.Arg425Gly)
8g.10612825T>GCA4625240RP1L1c.1273A>C (p.Arg425=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612825T=CA1763379069RP1L1c.1273A= (p.Arg425=)
8g.10612826C>ACA370295838RP1L1c.1272G>T (p.Lys424Asn)
gnomAD v4
8g.10612826C=CA1763379071RP1L1c.1272G= (p.Lys424=)
8g.10612826C>GCA370295837RP1L1c.1272G>C (p.Lys424Asn)
dbSNP
8g.10612826C>TCA459619978RP1L1c.1272G>A (p.Lys424=)
8g.10612827T>ACA370295839RP1L1c.1271A>T (p.Lys424Met)
8g.10612827T>CCA4625241RP1L1c.1271A>G (p.Lys424Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612827T>GCA370295840RP1L1c.1271A>C (p.Lys424Thr)
8g.10612827T=CA1763379073RP1L1c.1271A= (p.Lys424=)
8g.10612828T>ACA4625242RP1L1c.1270A>T (p.Lys424Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612828T>CCA370295841RP1L1c.1270A>G (p.Lys424Glu)
8g.10612828T>GCA370295842RP1L1c.1270A>C (p.Lys424Gln)
8g.10612828T=CA1763379075RP1L1c.1270A= (p.Lys424=)
8g.10612829C>ACA459619984RP1L1c.1269G>T (p.Arg423=)
COSMIC
8g.10612829C=CA1763379077RP1L1c.1269G= (p.Arg423=)
8g.10612829C>GCA459619985RP1L1c.1269G>C (p.Arg423=)
8g.10612829C>TCA459619986RP1L1c.1269G>A (p.Arg423=)
dbSNP gnomAD v4
8g.10612830C>ACA370295843RP1L1c.1268G>T (p.Arg423Leu)
dbSNP gnomAD v2 gnomAD v4
8g.10612830C=CA1763379080RP1L1c.1268G= (p.Arg423=)
8g.10612830C>GCA4625244RP1L1c.1268G>C (p.Arg423Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612830C>TCA4625243RP1L1c.1268G>A (p.Arg423Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10612831G>ACA4625245RP1L1c.1267C>T (p.Arg423Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10612831G>CCA370295844RP1L1c.1267C>G (p.Arg423Gly)
8g.10612831G=CA1763379084RP1L1c.1267C= (p.Arg423=)
8g.10612831G>TCA459619988RP1L1c.1267C>A (p.Arg423=)
8g.10612832A>CCA459619992RP1L1c.1266T>G (p.Ala422=)
8g.10612832A>GCA459619994RP1L1c.1266T>C (p.Ala422=)
8g.10612832A>TCA459619995RP1L1c.1266T>A (p.Ala422=)
8g.10612833G>ACA370295845RP1L1c.1265C>T (p.Ala422Val)
dbSNP gnomAD v4
8g.10612833G>CCA370295846RP1L1c.1265C>G (p.Ala422Gly)
8g.10612833G=CA1763379085RP1L1c.1265C= (p.Ala422=)
8g.10612833G>TCA370295847RP1L1c.1265C>A (p.Ala422Asp)
gnomAD v4
8g.10612834C>ACA370295848RP1L1c.1264G>T (p.Ala422Ser)
8g.10612834C>GCA370295850RP1L1c.1264G>C (p.Ala422Pro)
8g.10612834C>TCA370295849RP1L1c.1264G>A (p.Ala422Thr)
8g.10612835T>ACA459619998RP1L1c.1263A>T (p.Ala421=)
8g.10612835T>CCA459620000RP1L1c.1263A>G (p.Ala421=)
8g.10612835T>GCA459620002RP1L1c.1263A>C (p.Ala421=)
8g.10612836G>ACA370295851RP1L1c.1262C>T (p.Ala421Val)
dbSNP gnomAD v2 gnomAD v4
8g.10612836G>CCA370295852RP1L1c.1262C>G (p.Ala421Gly)
8g.10612836G=CA1763379087RP1L1c.1262C= (p.Ala421=)
8g.10612836G>TCA370295853RP1L1c.1262C>A (p.Ala421Glu)
gnomAD v4
8g.10612837C>ACA370295854RP1L1c.1261G>T (p.Ala421Ser)
gnomAD v4
8g.10612837C=CA1763379090RP1L1c.1261G= (p.Ala421=)
8g.10612837C>GCA370295855RP1L1c.1261G>C (p.Ala421Pro)
8g.10612837C>TCA370295856RP1L1c.1261G>A (p.Ala421Thr)
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.10612837_10612839delinsCCACA1763379089RP1L1c.1259_1261delinsTGG (p.Val420=)
8g.10612838C>ACA459620008RP1L1c.1260G>T (p.Val420=)
8g.10612838C=CA1763379092RP1L1c.1260G= (p.Val420=)
8g.10612838C>GCA459620009RP1L1c.1260G>C (p.Val420=)
8g.10612838C>TCA459620010RP1L1c.1260G>A (p.Val420=)
dbSNP gnomAD v4
8g.10612839_10612840delCA845125713RP1L1c.1259_1260del (p.Val420GlyfsTer?)
dbSNP gnomAD v4
8g.10612839A>CCA370295857RP1L1c.1259T>G (p.Val420Gly)
8g.10612839A>GCA370295858RP1L1c.1259T>C (p.Val420Ala)
8g.10612839A>TCA370295859RP1L1c.1259T>A (p.Val420Glu)
gnomAD v4
8g.10612839_10612841delinsACTCA1763379094RP1L1c.1257_1259delinsAGT (p.Arg419=)
8g.10612840C>ACA370295860RP1L1c.1258G>T (p.Val420Leu)
8g.10612840C=CA1763379099RP1L1c.1258G= (p.Val420=)
8g.10612840C>GCA370295861RP1L1c.1258G>C (p.Val420Leu)
dbSNP gnomAD v2 gnomAD v4
8g.10612840C>TCA370295862RP1L1c.1258G>A (p.Val420Met)
gnomAD v4
8g.10612847_10612848dupCA4625246RP1L1c.1257_1258dup (p.Val420GlufsTer?)
ClinVar dbSNP ExAC gnomAD v2
8g.10612847_10612848delCA645559067RP1L1c.1257_1258del (p.Arg419SerfsTer?)
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.10612841T>ACA370295863RP1L1c.1257A>T (p.Arg419Ser)
8g.10612841T>CCA459620017RP1L1c.1257A>G (p.Arg419=)
dbSNP gnomAD v4
8g.10612841T>GCA370295864RP1L1c.1257A>C (p.Arg419Ser)
8g.10612841T=CA1763379101RP1L1c.1257A= (p.Arg419=)
8g.10612842C>ACA370295865RP1L1c.1256G>T (p.Arg419Ile)
gnomAD v4
8g.10612842C=CA1763379103RP1L1c.1256G= (p.Arg419=)
8g.10612842C>GCA370295866RP1L1c.1256G>C (p.Arg419Thr)
dbSNP gnomAD v3 gnomAD v4
8g.10612842C>TCA370295867RP1L1c.1256G>A (p.Arg419Lys)
gnomAD v4
8g.10612843T>ACA370295868RP1L1c.1255A>T (p.Arg419Ter)
8g.10612843T>CCA370295869RP1L1c.1255A>G (p.Arg419Gly)
gnomAD v4
8g.10612843T>GCA459620022RP1L1c.1255A>C (p.Arg419=)
8g.10612844C>ACA370295870RP1L1c.1254G>T (p.Glu418Asp)
8g.10612844C=CA1763379104RP1L1c.1254G= (p.Glu418=)
8g.10612844C>GCA370295871RP1L1c.1254G>C (p.Glu418Asp)
gnomAD v4
8g.10612844C>TCA4625247RP1L1c.1254G>A (p.Glu418=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612845T>ACA370295872RP1L1c.1253A>T (p.Glu418Val)
8g.10612845T>CCA370295873RP1L1c.1253A>G (p.Glu418Gly)
8g.10612845T>GCA370295874RP1L1c.1253A>C (p.Glu418Ala)
8g.10612846C>ACA370295877RP1L1c.1252G>T (p.Glu418Ter)
8g.10612846C=CA1763379106RP1L1c.1252G= (p.Glu418=)
8g.10612846C>GCA370295876RP1L1c.1252G>C (p.Glu418Gln)
8g.10612846C>TCA370295875RP1L1c.1252G>A (p.Glu418Lys)
dbSNP gnomAD v2 gnomAD v4
8g.10612847T>ACA4625248RP1L1c.1251A>T (p.Gly417=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612847T>CCA459620026RP1L1c.1251A>G (p.Gly417=)
8g.10612847T>GCA459620029RP1L1c.1251A>C (p.Gly417=)
8g.10612847T=CA1763379108RP1L1c.1251A= (p.Gly417=)
8g.10612848C>ACA4625249RP1L1c.1250G>T (p.Gly417Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612848C=CA1763379110RP1L1c.1250G= (p.Gly417=)
8g.10612848C>GCA370295878RP1L1c.1250G>C (p.Gly417Ala)
gnomAD v4
8g.10612848C>TCA370295879RP1L1c.1250G>A (p.Gly417Glu)
8g.10612849C>ACA370295880RP1L1c.1249G>T (p.Gly417Ter)
8g.10612849C=CA1763379112RP1L1c.1249G= (p.Gly417=)
8g.10612849C>GCA370295881RP1L1c.1249G>C (p.Gly417Arg)
8g.10612849C>TCA4625250RP1L1c.1249G>A (p.Gly417Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612850C>ACA370295882RP1L1c.1248G>T (p.Gln416His)
8g.10612850C=CA1763379114RP1L1c.1248G= (p.Gln416=)
8g.10612850C>GCA370295883RP1L1c.1248G>C (p.Gln416His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10612850C>TCA459620038RP1L1c.1248G>A (p.Gln416=)
gnomAD v4
8g.10612851T>ACA370295884RP1L1c.1247A>T (p.Gln416Leu)
8g.10612851T>CCA370295885RP1L1c.1247A>G (p.Gln416Arg)
dbSNP gnomAD v3 gnomAD v4
8g.10612851T>GCA370295886RP1L1c.1247A>C (p.Gln416Pro)
8g.10612851T=CA1763379116RP1L1c.1247A= (p.Gln416=)
8g.10612852G>ACA370295887RP1L1c.1246C>T (p.Gln416Ter)
dbSNP gnomAD v2 gnomAD v4
8g.10612852G>CCA370295888RP1L1c.1246C>G (p.Gln416Glu)
8g.10612852G=CA1763379118RP1L1c.1246C= (p.Gln416=)
8g.10612852G>TCA370295889RP1L1c.1246C>A (p.Gln416Lys)
gnomAD v4
8g.10612853G>ACA459620043RP1L1c.1245C>T (p.Ser415=)
gnomAD v4
8g.10612853G>CCA459620044RP1L1c.1245C>G (p.Ser415=)
8g.10612853G>TCA459620046RP1L1c.1245C>A (p.Ser415=)
gnomAD v4
8g.10612854G>ACA370295891RP1L1c.1244C>T (p.Ser415Phe)
dbSNP gnomAD v4
8g.10612854G>CCA4625251RP1L1c.1244C>G (p.Ser415Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612854G=CA1763379119RP1L1c.1244C= (p.Ser415=)
8g.10612854G>TCA370295890RP1L1c.1244C>A (p.Ser415Tyr)
8g.10612855A=CA1763379121RP1L1c.1243T= (p.Ser415=)
8g.10612855A>CCA370295892RP1L1c.1243T>G (p.Ser415Ala)
dbSNP
8g.10612855A>GCA370295893RP1L1c.1243T>C (p.Ser415Pro)
8g.10612855A>TCA370295894RP1L1c.1243T>A (p.Ser415Thr)
8g.10612856G>ACA4625252RP1L1c.1242C>T (p.Ala414=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612856G>CCA171947806RP1L1c.1242C>G (p.Ala414=)
dbSNP
8g.10612856G=CA1763379123RP1L1c.1242C= (p.Ala414=)
8g.10612856G>TCA459620053RP1L1c.1242C>A (p.Ala414=)
8g.10612857G>ACA370295895RP1L1c.1241C>T (p.Ala414Val)
gnomAD v4
8g.10612857G>CCA370295897RP1L1c.1241C>G (p.Ala414Gly)
8g.10612857G>TCA370295896RP1L1c.1241C>A (p.Ala414Asp)
gnomAD v4
8g.10612858C>ACA370295898RP1L1c.1240G>T (p.Ala414Ser)
8g.10612858C=CA1763379126RP1L1c.1240G= (p.Ala414=)
8g.10612858C>GCA370295899RP1L1c.1240G>C (p.Ala414Pro)
8g.10612858C>TCA370295900RP1L1c.1240G>A (p.Ala414Thr)
dbSNP gnomAD v2 gnomAD v4
8g.10612859A=CA1763379127RP1L1c.1239T= (p.His413=)
8g.10612859A>CCA370295901RP1L1c.1239T>G (p.His413Gln)
dbSNP gnomAD v3 gnomAD v4
8g.10612859A>GCA459620058RP1L1c.1239T>C (p.His413=)
gnomAD v4
8g.10612859A>TCA370295902RP1L1c.1239T>A (p.His413Gln)
8g.10612860T>ACA4625253RP1L1c.1238A>T (p.His413Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612860T>CCA370295903RP1L1c.1238A>G (p.His413Arg)
8g.10612860T>GCA370295904RP1L1c.1238A>C (p.His413Pro)
8g.10612860T=CA1763379129RP1L1c.1238A= (p.His413=)
8g.10612861G>ACA370295905RP1L1c.1237C>T (p.His413Tyr)
gnomAD v4
8g.10612861G>CCA370295906RP1L1c.1237C>G (p.His413Asp)
8g.10612861G=CA1763379131RP1L1c.1237C= (p.His413=)
8g.10612861G>TCA370295907RP1L1c.1237C>A (p.His413Asn)
dbSNP gnomAD v2 gnomAD v4
8g.10612862C>ACA459620062RP1L1c.1236G>T (p.Leu412=)
8g.10612862C>GCA459620063RP1L1c.1236G>C (p.Leu412=)
8g.10612862C>TCA459620065RP1L1c.1236G>A (p.Leu412=)
8g.10612863A>CCA370295908RP1L1c.1235T>G (p.Leu412Arg)
8g.10612863A>GCA370295910RP1L1c.1235T>C (p.Leu412Pro)
8g.10612863A>TCA370295909RP1L1c.1235T>A (p.Leu412Gln)
gnomAD v4
8g.10612864G>ACA459620070RP1L1c.1234C>T (p.Leu412=)
gnomAD v4
8g.10612864G>CCA370295911RP1L1c.1234C>G (p.Leu412Val)
8g.10612864G=CA1763379132RP1L1c.1234C= (p.Leu412=)
8g.10612864G>TCA370295912RP1L1c.1234C>A (p.Leu412Met)
dbSNP gnomAD v2 gnomAD v4
8g.10612867dupCA2579091974RP1L1c.1234dup (p.Leu412ProfsTer?)
8g.10612865G>ACA459620072RP1L1c.1233C>T (p.Pro411=)
8g.10612865G>CCA459620073RP1L1c.1233C>G (p.Pro411=)
8g.10612865G>TCA459620074RP1L1c.1233C>A (p.Pro411=)
8g.10612866G>ACA370295913RP1L1c.1232C>T (p.Pro411Leu)
8g.10612866G>CCA370295914RP1L1c.1232C>G (p.Pro411Arg)
gnomAD v4
8g.10612866G>TCA370295915RP1L1c.1232C>A (p.Pro411His)
8g.10612867G>ACA370295916RP1L1c.1231C>T (p.Pro411Ser)
ClinVar dbSNP gnomAD v4
8g.10612867G>CCA370295917RP1L1c.1231C>G (p.Pro411Ala)
dbSNP
8g.10612867G=CA1763379134RP1L1c.1231C= (p.Pro411=)
8g.10612867G>TCA4625254RP1L1c.1231C>A (p.Pro411Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612868A=CA1763379137RP1L1c.1230T= (p.Asn410=)
8g.10612868A>CCA4625256RP1L1c.1230T>G (p.Asn410Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612868A>GCA4625255RP1L1c.1230T>C (p.Asn410=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612868A>TCA370295918RP1L1c.1230T>A (p.Asn410Lys)
dbSNP gnomAD v4
8g.10612869T>ACA370295921RP1L1c.1229A>T (p.Asn410Ile)
gnomAD v4
8g.10612869T>CCA370295919RP1L1c.1229A>G (p.Asn410Ser)
8g.10612869T>GCA370295920RP1L1c.1229A>C (p.Asn410Thr)
8g.10612870T>ACA370295922RP1L1c.1228A>T (p.Asn410Tyr)
8g.10612870T>CCA370295923RP1L1c.1228A>G (p.Asn410Asp)
8g.10612870T>GCA370295924RP1L1c.1228A>C (p.Asn410His)
8g.10612871C>ACA4625258RP1L1c.1227G>T (p.Thr409=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612871C=CA1763379139RP1L1c.1227G= (p.Thr409=)
8g.10612871C>GCA459620084RP1L1c.1227G>C (p.Thr409=)
8g.10612871C>TCA4625257RP1L1c.1227G>A (p.Thr409=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10612872G>ACA4625259RP1L1c.1226C>T (p.Thr409Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612872G>CCA370295925RP1L1c.1226C>G (p.Thr409Arg)
gnomAD v4
8g.10612872G=CA1763379141RP1L1c.1226C= (p.Thr409=)
8g.10612872G>TCA370295926RP1L1c.1226C>A (p.Thr409Lys)
8g.10612873T>ACA370295927RP1L1c.1225A>T (p.Thr409Ser)
8g.10612873T>CCA370295928RP1L1c.1225A>G (p.Thr409Ala)
8g.10612873T>GCA370295929RP1L1c.1225A>C (p.Thr409Pro)
gnomAD v4
8g.10612874C>ACA4625261RP1L1c.1224G>T (p.Trp408Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612874C=CA1763379144RP1L1c.1224G= (p.Trp408=)
8g.10612874C>GCA4625260RP1L1c.1224G>C (p.Trp408Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612874C>TCA370295930RP1L1c.1224G>A (p.Trp408Ter)
dbSNP COSMIC
8g.10612875C>ACA370295935RP1L1c.1223G>T (p.Trp408Leu)
dbSNP gnomAD v3 gnomAD v4
8g.10612875C=CA1763379146RP1L1c.1223G= (p.Trp408=)
8g.10612875C>GCA370295931RP1L1c.1223G>C (p.Trp408Ser)
8g.10612875C>TCA370295933RP1L1c.1223G>A (p.Trp408Ter)
gnomAD v4 COSMIC
8g.10612876A=CA1763379147RP1L1c.1222T= (p.Trp408=)
8g.10612876A>CCA4625262RP1L1c.1222T>G (p.Trp408Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612876A>GCA370295938RP1L1c.1222T>C (p.Trp408Arg)
8g.10612876A>TCA370295940RP1L1c.1222T>A (p.Trp408Arg)
8g.10612877G>ACA459620094RP1L1c.1221C>T (p.Ile407=)
8g.10612877G>CCA370295941RP1L1c.1221C>G (p.Ile407Met)
ClinVar gnomAD v4
8g.10612877G=CA1763379149RP1L1c.1221C= (p.Ile407=)
8g.10612877G>TCA4625263RP1L1c.1221C>A (p.Ile407=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612878A>CCA370295944RP1L1c.1220T>G (p.Ile407Ser)
8g.10612878A>GCA370295945RP1L1c.1220T>C (p.Ile407Thr)
8g.10612878A>TCA370295946RP1L1c.1220T>A (p.Ile407Asn)
8g.10612879T>ACA370295949RP1L1c.1219A>T (p.Ile407Phe)
8g.10612879T>CCA370295951RP1L1c.1219A>G (p.Ile407Val)
8g.10612879T>GCA370295952RP1L1c.1219A>C (p.Ile407Leu)
8g.10612880T>ACA370295954RP1L1c.1218A>T (p.Glu406Asp)
dbSNP
8g.10612880T>CCA459620100RP1L1c.1218A>G (p.Glu406=)
8g.10612880T>GCA370295956RP1L1c.1218A>C (p.Glu406Asp)
dbSNP gnomAD v3 gnomAD v4
8g.10612880T=CA1763379150RP1L1c.1218A= (p.Glu406=)
8g.10612881T>ACA370295958RP1L1c.1217A>T (p.Glu406Val)
8g.10612881T>CCA370295959RP1L1c.1217A>G (p.Glu406Gly)
8g.10612881T>GCA370295960RP1L1c.1217A>C (p.Glu406Ala)
8g.10612882C>ACA370295961RP1L1c.1216G>T (p.Glu406Ter)
8g.10612882C>GCA370295963RP1L1c.1216G>C (p.Glu406Gln)
8g.10612882C>TCA370295966RP1L1c.1216G>A (p.Glu406Lys)
COSMIC
8g.10612883A=CA1763379152RP1L1c.1215T= (p.Tyr405=)
8g.10612883A>CCA171947817RP1L1c.1215T>G (p.Tyr405Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10612883A>GCA459620105RP1L1c.1215T>C (p.Tyr405=)
8g.10612883A>TCA370295969RP1L1c.1215T>A (p.Tyr405Ter)
gnomAD v4 COSMIC
8g.10612884T>ACA370295971RP1L1c.1214A>T (p.Tyr405Phe)
dbSNP gnomAD v2 gnomAD v4
8g.10612884T>CCA4625264RP1L1c.1214A>G (p.Tyr405Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612884T>GCA370295974RP1L1c.1214A>C (p.Tyr405Ser)
8g.10612884T=CA1763379154RP1L1c.1214A= (p.Tyr405=)
8g.10612885A>CCA370295978RP1L1c.1213T>G (p.Tyr405Asp)
8g.10612885A>GCA370295980RP1L1c.1213T>C (p.Tyr405His)
8g.10612885A>TCA370295977RP1L1c.1213T>A (p.Tyr405Asn)
8g.10612886C>ACA370295982RP1L1c.1212G>T (p.Lys404Asn)
8g.10612886C=CA1763379156RP1L1c.1212G= (p.Lys404=)
8g.10612886C>GCA370295984RP1L1c.1212G>C (p.Lys404Asn)
gnomAD v4
8g.10612886C>TCA4625265RP1L1c.1212G>A (p.Lys404=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612887T>ACA4625267RP1L1c.1211A>T (p.Lys404Met)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.10612887T>CCA4625266RP1L1c.1211A>G (p.Lys404Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612887T>GCA171947818RP1L1c.1211A>C (p.Lys404Thr)
dbSNP gnomAD v4
8g.10612887T=CA1763379159RP1L1c.1211A= (p.Lys404=)
8g.10612888T>ACA370295989RP1L1c.1210A>T (p.Lys404Ter)
8g.10612888T>CCA4625268RP1L1c.1210A>G (p.Lys404Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612888T>GCA370295991RP1L1c.1210A>C (p.Lys404Gln)
8g.10612888T=CA1763379161RP1L1c.1210A= (p.Lys404=)
8g.10612889G>ACA459620115RP1L1c.1209C>T (p.Pro403=)
8g.10612889G>CCA459620117RP1L1c.1209C>G (p.Pro403=)
dbSNP
8g.10612889G=CA1763379163RP1L1c.1209C= (p.Pro403=)
8g.10612889G>TCA459620116RP1L1c.1209C>A (p.Pro403=)
8g.10612891delCA2686114059RP1L1c.1209del (p.Lys404SerfsTer?)
gnomAD v4
8g.10612890G>ACA370295993RP1L1c.1208C>T (p.Pro403Leu)
8g.10612890G>CCA370295994RP1L1c.1208C>G (p.Pro403Arg)
dbSNP gnomAD v4
8g.10612890G=CA1763379165RP1L1c.1208C= (p.Pro403=)
8g.10612890G>TCA370295996RP1L1c.1208C>A (p.Pro403His)
COSMIC
8g.10612891G>ACA370296000RP1L1c.1207C>T (p.Pro403Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10612891G>CCA370296003RP1L1c.1207C>G (p.Pro403Ala)
gnomAD v4
8g.10612891G=CA1763379166RP1L1c.1207C= (p.Pro403=)
8g.10612891G>TCA370295998RP1L1c.1207C>A (p.Pro403Thr)
gnomAD v4
8g.10612892C>ACA459620122RP1L1c.1206G>T (p.Gly402=)
gnomAD v4
8g.10612892C>GCA459620123RP1L1c.1206G>C (p.Gly402=)
gnomAD v4
8g.10612892C>TCA459620124RP1L1c.1206G>A (p.Gly402=)
gnomAD v4
8g.10612893C>ACA370296005RP1L1c.1205G>T (p.Gly402Val)
8g.10612893C>GCA370296006RP1L1c.1205G>C (p.Gly402Ala)
8g.10612893C>TCA370296009RP1L1c.1205G>A (p.Gly402Glu)
8g.10612894C>ACA370296011RP1L1c.1204G>T (p.Gly402Trp)
8g.10612894C=CA1763379168RP1L1c.1204G= (p.Gly402=)
8g.10612894C>GCA370296013RP1L1c.1204G>C (p.Gly402Arg)
gnomAD v4
8g.10612894C>TCA4625269RP1L1c.1204G>A (p.Gly402Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612895T>ACA459620129RP1L1c.1203A>T (p.Pro401=)
8g.10612895T>CCA459620131RP1L1c.1203A>G (p.Pro401=)
8g.10612895T>GCA459620132RP1L1c.1203A>C (p.Pro401=)
ClinVar dbSNP gnomAD v4
8g.10612895T=CA1763379171RP1L1c.1203A= (p.Pro401=)
8g.10612896G>ACA370296018RP1L1c.1202C>T (p.Pro401Leu)
8g.10612896G>CCA370296015RP1L1c.1202C>G (p.Pro401Arg)
dbSNP
8g.10612896G=CA1763379173RP1L1c.1202C= (p.Pro401=)
8g.10612896G>TCA370296017RP1L1c.1202C>A (p.Pro401Gln)
gnomAD v4
8g.10612897G>ACA370296020RP1L1c.1201C>T (p.Pro401Ser)
dbSNP gnomAD v2 gnomAD v4
8g.10612897G>CCA370296021RP1L1c.1201C>G (p.Pro401Ala)
gnomAD v4
8g.10612897G=CA1763379175RP1L1c.1201C= (p.Pro401=)
8g.10612897G>TCA4625270RP1L1c.1201C>A (p.Pro401Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612898C>ACA370296023RP1L1c.1200G>T (p.Gln400His)
gnomAD v4 COSMIC
8g.10612898C=CA1763379177RP1L1c.1200G= (p.Gln400=)
8g.10612898C>GCA370296026RP1L1c.1200G>C (p.Gln400His)
8g.10612898C>TCA4625271RP1L1c.1200G>A (p.Gln400=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612899T>ACA370296032RP1L1c.1199A>T (p.Gln400Leu)
8g.10612899T>CCA370296034RP1L1c.1199A>G (p.Gln400Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10612899T>GCA370296029RP1L1c.1199A>C (p.Gln400Pro)
gnomAD v4
8g.10612899T=CA1763379179RP1L1c.1199A= (p.Gln400=)
8g.10612900G>ACA370296040RP1L1c.1198C>T (p.Gln400Ter)
gnomAD v4
8g.10612900G>CCA370296036RP1L1c.1198C>G (p.Gln400Glu)
8g.10612900G>TCA370296038RP1L1c.1198C>A (p.Gln400Lys)
8g.10612901C>ACA459620140RP1L1c.1197G>T (p.Gly399=)
8g.10612901C=CA1763379180RP1L1c.1197G= (p.Gly399=)
8g.10612901C>GCA459620141RP1L1c.1197G>C (p.Gly399=)
8g.10612901C>TCA4625272RP1L1c.1197G>A (p.Gly399=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612902C>ACA370296043RP1L1c.1196G>T (p.Gly399Val)
gnomAD v4
8g.10612902C=CA1763379181RP1L1c.1196G= (p.Gly399=)
8g.10612902C>GCA370296045RP1L1c.1196G>C (p.Gly399Ala)
8g.10612902C>TCA370296048RP1L1c.1196G>A (p.Gly399Glu)
dbSNP
8g.10612903C>ACA370296049RP1L1c.1195G>T (p.Gly399Trp)
COSMIC
8g.10612903C=CA1763379183RP1L1c.1195G= (p.Gly399=)
8g.10612903C>GCA370296050RP1L1c.1195G>C (p.Gly399Arg)
dbSNP gnomAD v4
8g.10612903C>TCA4625273RP1L1c.1195G>A (p.Gly399Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10612903_10612904delinsCGCA1763379185RP1L1c.1194_1195delinsCG (p.Gly398=)
8g.10612904delCA845125895RP1L1c.1194del (p.Gln400SerfsTer?)
dbSNP gnomAD v4
8g.10612904G>ACA4625274RP1L1c.1194C>T (p.Gly398=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612904G>CCA459620143RP1L1c.1194C>G (p.Gly398=)
dbSNP gnomAD v4
8g.10612904G=CA1763379188RP1L1c.1194C= (p.Gly398=)
8g.10612904G>TCA459620145RP1L1c.1194C>A (p.Gly398=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10612905C>ACA370296051RP1L1c.1193G>T (p.Gly398Val)
8g.10612905C>GCA370296052RP1L1c.1193G>C (p.Gly398Ala)
8g.10612905C>TCA370296054RP1L1c.1193G>A (p.Gly398Asp)
8g.10612906C>ACA370296059RP1L1c.1192G>T (p.Gly398Cys)
8g.10612906C>GCA370296057RP1L1c.1192G>C (p.Gly398Arg)
8g.10612906C>TCA370296056RP1L1c.1192G>A (p.Gly398Ser)
8g.10612907T>ACA459620148RP1L1c.1191A>T (p.Arg397=)
8g.10612907T>CCA4625275RP1L1c.1191A>G (p.Arg397=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10612907T>GCA459620149RP1L1c.1191A>C (p.Arg397=)
8g.10612907T=CA1763379190RP1L1c.1191A= (p.Arg397=)
8g.10612908C>ACA370296061RP1L1c.1190G>T (p.Arg397Leu)
gnomAD v4
8g.10612908C=CA1763379192RP1L1c.1190G= (p.Arg397=)
8g.10612908C>GCA370296063RP1L1c.1190G>C (p.Arg397Pro)
8g.10612908C>TCA4625276RP1L1c.1190G>A (p.Arg397Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612909G>ACA4625277RP1L1c.1189C>T (p.Arg397Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10612909G>CCA171947826RP1L1c.1189C>G (p.Arg397Gly)
dbSNP gnomAD v2 gnomAD v4
8g.10612909G=CA1763379194RP1L1c.1189C= (p.Arg397=)
8g.10612909G>TCA459620150RP1L1c.1189C>A (p.Arg397=)
8g.10612910G>ACA171947828RP1L1c.1188C>T (p.Gly396=)
dbSNP
8g.10612910G>CCA459620151RP1L1c.1188C>G (p.Gly396=)
8g.10612910G=CA1763379196RP1L1c.1188C= (p.Gly396=)
8g.10612910G>TCA459620152RP1L1c.1188C>A (p.Gly396=)
8g.10612911C>ACA370296067RP1L1c.1187G>T (p.Gly396Val)
8g.10612911C>GCA370296068RP1L1c.1187G>C (p.Gly396Ala)
8g.10612911C>TCA370296069RP1L1c.1187G>A (p.Gly396Asp)
8g.10612912C>ACA370296070RP1L1c.1186G>T (p.Gly396Cys)
dbSNP
8g.10612912C>GCA370296072RP1L1c.1186G>C (p.Gly396Arg)
gnomAD v4
8g.10612912C>TCA370296073RP1L1c.1186G>A (p.Gly396Ser)

Number of alleles fetched