Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.104741116_104741192del | CA2626827403 | ADSS1 | c.667-1_742del c.796-1_871del c.779-1_854del c.732-1_807del n.1588-1_1663del c.670-1_745del c.799-1_874del c.484-1_559del c.481-1_556del c.52-1_127del | gnomAD v4 |
14 | g.104741138_104741142del | CA2626827468 | ADSS1 | c.688_692del (p.Pro230GlyfsTer10) c.817_821del (p.Pro273GlyfsTer10) c.800_804del (n.800_804del) c.753_757del (n.753_757del) n.1609_1613del c.691_695del (p.Pro231GlyfsTer10) c.820_824del (p.Pro274GlyfsTer10) c.505_509del (p.Pro169GlyfsTer10) c.502_506del (p.Pro168GlyfsTer10) c.73_77del (p.Pro25GlyfsTer10) | gnomAD v4 |
14 | g.104741142T>A | CA391240429 | ADSS1 | c.692T>A (p.Met231Lys) c.821T>A (p.Met274Lys) c.804T>A (n.804T>A) c.757T>A (n.757T>A) n.1613T>A c.695T>A (p.Met232Lys) c.824T>A (p.Met275Lys) c.509T>A (p.Met170Lys) c.506T>A (p.Met169Lys) c.77T>A (p.Met26Lys) | |
14 | g.104741142T>C | CA391240430 | ADSS1 | c.692T>C (p.Met231Thr) c.821T>C (p.Met274Thr) c.804T>C (n.804T>C) c.757T>C (n.757T>C) n.1613T>C c.695T>C (p.Met232Thr) c.824T>C (p.Met275Thr) c.509T>C (p.Met170Thr) c.506T>C (p.Met169Thr) c.77T>C (p.Met26Thr) | gnomAD v4 |
14 | g.104741142T>G | CA391240431 | ADSS1 | c.692T>G (p.Met231Arg) c.821T>G (p.Met274Arg) c.804T>G (n.804T>G) c.757T>G (n.757T>G) n.1613T>G c.695T>G (p.Met232Arg) c.824T>G (p.Met275Arg) c.509T>G (p.Met170Arg) c.506T>G (p.Met169Arg) c.77T>G (p.Met26Arg) | |
14 | g.104741143G>A | CA391240434 | ADSS1 | c.693G>A (p.Met231Ile) c.822G>A (p.Met274Ile) c.805G>A (n.805G>A) c.758G>A (n.758G>A) n.1614G>A c.696G>A (p.Met232Ile) c.825G>A (p.Met275Ile) c.510G>A (p.Met170Ile) c.507G>A (p.Met169Ile) c.78G>A (p.Met26Ile) | |
14 | g.104741143G>C | CA391240438 | ADSS1 | c.693G>C (p.Met231Ile) c.822G>C (p.Met274Ile) c.805G>C (n.805G>C) c.758G>C (n.758G>C) n.1614G>C c.696G>C (p.Met232Ile) c.825G>C (p.Met275Ile) c.510G>C (p.Met170Ile) c.507G>C (p.Met169Ile) c.78G>C (p.Met26Ile) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741143G= | CA2160932298 | ADSS1 | c.693G= (p.Met231=) c.822G= (p.Met274=) c.805G= (n.805G=) c.758G= (n.758G=) n.1614G= c.696G= (p.Met232=) c.825G= (p.Met275=) c.510G= (p.Met170=) c.507G= (p.Met169=) c.78G= (p.Met26=) | |
14 | g.104741143G>T | CA391240436 | ADSS1 | c.693G>T (p.Met231Ile) c.822G>T (p.Met274Ile) c.805G>T (n.805G>T) c.758G>T (n.758G>T) n.1614G>T c.696G>T (p.Met232Ile) c.825G>T (p.Met275Ile) c.510G>T (p.Met170Ile) c.507G>T (p.Met169Ile) c.78G>T (p.Met26Ile) | |
14 | g.104741144G>A | CA267336767 | ADSS1 | c.694G>A (p.Val232Ile) c.823G>A (p.Val275Ile) c.806G>A (n.806G>A) c.759G>A (n.759G>A) n.1615G>A c.697G>A (p.Val233Ile) c.826G>A (p.Val276Ile) c.511G>A (p.Val171Ile) c.508G>A (p.Val170Ile) c.79G>A (p.Val27Ile) n.565C>T | dbSNP gnomAD v4 |
14 | g.104741144G>C | CA391240440 | ADSS1 | c.694G>C (p.Val232Leu) c.823G>C (p.Val275Leu) c.806G>C (n.806G>C) c.759G>C (n.759G>C) n.1615G>C c.697G>C (p.Val233Leu) c.826G>C (p.Val276Leu) c.511G>C (p.Val171Leu) c.508G>C (p.Val170Leu) c.79G>C (p.Val27Leu) n.565C>G | |
14 | g.104741144G= | CA2160932299 | ADSS1 | c.694G= (p.Val232=) c.823G= (p.Val275=) c.806G= (n.806G=) c.759G= (n.759G=) n.1615G= c.697G= (p.Val233=) c.826G= (p.Val276=) c.511G= (p.Val171=) c.508G= (p.Val170=) c.79G= (p.Val27=) n.565C= | |
14 | g.104741144G>T | CA391240442 | ADSS1 | c.694G>T (p.Val232Phe) c.823G>T (p.Val275Phe) c.806G>T (n.806G>T) c.759G>T (n.759G>T) n.1615G>T c.697G>T (p.Val233Phe) c.826G>T (p.Val276Phe) c.511G>T (p.Val171Phe) c.508G>T (p.Val170Phe) c.79G>T (p.Val27Phe) n.565C>A | |
14 | g.104741145T>A | CA391240444 | ADSS1 | c.695T>A (p.Val232Asp) c.824T>A (p.Val275Asp) c.807T>A (n.807T>A) c.760T>A (n.760T>A) n.1616T>A c.698T>A (p.Val233Asp) c.827T>A (p.Val276Asp) c.512T>A (p.Val171Asp) c.509T>A (p.Val170Asp) c.80T>A (p.Val27Asp) n.564A>T | |
14 | g.104741145T>C | CA391240445 | ADSS1 | c.695T>C (p.Val232Ala) c.824T>C (p.Val275Ala) c.807T>C (n.807T>C) c.760T>C (n.760T>C) n.1616T>C c.698T>C (p.Val233Ala) c.827T>C (p.Val276Ala) c.512T>C (p.Val171Ala) c.509T>C (p.Val170Ala) c.80T>C (p.Val27Ala) n.564A>G | |
14 | g.104741145T>G | CA391240448 | ADSS1 | c.695T>G (p.Val232Gly) c.824T>G (p.Val275Gly) c.807T>G (n.807T>G) c.760T>G (n.760T>G) n.1616T>G c.698T>G (p.Val233Gly) c.827T>G (p.Val276Gly) c.512T>G (p.Val171Gly) c.509T>G (p.Val170Gly) c.80T>G (p.Val27Gly) n.564A>C | |
14 | g.104741146C>A | CA488457326 | ADSS1 | c.696C>A (p.Val232=) c.825C>A (p.Val275=) c.808C>A (n.808C>A) c.761C>A (n.761C>A) n.1617C>A c.699C>A (p.Val233=) c.828C>A (p.Val276=) c.513C>A (p.Val171=) c.510C>A (p.Val170=) c.81C>A (p.Val27=) n.563G>T | |
14 | g.104741146C>G | CA488457327 | ADSS1 | c.696C>G (p.Val232=) c.825C>G (p.Val275=) c.808C>G (n.808C>G) c.761C>G (n.761C>G) n.1617C>G c.699C>G (p.Val233=) c.828C>G (p.Val276=) c.513C>G (p.Val171=) c.510C>G (p.Val170=) c.81C>G (p.Val27=) n.563G>C | |
14 | g.104741146C>T | CA488457328 | ADSS1 | c.696C>T (p.Val232=) c.825C>T (p.Val275=) c.808C>T (n.808C>T) c.761C>T (n.761C>T) n.1617C>T c.699C>T (p.Val233=) c.828C>T (p.Val276=) c.513C>T (p.Val171=) c.510C>T (p.Val170=) c.81C>T (p.Val27=) n.563G>A | |
14 | g.104741147C>A | CA488457329 | ADSS1 | c.697C>A (p.Arg233=) c.826C>A (p.Arg276=) c.809C>A (n.809C>A) c.762C>A (n.762C>A) n.1618C>A c.700C>A (p.Arg234=) c.829C>A (p.Arg277=) c.514C>A (p.Arg172=) c.511C>A (p.Arg171=) c.82C>A (p.Arg28=) n.562G>T | |
14 | g.104741147C= | CA2160932300 | ADSS1 | c.697C= (p.Arg233=) c.826C= (p.Arg276=) c.809C= (n.809C=) c.762C= (n.762C=) n.1618C= c.700C= (p.Arg234=) c.829C= (p.Arg277=) c.514C= (p.Arg172=) c.511C= (p.Arg171=) c.82C= (p.Arg28=) n.562G= | |
14 | g.104741147C>G | CA391240450 | ADSS1 | c.697C>G (p.Arg233Gly) c.826C>G (p.Arg276Gly) c.809C>G (n.809C>G) c.762C>G (n.762C>G) n.1618C>G c.700C>G (p.Arg234Gly) c.829C>G (p.Arg277Gly) c.514C>G (p.Arg172Gly) c.511C>G (p.Arg171Gly) c.82C>G (p.Arg28Gly) n.562G>C | |
14 | g.104741147C>T | CA391240452 | ADSS1 | c.697C>T (p.Arg233Ter) c.826C>T (p.Arg276Ter) c.809C>T (n.809C>T) c.762C>T (n.762C>T) n.1618C>T c.700C>T (p.Arg234Ter) c.829C>T (p.Arg277Ter) c.514C>T (p.Arg172Ter) c.511C>T (p.Arg171Ter) c.82C>T (p.Arg28Ter) n.562G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.104741148G>A | CA7373814 | ADSS1 | c.698G>A (p.Arg233Gln) c.827G>A (p.Arg276Gln) c.810G>A (n.810G>A) c.763G>A (n.763G>A) n.1619G>A c.701G>A (p.Arg234Gln) c.830G>A (p.Arg277Gln) c.515G>A (p.Arg172Gln) c.512G>A (p.Arg171Gln) c.83G>A (p.Arg28Gln) n.561C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741148G>C | CA7373815 | ADSS1 | c.698G>C (p.Arg233Pro) c.827G>C (p.Arg276Pro) c.810G>C (n.810G>C) c.763G>C (n.763G>C) n.1619G>C c.701G>C (p.Arg234Pro) c.830G>C (p.Arg277Pro) c.515G>C (p.Arg172Pro) c.512G>C (p.Arg171Pro) c.83G>C (p.Arg28Pro) n.561C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741148G= | CA2160932301 | ADSS1 | c.698G= (p.Arg233=) c.827G= (p.Arg276=) c.810G= (n.810G=) c.763G= (n.763G=) n.1619G= c.701G= (p.Arg234=) c.830G= (p.Arg277=) c.515G= (p.Arg172=) c.512G= (p.Arg171=) c.83G= (p.Arg28=) n.561C= | |
14 | g.104741148G>T | CA391240456 | ADSS1 | c.698G>T (p.Arg233Leu) c.827G>T (p.Arg276Leu) c.810G>T (n.810G>T) c.763G>T (n.763G>T) n.1619G>T c.701G>T (p.Arg234Leu) c.830G>T (p.Arg277Leu) c.515G>T (p.Arg172Leu) c.512G>T (p.Arg171Leu) c.83G>T (p.Arg28Leu) n.561C>A | |
14 | g.104741149A>C | CA488457330 | ADSS1 | c.699A>C (p.Arg233=) c.828A>C (p.Arg276=) c.811A>C (n.811A>C) c.764A>C (n.764A>C) n.1620A>C c.702A>C (p.Arg234=) c.831A>C (p.Arg277=) c.516A>C (p.Arg172=) c.513A>C (p.Arg171=) c.84A>C (p.Arg28=) n.560T>G | |
14 | g.104741149A>G | CA488457331 | ADSS1 | c.699A>G (p.Arg233=) c.828A>G (p.Arg276=) c.811A>G (n.811A>G) c.764A>G (n.764A>G) n.1620A>G c.702A>G (p.Arg234=) c.831A>G (p.Arg277=) c.516A>G (p.Arg172=) c.513A>G (p.Arg171=) c.84A>G (p.Arg28=) n.560T>C | |
14 | g.104741149A>T | CA488457332 | ADSS1 | c.699A>T (p.Arg233=) c.828A>T (p.Arg276=) c.811A>T (n.811A>T) c.764A>T (n.764A>T) n.1620A>T c.702A>T (p.Arg234=) c.831A>T (p.Arg277=) c.516A>T (p.Arg172=) c.513A>T (p.Arg171=) c.84A>T (p.Arg28=) n.560T>A | |
14 | g.104741150G>A | CA391240464 | ADSS1 | c.700G>A (p.Asp234Asn) c.829G>A (p.Asp277Asn) c.812G>A (n.812G>A) c.765G>A (n.765G>A) n.1621G>A c.703G>A (p.Asp235Asn) c.832G>A (p.Asp278Asn) c.517G>A (p.Asp173Asn) c.514G>A (p.Asp172Asn) c.85G>A (p.Asp29Asn) n.559C>T | dbSNP gnomAD v4 |
14 | g.104741150G>C | CA391240460 | ADSS1 | c.700G>C (p.Asp234His) c.829G>C (p.Asp277His) c.812G>C (n.812G>C) c.765G>C (n.765G>C) n.1621G>C c.703G>C (p.Asp235His) c.832G>C (p.Asp278His) c.517G>C (p.Asp173His) c.514G>C (p.Asp172His) c.85G>C (p.Asp29His) n.559C>G | |
14 | g.104741150G>T | CA391240463 | ADSS1 | c.700G>T (p.Asp234Tyr) c.829G>T (p.Asp277Tyr) c.812G>T (n.812G>T) c.765G>T (n.765G>T) n.1621G>T c.703G>T (p.Asp235Tyr) c.832G>T (p.Asp278Tyr) c.517G>T (p.Asp173Tyr) c.514G>T (p.Asp172Tyr) c.85G>T (p.Asp29Tyr) n.559C>A | |
14 | g.104741151A>C | CA391240466 | ADSS1 | c.701A>C (p.Asp234Ala) c.830A>C (p.Asp277Ala) c.813A>C (n.813A>C) c.766A>C (n.766A>C) n.1622A>C c.704A>C (p.Asp235Ala) c.833A>C (p.Asp278Ala) c.518A>C (p.Asp173Ala) c.515A>C (p.Asp172Ala) c.86A>C (p.Asp29Ala) n.558T>G | |
14 | g.104741151A>G | CA391240468 | ADSS1 | c.701A>G (p.Asp234Gly) c.830A>G (p.Asp277Gly) c.813A>G (n.813A>G) c.766A>G (n.766A>G) n.1622A>G c.704A>G (p.Asp235Gly) c.833A>G (p.Asp278Gly) c.518A>G (p.Asp173Gly) c.515A>G (p.Asp172Gly) c.86A>G (p.Asp29Gly) n.558T>C | |
14 | g.104741151A>T | CA391240467 | ADSS1 | c.701A>T (p.Asp234Val) c.830A>T (p.Asp277Val) c.813A>T (n.813A>T) c.766A>T (n.766A>T) n.1622A>T c.704A>T (p.Asp235Val) c.833A>T (p.Asp278Val) c.518A>T (p.Asp173Val) c.515A>T (p.Asp172Val) c.86A>T (p.Asp29Val) n.558T>A | |
14 | g.104741151_104741154delinsATGG | CA2160932302 | ADSS1 | c.701_704delinsATGG (p.Asp234=) c.830_833delinsATGG (p.Asp277=) c.813_816delinsATGG (n.813_816delinsATGG) c.766_769delinsATGG (n.766_769delinsATGG) n.1622_1625delinsATGG c.704_707delinsATGG (p.Asp235=) c.833_836delinsATGG (p.Asp278=) c.518_521delinsATGG (p.Asp173=) c.515_518delinsATGG (p.Asp172=) c.86_89delinsATGG (p.Asp29=) n.555_558delinsCCAT | |
14 | g.104741152T>A | CA391240470 | ADSS1 | c.702T>A (p.Asp234Glu) c.831T>A (p.Asp277Glu) c.814T>A (n.814T>A) c.767T>A (n.767T>A) n.1623T>A c.705T>A (p.Asp235Glu) c.834T>A (p.Asp278Glu) c.519T>A (p.Asp173Glu) c.516T>A (p.Asp172Glu) c.87T>A (p.Asp29Glu) n.557A>T | |
14 | g.104741152T>C | CA267336771 | ADSS1 | c.702T>C (p.Asp234=) c.831T>C (p.Asp277=) c.814T>C (n.814T>C) c.767T>C (n.767T>C) n.1623T>C c.705T>C (p.Asp235=) c.834T>C (p.Asp278=) c.519T>C (p.Asp173=) c.516T>C (p.Asp172=) c.87T>C (p.Asp29=) n.557A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741152T>G | CA391240471 | ADSS1 | c.702T>G (p.Asp234Glu) c.831T>G (p.Asp277Glu) c.814T>G (n.814T>G) c.767T>G (n.767T>G) n.1623T>G c.705T>G (p.Asp235Glu) c.834T>G (p.Asp278Glu) c.519T>G (p.Asp173Glu) c.516T>G (p.Asp172Glu) c.87T>G (p.Asp29Glu) n.557A>C | |
14 | g.104741152T= | CA2160932303 | ADSS1 | c.702T= (p.Asp234=) c.831T= (p.Asp277=) c.814T= (n.814T=) c.767T= (n.767T=) n.1623T= c.705T= (p.Asp235=) c.834T= (p.Asp278=) c.519T= (p.Asp173=) c.516T= (p.Asp172=) c.87T= (p.Asp29=) n.557A= | |
14 | g.104741154_104741156del | CA267336770 | ADSS1 | c.704_706del (p.Gly235del) c.833_835del (p.Gly278del) c.816_818del (n.816_818del) c.769_771del (n.769_771del) n.1625_1627del c.707_709del (p.Gly236del) c.836_838del (p.Gly279del) c.521_523del (p.Gly174del) c.518_520del (p.Gly173del) c.89_91del (p.Gly30del) n.555_557del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741153G>A | CA7373816 | ADSS1 | c.703G>A (p.Gly235Ser) c.832G>A (p.Gly278Ser) c.815G>A (n.815G>A) c.768G>A (n.768G>A) n.1624G>A c.706G>A (p.Gly236Ser) c.835G>A (p.Gly279Ser) c.520G>A (p.Gly174Ser) c.517G>A (p.Gly173Ser) c.88G>A (p.Gly30Ser) n.556C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741153G>C | CA391240476 | ADSS1 | c.703G>C (p.Gly235Arg) c.832G>C (p.Gly278Arg) c.815G>C (n.815G>C) c.768G>C (n.768G>C) n.1624G>C c.706G>C (p.Gly236Arg) c.835G>C (p.Gly279Arg) c.520G>C (p.Gly174Arg) c.517G>C (p.Gly173Arg) c.88G>C (p.Gly30Arg) n.556C>G | |
14 | g.104741153G= | CA2160932305 | ADSS1 | c.703G= (p.Gly235=) c.832G= (p.Gly278=) c.815G= (n.815G=) c.768G= (n.768G=) n.1624G= c.706G= (p.Gly236=) c.835G= (p.Gly279=) c.520G= (p.Gly174=) c.517G= (p.Gly173=) c.88G= (p.Gly30=) n.556C= | |
14 | g.104741153G>T | CA391240474 | ADSS1 | c.703G>T (p.Gly235Cys) c.832G>T (p.Gly278Cys) c.815G>T (n.815G>T) c.768G>T (n.768G>T) n.1624G>T c.706G>T (p.Gly236Cys) c.835G>T (p.Gly279Cys) c.520G>T (p.Gly174Cys) c.517G>T (p.Gly173Cys) c.88G>T (p.Gly30Cys) n.556C>A | |
14 | g.104741154del | CA2626827523 | ADSS1 | c.704del (p.Gly235ValfsTer?) c.833del (p.Gly278ValfsTer?) c.816del (n.816del) c.769del (n.769del) n.1625del c.707del (p.Gly236ValfsTer?) c.836del (p.Gly279ValfsTer?) c.521del (p.Gly174ValfsTer?) c.518del (p.Gly173ValfsTer?) c.89del (p.Gly30ValfsTer?) n.556del | gnomAD v4 |
14 | g.104741154G>A | CA391240477 | ADSS1 | c.704G>A (p.Gly235Asp) c.833G>A (p.Gly278Asp) c.816G>A (n.816G>A) c.769G>A (n.769G>A) n.1625G>A c.707G>A (p.Gly236Asp) c.836G>A (p.Gly279Asp) c.521G>A (p.Gly174Asp) c.518G>A (p.Gly173Asp) c.89G>A (p.Gly30Asp) n.555C>T | |
14 | g.104741154G>C | CA391240479 | ADSS1 | c.704G>C (p.Gly235Ala) c.833G>C (p.Gly278Ala) c.816G>C (n.816G>C) c.769G>C (n.769G>C) n.1625G>C c.707G>C (p.Gly236Ala) c.836G>C (p.Gly279Ala) c.521G>C (p.Gly174Ala) c.518G>C (p.Gly173Ala) c.89G>C (p.Gly30Ala) n.555C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741154G= | CA2160932306 | ADSS1 | c.704G= (p.Gly235=) c.833G= (p.Gly278=) c.816G= (n.816G=) c.769G= (n.769G=) n.1625G= c.707G= (p.Gly236=) c.836G= (p.Gly279=) c.521G= (p.Gly174=) c.518G= (p.Gly173=) c.89G= (p.Gly30=) n.555C= | |
14 | g.104741154G>T | CA391240481 | ADSS1 | c.704G>T (p.Gly235Val) c.833G>T (p.Gly278Val) c.816G>T (n.816G>T) c.769G>T (n.769G>T) n.1625G>T c.707G>T (p.Gly236Val) c.836G>T (p.Gly279Val) c.521G>T (p.Gly174Val) c.518G>T (p.Gly173Val) c.89G>T (p.Gly30Val) n.555C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741155T>A | CA488457335 | ADSS1 | c.705T>A (p.Gly235=) c.834T>A (p.Gly278=) c.817T>A (n.817T>A) c.770T>A (n.770T>A) n.1626T>A c.708T>A (p.Gly236=) c.837T>A (p.Gly279=) c.522T>A (p.Gly174=) c.519T>A (p.Gly173=) c.90T>A (p.Gly30=) n.554A>T | |
14 | g.104741155T>C | CA488457334 | ADSS1 | c.705T>C (p.Gly235=) c.834T>C (p.Gly278=) c.817T>C (n.817T>C) c.770T>C (n.770T>C) n.1626T>C c.708T>C (p.Gly236=) c.837T>C (p.Gly279=) c.522T>C (p.Gly174=) c.519T>C (p.Gly173=) c.90T>C (p.Gly30=) n.554A>G | |
14 | g.104741155T>G | CA488457333 | ADSS1 | c.705T>G (p.Gly235=) c.834T>G (p.Gly278=) c.817T>G (n.817T>G) c.770T>G (n.770T>G) n.1626T>G c.708T>G (p.Gly236=) c.837T>G (p.Gly279=) c.522T>G (p.Gly174=) c.519T>G (p.Gly173=) c.90T>G (p.Gly30=) n.554A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741155T= | CA2160932307 | ADSS1 | c.705T= (p.Gly235=) c.834T= (p.Gly278=) c.817T= (n.817T=) c.770T= (n.770T=) n.1626T= c.708T= (p.Gly236=) c.837T= (p.Gly279=) c.522T= (p.Gly174=) c.519T= (p.Gly173=) c.90T= (p.Gly30=) n.554A= | |
14 | g.104741156G>A | CA391240482 | ADSS1 | c.706G>A (p.Val236Ile) c.835G>A (p.Val279Ile) c.818G>A (n.818G>A) c.771G>A (n.771G>A) n.1627G>A c.709G>A (p.Val237Ile) c.838G>A (p.Val280Ile) c.523G>A (p.Val175Ile) c.520G>A (p.Val174Ile) c.91G>A (p.Val31Ile) n.553C>T | |
14 | g.104741156G>C | CA391240484 | ADSS1 | c.706G>C (p.Val236Leu) c.835G>C (p.Val279Leu) c.818G>C (n.818G>C) c.771G>C (n.771G>C) n.1627G>C c.709G>C (p.Val237Leu) c.838G>C (p.Val280Leu) c.523G>C (p.Val175Leu) c.520G>C (p.Val174Leu) c.91G>C (p.Val31Leu) n.553C>G | |
14 | g.104741156G>T | CA391240485 | ADSS1 | c.706G>T (p.Val236Phe) c.835G>T (p.Val279Phe) c.818G>T (n.818G>T) c.771G>T (n.771G>T) n.1627G>T c.709G>T (p.Val237Phe) c.838G>T (p.Val280Phe) c.523G>T (p.Val175Phe) c.520G>T (p.Val174Phe) c.91G>T (p.Val31Phe) n.553C>A | |
14 | g.104741156_104741157delinsGT | CA2160932308 | ADSS1 | c.706_707delinsGT (p.Val236=) c.835_836delinsGT (p.Val279=) c.818_819delinsGT (n.818_819delinsGT) c.771_772delinsGT (n.771_772delinsGT) n.1627_1628delinsGT c.709_710delinsGT (p.Val237=) c.838_839delinsGT (p.Val280=) c.523_524delinsGT (p.Val175=) c.520_521delinsGT (p.Val174=) c.91_92delinsGT (p.Val31=) n.552_553delinsAC | |
14 | g.104741156_104741161delinsGTTTAC | CA2160932309 | ADSS1 | c.706_711delinsGTTTAC (p.Val236=) c.835_840delinsGTTTAC (p.Val279=) c.818_823delinsGTTTAC (n.818_823delinsGTTTAC) c.771_776delinsGTTTAC (n.771_776delinsGTTTAC) n.1627_1632delinsGTTTAC c.709_714delinsGTTTAC (p.Val237=) c.838_843delinsGTTTAC (p.Val280=) c.523_528delinsGTTTAC (p.Val175=) c.520_525delinsGTTTAC (p.Val174=) c.91_96delinsGTTTAC (p.Val31=) n.548_553delinsGTAAAC | |
14 | g.104741157T>A | CA391240486 | ADSS1 | c.707T>A (p.Val236Asp) c.836T>A (p.Val279Asp) c.819T>A (n.819T>A) c.772T>A (n.772T>A) n.1628T>A c.710T>A (p.Val237Asp) c.839T>A (p.Val280Asp) c.524T>A (p.Val175Asp) c.521T>A (p.Val174Asp) c.92T>A (p.Val31Asp) n.552A>T | |
14 | g.104741157T>C | CA391240487 | ADSS1 | c.707T>C (p.Val236Ala) c.836T>C (p.Val279Ala) c.819T>C (n.819T>C) c.772T>C (n.772T>C) n.1628T>C c.710T>C (p.Val237Ala) c.839T>C (p.Val280Ala) c.524T>C (p.Val175Ala) c.521T>C (p.Val174Ala) c.92T>C (p.Val31Ala) n.552A>G | |
14 | g.104741157T>G | CA391240489 | ADSS1 | c.707T>G (p.Val236Gly) c.836T>G (p.Val279Gly) c.819T>G (n.819T>G) c.772T>G (n.772T>G) n.1628T>G c.710T>G (p.Val237Gly) c.839T>G (p.Val280Gly) c.524T>G (p.Val175Gly) c.521T>G (p.Val174Gly) c.92T>G (p.Val31Gly) n.552A>C | |
14 | g.104741159del | CA966919455 | ADSS1 | c.709del (p.Tyr237ThrfsTer?) c.838del (p.Tyr280ThrfsTer?) c.821del (n.821del) c.774del (n.774del) n.1630del c.712del (p.Tyr238ThrfsTer?) c.841del (p.Tyr281ThrfsTer?) c.526del (p.Tyr176ThrfsTer?) c.523del (p.Tyr175ThrfsTer?) c.94del (p.Tyr32ThrfsTer?) n.552del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741161_104741165del | CA7373817 | ADSS1 | c.711_715del (p.Phe238ValfsTer2) c.840_844del (p.Phe281ValfsTer2) c.823_827del (n.823_827del) c.776_780del (n.776_780del) n.1632_1636del c.714_718del (p.Phe239ValfsTer2) c.843_847del (p.Phe282ValfsTer2) c.528_532del (p.Phe177ValfsTer2) c.525_529del (p.Phe176ValfsTer2) c.96_100del (p.Phe33ValfsTer2) n.548_552del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741158T>A | CA488457338 | ADSS1 | c.708T>A (p.Val236=) c.837T>A (p.Val279=) c.820T>A (n.820T>A) c.773T>A (n.773T>A) n.1629T>A c.711T>A (p.Val237=) c.840T>A (p.Val280=) c.525T>A (p.Val175=) c.522T>A (p.Val174=) c.93T>A (p.Val31=) n.551A>T | |
14 | g.104741158T>C | CA488457337 | ADSS1 | c.708T>C (p.Val236=) c.837T>C (p.Val279=) c.820T>C (n.820T>C) c.773T>C (n.773T>C) n.1629T>C c.711T>C (p.Val237=) c.840T>C (p.Val280=) c.525T>C (p.Val175=) c.522T>C (p.Val174=) c.93T>C (p.Val31=) n.551A>G | |
14 | g.104741158T>G | CA488457336 | ADSS1 | c.708T>G (p.Val236=) c.837T>G (p.Val279=) c.820T>G (n.820T>G) c.773T>G (n.773T>G) n.1629T>G c.711T>G (p.Val237=) c.840T>G (p.Val280=) c.525T>G (p.Val175=) c.522T>G (p.Val174=) c.93T>G (p.Val31=) n.551A>C | |
14 | g.104741159T>A | CA391240491 | ADSS1 | c.709T>A (p.Tyr237Asn) c.838T>A (p.Tyr280Asn) c.821T>A (n.821T>A) c.774T>A (n.774T>A) n.1630T>A c.712T>A (p.Tyr238Asn) c.841T>A (p.Tyr281Asn) c.526T>A (p.Tyr176Asn) c.523T>A (p.Tyr175Asn) c.94T>A (p.Tyr32Asn) n.550A>T | |
14 | g.104741159T>C | CA7373818 | ADSS1 | c.709T>C (p.Tyr237His) c.838T>C (p.Tyr280His) c.821T>C (n.821T>C) c.774T>C (n.774T>C) n.1630T>C c.712T>C (p.Tyr238His) c.841T>C (p.Tyr281His) c.526T>C (p.Tyr176His) c.523T>C (p.Tyr175His) c.94T>C (p.Tyr32His) n.550A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741159T>G | CA391240493 | ADSS1 | c.709T>G (p.Tyr237Asp) c.838T>G (p.Tyr280Asp) c.821T>G (n.821T>G) c.774T>G (n.774T>G) n.1630T>G c.712T>G (p.Tyr238Asp) c.841T>G (p.Tyr281Asp) c.526T>G (p.Tyr176Asp) c.523T>G (p.Tyr175Asp) c.94T>G (p.Tyr32Asp) n.550A>C | |
14 | g.104741159T= | CA2160932311 | ADSS1 | c.709T= (p.Tyr237=) c.838T= (p.Tyr280=) c.821T= (n.821T=) c.774T= (n.774T=) n.1630T= c.712T= (p.Tyr238=) c.841T= (p.Tyr281=) c.526T= (p.Tyr176=) c.523T= (p.Tyr175=) c.94T= (p.Tyr32=) n.550A= | |
14 | g.104741160A>C | CA391240497 | ADSS1 | c.710A>C (p.Tyr237Ser) c.839A>C (p.Tyr280Ser) c.822A>C (n.822A>C) c.775A>C (n.775A>C) n.1631A>C c.713A>C (p.Tyr238Ser) c.842A>C (p.Tyr281Ser) c.527A>C (p.Tyr176Ser) c.524A>C (p.Tyr175Ser) c.95A>C (p.Tyr32Ser) n.549T>G | |
14 | g.104741160A>G | CA391240495 | ADSS1 | c.710A>G (p.Tyr237Cys) c.839A>G (p.Tyr280Cys) c.822A>G (n.822A>G) c.775A>G (n.775A>G) n.1631A>G c.713A>G (p.Tyr238Cys) c.842A>G (p.Tyr281Cys) c.527A>G (p.Tyr176Cys) c.524A>G (p.Tyr175Cys) c.95A>G (p.Tyr32Cys) n.549T>C | COSMIC |
14 | g.104741160A>T | CA391240494 | ADSS1 | c.710A>T (p.Tyr237Phe) c.839A>T (p.Tyr280Phe) c.822A>T (n.822A>T) c.775A>T (n.775A>T) n.1631A>T c.713A>T (p.Tyr238Phe) c.842A>T (p.Tyr281Phe) c.527A>T (p.Tyr176Phe) c.524A>T (p.Tyr175Phe) c.95A>T (p.Tyr32Phe) n.549T>A | |
14 | g.104741161C>A | CA391240498 | ADSS1 | c.711C>A (p.Tyr237Ter) c.840C>A (p.Tyr280Ter) c.823C>A (n.823C>A) c.776C>A (n.776C>A) n.1632C>A c.714C>A (p.Tyr238Ter) c.843C>A (p.Tyr281Ter) c.528C>A (p.Tyr176Ter) c.525C>A (p.Tyr175Ter) c.96C>A (p.Tyr32Ter) n.548G>T | |
14 | g.104741161C>G | CA391240500 | ADSS1 | c.711C>G (p.Tyr237Ter) c.840C>G (p.Tyr280Ter) c.823C>G (n.823C>G) c.776C>G (n.776C>G) n.1632C>G c.714C>G (p.Tyr238Ter) c.843C>G (p.Tyr281Ter) c.528C>G (p.Tyr176Ter) c.525C>G (p.Tyr175Ter) c.96C>G (p.Tyr32Ter) n.548G>C | |
14 | g.104741161C>T | CA488457339 | ADSS1 | c.711C>T (p.Tyr237=) c.840C>T (p.Tyr280=) c.823C>T (n.823C>T) c.776C>T (n.776C>T) n.1632C>T c.714C>T (p.Tyr238=) c.843C>T (p.Tyr281=) c.528C>T (p.Tyr176=) c.525C>T (p.Tyr175=) c.96C>T (p.Tyr32=) n.548G>A | |
14 | g.104741162T>A | CA391240503 | ADSS1 | c.712T>A (p.Phe238Ile) c.841T>A (p.Phe281Ile) c.824T>A (n.824T>A) c.777T>A (n.777T>A) n.1633T>A c.715T>A (p.Phe239Ile) c.844T>A (p.Phe282Ile) c.529T>A (p.Phe177Ile) c.526T>A (p.Phe176Ile) c.97T>A (p.Phe33Ile) n.547A>T | |
14 | g.104741162T>C | CA7373819 | ADSS1 | c.712T>C (p.Phe238Leu) c.841T>C (p.Phe281Leu) c.824T>C (n.824T>C) c.777T>C (n.777T>C) n.1633T>C c.715T>C (p.Phe239Leu) c.844T>C (p.Phe282Leu) c.529T>C (p.Phe177Leu) c.526T>C (p.Phe176Leu) c.97T>C (p.Phe33Leu) n.547A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741162T>G | CA391240507 | ADSS1 | c.712T>G (p.Phe238Val) c.841T>G (p.Phe281Val) c.824T>G (n.824T>G) c.777T>G (n.777T>G) n.1633T>G c.715T>G (p.Phe239Val) c.844T>G (p.Phe282Val) c.529T>G (p.Phe177Val) c.526T>G (p.Phe176Val) c.97T>G (p.Phe33Val) n.547A>C | |
14 | g.104741162T= | CA2160932313 | ADSS1 | c.712T= (p.Phe238=) c.841T= (p.Phe281=) c.824T= (n.824T=) c.777T= (n.777T=) n.1633T= c.715T= (p.Phe239=) c.844T= (p.Phe282=) c.529T= (p.Phe177=) c.526T= (p.Phe176=) c.97T= (p.Phe33=) n.547A= | |
14 | g.104741163T>A | CA391240513 | ADSS1 | c.713T>A (p.Phe238Tyr) c.842T>A (p.Phe281Tyr) c.825T>A (n.825T>A) c.778T>A (n.778T>A) n.1634T>A c.716T>A (p.Phe239Tyr) c.845T>A (p.Phe282Tyr) c.530T>A (p.Phe177Tyr) c.527T>A (p.Phe176Tyr) c.98T>A (p.Phe33Tyr) n.546A>T | |
14 | g.104741163T>C | CA391240515 | ADSS1 | c.713T>C (p.Phe238Ser) c.842T>C (p.Phe281Ser) c.825T>C (n.825T>C) c.778T>C (n.778T>C) n.1634T>C c.716T>C (p.Phe239Ser) c.845T>C (p.Phe282Ser) c.530T>C (p.Phe177Ser) c.527T>C (p.Phe176Ser) c.98T>C (p.Phe33Ser) n.546A>G | |
14 | g.104741163T>G | CA391240517 | ADSS1 | c.713T>G (p.Phe238Cys) c.842T>G (p.Phe281Cys) c.825T>G (n.825T>G) c.778T>G (n.778T>G) n.1634T>G c.716T>G (p.Phe239Cys) c.845T>G (p.Phe282Cys) c.530T>G (p.Phe177Cys) c.527T>G (p.Phe176Cys) c.98T>G (p.Phe33Cys) n.546A>C | |
14 | g.104741164T>A | CA391240520 | ADSS1 | c.714T>A (p.Phe238Leu) c.843T>A (p.Phe281Leu) c.826T>A (n.826T>A) c.779T>A (n.779T>A) n.1635T>A c.717T>A (p.Phe239Leu) c.846T>A (p.Phe282Leu) c.531T>A (p.Phe177Leu) c.528T>A (p.Phe176Leu) c.99T>A (p.Phe33Leu) n.545A>T | |
14 | g.104741164T>C | CA488457340 | ADSS1 | c.714T>C (p.Phe238=) c.843T>C (p.Phe281=) c.826T>C (n.826T>C) c.779T>C (n.779T>C) n.1635T>C c.717T>C (p.Phe239=) c.846T>C (p.Phe282=) c.531T>C (p.Phe177=) c.528T>C (p.Phe176=) c.99T>C (p.Phe33=) n.545A>G | |
14 | g.104741164T>G | CA391240521 | ADSS1 | c.714T>G (p.Phe238Leu) c.843T>G (p.Phe281Leu) c.826T>G (n.826T>G) c.779T>G (n.779T>G) n.1635T>G c.717T>G (p.Phe239Leu) c.846T>G (p.Phe282Leu) c.531T>G (p.Phe177Leu) c.528T>G (p.Phe176Leu) c.99T>G (p.Phe33Leu) n.545A>C | |
14 | g.104741168_104741171del | CA2626827554 | ADSS1 | c.718_721del (p.Tyr240ArgfsTer30) c.847_850del (p.Tyr283ArgfsTer30) c.830_833del (n.830_833del) c.783_786del (n.783_786del) n.1639_1642del c.721_724del (p.Tyr241ArgfsTer30) c.850_853del (p.Tyr284ArgfsTer30) c.535_538del (p.Tyr179ArgfsTer30) c.532_535del (p.Tyr178ArgfsTer30) c.103_106del (p.Tyr35ArgfsTer30) n.542_545del | gnomAD v4 |
14 | g.104741165A= | CA2160932315 | ADSS1 | c.715A= (p.Met239=) c.844A= (p.Met282=) c.827A= (n.827A=) c.780A= (n.780A=) n.1636A= c.718A= (p.Met240=) c.847A= (p.Met283=) c.532A= (p.Met178=) c.529A= (p.Met177=) c.100A= (p.Met34=) n.544T= | |
14 | g.104741165A>C | CA7373820 | ADSS1 | c.715A>C (p.Met239Leu) c.844A>C (p.Met282Leu) c.827A>C (n.827A>C) c.780A>C (n.780A>C) n.1636A>C c.718A>C (p.Met240Leu) c.847A>C (p.Met283Leu) c.532A>C (p.Met178Leu) c.529A>C (p.Met177Leu) c.100A>C (p.Met34Leu) n.544T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741165A>G | CA391240524 | ADSS1 | c.715A>G (p.Met239Val) c.844A>G (p.Met282Val) c.827A>G (n.827A>G) c.780A>G (n.780A>G) n.1636A>G c.718A>G (p.Met240Val) c.847A>G (p.Met283Val) c.532A>G (p.Met178Val) c.529A>G (p.Met177Val) c.100A>G (p.Met34Val) n.544T>C | |
14 | g.104741165A>T | CA391240526 | ADSS1 | c.715A>T (p.Met239Leu) c.844A>T (p.Met282Leu) c.827A>T (n.827A>T) c.780A>T (n.780A>T) n.1636A>T c.718A>T (p.Met240Leu) c.847A>T (p.Met283Leu) c.532A>T (p.Met178Leu) c.529A>T (p.Met177Leu) c.100A>T (p.Met34Leu) n.544T>A | dbSNP |
14 | g.104741166T>A | CA391240529 | ADSS1 | c.716T>A (p.Met239Lys) c.845T>A (p.Met282Lys) c.828T>A (n.828T>A) c.781T>A (n.781T>A) n.1637T>A c.719T>A (p.Met240Lys) c.848T>A (p.Met283Lys) c.533T>A (p.Met178Lys) c.530T>A (p.Met177Lys) c.101T>A (p.Met34Lys) n.543A>T | dbSNP |
14 | g.104741166T>C | CA7373821 | ADSS1 | c.716T>C (p.Met239Thr) c.845T>C (p.Met282Thr) c.828T>C (n.828T>C) c.781T>C (n.781T>C) n.1637T>C c.719T>C (p.Met240Thr) c.848T>C (p.Met283Thr) c.533T>C (p.Met178Thr) c.530T>C (p.Met177Thr) c.101T>C (p.Met34Thr) n.543A>G | dbSNP ExAC gnomAD v2 |
14 | g.104741166T>G | CA391240528 | ADSS1 | c.716T>G (p.Met239Arg) c.845T>G (p.Met282Arg) c.828T>G (n.828T>G) c.781T>G (n.781T>G) n.1637T>G c.719T>G (p.Met240Arg) c.848T>G (p.Met283Arg) c.533T>G (p.Met178Arg) c.530T>G (p.Met177Arg) c.101T>G (p.Met34Arg) n.543A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741166T= | CA2160932317 | ADSS1 | c.716T= (p.Met239=) c.845T= (p.Met282=) c.828T= (n.828T=) c.781T= (n.781T=) n.1637T= c.719T= (p.Met240=) c.848T= (p.Met283=) c.533T= (p.Met178=) c.530T= (p.Met177=) c.101T= (p.Met34=) n.543A= | |
14 | g.104741167G>A | CA267336777 | ADSS1 | c.717G>A (p.Met239Ile) c.846G>A (p.Met282Ile) c.829G>A (n.829G>A) c.782G>A (n.782G>A) n.1638G>A c.720G>A (p.Met240Ile) c.849G>A (p.Met283Ile) c.534G>A (p.Met178Ile) c.531G>A (p.Met177Ile) c.102G>A (p.Met34Ile) n.542C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741167G>C | CA391240535 | ADSS1 | c.717G>C (p.Met239Ile) c.846G>C (p.Met282Ile) c.829G>C (n.829G>C) c.782G>C (n.782G>C) n.1638G>C c.720G>C (p.Met240Ile) c.849G>C (p.Met283Ile) c.534G>C (p.Met178Ile) c.531G>C (p.Met177Ile) c.102G>C (p.Met34Ile) n.542C>G | |
14 | g.104741167G= | CA2160932319 | ADSS1 | c.717G= (p.Met239=) c.846G= (p.Met282=) c.829G= (n.829G=) c.782G= (n.782G=) n.1638G= c.720G= (p.Met240=) c.849G= (p.Met283=) c.534G= (p.Met178=) c.531G= (p.Met177=) c.102G= (p.Met34=) n.542C= | |
14 | g.104741167G>T | CA391240537 | ADSS1 | c.717G>T (p.Met239Ile) c.846G>T (p.Met282Ile) c.829G>T (n.829G>T) c.782G>T (n.782G>T) n.1638G>T c.720G>T (p.Met240Ile) c.849G>T (p.Met283Ile) c.534G>T (p.Met178Ile) c.531G>T (p.Met177Ile) c.102G>T (p.Met34Ile) n.542C>A | |
14 | g.104741168T>A | CA391240539 | ADSS1 | c.718T>A (p.Tyr240Asn) c.847T>A (p.Tyr283Asn) c.830T>A (n.830T>A) c.783T>A (n.783T>A) n.1639T>A c.721T>A (p.Tyr241Asn) c.850T>A (p.Tyr284Asn) c.535T>A (p.Tyr179Asn) c.532T>A (p.Tyr178Asn) c.103T>A (p.Tyr35Asn) n.541A>T | |
14 | g.104741168T>C | CA391240541 | ADSS1 | c.718T>C (p.Tyr240His) c.847T>C (p.Tyr283His) c.830T>C (n.830T>C) c.783T>C (n.783T>C) n.1639T>C c.721T>C (p.Tyr241His) c.850T>C (p.Tyr284His) c.535T>C (p.Tyr179His) c.532T>C (p.Tyr178His) c.103T>C (p.Tyr35His) n.541A>G | |
14 | g.104741168T>G | CA391240544 | ADSS1 | c.718T>G (p.Tyr240Asp) c.847T>G (p.Tyr283Asp) c.830T>G (n.830T>G) c.783T>G (n.783T>G) n.1639T>G c.721T>G (p.Tyr241Asp) c.850T>G (p.Tyr284Asp) c.535T>G (p.Tyr179Asp) c.532T>G (p.Tyr178Asp) c.103T>G (p.Tyr35Asp) n.541A>C | |
14 | g.104741169A= | CA2160932320 | ADSS1 | c.719A= (p.Tyr240=) c.848A= (p.Tyr283=) c.831A= (n.831A=) c.784A= (n.784A=) n.1640A= c.722A= (p.Tyr241=) c.851A= (p.Tyr284=) c.536A= (p.Tyr179=) c.533A= (p.Tyr178=) c.104A= (p.Tyr35=) n.540T= | |
14 | g.104741169A>C | CA391240547 | ADSS1 | c.719A>C (p.Tyr240Ser) c.848A>C (p.Tyr283Ser) c.831A>C (n.831A>C) c.784A>C (n.784A>C) n.1640A>C c.722A>C (p.Tyr241Ser) c.851A>C (p.Tyr284Ser) c.536A>C (p.Tyr179Ser) c.533A>C (p.Tyr178Ser) c.104A>C (p.Tyr35Ser) n.540T>G | |
14 | g.104741169A>G | CA7373822 | ADSS1 | c.719A>G (p.Tyr240Cys) c.848A>G (p.Tyr283Cys) c.831A>G (n.831A>G) c.784A>G (n.784A>G) n.1640A>G c.722A>G (p.Tyr241Cys) c.851A>G (p.Tyr284Cys) c.536A>G (p.Tyr179Cys) c.533A>G (p.Tyr178Cys) c.104A>G (p.Tyr35Cys) n.540T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741169A>T | CA391240550 | ADSS1 | c.719A>T (p.Tyr240Phe) c.848A>T (p.Tyr283Phe) c.831A>T (n.831A>T) c.784A>T (n.784A>T) n.1640A>T c.722A>T (p.Tyr241Phe) c.851A>T (p.Tyr284Phe) c.536A>T (p.Tyr179Phe) c.533A>T (p.Tyr178Phe) c.104A>T (p.Tyr35Phe) n.540T>A | COSMIC |
14 | g.104741170T>A | CA391240552 | ADSS1 | c.720T>A (p.Tyr240Ter) c.849T>A (p.Tyr283Ter) c.832T>A (n.832T>A) c.785T>A (n.785T>A) n.1641T>A c.723T>A (p.Tyr241Ter) c.852T>A (p.Tyr284Ter) c.537T>A (p.Tyr179Ter) c.534T>A (p.Tyr178Ter) c.105T>A (p.Tyr35Ter) n.539A>T | |
14 | g.104741170T>C | CA488457341 | ADSS1 | c.720T>C (p.Tyr240=) c.849T>C (p.Tyr283=) c.832T>C (n.832T>C) c.785T>C (n.785T>C) n.1641T>C c.723T>C (p.Tyr241=) c.852T>C (p.Tyr284=) c.537T>C (p.Tyr179=) c.534T>C (p.Tyr178=) c.105T>C (p.Tyr35=) n.539A>G | |
14 | g.104741170T>G | CA391240554 | ADSS1 | c.720T>G (p.Tyr240Ter) c.849T>G (p.Tyr283Ter) c.832T>G (n.832T>G) c.785T>G (n.785T>G) n.1641T>G c.723T>G (p.Tyr241Ter) c.852T>G (p.Tyr284Ter) c.537T>G (p.Tyr179Ter) c.534T>G (p.Tyr178Ter) c.105T>G (p.Tyr35Ter) n.539A>C | |
14 | g.104741171G>A | CA391240560 | ADSS1 | c.721G>A (p.Glu241Lys) c.850G>A (p.Glu284Lys) c.833G>A (n.833G>A) c.786G>A (n.786G>A) n.1642G>A c.724G>A (p.Glu242Lys) c.853G>A (p.Glu285Lys) c.538G>A (p.Glu180Lys) c.535G>A (p.Glu179Lys) c.106G>A (p.Glu36Lys) n.538C>T | |
14 | g.104741171G>C | CA391240558 | ADSS1 | c.721G>C (p.Glu241Gln) c.850G>C (p.Glu284Gln) c.833G>C (n.833G>C) c.786G>C (n.786G>C) n.1642G>C c.724G>C (p.Glu242Gln) c.853G>C (p.Glu285Gln) c.538G>C (p.Glu180Gln) c.535G>C (p.Glu179Gln) c.106G>C (p.Glu36Gln) n.538C>G | |
14 | g.104741171G>T | CA391240557 | ADSS1 | c.721G>T (p.Glu241Ter) c.850G>T (p.Glu284Ter) c.833G>T (n.833G>T) c.786G>T (n.786G>T) n.1642G>T c.724G>T (p.Glu242Ter) c.853G>T (p.Glu285Ter) c.538G>T (p.Glu180Ter) c.535G>T (p.Glu179Ter) c.106G>T (p.Glu36Ter) n.538C>A | |
14 | g.104741172A>C | CA391240563 | ADSS1 | c.722A>C (p.Glu241Ala) c.851A>C (p.Glu284Ala) c.834A>C (n.834A>C) c.787A>C (n.787A>C) n.1643A>C c.725A>C (p.Glu242Ala) c.854A>C (p.Glu285Ala) c.539A>C (p.Glu180Ala) c.536A>C (p.Glu179Ala) c.107A>C (p.Glu36Ala) n.537T>G | |
14 | g.104741172A>G | CA391240565 | ADSS1 | c.722A>G (p.Glu241Gly) c.851A>G (p.Glu284Gly) c.834A>G (n.834A>G) c.787A>G (n.787A>G) n.1643A>G c.725A>G (p.Glu242Gly) c.854A>G (p.Glu285Gly) c.539A>G (p.Glu180Gly) c.536A>G (p.Glu179Gly) c.107A>G (p.Glu36Gly) n.537T>C | |
14 | g.104741172A>T | CA391240568 | ADSS1 | c.722A>T (p.Glu241Val) c.851A>T (p.Glu284Val) c.834A>T (n.834A>T) c.787A>T (n.787A>T) n.1643A>T c.725A>T (p.Glu242Val) c.854A>T (p.Glu285Val) c.539A>T (p.Glu180Val) c.536A>T (p.Glu179Val) c.107A>T (p.Glu36Val) n.537T>A | |
14 | g.104741173G>A | CA488457342 | ADSS1 | c.723G>A (p.Glu241=) c.852G>A (p.Glu284=) c.835G>A (n.835G>A) c.788G>A (n.788G>A) n.1644G>A c.726G>A (p.Glu242=) c.855G>A (p.Glu285=) c.540G>A (p.Glu180=) c.537G>A (p.Glu179=) c.108G>A (p.Glu36=) n.536C>T | |
14 | g.104741173G>C | CA391240569 | ADSS1 | c.723G>C (p.Glu241Asp) c.852G>C (p.Glu284Asp) c.835G>C (n.835G>C) c.788G>C (n.788G>C) n.1644G>C c.726G>C (p.Glu242Asp) c.855G>C (p.Glu285Asp) c.540G>C (p.Glu180Asp) c.537G>C (p.Glu179Asp) c.108G>C (p.Glu36Asp) n.536C>G | |
14 | g.104741173G>T | CA391240572 | ADSS1 | c.723G>T (p.Glu241Asp) c.852G>T (p.Glu284Asp) c.835G>T (n.835G>T) c.788G>T (n.788G>T) n.1644G>T c.726G>T (p.Glu242Asp) c.855G>T (p.Glu285Asp) c.540G>T (p.Glu180Asp) c.537G>T (p.Glu179Asp) c.108G>T (p.Glu36Asp) n.536C>A | |
14 | g.104741174G>A | CA267336778 | ADSS1 | c.724G>A (p.Ala242Thr) c.853G>A (p.Ala285Thr) c.836G>A (n.836G>A) c.789G>A (n.789G>A) n.1645G>A c.727G>A (p.Ala243Thr) c.856G>A (p.Ala286Thr) c.541G>A (p.Ala181Thr) c.538G>A (p.Ala180Thr) c.109G>A (p.Ala37Thr) n.535C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741174G>C | CA391240577 | ADSS1 | c.724G>C (p.Ala242Pro) c.853G>C (p.Ala285Pro) c.836G>C (n.836G>C) c.789G>C (n.789G>C) n.1645G>C c.727G>C (p.Ala243Pro) c.856G>C (p.Ala286Pro) c.541G>C (p.Ala181Pro) c.538G>C (p.Ala180Pro) c.109G>C (p.Ala37Pro) n.535C>G | |
14 | g.104741174G= | CA2160932321 | ADSS1 | c.724G= (p.Ala242=) c.853G= (p.Ala285=) c.836G= (n.836G=) c.789G= (n.789G=) n.1645G= c.727G= (p.Ala243=) c.856G= (p.Ala286=) c.541G= (p.Ala181=) c.538G= (p.Ala180=) c.109G= (p.Ala37=) n.535C= | |
14 | g.104741174G>T | CA391240581 | ADSS1 | c.724G>T (p.Ala242Ser) c.853G>T (p.Ala285Ser) c.836G>T (n.836G>T) c.789G>T (n.789G>T) n.1645G>T c.727G>T (p.Ala243Ser) c.856G>T (p.Ala286Ser) c.541G>T (p.Ala181Ser) c.538G>T (p.Ala180Ser) c.109G>T (p.Ala37Ser) n.535C>A | |
14 | g.104741175C>A | CA391240583 | ADSS1 | c.725C>A (p.Ala242Glu) c.854C>A (p.Ala285Glu) c.837C>A (n.837C>A) c.790C>A (n.790C>A) n.1646C>A c.728C>A (p.Ala243Glu) c.857C>A (p.Ala286Glu) c.542C>A (p.Ala181Glu) c.539C>A (p.Ala180Glu) c.110C>A (p.Ala37Glu) n.534G>T | dbSNP |
14 | g.104741175C= | CA2160932322 | ADSS1 | c.725C= (p.Ala242=) c.854C= (p.Ala285=) c.837C= (n.837C=) c.790C= (n.790C=) n.1646C= c.728C= (p.Ala243=) c.857C= (p.Ala286=) c.542C= (p.Ala181=) c.539C= (p.Ala180=) c.110C= (p.Ala37=) n.534G= | |
14 | g.104741175C>G | CA391240585 | ADSS1 | c.725C>G (p.Ala242Gly) c.854C>G (p.Ala285Gly) c.837C>G (n.837C>G) c.790C>G (n.790C>G) n.1646C>G c.728C>G (p.Ala243Gly) c.857C>G (p.Ala286Gly) c.542C>G (p.Ala181Gly) c.539C>G (p.Ala180Gly) c.110C>G (p.Ala37Gly) n.534G>C | |
14 | g.104741175C>T | CA7373823 | ADSS1 | c.725C>T (p.Ala242Val) c.854C>T (p.Ala285Val) c.837C>T (n.837C>T) c.790C>T (n.790C>T) n.1646C>T c.728C>T (p.Ala243Val) c.857C>T (p.Ala286Val) c.542C>T (p.Ala181Val) c.539C>T (p.Ala180Val) c.110C>T (p.Ala37Val) n.534G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741176A>C | CA488457345 | ADSS1 | c.726A>C (p.Ala242=) c.855A>C (p.Ala285=) c.838A>C (n.838A>C) c.791A>C (n.791A>C) n.1647A>C c.729A>C (p.Ala243=) c.858A>C (p.Ala286=) c.543A>C (p.Ala181=) c.540A>C (p.Ala180=) c.111A>C (p.Ala37=) n.533T>G | |
14 | g.104741176A>G | CA488457343 | ADSS1 | c.726A>G (p.Ala242=) c.855A>G (p.Ala285=) c.838A>G (n.838A>G) c.791A>G (n.791A>G) n.1647A>G c.729A>G (p.Ala243=) c.858A>G (p.Ala286=) c.543A>G (p.Ala181=) c.540A>G (p.Ala180=) c.111A>G (p.Ala37=) n.533T>C | |
14 | g.104741176A>T | CA488457344 | ADSS1 | c.726A>T (p.Ala242=) c.855A>T (p.Ala285=) c.838A>T (n.838A>T) c.791A>T (n.791A>T) n.1647A>T c.729A>T (p.Ala243=) c.858A>T (p.Ala286=) c.543A>T (p.Ala181=) c.540A>T (p.Ala180=) c.111A>T (p.Ala37=) n.533T>A | |
14 | g.104741177C>A | CA391240594 | ADSS1 | c.727C>A (p.Leu243Ile) c.856C>A (p.Leu286Ile) c.839C>A (n.839C>A) c.792C>A (n.792C>A) n.1648C>A c.730C>A (p.Leu244Ile) c.859C>A (p.Leu287Ile) c.544C>A (p.Leu182Ile) c.541C>A (p.Leu181Ile) c.112C>A (p.Leu38Ile) n.532G>T | |
14 | g.104741177C= | CA2160932323 | ADSS1 | c.727C= (p.Leu243=) c.856C= (p.Leu286=) c.839C= (n.839C=) c.792C= (n.792C=) n.1648C= c.730C= (p.Leu244=) c.859C= (p.Leu287=) c.544C= (p.Leu182=) c.541C= (p.Leu181=) c.112C= (p.Leu38=) n.532G= | |
14 | g.104741177C>G | CA391240591 | ADSS1 | c.727C>G (p.Leu243Val) c.856C>G (p.Leu286Val) c.839C>G (n.839C>G) c.792C>G (n.792C>G) n.1648C>G c.730C>G (p.Leu244Val) c.859C>G (p.Leu287Val) c.544C>G (p.Leu182Val) c.541C>G (p.Leu181Val) c.112C>G (p.Leu38Val) n.532G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741177C>T | CA391240589 | ADSS1 | c.727C>T (p.Leu243Phe) c.856C>T (p.Leu286Phe) c.839C>T (n.839C>T) c.792C>T (n.792C>T) n.1648C>T c.730C>T (p.Leu244Phe) c.859C>T (p.Leu287Phe) c.544C>T (p.Leu182Phe) c.541C>T (p.Leu181Phe) c.112C>T (p.Leu38Phe) n.532G>A | |
14 | g.104741178T>A | CA391240597 | ADSS1 | c.728T>A (p.Leu243His) c.857T>A (p.Leu286His) c.840T>A (n.840T>A) c.793T>A (n.793T>A) n.1649T>A c.731T>A (p.Leu244His) c.860T>A (p.Leu287His) c.545T>A (p.Leu182His) c.542T>A (p.Leu181His) c.113T>A (p.Leu38His) n.531A>T | |
14 | g.104741178T>C | CA391240598 | ADSS1 | c.728T>C (p.Leu243Pro) c.857T>C (p.Leu286Pro) c.840T>C (n.840T>C) c.793T>C (n.793T>C) n.1649T>C c.731T>C (p.Leu244Pro) c.860T>C (p.Leu287Pro) c.545T>C (p.Leu182Pro) c.542T>C (p.Leu181Pro) c.113T>C (p.Leu38Pro) n.531A>G | |
14 | g.104741178T>G | CA391240600 | ADSS1 | c.728T>G (p.Leu243Arg) c.857T>G (p.Leu286Arg) c.840T>G (n.840T>G) c.793T>G (n.793T>G) n.1649T>G c.731T>G (p.Leu244Arg) c.860T>G (p.Leu287Arg) c.545T>G (p.Leu182Arg) c.542T>G (p.Leu181Arg) c.113T>G (p.Leu38Arg) n.531A>C | |
14 | g.104741179C>A | CA7373824 | ADSS1 | c.729C>A (p.Leu243=) c.858C>A (p.Leu286=) c.841C>A (n.841C>A) c.794C>A (n.794C>A) n.1650C>A c.732C>A (p.Leu244=) c.861C>A (p.Leu287=) c.546C>A (p.Leu182=) c.543C>A (p.Leu181=) c.114C>A (p.Leu38=) n.530G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741179C= | CA2160932324 | ADSS1 | c.729C= (p.Leu243=) c.858C= (p.Leu286=) c.841C= (n.841C=) c.794C= (n.794C=) n.1650C= c.732C= (p.Leu244=) c.861C= (p.Leu287=) c.546C= (p.Leu182=) c.543C= (p.Leu181=) c.114C= (p.Leu38=) n.530G= | |
14 | g.104741179C>G | CA488457347 | ADSS1 | c.729C>G (p.Leu243=) c.858C>G (p.Leu286=) c.841C>G (n.841C>G) c.794C>G (n.794C>G) n.1650C>G c.732C>G (p.Leu244=) c.861C>G (p.Leu287=) c.546C>G (p.Leu182=) c.543C>G (p.Leu181=) c.114C>G (p.Leu38=) n.530G>C | |
14 | g.104741179C>T | CA488457346 | ADSS1 | c.729C>T (p.Leu243=) c.858C>T (p.Leu286=) c.841C>T (n.841C>T) c.794C>T (n.794C>T) n.1650C>T c.732C>T (p.Leu244=) c.861C>T (p.Leu287=) c.546C>T (p.Leu182=) c.543C>T (p.Leu181=) c.114C>T (p.Leu38=) n.530G>A | |
14 | g.104741180C>A | CA391240602 | ADSS1 | c.730C>A (p.His244Asn) c.859C>A (p.His287Asn) c.842C>A (n.842C>A) c.795C>A (n.795C>A) n.1651C>A c.733C>A (p.His245Asn) c.862C>A (p.His288Asn) c.547C>A (p.His183Asn) c.544C>A (p.His182Asn) c.115C>A (p.His39Asn) n.529G>T | |
14 | g.104741180C>G | CA391240603 | ADSS1 | c.730C>G (p.His244Asp) c.859C>G (p.His287Asp) c.842C>G (n.842C>G) c.795C>G (n.795C>G) n.1651C>G c.733C>G (p.His245Asp) c.862C>G (p.His288Asp) c.547C>G (p.His183Asp) c.544C>G (p.His182Asp) c.115C>G (p.His39Asp) n.529G>C | |
14 | g.104741180C>T | CA391240604 | ADSS1 | c.730C>T (p.His244Tyr) c.859C>T (p.His287Tyr) c.842C>T (n.842C>T) c.795C>T (n.795C>T) n.1651C>T c.733C>T (p.His245Tyr) c.862C>T (p.His288Tyr) c.547C>T (p.His183Tyr) c.544C>T (p.His182Tyr) c.115C>T (p.His39Tyr) n.529G>A | |
14 | g.104741181A= | CA2160932326 | ADSS1 | c.731A= (p.His244=) c.860A= (p.His287=) c.843A= (n.843A=) c.796A= (n.796A=) n.1652A= c.734A= (p.His245=) c.863A= (p.His288=) c.548A= (p.His183=) c.545A= (p.His182=) c.116A= (p.His39=) n.528T= | |
14 | g.104741181A>C | CA391240606 | ADSS1 | c.731A>C (p.His244Pro) c.860A>C (p.His287Pro) c.843A>C (n.843A>C) c.796A>C (n.796A>C) n.1652A>C c.734A>C (p.His245Pro) c.863A>C (p.His288Pro) c.548A>C (p.His183Pro) c.545A>C (p.His182Pro) c.116A>C (p.His39Pro) n.528T>G | |
14 | g.104741181A>G | CA391240608 | ADSS1 | c.731A>G (p.His244Arg) c.860A>G (p.His287Arg) c.843A>G (n.843A>G) c.796A>G (n.796A>G) n.1652A>G c.734A>G (p.His245Arg) c.863A>G (p.His288Arg) c.548A>G (p.His183Arg) c.545A>G (p.His182Arg) c.116A>G (p.His39Arg) n.528T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741181A>T | CA391240610 | ADSS1 | c.731A>T (p.His244Leu) c.860A>T (p.His287Leu) c.843A>T (n.843A>T) c.796A>T (n.796A>T) n.1652A>T c.734A>T (p.His245Leu) c.863A>T (p.His288Leu) c.548A>T (p.His183Leu) c.545A>T (p.His182Leu) c.116A>T (p.His39Leu) n.528T>A | |
14 | g.104741182C>A | CA391240611 | ADSS1 | c.732C>A (p.His244Gln) c.861C>A (p.His287Gln) c.844C>A (n.844C>A) c.797C>A (n.797C>A) n.1653C>A c.735C>A (p.His245Gln) c.864C>A (p.His288Gln) c.549C>A (p.His183Gln) c.546C>A (p.His182Gln) c.117C>A (p.His39Gln) n.527G>T | |
14 | g.104741182C= | CA2160932328 | ADSS1 | c.732C= (p.His244=) c.861C= (p.His287=) c.844C= (n.844C=) c.797C= (n.797C=) n.1653C= c.735C= (p.His245=) c.864C= (p.His288=) c.549C= (p.His183=) c.546C= (p.His182=) c.117C= (p.His39=) n.527G= | |
14 | g.104741182C>G | CA391240613 | ADSS1 | c.732C>G (p.His244Gln) c.861C>G (p.His287Gln) c.844C>G (n.844C>G) c.797C>G (n.797C>G) n.1653C>G c.735C>G (p.His245Gln) c.864C>G (p.His288Gln) c.549C>G (p.His183Gln) c.546C>G (p.His182Gln) c.117C>G (p.His39Gln) n.527G>C | |
14 | g.104741182C>T | CA7373825 | ADSS1 | c.732C>T (p.His244=) c.861C>T (p.His287=) c.844C>T (n.844C>T) c.797C>T (n.797C>T) n.1653C>T c.735C>T (p.His245=) c.864C>T (p.His288=) c.549C>T (p.His183=) c.546C>T (p.His182=) c.117C>T (p.His39=) n.527G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.104741183G>A | CA7373826 | ADSS1 | c.733G>A (p.Gly245Ser) c.862G>A (p.Gly288Ser) c.845G>A (n.845G>A) c.798G>A (n.798G>A) n.1654G>A c.736G>A (p.Gly246Ser) c.865G>A (p.Gly289Ser) c.550G>A (p.Gly184Ser) c.547G>A (p.Gly183Ser) c.118G>A (p.Gly40Ser) n.526C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741183G>C | CA391240619 | ADSS1 | c.733G>C (p.Gly245Arg) c.862G>C (p.Gly288Arg) c.845G>C (n.845G>C) c.798G>C (n.798G>C) n.1654G>C c.736G>C (p.Gly246Arg) c.865G>C (p.Gly289Arg) c.550G>C (p.Gly184Arg) c.547G>C (p.Gly183Arg) c.118G>C (p.Gly40Arg) n.526C>G | gnomAD v4 |
14 | g.104741183G= | CA2160932331 | ADSS1 | c.733G= (p.Gly245=) c.862G= (p.Gly288=) c.845G= (n.845G=) c.798G= (n.798G=) n.1654G= c.736G= (p.Gly246=) c.865G= (p.Gly289=) c.550G= (p.Gly184=) c.547G= (p.Gly183=) c.118G= (p.Gly40=) n.526C= | |
14 | g.104741183G>T | CA391240617 | ADSS1 | c.733G>T (p.Gly245Cys) c.862G>T (p.Gly288Cys) c.845G>T (n.845G>T) c.798G>T (n.798G>T) n.1654G>T c.736G>T (p.Gly246Cys) c.865G>T (p.Gly289Cys) c.550G>T (p.Gly184Cys) c.547G>T (p.Gly183Cys) c.118G>T (p.Gly40Cys) n.526C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.104741184G>A | CA391240623 | ADSS1 | c.734G>A (p.Gly245Asp) c.863G>A (p.Gly288Asp) c.846G>A (n.846G>A) c.799G>A (n.799G>A) n.1655G>A c.737G>A (p.Gly246Asp) c.866G>A (p.Gly289Asp) c.551G>A (p.Gly184Asp) c.548G>A (p.Gly183Asp) c.119G>A (p.Gly40Asp) n.525C>T | dbSNP |
14 | g.104741184G>C | CA391240625 | ADSS1 | c.734G>C (p.Gly245Ala) c.863G>C (p.Gly288Ala) c.846G>C (n.846G>C) c.799G>C (n.799G>C) n.1655G>C c.737G>C (p.Gly246Ala) c.866G>C (p.Gly289Ala) c.551G>C (p.Gly184Ala) c.548G>C (p.Gly183Ala) c.119G>C (p.Gly40Ala) n.525C>G | gnomAD v2 gnomAD v4 COSMIC |
14 | g.104741184G= | CA2160932334 | ADSS1 | c.734G= (p.Gly245=) c.863G= (p.Gly288=) c.846G= (n.846G=) c.799G= (n.799G=) n.1655G= c.737G= (p.Gly246=) c.866G= (p.Gly289=) c.551G= (p.Gly184=) c.548G= (p.Gly183=) c.119G= (p.Gly40=) n.525C= | |
14 | g.104741184G>T | CA391240628 | ADSS1 | c.734G>T (p.Gly245Val) c.863G>T (p.Gly288Val) c.846G>T (n.846G>T) c.799G>T (n.799G>T) n.1655G>T c.737G>T (p.Gly246Val) c.866G>T (p.Gly289Val) c.551G>T (p.Gly184Val) c.548G>T (p.Gly183Val) c.119G>T (p.Gly40Val) n.525C>A | |
14 | g.104741184_104741185delinsGC | CA2160932333 | ADSS1 | c.734_735delinsGC (p.Gly245=) c.863_864delinsGC (p.Gly288=) c.846_847delinsGC (n.846_847delinsGC) c.799_800delinsGC (n.799_800delinsGC) n.1655_1656delinsGC c.737_738delinsGC (p.Gly246=) c.866_867delinsGC (p.Gly289=) c.551_552delinsGC (p.Gly184=) c.548_549delinsGC (p.Gly183=) c.119_120delinsGC (p.Gly40=) n.524_525delinsGC | |
14 | g.104741185C>A | CA488457349 | ADSS1 | c.735C>A (p.Gly245=) c.864C>A (p.Gly288=) c.847C>A (n.847C>A) c.800C>A (n.800C>A) n.1656C>A c.738C>A (p.Gly246=) c.867C>A (p.Gly289=) c.552C>A (p.Gly184=) c.549C>A (p.Gly183=) c.120C>A (p.Gly40=) n.524G>T | |
14 | g.104741185C= | CA2160932341 | ADSS1 | c.735C= (p.Gly245=) c.864C= (p.Gly288=) c.847C= (n.847C=) c.800C= (n.800C=) n.1656C= c.738C= (p.Gly246=) c.867C= (p.Gly289=) c.552C= (p.Gly184=) c.549C= (p.Gly183=) c.120C= (p.Gly40=) n.524G= | |
14 | g.104741185C>G | CA488457350 | ADSS1 | c.735C>G (p.Gly245=) c.864C>G (p.Gly288=) c.847C>G (n.847C>G) c.800C>G (n.800C>G) n.1656C>G c.738C>G (p.Gly246=) c.867C>G (p.Gly289=) c.552C>G (p.Gly184=) c.549C>G (p.Gly183=) c.120C>G (p.Gly40=) n.524G>C | |
14 | g.104741185C>T | CA488457348 | ADSS1 | c.735C>T (p.Gly245=) c.864C>T (p.Gly288=) c.847C>T (n.847C>T) c.800C>T (n.800C>T) n.1656C>T c.738C>T (p.Gly246=) c.867C>T (p.Gly289=) c.552C>T (p.Gly184=) c.549C>T (p.Gly183=) c.120C>T (p.Gly40=) n.524G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741191dup | CA7373827 | ADSS1 | c.741dup (p.Lys248GlnfsTer16) c.870dup (p.Lys291GlnfsTer16) c.853dup (n.853dup) c.806dup (n.806dup) n.1662dup c.744dup (p.Lys249GlnfsTer16) c.873dup (p.Lys292GlnfsTer16) c.558dup (p.Lys187GlnfsTer16) c.555dup (p.Lys186GlnfsTer16) c.126dup (p.Lys43GlnfsTer16) n.524dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.104741190_104741191dup | CA2626827619 | ADSS1 | c.740_741dup (p.Lys248ProfsTer24) c.869_870dup (p.Lys291ProfsTer24) c.852_853dup (n.852_853dup) c.805_806dup (n.805_806dup) n.1661_1662dup c.743_744dup (p.Lys249ProfsTer24) c.872_873dup (p.Lys292ProfsTer24) c.557_558dup (p.Lys187ProfsTer24) c.554_555dup (p.Lys186ProfsTer24) c.125_126dup (p.Lys43ProfsTer24) n.523_524dup | gnomAD v4 |
14 | g.104741191del | CA7373828 | ADSS1 | c.741del (p.Lys248ArgfsTer23) c.870del (p.Lys291ArgfsTer23) c.853del (n.853del) c.806del (n.806del) n.1662del c.744del (p.Lys249ArgfsTer23) c.873del (p.Lys292ArgfsTer23) c.558del (p.Lys187ArgfsTer23) c.555del (p.Lys186ArgfsTer23) c.126del (p.Lys43ArgfsTer23) n.524del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741186C>A | CA391240632 | ADSS1 | c.736C>A (p.Pro246Thr) c.865C>A (p.Pro289Thr) c.848C>A (n.848C>A) c.801C>A (n.801C>A) n.1657C>A c.739C>A (p.Pro247Thr) c.868C>A (p.Pro290Thr) c.553C>A (p.Pro185Thr) c.550C>A (p.Pro184Thr) c.121C>A (p.Pro41Thr) n.523G>T | ClinVar dbSNP gnomAD v4 |
14 | g.104741186C= | CA2160932343 | ADSS1 | c.736C= (p.Pro246=) c.865C= (p.Pro289=) c.848C= (n.848C=) c.801C= (n.801C=) n.1657C= c.739C= (p.Pro247=) c.868C= (p.Pro290=) c.553C= (p.Pro185=) c.550C= (p.Pro184=) c.121C= (p.Pro41=) n.523G= | |
14 | g.104741186C>G | CA7373829 | ADSS1 | c.736C>G (p.Pro246Ala) c.865C>G (p.Pro289Ala) c.848C>G (n.848C>G) c.801C>G (n.801C>G) n.1657C>G c.739C>G (p.Pro247Ala) c.868C>G (p.Pro290Ala) c.553C>G (p.Pro185Ala) c.550C>G (p.Pro184Ala) c.121C>G (p.Pro41Ala) n.523G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741186C>T | CA391240633 | ADSS1 | c.736C>T (p.Pro246Ser) c.865C>T (p.Pro289Ser) c.848C>T (n.848C>T) c.801C>T (n.801C>T) n.1657C>T c.739C>T (p.Pro247Ser) c.868C>T (p.Pro290Ser) c.553C>T (p.Pro185Ser) c.550C>T (p.Pro184Ser) c.121C>T (p.Pro41Ser) n.523G>A | gnomAD v4 |
14 | g.104741187C>A | CA391240636 | ADSS1 | c.737C>A (p.Pro246His) c.866C>A (p.Pro289His) c.849C>A (n.849C>A) c.802C>A (n.802C>A) n.1658C>A c.740C>A (p.Pro247His) c.869C>A (p.Pro290His) c.554C>A (p.Pro185His) c.551C>A (p.Pro184His) c.122C>A (p.Pro41His) n.522G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741187C= | CA2160932345 | ADSS1 | c.737C= (p.Pro246=) c.866C= (p.Pro289=) c.849C= (n.849C=) c.802C= (n.802C=) n.1658C= c.740C= (p.Pro247=) c.869C= (p.Pro290=) c.554C= (p.Pro185=) c.551C= (p.Pro184=) c.122C= (p.Pro41=) n.522G= | |
14 | g.104741187C>G | CA391240638 | ADSS1 | c.737C>G (p.Pro246Arg) c.866C>G (p.Pro289Arg) c.849C>G (n.849C>G) c.802C>G (n.802C>G) n.1658C>G c.740C>G (p.Pro247Arg) c.869C>G (p.Pro290Arg) c.554C>G (p.Pro185Arg) c.551C>G (p.Pro184Arg) c.122C>G (p.Pro41Arg) n.522G>C | gnomAD v4 |
14 | g.104741187C>T | CA391240639 | ADSS1 | c.737C>T (p.Pro246Leu) c.866C>T (p.Pro289Leu) c.849C>T (n.849C>T) c.802C>T (n.802C>T) n.1658C>T c.740C>T (p.Pro247Leu) c.869C>T (p.Pro290Leu) c.554C>T (p.Pro185Leu) c.551C>T (p.Pro184Leu) c.122C>T (p.Pro41Leu) n.522G>A | gnomAD v4 |
14 | g.104741188C>A | CA488457353 | ADSS1 | c.738C>A (p.Pro246=) c.867C>A (p.Pro289=) c.850C>A (n.850C>A) c.803C>A (n.803C>A) n.1659C>A c.741C>A (p.Pro247=) c.870C>A (p.Pro290=) c.555C>A (p.Pro185=) c.552C>A (p.Pro184=) c.123C>A (p.Pro41=) n.521G>T | |
14 | g.104741188C>G | CA488457352 | ADSS1 | c.738C>G (p.Pro246=) c.867C>G (p.Pro289=) c.850C>G (n.850C>G) c.803C>G (n.803C>G) n.1659C>G c.741C>G (p.Pro247=) c.870C>G (p.Pro290=) c.555C>G (p.Pro185=) c.552C>G (p.Pro184=) c.123C>G (p.Pro41=) n.521G>C | |
14 | g.104741188C>T | CA488457351 | ADSS1 | c.738C>T (p.Pro246=) c.867C>T (p.Pro289=) c.850C>T (n.850C>T) c.803C>T (n.803C>T) n.1659C>T c.741C>T (p.Pro247=) c.870C>T (p.Pro290=) c.555C>T (p.Pro185=) c.552C>T (p.Pro184=) c.123C>T (p.Pro41=) n.521G>A | |
14 | g.104741189C>A | CA391240642 | ADSS1 | c.739C>A (p.Pro247Thr) c.868C>A (p.Pro290Thr) c.851C>A (n.851C>A) c.804C>A (n.804C>A) n.1660C>A c.742C>A (p.Pro248Thr) c.871C>A (p.Pro291Thr) c.556C>A (p.Pro186Thr) c.553C>A (p.Pro185Thr) c.124C>A (p.Pro42Thr) n.520G>T | gnomAD v4 |
14 | g.104741189C>G | CA391240644 | ADSS1 | c.739C>G (p.Pro247Ala) c.868C>G (p.Pro290Ala) c.851C>G (n.851C>G) c.804C>G (n.804C>G) n.1660C>G c.742C>G (p.Pro248Ala) c.871C>G (p.Pro291Ala) c.556C>G (p.Pro186Ala) c.553C>G (p.Pro185Ala) c.124C>G (p.Pro42Ala) n.520G>C | |
14 | g.104741189C>T | CA391240647 | ADSS1 | c.739C>T (p.Pro247Ser) c.868C>T (p.Pro290Ser) c.851C>T (n.851C>T) c.804C>T (n.804C>T) n.1660C>T c.742C>T (p.Pro248Ser) c.871C>T (p.Pro291Ser) c.556C>T (p.Pro186Ser) c.553C>T (p.Pro185Ser) c.124C>T (p.Pro42Ser) n.520G>A | gnomAD v4 |
14 | g.104741190C>A | CA7373831 | ADSS1 | c.740C>A (p.Pro247His) c.869C>A (p.Pro290His) c.852C>A (n.852C>A) c.805C>A (n.805C>A) n.1661C>A c.743C>A (p.Pro248His) c.872C>A (p.Pro291His) c.557C>A (p.Pro186His) c.554C>A (p.Pro185His) c.125C>A (p.Pro42His) n.519G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741190C= | CA2160932346 | ADSS1 | c.740C= (p.Pro247=) c.869C= (p.Pro290=) c.852C= (n.852C=) c.805C= (n.805C=) n.1661C= c.743C= (p.Pro248=) c.872C= (p.Pro291=) c.557C= (p.Pro186=) c.554C= (p.Pro185=) c.125C= (p.Pro42=) n.519G= | |
14 | g.104741190C>G | CA7373830 | ADSS1 | c.740C>G (p.Pro247Arg) c.869C>G (p.Pro290Arg) c.852C>G (n.852C>G) c.805C>G (n.805C>G) n.1661C>G c.743C>G (p.Pro248Arg) c.872C>G (p.Pro291Arg) c.557C>G (p.Pro186Arg) c.554C>G (p.Pro185Arg) c.125C>G (p.Pro42Arg) n.519G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741190C>T | CA7373832 | ADSS1 | c.740C>T (p.Pro247Leu) c.869C>T (p.Pro290Leu) c.852C>T (n.852C>T) c.805C>T (n.805C>T) n.1661C>T c.743C>T (p.Pro248Leu) c.872C>T (p.Pro291Leu) c.557C>T (p.Pro186Leu) c.554C>T (p.Pro185Leu) c.125C>T (p.Pro42Leu) n.519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741191C>A | CA488457354 | ADSS1 | c.741C>A (p.Pro247=) c.870C>A (p.Pro290=) c.853C>A (n.853C>A) c.806C>A (n.806C>A) n.1662C>A c.744C>A (p.Pro248=) c.873C>A (p.Pro291=) c.558C>A (p.Pro186=) c.555C>A (p.Pro185=) c.126C>A (p.Pro42=) n.518G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741191C= | CA2160932349 | ADSS1 | c.741C= (p.Pro247=) c.870C= (p.Pro290=) c.853C= (n.853C=) c.806C= (n.806C=) n.1662C= c.744C= (p.Pro248=) c.873C= (p.Pro291=) c.558C= (p.Pro186=) c.555C= (p.Pro185=) c.126C= (p.Pro42=) n.518G= | |
14 | g.104741191C>G | CA7373833 | ADSS1 | c.741C>G (p.Pro247=) c.870C>G (p.Pro290=) c.853C>G (n.853C>G) c.806C>G (n.806C>G) n.1662C>G c.744C>G (p.Pro248=) c.873C>G (p.Pro291=) c.558C>G (p.Pro186=) c.555C>G (p.Pro185=) c.126C>G (p.Pro42=) n.518G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741191C>T | CA488457355 | ADSS1 | c.741C>T (p.Pro247=) c.870C>T (p.Pro290=) c.853C>T (n.853C>T) c.806C>T (n.806C>T) n.1662C>T c.744C>T (p.Pro248=) c.873C>T (p.Pro291=) c.558C>T (p.Pro186=) c.555C>T (p.Pro185=) c.126C>T (p.Pro42=) n.518G>A | gnomAD v4 |
14 | g.104741192A>C | CA391240652 | ADSS1 | c.742A>C (p.Lys248Gln) c.871A>C (p.Lys291Gln) c.854A>C (n.854A>C) c.807A>C (n.807A>C) n.1663A>C c.745A>C (p.Lys249Gln) c.874A>C (p.Lys292Gln) c.559A>C (p.Lys187Gln) c.556A>C (p.Lys186Gln) c.127A>C (p.Lys43Gln) n.517T>G | |
14 | g.104741192A>G | CA391240654 | ADSS1 | c.742A>G (p.Lys248Glu) c.871A>G (p.Lys291Glu) c.854A>G (n.854A>G) c.807A>G (n.807A>G) n.1663A>G c.745A>G (p.Lys249Glu) c.874A>G (p.Lys292Glu) c.559A>G (p.Lys187Glu) c.556A>G (p.Lys186Glu) c.127A>G (p.Lys43Glu) n.517T>C | |
14 | g.104741192A>T | CA391240655 | ADSS1 | c.742A>T (p.Lys248Ter) c.871A>T (p.Lys291Ter) c.854A>T (n.854A>T) c.807A>T (n.807A>T) n.1663A>T c.745A>T (p.Lys249Ter) c.874A>T (p.Lys292Ter) c.559A>T (p.Lys187Ter) c.556A>T (p.Lys186Ter) c.127A>T (p.Lys43Ter) n.517T>A | |
14 | g.104741193A>C | CA391240656 | ADSS1 | c.743A>C (p.Lys248Thr) c.872A>C (p.Lys291Thr) c.855A>C (n.855A>C) c.808A>C (n.808A>C) n.1664A>C c.746A>C (p.Lys249Thr) c.875A>C (p.Lys292Thr) c.560A>C (p.Lys187Thr) c.557A>C (p.Lys186Thr) c.128A>C (p.Lys43Thr) n.516T>G | |
14 | g.104741193A>G | CA391240658 | ADSS1 | c.743A>G (p.Lys248Arg) c.872A>G (p.Lys291Arg) c.855A>G (n.855A>G) c.808A>G (n.808A>G) n.1664A>G c.746A>G (p.Lys249Arg) c.875A>G (p.Lys292Arg) c.560A>G (p.Lys187Arg) c.557A>G (p.Lys186Arg) c.128A>G (p.Lys43Arg) n.516T>C | |
14 | g.104741193A>T | CA391240660 | ADSS1 | c.743A>T (p.Lys248Met) c.872A>T (p.Lys291Met) c.855A>T (n.855A>T) c.808A>T (n.808A>T) n.1664A>T c.746A>T (p.Lys249Met) c.875A>T (p.Lys292Met) c.560A>T (p.Lys187Met) c.557A>T (p.Lys186Met) c.128A>T (p.Lys43Met) n.516T>A | |
14 | g.104741194G>A | CA488457356 | ADSS1 | c.744G>A (p.Lys248=) c.873G>A (p.Lys291=) c.856G>A (n.856G>A) c.809G>A (n.809G>A) n.1665G>A c.747G>A (p.Lys249=) c.876G>A (p.Lys292=) c.561G>A (p.Lys187=) c.558G>A (p.Lys186=) c.129G>A (p.Lys43=) n.515C>T | |
14 | g.104741194G>C | CA391240662 | ADSS1 | c.744G>C (p.Lys248Asn) c.873G>C (p.Lys291Asn) c.856G>C (n.856G>C) c.809G>C (n.809G>C) n.1665G>C c.747G>C (p.Lys249Asn) c.876G>C (p.Lys292Asn) c.561G>C (p.Lys187Asn) c.558G>C (p.Lys186Asn) c.129G>C (p.Lys43Asn) n.515C>G | |
14 | g.104741194G>T | CA391240665 | ADSS1 | c.744G>T (p.Lys248Asn) c.873G>T (p.Lys291Asn) c.856G>T (n.856G>T) c.809G>T (n.809G>T) n.1665G>T c.747G>T (p.Lys249Asn) c.876G>T (p.Lys292Asn) c.561G>T (p.Lys187Asn) c.558G>T (p.Lys186Asn) c.129G>T (p.Lys43Asn) n.515C>A | |
14 | g.104741195A>C | CA391240666 | ADSS1 | c.745A>C (p.Lys249Gln) c.874A>C (p.Lys292Gln) c.857A>C (n.857A>C) c.810A>C (n.810A>C) n.1666A>C c.748A>C (p.Lys250Gln) c.877A>C (p.Lys293Gln) c.562A>C (p.Lys188Gln) c.559A>C (p.Lys187Gln) c.130A>C (p.Lys44Gln) n.514T>G | |
14 | g.104741195A>G | CA391240667 | ADSS1 | c.745A>G (p.Lys249Glu) c.874A>G (p.Lys292Glu) c.857A>G (n.857A>G) c.810A>G (n.810A>G) n.1666A>G c.748A>G (p.Lys250Glu) c.877A>G (p.Lys293Glu) c.562A>G (p.Lys188Glu) c.559A>G (p.Lys187Glu) c.130A>G (p.Lys44Glu) n.514T>C | |
14 | g.104741195A>T | CA391240668 | ADSS1 | c.745A>T (p.Lys249Ter) c.874A>T (p.Lys292Ter) c.857A>T (n.857A>T) c.810A>T (n.810A>T) n.1666A>T c.748A>T (p.Lys250Ter) c.877A>T (p.Lys293Ter) c.562A>T (p.Lys188Ter) c.559A>T (p.Lys187Ter) c.130A>T (p.Lys44Ter) n.514T>A | |
14 | g.104741195_104741205delinsAAGATCCTGGT | CA2160932351 | ADSS1 | c.745_755delinsAAGATCCTGGT (p.Lys249=) c.874_884delinsAAGATCCTGGT (p.Lys292=) c.857_867delinsAAGATCCTGGT (n.857_867delinsAAGATCCTGGT) c.810_820delinsAAGATCCTGGT (n.810_820delinsAAGATCCTGGT) n.1666_1676delinsAAGATCCTGGT c.748_758delinsAAGATCCTGGT (p.Lys250=) c.877_887delinsAAGATCCTGGT (p.Lys293=) c.562_572delinsAAGATCCTGGT (p.Lys188=) c.559_569delinsAAGATCCTGGT (p.Lys187=) c.130_140delinsAAGATCCTGGT (p.Lys44=) n.504_514delinsACCAGGATCTT | |
14 | g.104741196A>C | CA391240675 | ADSS1 | c.746A>C (p.Lys249Thr) c.875A>C (p.Lys292Thr) c.858A>C (n.858A>C) c.811A>C (n.811A>C) n.1667A>C c.749A>C (p.Lys250Thr) c.878A>C (p.Lys293Thr) c.563A>C (p.Lys188Thr) c.560A>C (p.Lys187Thr) c.131A>C (p.Lys44Thr) n.513T>G | |
14 | g.104741196A>G | CA391240671 | ADSS1 | c.746A>G (p.Lys249Arg) c.875A>G (p.Lys292Arg) c.858A>G (n.858A>G) c.811A>G (n.811A>G) n.1667A>G c.749A>G (p.Lys250Arg) c.878A>G (p.Lys293Arg) c.563A>G (p.Lys188Arg) c.560A>G (p.Lys187Arg) c.131A>G (p.Lys44Arg) n.513T>C | |
14 | g.104741196A>T | CA391240672 | ADSS1 | c.746A>T (p.Lys249Met) c.875A>T (p.Lys292Met) c.858A>T (n.858A>T) c.811A>T (n.811A>T) n.1667A>T c.749A>T (p.Lys250Met) c.878A>T (p.Lys293Met) c.563A>T (p.Lys188Met) c.560A>T (p.Lys187Met) c.131A>T (p.Lys44Met) n.513T>A | |
14 | g.104741196_104741205del | CA488457357 | ADSS1 | c.746_755del (p.Lys249ArgfsTer19) c.875_884del (p.Lys292ArgfsTer19) c.858_867del (n.858_867del) c.811_820del (n.811_820del) n.1667_1676del c.749_758del (p.Lys250ArgfsTer19) c.878_887del (p.Lys293ArgfsTer19) c.563_572del (p.Lys188ArgfsTer19) c.560_569del (p.Lys187ArgfsTer19) c.131_140del (p.Lys44ArgfsTer19) n.504_513del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741197G>A | CA488457358 | ADSS1 | c.747G>A (p.Lys249=) c.876G>A (p.Lys292=) c.859G>A (n.859G>A) c.812G>A (n.812G>A) n.1668G>A c.750G>A (p.Lys250=) c.879G>A (p.Lys293=) c.564G>A (p.Lys188=) c.561G>A (p.Lys187=) c.132G>A (p.Lys44=) n.512C>T | |
14 | g.104741197G>C | CA391240677 | ADSS1 | c.747G>C (p.Lys249Asn) c.876G>C (p.Lys292Asn) c.859G>C (n.859G>C) c.812G>C (n.812G>C) n.1668G>C c.750G>C (p.Lys250Asn) c.879G>C (p.Lys293Asn) c.564G>C (p.Lys188Asn) c.561G>C (p.Lys187Asn) c.132G>C (p.Lys44Asn) n.512C>G | gnomAD v4 |
14 | g.104741197G>T | CA391240678 | ADSS1 | c.747G>T (p.Lys249Asn) c.876G>T (p.Lys292Asn) c.859G>T (n.859G>T) c.812G>T (n.812G>T) n.1668G>T c.750G>T (p.Lys250Asn) c.879G>T (p.Lys293Asn) c.564G>T (p.Lys188Asn) c.561G>T (p.Lys187Asn) c.132G>T (p.Lys44Asn) n.512C>A | |
14 | g.104741198A>C | CA391240679 | ADSS1 | c.748A>C (p.Ile250Leu) c.877A>C (p.Ile293Leu) c.860A>C (n.860A>C) c.813A>C (n.813A>C) n.1669A>C c.751A>C (p.Ile251Leu) c.880A>C (p.Ile294Leu) c.565A>C (p.Ile189Leu) c.562A>C (p.Ile188Leu) c.133A>C (p.Ile45Leu) n.511T>G | |
14 | g.104741198A>G | CA391240680 | ADSS1 | c.748A>G (p.Ile250Val) c.877A>G (p.Ile293Val) c.860A>G (n.860A>G) c.813A>G (n.813A>G) n.1669A>G c.751A>G (p.Ile251Val) c.880A>G (p.Ile294Val) c.565A>G (p.Ile189Val) c.562A>G (p.Ile188Val) c.133A>G (p.Ile45Val) n.511T>C | |
14 | g.104741198A>T | CA391240683 | ADSS1 | c.748A>T (p.Ile250Phe) c.877A>T (p.Ile293Phe) c.860A>T (n.860A>T) c.813A>T (n.813A>T) n.1669A>T c.751A>T (p.Ile251Phe) c.880A>T (p.Ile294Phe) c.565A>T (p.Ile189Phe) c.562A>T (p.Ile188Phe) c.133A>T (p.Ile45Phe) n.511T>A | gnomAD v4 |
14 | g.104741199T>A | CA391240685 | ADSS1 | c.749T>A (p.Ile250Asn) c.878T>A (p.Ile293Asn) c.861T>A (n.861T>A) c.814T>A (n.814T>A) n.1670T>A c.752T>A (p.Ile251Asn) c.881T>A (p.Ile294Asn) c.566T>A (p.Ile189Asn) c.563T>A (p.Ile188Asn) c.134T>A (p.Ile45Asn) n.510A>T | |
14 | g.104741199T>C | CA391240687 | ADSS1 | c.749T>C (p.Ile250Thr) c.878T>C (p.Ile293Thr) c.861T>C (n.861T>C) c.814T>C (n.814T>C) n.1670T>C c.752T>C (p.Ile251Thr) c.881T>C (p.Ile294Thr) c.566T>C (p.Ile189Thr) c.563T>C (p.Ile188Thr) c.134T>C (p.Ile45Thr) n.510A>G | gnomAD v4 |
14 | g.104741199T>G | CA391240689 | ADSS1 | c.749T>G (p.Ile250Ser) c.878T>G (p.Ile293Ser) c.861T>G (n.861T>G) c.814T>G (n.814T>G) n.1670T>G c.752T>G (p.Ile251Ser) c.881T>G (p.Ile294Ser) c.566T>G (p.Ile189Ser) c.563T>G (p.Ile188Ser) c.134T>G (p.Ile45Ser) n.510A>C | |
14 | g.104741200C>A | CA488457360 | ADSS1 | c.750C>A (p.Ile250=) c.879C>A (p.Ile293=) c.862C>A (n.862C>A) c.815C>A (n.815C>A) n.1671C>A c.753C>A (p.Ile251=) c.882C>A (p.Ile294=) c.567C>A (p.Ile189=) c.564C>A (p.Ile188=) c.135C>A (p.Ile45=) n.509G>T | gnomAD v4 |
14 | g.104741200C= | CA2160932355 | ADSS1 | c.750C= (p.Ile250=) c.879C= (p.Ile293=) c.862C= (n.862C=) c.815C= (n.815C=) n.1671C= c.753C= (p.Ile251=) c.882C= (p.Ile294=) c.567C= (p.Ile189=) c.564C= (p.Ile188=) c.135C= (p.Ile45=) n.509G= | |
14 | g.104741200C>G | CA391240690 | ADSS1 | c.750C>G (p.Ile250Met) c.879C>G (p.Ile293Met) c.862C>G (n.862C>G) c.815C>G (n.815C>G) n.1671C>G c.753C>G (p.Ile251Met) c.882C>G (p.Ile294Met) c.567C>G (p.Ile189Met) c.564C>G (p.Ile188Met) c.135C>G (p.Ile45Met) n.509G>C | ClinVar dbSNP gnomAD v4 |
14 | g.104741200C>T | CA488457359 | ADSS1 | c.750C>T (p.Ile250=) c.879C>T (p.Ile293=) c.862C>T (n.862C>T) c.815C>T (n.815C>T) n.1671C>T c.753C>T (p.Ile251=) c.882C>T (p.Ile294=) c.567C>T (p.Ile189=) c.564C>T (p.Ile188=) c.135C>T (p.Ile45=) n.509G>A | |
14 | g.104741201del | CA2626827702 | ADSS1 | c.751del (p.Leu251TrpfsTer20) c.880del (p.Leu294TrpfsTer20) c.863del (n.863del) c.816del (n.816del) n.1672del c.754del (p.Leu252TrpfsTer20) c.883del (p.Leu295TrpfsTer20) c.568del (p.Leu190TrpfsTer20) c.565del (p.Leu189TrpfsTer20) c.136del (p.Leu46TrpfsTer20) n.509del | gnomAD v4 |
14 | g.104741201C>A | CA391240693 | ADSS1 | c.751C>A (p.Leu251Met) c.880C>A (p.Leu294Met) c.863C>A (n.863C>A) c.816C>A (n.816C>A) n.1672C>A c.754C>A (p.Leu252Met) c.883C>A (p.Leu295Met) c.568C>A (p.Leu190Met) c.565C>A (p.Leu189Met) c.136C>A (p.Leu46Met) n.508G>T | |
14 | g.104741201C= | CA2160932359 | ADSS1 | c.751C= (p.Leu251=) c.880C= (p.Leu294=) c.863C= (n.863C=) c.816C= (n.816C=) n.1672C= c.754C= (p.Leu252=) c.883C= (p.Leu295=) c.568C= (p.Leu190=) c.565C= (p.Leu189=) c.136C= (p.Leu46=) n.508G= | |
14 | g.104741201C>G | CA7373834 | ADSS1 | c.751C>G (p.Leu251Val) c.880C>G (p.Leu294Val) c.863C>G (n.863C>G) c.816C>G (n.816C>G) n.1672C>G c.754C>G (p.Leu252Val) c.883C>G (p.Leu295Val) c.568C>G (p.Leu190Val) c.565C>G (p.Leu189Val) c.136C>G (p.Leu46Val) n.508G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741201C>T | CA488457361 | ADSS1 | c.751C>T (p.Leu251=) c.880C>T (p.Leu294=) c.863C>T (n.863C>T) c.816C>T (n.816C>T) n.1672C>T c.754C>T (p.Leu252=) c.883C>T (p.Leu295=) c.568C>T (p.Leu190=) c.565C>T (p.Leu189=) c.136C>T (p.Leu46=) n.508G>A | dbSNP |
14 | g.104741202T>A | CA391240699 | ADSS1 | c.752T>A (p.Leu251Gln) c.881T>A (p.Leu294Gln) c.864T>A (n.864T>A) c.817T>A (n.817T>A) n.1673T>A c.755T>A (p.Leu252Gln) c.884T>A (p.Leu295Gln) c.569T>A (p.Leu190Gln) c.566T>A (p.Leu189Gln) c.137T>A (p.Leu46Gln) n.507A>T | |
14 | g.104741202T>C | CA391240698 | ADSS1 | c.752T>C (p.Leu251Pro) c.881T>C (p.Leu294Pro) c.864T>C (n.864T>C) c.817T>C (n.817T>C) n.1673T>C c.755T>C (p.Leu252Pro) c.884T>C (p.Leu295Pro) c.569T>C (p.Leu190Pro) c.566T>C (p.Leu189Pro) c.137T>C (p.Leu46Pro) n.507A>G | |
14 | g.104741202T>G | CA391240696 | ADSS1 | c.752T>G (p.Leu251Arg) c.881T>G (p.Leu294Arg) c.864T>G (n.864T>G) c.817T>G (n.817T>G) n.1673T>G c.755T>G (p.Leu252Arg) c.884T>G (p.Leu295Arg) c.569T>G (p.Leu190Arg) c.566T>G (p.Leu189Arg) c.137T>G (p.Leu46Arg) n.507A>C | |
14 | g.104741203G>A | CA488457362 | ADSS1 | c.753G>A (p.Leu251=) c.882G>A (p.Leu294=) c.865G>A (n.865G>A) c.818G>A (n.818G>A) n.1674G>A c.756G>A (p.Leu252=) c.885G>A (p.Leu295=) c.570G>A (p.Leu190=) c.567G>A (p.Leu189=) c.138G>A (p.Leu46=) n.506C>T | |
14 | g.104741203G>C | CA488457363 | ADSS1 | c.753G>C (p.Leu251=) c.882G>C (p.Leu294=) c.865G>C (n.865G>C) c.818G>C (n.818G>C) n.1674G>C c.756G>C (p.Leu252=) c.885G>C (p.Leu295=) c.570G>C (p.Leu190=) c.567G>C (p.Leu189=) c.138G>C (p.Leu46=) n.506C>G | dbSNP gnomAD v4 |
14 | g.104741203G= | CA2160932362 | ADSS1 | c.753G= (p.Leu251=) c.882G= (p.Leu294=) c.865G= (n.865G=) c.818G= (n.818G=) n.1674G= c.756G= (p.Leu252=) c.885G= (p.Leu295=) c.570G= (p.Leu190=) c.567G= (p.Leu189=) c.138G= (p.Leu46=) n.506C= | |
14 | g.104741203G>T | CA488457364 | ADSS1 | c.753G>T (p.Leu251=) c.882G>T (p.Leu294=) c.865G>T (n.865G>T) c.818G>T (n.818G>T) n.1674G>T c.756G>T (p.Leu252=) c.885G>T (p.Leu295=) c.570G>T (p.Leu190=) c.567G>T (p.Leu189=) c.138G>T (p.Leu46=) n.506C>A | |
14 | g.104741204G>A | CA7373835 | ADSS1 | c.754G>A (p.Val252Met) c.883G>A (p.Val295Met) c.866G>A (n.866G>A) c.819G>A (n.819G>A) n.1675G>A c.757G>A (p.Val253Met) c.886G>A (p.Val296Met) c.571G>A (p.Val191Met) c.568G>A (p.Val190Met) c.139G>A (p.Val47Met) n.505C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741204G>C | CA391240703 | ADSS1 | c.754G>C (p.Val252Leu) c.883G>C (p.Val295Leu) c.866G>C (n.866G>C) c.819G>C (n.819G>C) n.1675G>C c.757G>C (p.Val253Leu) c.886G>C (p.Val296Leu) c.571G>C (p.Val191Leu) c.568G>C (p.Val190Leu) c.139G>C (p.Val47Leu) n.505C>G | |
14 | g.104741204G= | CA2160932367 | ADSS1 | c.754G= (p.Val252=) c.883G= (p.Val295=) c.866G= (n.866G=) c.819G= (n.819G=) n.1675G= c.757G= (p.Val253=) c.886G= (p.Val296=) c.571G= (p.Val191=) c.568G= (p.Val190=) c.139G= (p.Val47=) n.505C= | |
14 | g.104741204G>T | CA7373836 | ADSS1 | c.754G>T (p.Val252Leu) c.883G>T (p.Val295Leu) c.866G>T (n.866G>T) c.819G>T (n.819G>T) n.1675G>T c.757G>T (p.Val253Leu) c.886G>T (p.Val296Leu) c.571G>T (p.Val191Leu) c.568G>T (p.Val190Leu) c.139G>T (p.Val47Leu) n.505C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741205T>A | CA391240705 | ADSS1 | c.755T>A (p.Val252Glu) c.884T>A (p.Val295Glu) c.867T>A (n.867T>A) c.820T>A (n.820T>A) n.1676T>A c.758T>A (p.Val253Glu) c.887T>A (p.Val296Glu) c.572T>A (p.Val191Glu) c.569T>A (p.Val190Glu) c.140T>A (p.Val47Glu) n.504A>T | |
14 | g.104741205T>C | CA391240708 | ADSS1 | c.755T>C (p.Val252Ala) c.884T>C (p.Val295Ala) c.867T>C (n.867T>C) c.820T>C (n.820T>C) n.1676T>C c.758T>C (p.Val253Ala) c.887T>C (p.Val296Ala) c.572T>C (p.Val191Ala) c.569T>C (p.Val190Ala) c.140T>C (p.Val47Ala) n.504A>G | COSMIC COSMIC |
14 | g.104741205T>G | CA391240709 | ADSS1 | c.755T>G (p.Val252Gly) c.884T>G (p.Val295Gly) c.867T>G (n.867T>G) c.820T>G (n.820T>G) n.1676T>G c.758T>G (p.Val253Gly) c.887T>G (p.Val296Gly) c.572T>G (p.Val191Gly) c.569T>G (p.Val190Gly) c.140T>G (p.Val47Gly) n.504A>C | |
14 | g.104741206G>A | CA488457365 | ADSS1 | c.756G>A (p.Val252=) c.885G>A (p.Val295=) c.868G>A (n.868G>A) c.821G>A (n.821G>A) n.1677G>A c.759G>A (p.Val253=) c.888G>A (p.Val296=) c.573G>A (p.Val191=) c.570G>A (p.Val190=) c.141G>A (p.Val47=) n.503C>T | |
14 | g.104741206G>C | CA488457366 | ADSS1 | c.756G>C (p.Val252=) c.885G>C (p.Val295=) c.868G>C (n.868G>C) c.821G>C (n.821G>C) n.1677G>C c.759G>C (p.Val253=) c.888G>C (p.Val296=) c.573G>C (p.Val191=) c.570G>C (p.Val190=) c.141G>C (p.Val47=) n.503C>G | |
14 | g.104741206G>T | CA488457367 | ADSS1 | c.756G>T (p.Val252=) c.885G>T (p.Val295=) c.868G>T (n.868G>T) c.821G>T (n.821G>T) n.1677G>T c.759G>T (p.Val253=) c.888G>T (p.Val296=) c.573G>T (p.Val191=) c.570G>T (p.Val190=) c.141G>T (p.Val47=) n.503C>A | |
14 | g.104741207G>A | CA391240711 | ADSS1 | c.757G>A (p.Glu253Lys) c.886G>A (p.Glu296Lys) c.869G>A (n.869G>A) c.822G>A (n.822G>A) n.1678G>A c.760G>A (p.Glu254Lys) c.889G>A (p.Glu297Lys) c.574G>A (p.Glu192Lys) c.571G>A (p.Glu191Lys) c.142G>A (p.Glu48Lys) n.502C>T | |
14 | g.104741207G>C | CA391240712 | ADSS1 | c.757G>C (p.Glu253Gln) c.886G>C (p.Glu296Gln) c.869G>C (n.869G>C) c.822G>C (n.822G>C) n.1678G>C c.760G>C (p.Glu254Gln) c.889G>C (p.Glu297Gln) c.574G>C (p.Glu192Gln) c.571G>C (p.Glu191Gln) c.142G>C (p.Glu48Gln) n.502C>G | |
14 | g.104741207G>T | CA391240713 | ADSS1 | c.757G>T (p.Glu253Ter) c.886G>T (p.Glu296Ter) c.869G>T (n.869G>T) c.822G>T (n.822G>T) n.1678G>T c.760G>T (p.Glu254Ter) c.889G>T (p.Glu297Ter) c.574G>T (p.Glu192Ter) c.571G>T (p.Glu191Ter) c.142G>T (p.Glu48Ter) n.502C>A | |
14 | g.104741208A= | CA2160932369 | ADSS1 | c.758A= (p.Glu253=) c.887A= (p.Glu296=) c.870A= (n.870A=) c.823A= (n.823A=) n.1679A= c.761A= (p.Glu254=) c.890A= (p.Glu297=) c.575A= (p.Glu192=) c.572A= (p.Glu191=) c.143A= (p.Glu48=) n.501T= | |
14 | g.104741208A>C | CA391240715 | ADSS1 | c.758A>C (p.Glu253Ala) c.887A>C (p.Glu296Ala) c.870A>C (n.870A>C) c.823A>C (n.823A>C) n.1679A>C c.761A>C (p.Glu254Ala) c.890A>C (p.Glu297Ala) c.575A>C (p.Glu192Ala) c.572A>C (p.Glu191Ala) c.143A>C (p.Glu48Ala) n.501T>G | |
14 | g.104741208A>G | CA391240716 | ADSS1 | c.758A>G (p.Glu253Gly) c.887A>G (p.Glu296Gly) c.870A>G (n.870A>G) c.823A>G (n.823A>G) n.1679A>G c.761A>G (p.Glu254Gly) c.890A>G (p.Glu297Gly) c.575A>G (p.Glu192Gly) c.572A>G (p.Glu191Gly) c.143A>G (p.Glu48Gly) n.501T>C | dbSNP |
14 | g.104741208A>T | CA391240719 | ADSS1 | c.758A>T (p.Glu253Val) c.887A>T (p.Glu296Val) c.870A>T (n.870A>T) c.823A>T (n.823A>T) n.1679A>T c.761A>T (p.Glu254Val) c.890A>T (p.Glu297Val) c.575A>T (p.Glu192Val) c.572A>T (p.Glu191Val) c.143A>T (p.Glu48Val) n.501T>A | |
14 | g.104741208_104741209delinsAG | CA2160932370 | ADSS1 | c.758_759delinsAG (p.Glu253=) c.887_888delinsAG (p.Glu296=) c.870_871delinsAG (n.870_871delinsAG) c.823_824delinsAG (n.823_824delinsAG) n.1679_1680delinsAG c.761_762delinsAG (p.Glu254=) c.890_891delinsAG (p.Glu297=) c.575_576delinsAG (p.Glu192=) c.572_573delinsAG (p.Glu191=) c.143_144delinsAG (p.Glu48=) n.500_501delinsCT | |
14 | g.104741209G>A | CA488457368 | ADSS1 | c.759G>A (p.Glu253=) c.888G>A (p.Glu296=) c.871G>A (n.871G>A) c.824G>A (n.824G>A) n.1680G>A c.762G>A (p.Glu254=) c.891G>A (p.Glu297=) c.576G>A (p.Glu192=) c.573G>A (p.Glu191=) c.144G>A (p.Glu48=) n.500C>T | |
14 | g.104741209G>C | CA391240720 | ADSS1 | c.759G>C (p.Glu253Asp) c.888G>C (p.Glu296Asp) c.871G>C (n.871G>C) c.824G>C (n.824G>C) n.1680G>C c.762G>C (p.Glu254Asp) c.891G>C (p.Glu297Asp) c.576G>C (p.Glu192Asp) c.573G>C (p.Glu191Asp) c.144G>C (p.Glu48Asp) n.500C>G | |
14 | g.104741209G>T | CA391240721 | ADSS1 | c.759G>T (p.Glu253Asp) c.888G>T (p.Glu296Asp) c.871G>T (n.871G>T) c.824G>T (n.824G>T) n.1680G>T c.762G>T (p.Glu254Asp) c.891G>T (p.Glu297Asp) c.576G>T (p.Glu192Asp) c.573G>T (p.Glu191Asp) c.144G>T (p.Glu48Asp) n.500C>A | |
14 | g.104741211del | CA966919472 | ADSS1 | c.761del (p.Gly254ValfsTer17) c.890del (p.Gly297ValfsTer17) c.873del (n.873del) c.826del (n.826del) n.1682del c.764del (p.Gly255ValfsTer17) c.893del (p.Gly298ValfsTer17) c.578del (p.Gly193ValfsTer17) c.575del (p.Gly192ValfsTer17) c.146del (p.Gly49ValfsTer17) n.500del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741210G>A | CA7373837 | ADSS1 | c.760G>A (p.Gly254Ser) c.889G>A (p.Gly297Ser) c.872G>A (n.872G>A) c.825G>A (n.825G>A) n.1681G>A c.763G>A (p.Gly255Ser) c.892G>A (p.Gly298Ser) c.577G>A (p.Gly193Ser) c.574G>A (p.Gly192Ser) c.145G>A (p.Gly49Ser) n.499C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741210G>C | CA391240725 | ADSS1 | c.760G>C (p.Gly254Arg) c.889G>C (p.Gly297Arg) c.872G>C (n.872G>C) c.825G>C (n.825G>C) n.1681G>C c.763G>C (p.Gly255Arg) c.892G>C (p.Gly298Arg) c.577G>C (p.Gly193Arg) c.574G>C (p.Gly192Arg) c.145G>C (p.Gly49Arg) n.499C>G | |
14 | g.104741210G= | CA2160932373 | ADSS1 | c.760G= (p.Gly254=) c.889G= (p.Gly297=) c.872G= (n.872G=) c.825G= (n.825G=) n.1681G= c.763G= (p.Gly255=) c.892G= (p.Gly298=) c.577G= (p.Gly193=) c.574G= (p.Gly192=) c.145G= (p.Gly49=) n.499C= | |
14 | g.104741210G>T | CA391240724 | ADSS1 | c.760G>T (p.Gly254Cys) c.889G>T (p.Gly297Cys) c.872G>T (n.872G>T) c.825G>T (n.825G>T) n.1681G>T c.763G>T (p.Gly255Cys) c.892G>T (p.Gly298Cys) c.577G>T (p.Gly193Cys) c.574G>T (p.Gly192Cys) c.145G>T (p.Gly49Cys) n.499C>A | |
14 | g.104741211G>A | CA391240729 | ADSS1 | c.761G>A (p.Gly254Asp) c.890G>A (p.Gly297Asp) c.873G>A (n.873G>A) c.826G>A (n.826G>A) n.1682G>A c.764G>A (p.Gly255Asp) c.893G>A (p.Gly298Asp) c.578G>A (p.Gly193Asp) c.575G>A (p.Gly192Asp) c.146G>A (p.Gly49Asp) n.498C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741211G>C | CA391240730 | ADSS1 | c.761G>C (p.Gly254Ala) c.890G>C (p.Gly297Ala) c.873G>C (n.873G>C) c.826G>C (n.826G>C) n.1682G>C c.764G>C (p.Gly255Ala) c.893G>C (p.Gly298Ala) c.578G>C (p.Gly193Ala) c.575G>C (p.Gly192Ala) c.146G>C (p.Gly49Ala) n.498C>G | |
14 | g.104741211G= | CA2160932376 | ADSS1 | c.761G= (p.Gly254=) c.890G= (p.Gly297=) c.873G= (n.873G=) c.826G= (n.826G=) n.1682G= c.764G= (p.Gly255=) c.893G= (p.Gly298=) c.578G= (p.Gly193=) c.575G= (p.Gly192=) c.146G= (p.Gly49=) n.498C= | |
14 | g.104741211G>T | CA391240731 | ADSS1 | c.761G>T (p.Gly254Val) c.890G>T (p.Gly297Val) c.873G>T (n.873G>T) c.826G>T (n.826G>T) n.1682G>T c.764G>T (p.Gly255Val) c.893G>T (p.Gly298Val) c.578G>T (p.Gly193Val) c.575G>T (p.Gly192Val) c.146G>T (p.Gly49Val) n.498C>A | |
14 | g.104741212T>A | CA488457369 | ADSS1 | c.762T>A (p.Gly254=) c.891T>A (p.Gly297=) c.874T>A (n.874T>A) c.827T>A (n.827T>A) n.1683T>A c.765T>A (p.Gly255=) c.894T>A (p.Gly298=) c.579T>A (p.Gly193=) c.576T>A (p.Gly192=) c.147T>A (p.Gly49=) n.497A>T | |
14 | g.104741212T>C | CA488457370 | ADSS1 | c.762T>C (p.Gly254=) c.891T>C (p.Gly297=) c.874T>C (n.874T>C) c.827T>C (n.827T>C) n.1683T>C c.765T>C (p.Gly255=) c.894T>C (p.Gly298=) c.579T>C (p.Gly193=) c.576T>C (p.Gly192=) c.147T>C (p.Gly49=) n.497A>G | |
14 | g.104741212T>G | CA488457371 | ADSS1 | c.762T>G (p.Gly254=) c.891T>G (p.Gly297=) c.874T>G (n.874T>G) c.827T>G (n.827T>G) n.1683T>G c.765T>G (p.Gly255=) c.894T>G (p.Gly298=) c.579T>G (p.Gly193=) c.576T>G (p.Gly192=) c.147T>G (p.Gly49=) n.497A>C | dbSNP |
14 | g.104741212T= | CA2160932378 | ADSS1 | c.762T= (p.Gly254=) c.891T= (p.Gly297=) c.874T= (n.874T=) c.827T= (n.827T=) n.1683T= c.765T= (p.Gly255=) c.894T= (p.Gly298=) c.579T= (p.Gly193=) c.576T= (p.Gly192=) c.147T= (p.Gly49=) n.497A= | |
14 | g.104741213G>A | CA391240733 | ADSS1 | c.763G>A (p.Ala255Thr) c.892G>A (p.Ala298Thr) c.875G>A (n.875G>A) c.828G>A (n.828G>A) n.1684G>A c.766G>A (p.Ala256Thr) c.895G>A (p.Ala299Thr) c.580G>A (p.Ala194Thr) c.577G>A (p.Ala193Thr) c.148G>A (p.Ala50Thr) n.496C>T | gnomAD v4 |
14 | g.104741213G>C | CA391240735 | ADSS1 | c.763G>C (p.Ala255Pro) c.892G>C (p.Ala298Pro) c.875G>C (n.875G>C) c.828G>C (n.828G>C) n.1684G>C c.766G>C (p.Ala256Pro) c.895G>C (p.Ala299Pro) c.580G>C (p.Ala194Pro) c.577G>C (p.Ala193Pro) c.148G>C (p.Ala50Pro) n.496C>G | |
14 | g.104741213G>T | CA391240737 | ADSS1 | c.763G>T (p.Ala255Ser) c.892G>T (p.Ala298Ser) c.875G>T (n.875G>T) c.828G>T (n.828G>T) n.1684G>T c.766G>T (p.Ala256Ser) c.895G>T (p.Ala299Ser) c.580G>T (p.Ala194Ser) c.577G>T (p.Ala193Ser) c.148G>T (p.Ala50Ser) n.496C>A | |
14 | g.104741214C>A | CA391240739 | ADSS1 | c.764C>A (p.Ala255Asp) c.893C>A (p.Ala298Asp) c.876C>A (n.876C>A) c.829C>A (n.829C>A) n.1685C>A c.767C>A (p.Ala256Asp) c.896C>A (p.Ala299Asp) c.581C>A (p.Ala194Asp) c.578C>A (p.Ala193Asp) c.149C>A (p.Ala50Asp) n.495G>T | gnomAD v4 |
14 | g.104741214C>G | CA391240742 | ADSS1 | c.764C>G (p.Ala255Gly) c.893C>G (p.Ala298Gly) c.876C>G (n.876C>G) c.829C>G (n.829C>G) n.1685C>G c.767C>G (p.Ala256Gly) c.896C>G (p.Ala299Gly) c.581C>G (p.Ala194Gly) c.578C>G (p.Ala193Gly) c.149C>G (p.Ala50Gly) n.495G>C | gnomAD v4 |
14 | g.104741214C>T | CA391240743 | ADSS1 | c.764C>T (p.Ala255Val) c.893C>T (p.Ala298Val) c.876C>T (n.876C>T) c.829C>T (n.829C>T) n.1685C>T c.767C>T (p.Ala256Val) c.896C>T (p.Ala299Val) c.581C>T (p.Ala194Val) c.578C>T (p.Ala193Val) c.149C>T (p.Ala50Val) n.495G>A | gnomAD v4 |
14 | g.104741215C>A | CA488457374 | ADSS1 | c.765C>A (p.Ala255=) c.894C>A (p.Ala298=) c.877C>A (n.877C>A) c.830C>A (n.830C>A) n.1686C>A c.768C>A (p.Ala256=) c.897C>A (p.Ala299=) c.582C>A (p.Ala194=) c.579C>A (p.Ala193=) c.150C>A (p.Ala50=) n.494G>T | gnomAD v4 |
14 | g.104741215C>G | CA488457372 | ADSS1 | c.765C>G (p.Ala255=) c.894C>G (p.Ala298=) c.877C>G (n.877C>G) c.830C>G (n.830C>G) n.1686C>G c.768C>G (p.Ala256=) c.897C>G (p.Ala299=) c.582C>G (p.Ala194=) c.579C>G (p.Ala193=) c.150C>G (p.Ala50=) n.494G>C | |
14 | g.104741215C>T | CA488457373 | ADSS1 | c.765C>T (p.Ala255=) c.894C>T (p.Ala298=) c.877C>T (n.877C>T) c.830C>T (n.830C>T) n.1686C>T c.768C>T (p.Ala256=) c.897C>T (p.Ala299=) c.582C>T (p.Ala194=) c.579C>T (p.Ala193=) c.150C>T (p.Ala50=) n.494G>A | gnomAD v4 |
14 | g.104741216A>C | CA391240746 | ADSS1 | c.766A>C (p.Asn256His) c.895A>C (p.Asn299His) c.878A>C (n.878A>C) c.831A>C (n.831A>C) n.1687A>C c.769A>C (p.Asn257His) c.898A>C (p.Asn300His) c.583A>C (p.Asn195His) c.580A>C (p.Asn194His) c.151A>C (p.Asn51His) n.493T>G | |
14 | g.104741216A>G | CA391240748 | ADSS1 | c.766A>G (p.Asn256Asp) c.895A>G (p.Asn299Asp) c.878A>G (n.878A>G) c.831A>G (n.831A>G) n.1687A>G c.769A>G (p.Asn257Asp) c.898A>G (p.Asn300Asp) c.583A>G (p.Asn195Asp) c.580A>G (p.Asn194Asp) c.151A>G (p.Asn51Asp) n.493T>C | gnomAD v4 |
14 | g.104741216A>T | CA391240750 | ADSS1 | c.766A>T (p.Asn256Tyr) c.895A>T (p.Asn299Tyr) c.878A>T (n.878A>T) c.831A>T (n.831A>T) n.1687A>T c.769A>T (p.Asn257Tyr) c.898A>T (p.Asn300Tyr) c.583A>T (p.Asn195Tyr) c.580A>T (p.Asn194Tyr) c.151A>T (p.Asn51Tyr) n.493T>A | |
14 | g.104741217A= | CA2160932381 | ADSS1 | c.767A= (p.Asn256=) c.896A= (p.Asn299=) c.879A= (n.879A=) c.832A= (n.832A=) n.1688A= c.770A= (p.Asn257=) c.899A= (p.Asn300=) c.584A= (p.Asn195=) c.581A= (p.Asn194=) c.152A= (p.Asn51=) n.492T= | |
14 | g.104741217A>C | CA391240754 | ADSS1 | c.767A>C (p.Asn256Thr) c.896A>C (p.Asn299Thr) c.879A>C (n.879A>C) c.832A>C (n.832A>C) n.1688A>C c.770A>C (p.Asn257Thr) c.899A>C (p.Asn300Thr) c.584A>C (p.Asn195Thr) c.581A>C (p.Asn194Thr) c.152A>C (p.Asn51Thr) n.492T>G | |
14 | g.104741217A>G | CA391240753 | ADSS1 | c.767A>G (p.Asn256Ser) c.896A>G (p.Asn299Ser) c.879A>G (n.879A>G) c.832A>G (n.832A>G) n.1688A>G c.770A>G (p.Asn257Ser) c.899A>G (p.Asn300Ser) c.584A>G (p.Asn195Ser) c.581A>G (p.Asn194Ser) c.152A>G (p.Asn51Ser) n.492T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741217A>T | CA391240752 | ADSS1 | c.767A>T (p.Asn256Ile) c.896A>T (p.Asn299Ile) c.879A>T (n.879A>T) c.832A>T (n.832A>T) n.1688A>T c.770A>T (p.Asn257Ile) c.899A>T (p.Asn300Ile) c.584A>T (p.Asn195Ile) c.581A>T (p.Asn194Ile) c.152A>T (p.Asn51Ile) n.492T>A | gnomAD v4 |
14 | g.104741218C>A | CA391240759 | ADSS1 | c.768C>A (p.Asn256Lys) c.897C>A (p.Asn299Lys) c.880C>A (n.880C>A) c.833C>A (n.833C>A) n.1689C>A c.771C>A (p.Asn257Lys) c.900C>A (p.Asn300Lys) c.585C>A (p.Asn195Lys) c.582C>A (p.Asn194Lys) c.153C>A (p.Asn51Lys) n.491G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741218C= | CA2160932387 | ADSS1 | c.768C= (p.Asn256=) c.897C= (p.Asn299=) c.880C= (n.880C=) c.833C= (n.833C=) n.1689C= c.771C= (p.Asn257=) c.900C= (p.Asn300=) c.585C= (p.Asn195=) c.582C= (p.Asn194=) c.153C= (p.Asn51=) n.491G= | |
14 | g.104741218C>G | CA391240757 | ADSS1 | c.768C>G (p.Asn256Lys) c.897C>G (p.Asn299Lys) c.880C>G (n.880C>G) c.833C>G (n.833C>G) n.1689C>G c.771C>G (p.Asn257Lys) c.900C>G (p.Asn300Lys) c.585C>G (p.Asn195Lys) c.582C>G (p.Asn194Lys) c.153C>G (p.Asn51Lys) n.491G>C | |
14 | g.104741218C>T | CA7373838 | ADSS1 | c.768C>T (p.Asn256=) c.897C>T (p.Asn299=) c.880C>T (n.880C>T) c.833C>T (n.833C>T) n.1689C>T c.771C>T (p.Asn257=) c.900C>T (p.Asn300=) c.585C>T (p.Asn195=) c.582C>T (p.Asn194=) c.153C>T (p.Asn51=) n.491G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741219G>A | CA7373839 | ADSS1 | c.769G>A (p.Ala257Thr) c.898G>A (p.Ala300Thr) c.881G>A (n.881G>A) c.834G>A (n.834G>A) n.1690G>A c.772G>A (p.Ala258Thr) c.901G>A (p.Ala301Thr) c.586G>A (p.Ala196Thr) c.583G>A (p.Ala195Thr) c.154G>A (p.Ala52Thr) n.490C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741219G>C | CA391240761 | ADSS1 | c.769G>C (p.Ala257Pro) c.898G>C (p.Ala300Pro) c.881G>C (n.881G>C) c.834G>C (n.834G>C) n.1690G>C c.772G>C (p.Ala258Pro) c.901G>C (p.Ala301Pro) c.586G>C (p.Ala196Pro) c.583G>C (p.Ala195Pro) c.154G>C (p.Ala52Pro) n.490C>G | |
14 | g.104741219G= | CA2160932391 | ADSS1 | c.769G= (p.Ala257=) c.898G= (p.Ala300=) c.881G= (n.881G=) c.834G= (n.834G=) n.1690G= c.772G= (p.Ala258=) c.901G= (p.Ala301=) c.586G= (p.Ala196=) c.583G= (p.Ala195=) c.154G= (p.Ala52=) n.490C= | |
14 | g.104741219G>T | CA391240764 | ADSS1 | c.769G>T (p.Ala257Ser) c.898G>T (p.Ala300Ser) c.881G>T (n.881G>T) c.834G>T (n.834G>T) n.1690G>T c.772G>T (p.Ala258Ser) c.901G>T (p.Ala301Ser) c.586G>T (p.Ala196Ser) c.583G>T (p.Ala195Ser) c.154G>T (p.Ala52Ser) n.490C>A | |
14 | g.104741220C>A | CA391240765 | ADSS1 | c.770C>A (p.Ala257Asp) c.899C>A (p.Ala300Asp) c.882C>A (n.882C>A) c.835C>A (n.835C>A) n.1691C>A c.773C>A (p.Ala258Asp) c.902C>A (p.Ala301Asp) c.587C>A (p.Ala196Asp) c.584C>A (p.Ala195Asp) c.155C>A (p.Ala52Asp) n.489G>T | gnomAD v4 |
14 | g.104741220C>G | CA391240767 | ADSS1 | c.770C>G (p.Ala257Gly) c.899C>G (p.Ala300Gly) c.882C>G (n.882C>G) c.835C>G (n.835C>G) n.1691C>G c.773C>G (p.Ala258Gly) c.902C>G (p.Ala301Gly) c.587C>G (p.Ala196Gly) c.584C>G (p.Ala195Gly) c.155C>G (p.Ala52Gly) n.489G>C | |
14 | g.104741220C>T | CA391240770 | ADSS1 | c.770C>T (p.Ala257Val) c.899C>T (p.Ala300Val) c.882C>T (n.882C>T) c.835C>T (n.835C>T) n.1691C>T c.773C>T (p.Ala258Val) c.902C>T (p.Ala301Val) c.587C>T (p.Ala196Val) c.584C>T (p.Ala195Val) c.155C>T (p.Ala52Val) n.489G>A | |
14 | g.104741221C>A | CA488457375 | ADSS1 | c.771C>A (p.Ala257=) c.900C>A (p.Ala300=) c.883C>A (n.883C>A) c.836C>A (n.836C>A) n.1692C>A c.774C>A (p.Ala258=) c.903C>A (p.Ala301=) c.588C>A (p.Ala196=) c.585C>A (p.Ala195=) c.156C>A (p.Ala52=) n.488G>T | gnomAD v4 |
14 | g.104741221C= | CA2160932396 | ADSS1 | c.771C= (p.Ala257=) c.900C= (p.Ala300=) c.883C= (n.883C=) c.836C= (n.836C=) n.1692C= c.774C= (p.Ala258=) c.903C= (p.Ala301=) c.588C= (p.Ala196=) c.585C= (p.Ala195=) c.156C= (p.Ala52=) n.488G= | |
14 | g.104741221C>G | CA488457376 | ADSS1 | c.771C>G (p.Ala257=) c.900C>G (p.Ala300=) c.883C>G (n.883C>G) c.836C>G (n.836C>G) n.1692C>G c.774C>G (p.Ala258=) c.903C>G (p.Ala301=) c.588C>G (p.Ala196=) c.585C>G (p.Ala195=) c.156C>G (p.Ala52=) n.488G>C | |
14 | g.104741221C>T | CA7373840 | ADSS1 | c.771C>T (p.Ala257=) c.900C>T (p.Ala300=) c.883C>T (n.883C>T) c.836C>T (n.836C>T) n.1692C>T c.774C>T (p.Ala258=) c.903C>T (p.Ala301=) c.588C>T (p.Ala196=) c.585C>T (p.Ala195=) c.156C>T (p.Ala52=) n.488G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.104741222G>A | CA7373841 | ADSS1 | c.772G>A (p.Ala258Thr) c.901G>A (p.Ala301Thr) c.884G>A (n.884G>A) c.837G>A (n.837G>A) n.1693G>A c.775G>A (p.Ala259Thr) c.904G>A (p.Ala302Thr) c.589G>A (p.Ala197Thr) c.586G>A (p.Ala196Thr) c.157G>A (p.Ala53Thr) n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741222G>C | CA391240773 | ADSS1 | c.772G>C (p.Ala258Pro) c.901G>C (p.Ala301Pro) c.884G>C (n.884G>C) c.837G>C (n.837G>C) n.1693G>C c.775G>C (p.Ala259Pro) c.904G>C (p.Ala302Pro) c.589G>C (p.Ala197Pro) c.586G>C (p.Ala196Pro) c.157G>C (p.Ala53Pro) n.487C>G | |
14 | g.104741222G= | CA2160932399 | ADSS1 | c.772G= (p.Ala258=) c.901G= (p.Ala301=) c.884G= (n.884G=) c.837G= (n.837G=) n.1693G= c.775G= (p.Ala259=) c.904G= (p.Ala302=) c.589G= (p.Ala197=) c.586G= (p.Ala196=) c.157G= (p.Ala53=) n.487C= | |
14 | g.104741222G>T | CA391240775 | ADSS1 | c.772G>T (p.Ala258Ser) c.901G>T (p.Ala301Ser) c.884G>T (n.884G>T) c.837G>T (n.837G>T) n.1693G>T c.775G>T (p.Ala259Ser) c.904G>T (p.Ala302Ser) c.589G>T (p.Ala197Ser) c.586G>T (p.Ala196Ser) c.157G>T (p.Ala53Ser) n.487C>A | |
14 | g.104741223C>A | CA391240780 | ADSS1 | c.773C>A (p.Ala258Asp) c.902C>A (p.Ala301Asp) c.885C>A (n.885C>A) c.838C>A (n.838C>A) n.1694C>A c.776C>A (p.Ala259Asp) c.905C>A (p.Ala302Asp) c.590C>A (p.Ala197Asp) c.587C>A (p.Ala196Asp) c.158C>A (p.Ala53Asp) n.486G>T | gnomAD v4 |
14 | g.104741223C= | CA2160932401 | ADSS1 | c.773C= (p.Ala258=) c.902C= (p.Ala301=) c.885C= (n.885C=) c.838C= (n.838C=) n.1694C= c.776C= (p.Ala259=) c.905C= (p.Ala302=) c.590C= (p.Ala197=) c.587C= (p.Ala196=) c.158C= (p.Ala53=) n.486G= | |
14 | g.104741223C>G | CA391240781 | ADSS1 | c.773C>G (p.Ala258Gly) c.902C>G (p.Ala301Gly) c.885C>G (n.885C>G) c.838C>G (n.838C>G) n.1694C>G c.776C>G (p.Ala259Gly) c.905C>G (p.Ala302Gly) c.590C>G (p.Ala197Gly) c.587C>G (p.Ala196Gly) c.158C>G (p.Ala53Gly) n.486G>C | |
14 | g.104741223C>T | CA391240778 | ADSS1 | c.773C>T (p.Ala258Val) c.902C>T (p.Ala301Val) c.885C>T (n.885C>T) c.838C>T (n.838C>T) n.1694C>T c.776C>T (p.Ala259Val) c.905C>T (p.Ala302Val) c.590C>T (p.Ala197Val) c.587C>T (p.Ala196Val) c.158C>T (p.Ala53Val) n.486G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741224C>A | CA488457377 | ADSS1 | c.774C>A (p.Ala258=) c.903C>A (p.Ala301=) c.886C>A (n.886C>A) c.839C>A (n.839C>A) n.1695C>A c.777C>A (p.Ala259=) c.906C>A (p.Ala302=) c.591C>A (p.Ala197=) c.588C>A (p.Ala196=) c.159C>A (p.Ala53=) n.485G>T | |
14 | g.104741224C= | CA2160932403 | ADSS1 | c.774C= (p.Ala258=) c.903C= (p.Ala301=) c.886C= (n.886C=) c.839C= (n.839C=) n.1695C= c.777C= (p.Ala259=) c.906C= (p.Ala302=) c.591C= (p.Ala197=) c.588C= (p.Ala196=) c.159C= (p.Ala53=) n.485G= | |
14 | g.104741224C>G | CA488457378 | ADSS1 | c.774C>G (p.Ala258=) c.903C>G (p.Ala301=) c.886C>G (n.886C>G) c.839C>G (n.839C>G) n.1695C>G c.777C>G (p.Ala259=) c.906C>G (p.Ala302=) c.591C>G (p.Ala197=) c.588C>G (p.Ala196=) c.159C>G (p.Ala53=) n.485G>C | |
14 | g.104741224C>T | CA7373842 | ADSS1 | c.774C>T (p.Ala258=) c.903C>T (p.Ala301=) c.886C>T (n.886C>T) c.839C>T (n.839C>T) n.1695C>T c.777C>T (p.Ala259=) c.906C>T (p.Ala302=) c.591C>T (p.Ala197=) c.588C>T (p.Ala196=) c.159C>T (p.Ala53=) n.485G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741225C>A | CA391240783 | ADSS1 | c.775C>A (p.Leu259Ile) c.904C>A (p.Leu302Ile) c.887C>A (n.887C>A) c.840C>A (n.840C>A) n.1696C>A c.778C>A (p.Leu260Ile) c.907C>A (p.Leu303Ile) c.592C>A (p.Leu198Ile) c.589C>A (p.Leu197Ile) c.160C>A (p.Leu54Ile) n.484G>T | gnomAD v4 COSMIC |
14 | g.104741225C>G | CA391240786 | ADSS1 | c.775C>G (p.Leu259Val) c.904C>G (p.Leu302Val) c.887C>G (n.887C>G) c.840C>G (n.840C>G) n.1696C>G c.778C>G (p.Leu260Val) c.907C>G (p.Leu303Val) c.592C>G (p.Leu198Val) c.589C>G (p.Leu197Val) c.160C>G (p.Leu54Val) n.484G>C | |
14 | g.104741225C>T | CA391240787 | ADSS1 | c.775C>T (p.Leu259Phe) c.904C>T (p.Leu302Phe) c.887C>T (n.887C>T) c.840C>T (n.840C>T) n.1696C>T c.778C>T (p.Leu260Phe) c.907C>T (p.Leu303Phe) c.592C>T (p.Leu198Phe) c.589C>T (p.Leu197Phe) c.160C>T (p.Leu54Phe) n.484G>A | |
14 | g.104741226T>A | CA391240792 | ADSS1 | c.776T>A (p.Leu259His) c.905T>A (p.Leu302His) c.888T>A (n.888T>A) c.841T>A (n.841T>A) n.1697T>A c.779T>A (p.Leu260His) c.908T>A (p.Leu303His) c.593T>A (p.Leu198His) c.590T>A (p.Leu197His) c.161T>A (p.Leu54His) n.483A>T | |
14 | g.104741226T>C | CA391240791 | ADSS1 | c.776T>C (p.Leu259Pro) c.905T>C (p.Leu302Pro) c.888T>C (n.888T>C) c.841T>C (n.841T>C) n.1697T>C c.779T>C (p.Leu260Pro) c.908T>C (p.Leu303Pro) c.593T>C (p.Leu198Pro) c.590T>C (p.Leu197Pro) c.161T>C (p.Leu54Pro) n.483A>G | gnomAD v4 |
14 | g.104741226T>G | CA391240788 | ADSS1 | c.776T>G (p.Leu259Arg) c.905T>G (p.Leu302Arg) c.888T>G (n.888T>G) c.841T>G (n.841T>G) n.1697T>G c.779T>G (p.Leu260Arg) c.908T>G (p.Leu303Arg) c.593T>G (p.Leu198Arg) c.590T>G (p.Leu197Arg) c.161T>G (p.Leu54Arg) n.483A>C | |
14 | g.104741227C>A | CA488457379 | ADSS1 | c.777C>A (p.Leu259=) c.906C>A (p.Leu302=) c.889C>A (n.889C>A) c.842C>A (n.842C>A) n.1698C>A c.780C>A (p.Leu260=) c.909C>A (p.Leu303=) c.594C>A (p.Leu198=) c.591C>A (p.Leu197=) c.162C>A (p.Leu54=) n.482G>T | |
14 | g.104741227C>G | CA488457380 | ADSS1 | c.777C>G (p.Leu259=) c.906C>G (p.Leu302=) c.889C>G (n.889C>G) c.842C>G (n.842C>G) n.1698C>G c.780C>G (p.Leu260=) c.909C>G (p.Leu303=) c.594C>G (p.Leu198=) c.591C>G (p.Leu197=) c.162C>G (p.Leu54=) n.482G>C | |
14 | g.104741227C>T | CA488457381 | ADSS1 | c.777C>T (p.Leu259=) c.906C>T (p.Leu302=) c.889C>T (n.889C>T) c.842C>T (n.842C>T) n.1698C>T c.780C>T (p.Leu260=) c.909C>T (p.Leu303=) c.594C>T (p.Leu198=) c.591C>T (p.Leu197=) c.162C>T (p.Leu54=) n.482G>A | gnomAD v4 |
14 | g.104741228C>A | CA391240794 | ADSS1 | c.778C>A (p.Leu260Ile) c.907C>A (p.Leu303Ile) c.890C>A (n.890C>A) c.843C>A (n.843C>A) n.1699C>A c.781C>A (p.Leu261Ile) c.910C>A (p.Leu304Ile) c.595C>A (p.Leu199Ile) c.592C>A (p.Leu198Ile) c.163C>A (p.Leu55Ile) n.481G>T | gnomAD v4 |
14 | g.104741228C= | CA2160932406 | ADSS1 | c.778C= (p.Leu260=) c.907C= (p.Leu303=) c.890C= (n.890C=) c.843C= (n.843C=) n.1699C= c.781C= (p.Leu261=) c.910C= (p.Leu304=) c.595C= (p.Leu199=) c.592C= (p.Leu198=) c.163C= (p.Leu55=) n.481G= | |
14 | g.104741228C>G | CA391240795 | ADSS1 | c.778C>G (p.Leu260Val) c.907C>G (p.Leu303Val) c.890C>G (n.890C>G) c.843C>G (n.843C>G) n.1699C>G c.781C>G (p.Leu261Val) c.910C>G (p.Leu304Val) c.595C>G (p.Leu199Val) c.592C>G (p.Leu198Val) c.163C>G (p.Leu55Val) n.481G>C | |
14 | g.104741228C>T | CA391240798 | ADSS1 | c.778C>T (p.Leu260Phe) c.907C>T (p.Leu303Phe) c.890C>T (n.890C>T) c.843C>T (n.843C>T) n.1699C>T c.781C>T (p.Leu261Phe) c.910C>T (p.Leu304Phe) c.595C>T (p.Leu199Phe) c.592C>T (p.Leu198Phe) c.163C>T (p.Leu55Phe) n.481G>A | dbSNP gnomAD v2 |
14 | g.104741229T>A | CA391240800 | ADSS1 | c.779T>A (p.Leu260His) c.908T>A (p.Leu303His) c.891T>A (n.891T>A) c.844T>A (n.844T>A) n.1700T>A c.782T>A (p.Leu261His) c.911T>A (p.Leu304His) c.596T>A (p.Leu199His) c.593T>A (p.Leu198His) c.164T>A (p.Leu55His) n.480A>T | |
14 | g.104741229T>C | CA391240801 | ADSS1 | c.779T>C (p.Leu260Pro) c.908T>C (p.Leu303Pro) c.891T>C (n.891T>C) c.844T>C (n.844T>C) n.1700T>C c.782T>C (p.Leu261Pro) c.911T>C (p.Leu304Pro) c.596T>C (p.Leu199Pro) c.593T>C (p.Leu198Pro) c.164T>C (p.Leu55Pro) n.480A>G | |
14 | g.104741229T>G | CA391240802 | ADSS1 | c.779T>G (p.Leu260Arg) c.908T>G (p.Leu303Arg) c.891T>G (n.891T>G) c.844T>G (n.844T>G) n.1700T>G c.782T>G (p.Leu261Arg) c.911T>G (p.Leu304Arg) c.596T>G (p.Leu199Arg) c.593T>G (p.Leu198Arg) c.164T>G (p.Leu55Arg) n.480A>C | |
14 | g.104741230C>A | CA488457382 | ADSS1 | c.780C>A (p.Leu260=) c.909C>A (p.Leu303=) c.892C>A (n.892C>A) c.845C>A (n.845C>A) n.1701C>A c.783C>A (p.Leu261=) c.912C>A (p.Leu304=) c.597C>A (p.Leu199=) c.594C>A (p.Leu198=) c.165C>A (p.Leu55=) n.479G>T | dbSNP gnomAD v4 |
14 | g.104741230C= | CA2160932408 | ADSS1 | c.780C= (p.Leu260=) c.909C= (p.Leu303=) c.892C= (n.892C=) c.845C= (n.845C=) n.1701C= c.783C= (p.Leu261=) c.912C= (p.Leu304=) c.597C= (p.Leu199=) c.594C= (p.Leu198=) c.165C= (p.Leu55=) n.479G= | |
14 | g.104741230C>G | CA7373843 | ADSS1 | c.780C>G (p.Leu260=) c.909C>G (p.Leu303=) c.892C>G (n.892C>G) c.845C>G (n.845C>G) n.1701C>G c.783C>G (p.Leu261=) c.912C>G (p.Leu304=) c.597C>G (p.Leu199=) c.594C>G (p.Leu198=) c.165C>G (p.Leu55=) n.479G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741230C>T | CA488457383 | ADSS1 | c.780C>T (p.Leu260=) c.909C>T (p.Leu303=) c.892C>T (n.892C>T) c.845C>T (n.845C>T) n.1701C>T c.783C>T (p.Leu261=) c.912C>T (p.Leu304=) c.597C>T (p.Leu199=) c.594C>T (p.Leu198=) c.165C>T (p.Leu55=) n.479G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.104741231G>A | CA7373844 | ADSS1 | c.781G>A (p.Asp261Asn) c.910G>A (p.Asp304Asn) c.893G>A (n.893G>A) c.846G>A (n.846G>A) n.1702G>A c.784G>A (p.Asp262Asn) c.913G>A (p.Asp305Asn) c.598G>A (p.Asp200Asn) c.595G>A (p.Asp199Asn) c.166G>A (p.Asp56Asn) n.478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.104741231G>C | CA391240809 | ADSS1 | c.781G>C (p.Asp261His) c.910G>C (p.Asp304His) c.893G>C (n.893G>C) c.846G>C (n.846G>C) n.1702G>C c.784G>C (p.Asp262His) c.913G>C (p.Asp305His) c.598G>C (p.Asp200His) c.595G>C (p.Asp199His) c.166G>C (p.Asp56His) n.478C>G | |
14 | g.104741231G= | CA2160932413 | ADSS1 | c.781G= (p.Asp261=) c.910G= (p.Asp304=) c.893G= (n.893G=) c.846G= (n.846G=) n.1702G= c.784G= (p.Asp262=) c.913G= (p.Asp305=) c.598G= (p.Asp200=) c.595G= (p.Asp199=) c.166G= (p.Asp56=) n.478C= | |
14 | g.104741231G>T | CA391240806 | ADSS1 | c.781G>T (p.Asp261Tyr) c.910G>T (p.Asp304Tyr) c.893G>T (n.893G>T) c.846G>T (n.846G>T) n.1702G>T c.784G>T (p.Asp262Tyr) c.913G>T (p.Asp305Tyr) c.598G>T (p.Asp200Tyr) c.595G>T (p.Asp199Tyr) c.166G>T (p.Asp56Tyr) n.478C>A | gnomAD v4 |
14 | g.104741232A= | CA2160932416 | ADSS1 | c.782A= (p.Asp261=) c.911A= (p.Asp304=) c.894A= (n.894A=) c.847A= (n.847A=) n.1703A= c.785A= (p.Asp262=) c.914A= (p.Asp305=) c.599A= (p.Asp200=) c.596A= (p.Asp199=) c.167A= (p.Asp56=) n.477T= | |
14 | g.104741232A>C | CA7373845 | ADSS1 | c.782A>C (p.Asp261Ala) c.911A>C (p.Asp304Ala) c.894A>C (n.894A>C) c.847A>C (n.847A>C) n.1703A>C c.785A>C (p.Asp262Ala) c.914A>C (p.Asp305Ala) c.599A>C (p.Asp200Ala) c.596A>C (p.Asp199Ala) c.167A>C (p.Asp56Ala) n.477T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741232A>G | CA391240812 | ADSS1 | c.782A>G (p.Asp261Gly) c.911A>G (p.Asp304Gly) c.894A>G (n.894A>G) c.847A>G (n.847A>G) n.1703A>G c.785A>G (p.Asp262Gly) c.914A>G (p.Asp305Gly) c.599A>G (p.Asp200Gly) c.596A>G (p.Asp199Gly) c.167A>G (p.Asp56Gly) n.477T>C | |
14 | g.104741232A>T | CA391240814 | ADSS1 | c.782A>T (p.Asp261Val) c.911A>T (p.Asp304Val) c.894A>T (n.894A>T) c.847A>T (n.847A>T) n.1703A>T c.785A>T (p.Asp262Val) c.914A>T (p.Asp305Val) c.599A>T (p.Asp200Val) c.596A>T (p.Asp199Val) c.167A>T (p.Asp56Val) n.477T>A | |
14 | g.104741233C>A | CA7373846 | ADSS1 | c.783C>A (p.Asp261Glu) c.912C>A (p.Asp304Glu) c.895C>A (n.895C>A) c.848C>A (n.848C>A) n.1704C>A c.786C>A (p.Asp262Glu) c.915C>A (p.Asp305Glu) c.600C>A (p.Asp200Glu) c.597C>A (p.Asp199Glu) c.168C>A (p.Asp56Glu) n.476G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.104741233C= | CA2160932418 | ADSS1 | c.783C= (p.Asp261=) c.912C= (p.Asp304=) c.895C= (n.895C=) c.848C= (n.848C=) n.1704C= c.786C= (p.Asp262=) c.915C= (p.Asp305=) c.600C= (p.Asp200=) c.597C= (p.Asp199=) c.168C= (p.Asp56=) n.476G= | |
14 | g.104741233C>G | CA391240817 | ADSS1 | c.783C>G (p.Asp261Glu) c.912C>G (p.Asp304Glu) c.895C>G (n.895C>G) c.848C>G (n.848C>G) n.1704C>G c.786C>G (p.Asp262Glu) c.915C>G (p.Asp305Glu) c.600C>G (p.Asp200Glu) c.597C>G (p.Asp199Glu) c.168C>G (p.Asp56Glu) n.476G>C | COSMIC COSMIC |
14 | g.104741233C>T | CA488457384 | ADSS1 | c.783C>T (p.Asp261=) c.912C>T (p.Asp304=) c.895C>T (n.895C>T) c.848C>T (n.848C>T) n.1704C>T c.786C>T (p.Asp262=) c.915C>T (p.Asp305=) c.600C>T (p.Asp200=) c.597C>T (p.Asp199=) c.168C>T (p.Asp56=) n.476G>A | |
14 | g.104741234A>C | CA391240819 | ADSS1 | c.784A>C (p.Ile262Leu) c.913A>C (p.Ile305Leu) c.896A>C (n.896A>C) c.849A>C (n.849A>C) n.1705A>C c.787A>C (p.Ile263Leu) c.916A>C (p.Ile306Leu) c.601A>C (p.Ile201Leu) c.598A>C (p.Ile200Leu) c.169A>C (p.Ile57Leu) n.475T>G | |
14 | g.104741234A>G | CA391240820 | ADSS1 | c.784A>G (p.Ile262Val) c.913A>G (p.Ile305Val) c.896A>G (n.896A>G) c.849A>G (n.849A>G) n.1705A>G c.787A>G (p.Ile263Val) c.916A>G (p.Ile306Val) c.601A>G (p.Ile201Val) c.598A>G (p.Ile200Val) c.169A>G (p.Ile57Val) n.475T>C | COSMIC |
14 | g.104741234A>T | CA391240821 | ADSS1 | c.784A>T (p.Ile262Phe) c.913A>T (p.Ile305Phe) c.896A>T (n.896A>T) c.849A>T (n.849A>T) n.1705A>T c.787A>T (p.Ile263Phe) c.916A>T (p.Ile306Phe) c.601A>T (p.Ile201Phe) c.598A>T (p.Ile200Phe) c.169A>T (p.Ile57Phe) n.475T>A | |
14 | g.104741235T>A | CA391240824 | ADSS1 | c.785T>A (p.Ile262Asn) c.914T>A (p.Ile305Asn) c.897T>A (n.897T>A) c.850T>A (n.850T>A) n.1706T>A c.788T>A (p.Ile263Asn) c.917T>A (p.Ile306Asn) c.602T>A (p.Ile201Asn) c.599T>A (p.Ile200Asn) c.170T>A (p.Ile57Asn) n.474A>T | |
14 | g.104741235T>C | CA391240829 | ADSS1 | c.785T>C (p.Ile262Thr) c.914T>C (p.Ile305Thr) c.897T>C (n.897T>C) c.850T>C (n.850T>C) n.1706T>C c.788T>C (p.Ile263Thr) c.917T>C (p.Ile306Thr) c.602T>C (p.Ile201Thr) c.599T>C (p.Ile200Thr) c.170T>C (p.Ile57Thr) n.474A>G | |
14 | g.104741235T>G | CA391240827 | ADSS1 | c.785T>G (p.Ile262Ser) c.914T>G (p.Ile305Ser) c.897T>G (n.897T>G) c.850T>G (n.850T>G) n.1706T>G c.788T>G (p.Ile263Ser) c.917T>G (p.Ile306Ser) c.602T>G (p.Ile201Ser) c.599T>G (p.Ile200Ser) c.170T>G (p.Ile57Ser) n.474A>C | |
14 | g.104741236T>A | CA488457385 | ADSS1 | c.786T>A (p.Ile262=) c.915T>A (p.Ile305=) c.898T>A (n.898T>A) c.851T>A (n.851T>A) n.1707T>A c.789T>A (p.Ile263=) c.918T>A (p.Ile306=) c.603T>A (p.Ile201=) c.600T>A (p.Ile200=) c.171T>A (p.Ile57=) n.473A>T | |
14 | g.104741236T>C | CA488457386 | ADSS1 | c.786T>C (p.Ile262=) c.915T>C (p.Ile305=) c.898T>C (n.898T>C) c.851T>C (n.851T>C) n.1707T>C c.789T>C (p.Ile263=) c.918T>C (p.Ile306=) c.603T>C (p.Ile201=) c.600T>C (p.Ile200=) c.171T>C (p.Ile57=) n.473A>G | gnomAD v4 |
14 | g.104741236T>G | CA391240832 | ADSS1 | c.786T>G (p.Ile262Met) c.915T>G (p.Ile305Met) c.898T>G (n.898T>G) c.851T>G (n.851T>G) n.1707T>G c.789T>G (p.Ile263Met) c.918T>G (p.Ile306Met) c.603T>G (p.Ile201Met) c.600T>G (p.Ile200Met) c.171T>G (p.Ile57Met) n.473A>C | |
14 | g.104741237G>A | CA391240833 | ADSS1 | c.787G>A (p.Asp263Asn) c.916G>A (p.Asp306Asn) c.899G>A (n.899G>A) c.852G>A (n.852G>A) n.1708G>A c.790G>A (p.Asp264Asn) c.919G>A (p.Asp307Asn) c.604G>A (p.Asp202Asn) c.601G>A (p.Asp201Asn) c.172G>A (p.Asp58Asn) n.472C>T | |
14 | g.104741237G>C | CA391240836 | ADSS1 | c.787G>C (p.Asp263His) c.916G>C (p.Asp306His) c.899G>C (n.899G>C) c.852G>C (n.852G>C) n.1708G>C c.790G>C (p.Asp264His) c.919G>C (p.Asp307His) c.604G>C (p.Asp202His) c.601G>C (p.Asp201His) c.172G>C (p.Asp58His) n.472C>G | |
14 | g.104741237G>T | CA391240837 | ADSS1 | c.787G>T (p.Asp263Tyr) c.916G>T (p.Asp306Tyr) c.899G>T (n.899G>T) c.852G>T (n.852G>T) n.1708G>T c.790G>T (p.Asp264Tyr) c.919G>T (p.Asp307Tyr) c.604G>T (p.Asp202Tyr) c.601G>T (p.Asp201Tyr) c.172G>T (p.Asp58Tyr) n.472C>A | gnomAD v4 |
14 | g.104741238A>C | CA391240840 | ADSS1 | c.788A>C (p.Asp263Ala) c.917A>C (p.Asp306Ala) c.900A>C (n.900A>C) c.853A>C (n.853A>C) n.1709A>C c.791A>C (p.Asp264Ala) c.920A>C (p.Asp307Ala) c.605A>C (p.Asp202Ala) c.602A>C (p.Asp201Ala) c.173A>C (p.Asp58Ala) n.471T>G | |
14 | g.104741238A>G | CA391240843 | ADSS1 | c.788A>G (p.Asp263Gly) c.917A>G (p.Asp306Gly) c.900A>G (n.900A>G) c.853A>G (n.853A>G) n.1709A>G c.791A>G (p.Asp264Gly) c.920A>G (p.Asp307Gly) c.605A>G (p.Asp202Gly) c.602A>G (p.Asp201Gly) c.173A>G (p.Asp58Gly) n.471T>C | gnomAD v4 |
14 | g.104741238A>T | CA391240841 | ADSS1 | c.788A>T (p.Asp263Val) c.917A>T (p.Asp306Val) c.900A>T (n.900A>T) c.853A>T (n.853A>T) n.1709A>T c.791A>T (p.Asp264Val) c.920A>T (p.Asp307Val) c.605A>T (p.Asp202Val) c.602A>T (p.Asp201Val) c.173A>T (p.Asp58Val) n.471T>A | |
14 | g.104741239C>A | CA391240845 | ADSS1 | c.789C>A (p.Asp263Glu) c.918C>A (p.Asp306Glu) c.901C>A (n.901C>A) c.854C>A (n.854C>A) n.1710C>A c.792C>A (p.Asp264Glu) c.921C>A (p.Asp307Glu) c.606C>A (p.Asp202Glu) c.603C>A (p.Asp201Glu) c.174C>A (p.Asp58Glu) n.470G>T | gnomAD v4 |
14 | g.104741239C>G | CA391240846 | ADSS1 | c.789C>G (p.Asp263Glu) c.918C>G (p.Asp306Glu) c.901C>G (n.901C>G) c.854C>G (n.854C>G) n.1710C>G c.792C>G (p.Asp264Glu) c.921C>G (p.Asp307Glu) c.606C>G (p.Asp202Glu) c.603C>G (p.Asp201Glu) c.174C>G (p.Asp58Glu) n.470G>C | |
14 | g.104741239C>T | CA488457387 | ADSS1 | c.789C>T (p.Asp263=) c.918C>T (p.Asp306=) c.901C>T (n.901C>T) c.854C>T (n.854C>T) n.1710C>T c.792C>T (p.Asp264=) c.921C>T (p.Asp307=) c.606C>T (p.Asp202=) c.603C>T (p.Asp201=) c.174C>T (p.Asp58=) n.470G>A | |
14 | g.104741240T>A | CA391240848 | ADSS1 | c.790T>A (p.Phe264Ile) c.919T>A (p.Phe307Ile) c.902T>A (n.902T>A) c.855T>A (n.855T>A) n.1711T>A c.793T>A (p.Phe265Ile) c.922T>A (p.Phe308Ile) c.607T>A (p.Phe203Ile) c.604T>A (p.Phe202Ile) c.175T>A (p.Phe59Ile) n.469A>T | |
14 | g.104741240T>C | CA391240849 | ADSS1 | c.790T>C (p.Phe264Leu) c.919T>C (p.Phe307Leu) c.902T>C (n.902T>C) c.855T>C (n.855T>C) n.1711T>C c.793T>C (p.Phe265Leu) c.922T>C (p.Phe308Leu) c.607T>C (p.Phe203Leu) c.604T>C (p.Phe202Leu) c.175T>C (p.Phe59Leu) n.469A>G | |
14 | g.104741240T>G | CA391240852 | ADSS1 | c.790T>G (p.Phe264Val) c.919T>G (p.Phe307Val) c.902T>G (n.902T>G) c.855T>G (n.855T>G) n.1711T>G c.793T>G (p.Phe265Val) c.922T>G (p.Phe308Val) c.607T>G (p.Phe203Val) c.604T>G (p.Phe202Val) c.175T>G (p.Phe59Val) n.469A>C | |
14 | g.104741241T>A | CA391240853 | ADSS1 | c.791T>A (p.Phe264Tyr) c.920T>A (p.Phe307Tyr) c.903T>A (n.903T>A) c.856T>A (n.856T>A) n.1712T>A c.794T>A (p.Phe265Tyr) c.923T>A (p.Phe308Tyr) c.608T>A (p.Phe203Tyr) c.605T>A (p.Phe202Tyr) c.176T>A (p.Phe59Tyr) n.468A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.104741241T>C | CA391240855 | ADSS1 | c.791T>C (p.Phe264Ser) c.920T>C (p.Phe307Ser) c.903T>C (n.903T>C) c.856T>C (n.856T>C) n.1712T>C c.794T>C (p.Phe265Ser) c.923T>C (p.Phe308Ser) c.608T>C (p.Phe203Ser) c.605T>C (p.Phe202Ser) c.176T>C (p.Phe59Ser) n.468A>G | |
14 | g.104741241T>G | CA391240857 | ADSS1 | c.791T>G (p.Phe264Cys) c.920T>G (p.Phe307Cys) c.903T>G (n.903T>G) c.856T>G (n.856T>G) n.1712T>G c.794T>G (p.Phe265Cys) c.923T>G (p.Phe308Cys) c.608T>G (p.Phe203Cys) c.605T>G (p.Phe202Cys) c.176T>G (p.Phe59Cys) n.468A>C | |
14 | g.104741241T= | CA2160932419 | ADSS1 | c.791T= (p.Phe264=) c.920T= (p.Phe307=) c.903T= (n.903T=) c.856T= (n.856T=) n.1712T= c.794T= (p.Phe265=) c.923T= (p.Phe308=) c.608T= (p.Phe203=) c.605T= (p.Phe202=) c.176T= (p.Phe59=) n.468A= | |
14 | g.104741242C>A | CA391240860 | ADSS1 | c.792C>A (p.Phe264Leu) c.921C>A (p.Phe307Leu) c.904C>A (n.904C>A) c.857C>A (n.857C>A) n.1713C>A c.795C>A (p.Phe265Leu) c.924C>A (p.Phe308Leu) c.609C>A (p.Phe203Leu) c.606C>A (p.Phe202Leu) c.177C>A (p.Phe59Leu) n.467G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.104741242C= | CA2160932423 | ADSS1 | c.792C= (p.Phe264=) c.921C= (p.Phe307=) c.904C= (n.904C=) c.857C= (n.857C=) n.1713C= c.795C= (p.Phe265=) c.924C= (p.Phe308=) c.609C= (p.Phe203=) c.606C= (p.Phe202=) c.177C= (p.Phe59=) n.467G= | |
14 | g.104741242C>G | CA391240861 | ADSS1 | c.792C>G (p.Phe264Leu) c.921C>G (p.Phe307Leu) c.904C>G (n.904C>G) c.857C>G (n.857C>G) n.1713C>G c.795C>G (p.Phe265Leu) c.924C>G (p.Phe308Leu) c.609C>G (p.Phe203Leu) c.606C>G (p.Phe202Leu) c.177C>G (p.Phe59Leu) n.467G>C | |
14 | g.104741242C>T | CA7373847 | ADSS1 | c.792C>T (p.Phe264=) c.921C>T (p.Phe307=) c.904C>T (n.904C>T) c.857C>T (n.857C>T) n.1713C>T c.795C>T (p.Phe265=) c.924C>T (p.Phe308=) c.609C>T (p.Phe203=) c.606C>T (p.Phe202=) c.177C>T (p.Phe59=) n.467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |