Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496389_2496400dup | CA973806073 | TBC1D24 | c.241_252dup (p.Lys84_His85insIleValGlyLys) n.423_434dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496389_2496400del | CA7843957 | TBC1D24 | c.241_252del (p.Ile81_Lys84del) n.423_434del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496397C>A | CA493366620 | TBC1D24 | c.249C>A (p.Gly83=) n.431C>A | |
16 | g.2496397C>G | CA493366621 | TBC1D24 | c.249C>G (p.Gly83=) n.431C>G | |
16 | g.2496397C>T | CA493366622 | TBC1D24 | c.249C>T (p.Gly83=) n.431C>T | |
16 | g.2496398A>C | CA394375175 | TBC1D24 | c.250A>C (p.Lys84Gln) n.432A>C | |
16 | g.2496398A>G | CA394375176 | TBC1D24 | c.250A>G (p.Lys84Glu) n.432A>G | COSMIC |
16 | g.2496398A>T | CA394375177 | TBC1D24 | c.250A>T (p.Lys84Ter) n.432A>T | |
16 | g.2496399A>C | CA394375178 | TBC1D24 | c.251A>C (p.Lys84Thr) n.433A>C | |
16 | g.2496399A>G | CA394375180 | TBC1D24 | c.251A>G (p.Lys84Arg) n.433A>G | |
16 | g.2496399A>T | CA394375182 | TBC1D24 | c.251A>T (p.Lys84Met) n.433A>T | |
16 | g.2496400G>A | CA493366624 | TBC1D24 | c.252G>A (p.Lys84=) n.434G>A | |
16 | g.2496400G>C | CA394375184 | TBC1D24 | c.252G>C (p.Lys84Asn) n.434G>C | gnomAD v4 |
16 | g.2496400G>T | CA394375186 | TBC1D24 | c.252G>T (p.Lys84Asn) n.434G>T | |
16 | g.2496401C>A | CA394375189 | TBC1D24 | c.253C>A (p.His85Asn) n.435C>A | |
16 | g.2496401C= | CA2202259778 | TBC1D24 | c.253C= (p.His85=) n.435C= | |
16 | g.2496401C>G | CA394375191 | TBC1D24 | c.253C>G (p.His85Asp) n.435C>G | ClinVar dbSNP |
16 | g.2496401C>T | CA394375193 | TBC1D24 | c.253C>T (p.His85Tyr) n.435C>T | ClinVar dbSNP |
16 | g.2496402A>C | CA394375195 | TBC1D24 | c.254A>C (p.His85Pro) n.436A>C | |
16 | g.2496402A>G | CA394375197 | TBC1D24 | c.254A>G (p.His85Arg) n.436A>G | |
16 | g.2496402A>T | CA394375199 | TBC1D24 | c.254A>T (p.His85Leu) n.436A>T | |
16 | g.2496403C>A | CA394375202 | TBC1D24 | c.255C>A (p.His85Gln) n.437C>A | |
16 | g.2496403C= | CA2202259779 | TBC1D24 | c.255C= (p.His85=) n.437C= | |
16 | g.2496403C>G | CA394375204 | TBC1D24 | c.255C>G (p.His85Gln) n.437C>G | |
16 | g.2496403C>T | CA493366626 | TBC1D24 | c.255C>T (p.His85=) n.437C>T | dbSNP |
16 | g.2496404A= | CA2202259780 | TBC1D24 | c.256A= (p.Ser86=) n.438A= | |
16 | g.2496404A>C | CA394375206 | TBC1D24 | c.256A>C (p.Ser86Arg) n.438A>C | |
16 | g.2496404A>G | CA394375208 | TBC1D24 | c.256A>G (p.Ser86Gly) n.438A>G | |
16 | g.2496404A>T | CA394375210 | TBC1D24 | c.256A>T (p.Ser86Cys) n.438A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496405G>A | CA394375212 | TBC1D24 | c.257G>A (p.Ser86Asn) n.439G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496405G>C | CA394375214 | TBC1D24 | c.257G>C (p.Ser86Thr) n.439G>C | |
16 | g.2496405G= | CA2202259781 | TBC1D24 | c.257G= (p.Ser86=) n.439G= | |
16 | g.2496405G>T | CA394375215 | TBC1D24 | c.257G>T (p.Ser86Ile) n.439G>T | |
16 | g.2496406C>A | CA394375216 | TBC1D24 | c.258C>A (p.Ser86Arg) n.440C>A | |
16 | g.2496406C>G | CA394375218 | TBC1D24 | c.258C>G (p.Ser86Arg) n.440C>G | |
16 | g.2496406C>T | CA493366629 | TBC1D24 | c.258C>T (p.Ser86=) n.440C>T | gnomAD v4 |
16 | g.2496407A= | CA2202259782 | TBC1D24 | c.259A= (p.Ser87=) n.441A= | |
16 | g.2496407A>C | CA394375220 | TBC1D24 | c.259A>C (p.Ser87Arg) n.441A>C | |
16 | g.2496407A>G | CA394375222 | TBC1D24 | c.259A>G (p.Ser87Gly) n.441A>G | ClinVar dbSNP gnomAD v4 |
16 | g.2496407A>T | CA394375224 | TBC1D24 | c.259A>T (p.Ser87Cys) n.441A>T | |
16 | g.2496408G>A | CA394375226 | TBC1D24 | c.260G>A (p.Ser87Asn) n.442G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496408G>C | CA394375229 | TBC1D24 | c.260G>C (p.Ser87Thr) n.442G>C | |
16 | g.2496408G= | CA2202259783 | TBC1D24 | c.260G= (p.Ser87=) n.442G= | |
16 | g.2496408G>T | CA394375227 | TBC1D24 | c.260G>T (p.Ser87Ile) n.442G>T | |
16 | g.2496409C>A | CA394375231 | TBC1D24 | c.261C>A (p.Ser87Arg) n.443C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496409C= | CA2202259784 | TBC1D24 | c.261C= (p.Ser87=) n.443C= | |
16 | g.2496409C>G | CA394375233 | TBC1D24 | c.261C>G (p.Ser87Arg) n.443C>G | dbSNP |
16 | g.2496409C>T | CA493366631 | TBC1D24 | c.261C>T (p.Ser87=) n.443C>T | |
16 | g.2496410A>C | CA394375236 | TBC1D24 | c.262A>C (p.Ser88Arg) n.444A>C | |
16 | g.2496410A>G | CA394375238 | TBC1D24 | c.262A>G (p.Ser88Gly) n.444A>G | |
16 | g.2496410A>T | CA394375240 | TBC1D24 | c.262A>T (p.Ser88Cys) n.444A>T | |
16 | g.2496411G>A | CA394375242 | TBC1D24 | c.263G>A (p.Ser88Asn) n.445G>A | ClinVar dbSNP COSMIC |
16 | g.2496411G>C | CA394375244 | TBC1D24 | c.263G>C (p.Ser88Thr) n.445G>C | |
16 | g.2496411G= | CA2202259785 | TBC1D24 | c.263G= (p.Ser88=) n.445G= | |
16 | g.2496411G>T | CA394375246 | TBC1D24 | c.263G>T (p.Ser88Ile) n.445G>T | gnomAD v4 |
16 | g.2496411_2496416del | CA2590078327 | TBC1D24 | c.263_268del (p.Ser88_Leu90delinsMet) n.445_450del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496412C>A | CA394375248 | TBC1D24 | c.264C>A (p.Ser88Arg) n.446C>A | |
16 | g.2496412C>G | CA394375249 | TBC1D24 | c.264C>G (p.Ser88Arg) n.446C>G | |
16 | g.2496412C>T | CA493366632 | TBC1D24 | c.264C>T (p.Ser88=) n.446C>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496413T>A | CA394375251 | TBC1D24 | c.265T>A (p.Cys89Ser) n.447T>A | |
16 | g.2496413T>C | CA394375252 | TBC1D24 | c.265T>C (p.Cys89Arg) n.447T>C | |
16 | g.2496413T>G | CA394375253 | TBC1D24 | c.265T>G (p.Cys89Gly) n.447T>G | |
16 | g.2496414G>A | CA394375259 | TBC1D24 | c.266G>A (p.Cys89Tyr) n.448G>A | gnomAD v4 |
16 | g.2496414G>C | CA394375256 | TBC1D24 | c.266G>C (p.Cys89Ser) n.448G>C | |
16 | g.2496414G>T | CA394375255 | TBC1D24 | c.266G>T (p.Cys89Phe) n.448G>T | |
16 | g.2496415C>A | CA394375261 | TBC1D24 | c.267C>A (p.Cys89Ter) n.449C>A | |
16 | g.2496415C>G | CA394375263 | TBC1D24 | c.267C>G (p.Cys89Trp) n.449C>G | |
16 | g.2496415C>T | CA493366635 | TBC1D24 | c.267C>T (p.Cys89=) n.449C>T | gnomAD v4 |
16 | g.2496416C>A | CA394375266 | TBC1D24 | c.268C>A (p.Leu90Met) n.450C>A | |
16 | g.2496416C>G | CA394375267 | TBC1D24 | c.268C>G (p.Leu90Val) n.450C>G | gnomAD v4 |
16 | g.2496416C>T | CA493366636 | TBC1D24 | c.268C>T (p.Leu90=) n.450C>T | |
16 | g.2496417T>A | CA394375270 | TBC1D24 | c.269T>A (p.Leu90Gln) n.451T>A | |
16 | g.2496417T>C | CA394375272 | TBC1D24 | c.269T>C (p.Leu90Pro) n.451T>C | |
16 | g.2496417T>G | CA394375274 | TBC1D24 | c.269T>G (p.Leu90Arg) n.451T>G | |
16 | g.2496418G>A | CA493366638 | TBC1D24 | c.270G>A (p.Leu90=) n.452G>A | gnomAD v4 |
16 | g.2496418G>C | CA493366640 | TBC1D24 | c.270G>C (p.Leu90=) n.452G>C | |
16 | g.2496418G>T | CA493366641 | TBC1D24 | c.270G>T (p.Leu90=) n.452G>T | |
16 | g.2496418_2496434del | CA2580091016 | TBC1D24 | c.270_286del (p.Pro91GlyfsTer?) n.452_468del | ClinVar |
16 | g.2496419C>A | CA394375276 | TBC1D24 | c.271C>A (p.Pro91Thr) n.453C>A | |
16 | g.2496419C>G | CA394375278 | TBC1D24 | c.271C>G (p.Pro91Ala) n.453C>G | |
16 | g.2496419C>T | CA394375280 | TBC1D24 | c.271C>T (p.Pro91Ser) n.453C>T | gnomAD v4 |
16 | g.2496420C>A | CA394375282 | TBC1D24 | c.272C>A (p.Pro91Gln) n.454C>A | |
16 | g.2496420C= | CA2202259786 | TBC1D24 | c.272C= (p.Pro91=) n.454C= | |
16 | g.2496420C>G | CA394375284 | TBC1D24 | c.272C>G (p.Pro91Arg) n.454C>G | |
16 | g.2496420C>T | CA7843962 | TBC1D24 | c.272C>T (p.Pro91Leu) n.454C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496421G>A | CA7843963 | TBC1D24 | c.273G>A (p.Pro91=) n.455G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496421G>C | CA493366645 | TBC1D24 | c.273G>C (p.Pro91=) n.455G>C | |
16 | g.2496421G= | CA2202259787 | TBC1D24 | c.273G= (p.Pro91=) n.455G= | |
16 | g.2496421G>T | CA493366644 | TBC1D24 | c.273G>T (p.Pro91=) n.455G>T | |
16 | g.2496422C>A | CA394375292 | TBC1D24 | c.274C>A (p.Leu92Met) n.456C>A | |
16 | g.2496422C>G | CA394375290 | TBC1D24 | c.274C>G (p.Leu92Val) n.456C>G | |
16 | g.2496422C>T | CA493366646 | TBC1D24 | c.274C>T (p.Leu92=) n.456C>T | ClinVar COSMIC |
16 | g.2496423T>A | CA394375293 | TBC1D24 | c.275T>A (p.Leu92Gln) n.457T>A | |
16 | g.2496423T>C | CA394375295 | TBC1D24 | c.275T>C (p.Leu92Pro) n.457T>C | |
16 | g.2496423T>G | CA394375298 | TBC1D24 | c.275T>G (p.Leu92Arg) n.457T>G | gnomAD v4 |
16 | g.2496424G>A | CA493366650 | TBC1D24 | c.276G>A (p.Leu92=) n.458G>A | |
16 | g.2496424G>C | CA493366651 | TBC1D24 | c.276G>C (p.Leu92=) n.458G>C | |
16 | g.2496424G>T | CA493366652 | TBC1D24 | c.276G>T (p.Leu92=) n.458G>T | |
16 | g.2496425C>A | CA394375301 | TBC1D24 | c.277C>A (p.Pro93Thr) n.459C>A | |
16 | g.2496425C= | CA2202259788 | TBC1D24 | c.277C= (p.Pro93=) n.459C= | |
16 | g.2496425C>G | CA394375303 | TBC1D24 | c.277C>G (p.Pro93Ala) n.459C>G | |
16 | g.2496425C>T | CA394375304 | TBC1D24 | c.277C>T (p.Pro93Ser) n.459C>T | dbSNP gnomAD v2 |
16 | g.2496427del | CA2631209428 | TBC1D24 | c.279del (p.Glu94SerfsTer13) n.461del | gnomAD v4 |
16 | g.2496426C>A | CA394375306 | TBC1D24 | c.278C>A (p.Pro93His) n.460C>A | |
16 | g.2496426C>G | CA394375308 | TBC1D24 | c.278C>G (p.Pro93Arg) n.460C>G | |
16 | g.2496426C>T | CA394375309 | TBC1D24 | c.278C>T (p.Pro93Leu) n.460C>T | gnomAD v4 |
16 | g.2496427C>A | CA276809616 | TBC1D24 | c.279C>A (p.Pro93=) n.461C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496427C= | CA2202259789 | TBC1D24 | c.279C= (p.Pro93=) n.461C= | |
16 | g.2496427C>G | CA493366655 | TBC1D24 | c.279C>G (p.Pro93=) n.461C>G | dbSNP |
16 | g.2496427C>T | CA276809617 | TBC1D24 | c.279C>T (p.Pro93=) n.461C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496428G>A | CA394375311 | TBC1D24 | c.280G>A (p.Glu94Lys) n.462G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496428G>C | CA394375312 | TBC1D24 | c.280G>C (p.Glu94Gln) n.462G>C | |
16 | g.2496428G= | CA2202259790 | TBC1D24 | c.280G= (p.Glu94=) n.462G= | |
16 | g.2496428G>T | CA394375313 | TBC1D24 | c.280G>T (p.Glu94Ter) n.462G>T | |
16 | g.2496429A>C | CA394375320 | TBC1D24 | c.281A>C (p.Glu94Ala) n.463A>C | |
16 | g.2496429A>G | CA394375316 | TBC1D24 | c.281A>G (p.Glu94Gly) n.463A>G | |
16 | g.2496429A>T | CA394375318 | TBC1D24 | c.281A>T (p.Glu94Val) n.463A>T | |
16 | g.2496430G>A | CA276809618 | TBC1D24 | c.282G>A (p.Glu94=) n.464G>A | dbSNP |
16 | g.2496430G>C | CA394375321 | TBC1D24 | c.282G>C (p.Glu94Asp) n.464G>C | |
16 | g.2496430G= | CA2202259791 | TBC1D24 | c.282G= (p.Glu94=) n.464G= | |
16 | g.2496430G>T | CA394375322 | TBC1D24 | c.282G>T (p.Glu94Asp) n.464G>T | |
16 | g.2496431T>A | CA394375325 | TBC1D24 | c.283T>A (p.Phe95Ile) n.465T>A | |
16 | g.2496431T>C | CA394375326 | TBC1D24 | c.283T>C (p.Phe95Leu) n.465T>C | |
16 | g.2496431T>G | CA7843964 | TBC1D24 | c.283T>G (p.Phe95Val) n.465T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496431T= | CA2202259792 | TBC1D24 | c.283T= (p.Phe95=) n.465T= | |
16 | g.2496432T>A | CA394375331 | TBC1D24 | c.284T>A (p.Phe95Tyr) n.466T>A | |
16 | g.2496432T>C | CA394375333 | TBC1D24 | c.284T>C (p.Phe95Ser) n.466T>C | ClinVar |
16 | g.2496432T>G | CA394375335 | TBC1D24 | c.284T>G (p.Phe95Cys) n.466T>G | |
16 | g.2496433C>A | CA394375338 | TBC1D24 | c.285C>A (p.Phe95Leu) n.467C>A | |
16 | g.2496433C= | CA2202259793 | TBC1D24 | c.285C= (p.Phe95=) n.467C= | |
16 | g.2496433C>G | CA394375341 | TBC1D24 | c.285C>G (p.Phe95Leu) n.467C>G | ClinVar |
16 | g.2496433C>T | CA7843965 | TBC1D24 | c.285C>T (p.Phe95=) n.467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496434G>A | CA276809619 | TBC1D24 | c.286G>A (p.Val96Met) n.468G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496434G>C | CA394375348 | TBC1D24 | c.286G>C (p.Val96Leu) n.468G>C | ClinVar |
16 | g.2496434G= | CA2202259794 | TBC1D24 | c.286G= (p.Val96=) n.468G= | |
16 | g.2496434G>T | CA394375347 | TBC1D24 | c.286G>T (p.Val96Leu) n.468G>T | |
16 | g.2496435T>A | CA394375354 | TBC1D24 | c.287T>A (p.Val96Glu) n.469T>A | |
16 | g.2496435T>C | CA394375359 | TBC1D24 | c.287T>C (p.Val96Ala) n.469T>C | |
16 | g.2496435T>G | CA394375357 | TBC1D24 | c.287T>G (p.Val96Gly) n.469T>G | |
16 | g.2496436G>A | CA493366661 | TBC1D24 | c.288G>A (p.Val96=) n.470G>A | gnomAD v4 |
16 | g.2496436G>C | CA493366662 | TBC1D24 | c.288G>C (p.Val96=) n.470G>C | |
16 | g.2496436G>T | CA493366663 | TBC1D24 | c.288G>T (p.Val96=) n.470G>T | |
16 | g.2496437G>A | CA394375361 | TBC1D24 | c.289G>A (p.Asp97Asn) n.471G>A | |
16 | g.2496437G>C | CA394375366 | TBC1D24 | c.289G>C (p.Asp97His) n.471G>C | |
16 | g.2496437G>T | CA394375363 | TBC1D24 | c.289G>T (p.Asp97Tyr) n.471G>T | |
16 | g.2496438A>C | CA394375368 | TBC1D24 | c.290A>C (p.Asp97Ala) n.472A>C | |
16 | g.2496438A>G | CA394375370 | TBC1D24 | c.290A>G (p.Asp97Gly) n.472A>G | |
16 | g.2496438A>T | CA394375372 | TBC1D24 | c.290A>T (p.Asp97Val) n.472A>T | |
16 | g.2496439C>A | CA394375373 | TBC1D24 | c.291C>A (p.Asp97Glu) n.473C>A | |
16 | g.2496439C>G | CA394375375 | TBC1D24 | c.291C>G (p.Asp97Glu) n.473C>G | |
16 | g.2496439C>T | CA493366664 | TBC1D24 | c.291C>T (p.Asp97=) n.473C>T | ClinVar |
16 | g.2496440A= | CA2202259795 | TBC1D24 | c.292A= (p.Asn98=) n.474A= | |
16 | g.2496440A>C | CA394375377 | TBC1D24 | c.292A>C (p.Asn98His) n.474A>C | |
16 | g.2496440A>G | CA7843966 | TBC1D24 | c.292A>G (p.Asn98Asp) n.474A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496440A>T | CA394375379 | TBC1D24 | c.292A>T (p.Asn98Tyr) n.474A>T | |
16 | g.2496441A>C | CA394375382 | TBC1D24 | c.293A>C (p.Asn98Thr) n.475A>C | |
16 | g.2496441A>G | CA394375383 | TBC1D24 | c.293A>G (p.Asn98Ser) n.475A>G | |
16 | g.2496441A>T | CA394375385 | TBC1D24 | c.293A>T (p.Asn98Ile) n.475A>T | |
16 | g.2496442C>A | CA394375388 | TBC1D24 | c.294C>A (p.Asn98Lys) n.476C>A | |
16 | g.2496442C>G | CA394375390 | TBC1D24 | c.294C>G (p.Asn98Lys) n.476C>G | |
16 | g.2496442C>T | CA493366667 | TBC1D24 | c.294C>T (p.Asn98=) n.476C>T | |
16 | g.2496443A>C | CA394375392 | TBC1D24 | c.295A>C (p.Thr99Pro) n.477A>C | |
16 | g.2496443A>G | CA394375394 | TBC1D24 | c.295A>G (p.Thr99Ala) n.477A>G | gnomAD v4 |
16 | g.2496443A>T | CA394375393 | TBC1D24 | c.295A>T (p.Thr99Ser) n.477A>T | |
16 | g.2496444C>A | CA394375396 | TBC1D24 | c.296C>A (p.Thr99Lys) n.478C>A | |
16 | g.2496444C= | CA2202259796 | TBC1D24 | c.296C= (p.Thr99=) n.478C= | |
16 | g.2496444C>G | CA394375398 | TBC1D24 | c.296C>G (p.Thr99Arg) n.478C>G | |
16 | g.2496444C>T | CA276809620 | TBC1D24 | c.296C>T (p.Thr99Met) n.478C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496445G>A | CA7843967 | TBC1D24 | c.297G>A (p.Thr99=) n.479G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496445G>C | CA493366673 | TBC1D24 | c.297G>C (p.Thr99=) n.479G>C | |
16 | g.2496445G= | CA2202259797 | TBC1D24 | c.297G= (p.Thr99=) n.479G= | |
16 | g.2496445G>T | CA493366672 | TBC1D24 | c.297G>T (p.Thr99=) n.479G>T | |
16 | g.2496446C>A | CA394375400 | TBC1D24 | c.298C>A (p.Gln100Lys) n.480C>A | |
16 | g.2496446C= | CA2202259798 | TBC1D24 | c.298C= (p.Gln100=) n.480C= | |
16 | g.2496446C>G | CA394375401 | TBC1D24 | c.298C>G (p.Gln100Glu) n.480C>G | |
16 | g.2496446C>T | CA394375403 | TBC1D24 | c.298C>T (p.Gln100Ter) n.480C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496447A= | CA2202259799 | TBC1D24 | c.299A= (p.Gln100=) n.481A= | |
16 | g.2496447A>C | CA394375406 | TBC1D24 | c.299A>C (p.Gln100Pro) n.481A>C | gnomAD v4 |
16 | g.2496447A>G | CA394375407 | TBC1D24 | c.299A>G (p.Gln100Arg) n.481A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496447A>T | CA394375409 | TBC1D24 | c.299A>T (p.Gln100Leu) n.481A>T | ClinVar dbSNP |
16 | g.2496448G>A | CA493366677 | TBC1D24 | c.300G>A (p.Gln100=) n.482G>A | |
16 | g.2496448G>C | CA394375411 | TBC1D24 | c.300G>C (p.Gln100His) n.482G>C | |
16 | g.2496448G>T | CA394375413 | TBC1D24 | c.300G>T (p.Gln100His) n.482G>T | |
16 | g.2496449G>A | CA394375415 | TBC1D24 | c.301G>A (p.Val101Met) n.483G>A | |
16 | g.2496449G>C | CA394375418 | TBC1D24 | c.301G>C (p.Val101Leu) n.483G>C | gnomAD v4 |
16 | g.2496449G>T | CA394375420 | TBC1D24 | c.301G>T (p.Val101Leu) n.483G>T | |
16 | g.2496450T>A | CA394375422 | TBC1D24 | c.302T>A (p.Val101Glu) n.484T>A | |
16 | g.2496450T>C | CA394375424 | TBC1D24 | c.302T>C (p.Val101Ala) n.484T>C | |
16 | g.2496450T>G | CA394375426 | TBC1D24 | c.302T>G (p.Val101Gly) n.484T>G | dbSNP |
16 | g.2496450T= | CA2202259800 | TBC1D24 | c.302T= (p.Val101=) n.484T= | |
16 | g.2496451G>A | CA7843968 | TBC1D24 | c.303G>A (p.Val101=) n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496451G>C | CA493366679 | TBC1D24 | c.303G>C (p.Val101=) n.485G>C | |
16 | g.2496451G= | CA2202259801 | TBC1D24 | c.303G= (p.Val101=) n.485G= | |
16 | g.2496451G>T | CA493366681 | TBC1D24 | c.303G>T (p.Val101=) n.485G>T | gnomAD v4 |
16 | g.2496452C>A | CA394375429 | TBC1D24 | c.304C>A (p.Pro102Thr) n.486C>A | |
16 | g.2496452C= | CA2202259802 | TBC1D24 | c.304C= (p.Pro102=) n.486C= | |
16 | g.2496452C>G | CA7843969 | TBC1D24 | c.304C>G (p.Pro102Ala) n.486C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496452C>T | CA394375432 | TBC1D24 | c.304C>T (p.Pro102Ser) n.486C>T | gnomAD v4 |
16 | g.2496453C>A | CA394375434 | TBC1D24 | c.305C>A (p.Pro102His) n.487C>A | |
16 | g.2496453C>G | CA394375436 | TBC1D24 | c.305C>G (p.Pro102Arg) n.487C>G | |
16 | g.2496453C>T | CA394375438 | TBC1D24 | c.305C>T (p.Pro102Leu) n.487C>T | gnomAD v4 |
16 | g.2496454C>A | CA493366686 | TBC1D24 | c.306C>A (p.Pro102=) n.488C>A | |
16 | g.2496454C>G | CA493366687 | TBC1D24 | c.306C>G (p.Pro102=) n.488C>G | |
16 | g.2496454C>T | CA493366685 | TBC1D24 | c.306C>T (p.Pro102=) n.488C>T | gnomAD v4 |
16 | g.2496455A>C | CA394375444 | TBC1D24 | c.307A>C (p.Ser103Arg) n.489A>C | |
16 | g.2496455A>G | CA394375441 | TBC1D24 | c.307A>G (p.Ser103Gly) n.489A>G | dbSNP |
16 | g.2496455A>T | CA394375443 | TBC1D24 | c.307A>T (p.Ser103Cys) n.489A>T | |
16 | g.2496456G>A | CA7843970 | TBC1D24 | c.308G>A (p.Ser103Asn) n.490G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496456G>C | CA394375448 | TBC1D24 | c.308G>C (p.Ser103Thr) n.490G>C | |
16 | g.2496456G= | CA2202259803 | TBC1D24 | c.308G= (p.Ser103=) n.490G= | |
16 | g.2496456G>T | CA394375450 | TBC1D24 | c.308G>T (p.Ser103Ile) n.490G>T | |
16 | g.2496457C>A | CA394375452 | TBC1D24 | c.309C>A (p.Ser103Arg) n.491C>A | |
16 | g.2496457C>G | CA394375454 | TBC1D24 | c.309C>G (p.Ser103Arg) n.491C>G | |
16 | g.2496457C>T | CA493366691 | TBC1D24 | c.309C>T (p.Ser103=) n.491C>T | |
16 | g.2496457dup | CA2740096856 | TBC1D24 | c.309dup (p.Tyr104LeufsTer?) n.491dup | ClinVar |
16 | g.2496458T>A | CA394375456 | TBC1D24 | c.310T>A (p.Tyr104Asn) n.492T>A | |
16 | g.2496458T>C | CA394375458 | TBC1D24 | c.310T>C (p.Tyr104His) n.492T>C | |
16 | g.2496458T>G | CA394375460 | TBC1D24 | c.310T>G (p.Tyr104Asp) n.492T>G | |
16 | g.2496459A= | CA2202259804 | TBC1D24 | c.311A= (p.Tyr104=) n.493A= | |
16 | g.2496459A>C | CA394375462 | TBC1D24 | c.311A>C (p.Tyr104Ser) n.493A>C | |
16 | g.2496459A>G | CA394375464 | TBC1D24 | c.311A>G (p.Tyr104Cys) n.493A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496459A>T | CA394375466 | TBC1D24 | c.311A>T (p.Tyr104Phe) n.493A>T | |
16 | g.2496460C>A | CA394375472 | TBC1D24 | c.312C>A (p.Tyr104Ter) n.494C>A | |
16 | g.2496460C= | CA2202259805 | TBC1D24 | c.312C= (p.Tyr104=) n.494C= | |
16 | g.2496460C>G | CA394375469 | TBC1D24 | c.312C>G (p.Tyr104Ter) n.494C>G | |
16 | g.2496460C>T | CA7843971 | TBC1D24 | c.312C>T (p.Tyr104=) n.494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496461T>A | CA394375475 | TBC1D24 | c.313T>A (p.Cys105Ser) n.495T>A | |
16 | g.2496461T>C | CA347138 | TBC1D24 | c.313T>C (p.Cys105Arg) n.495T>C | ClinVar dbSNP |
16 | g.2496461T>G | CA394375476 | TBC1D24 | c.313T>G (p.Cys105Gly) n.495T>G | |
16 | g.2496461T= | CA2202259806 | TBC1D24 | c.313T= (p.Cys105=) n.495T= | |
16 | g.2496462G>A | CA394375478 | TBC1D24 | c.314G>A (p.Cys105Tyr) n.496G>A | gnomAD v4 |
16 | g.2496462G>C | CA394375480 | TBC1D24 | c.314G>C (p.Cys105Ser) n.496G>C | |
16 | g.2496462G>T | CA394375481 | TBC1D24 | c.314G>T (p.Cys105Phe) n.496G>T | |
16 | g.2496463C>A | CA394375482 | TBC1D24 | c.315C>A (p.Cys105Ter) n.497C>A | |
16 | g.2496463C>G | CA394375484 | TBC1D24 | c.315C>G (p.Cys105Trp) n.497C>G | |
16 | g.2496463C>T | CA493366693 | TBC1D24 | c.315C>T (p.Cys105=) n.497C>T | |
16 | g.2496464C>A | CA394375485 | TBC1D24 | c.316C>A (p.Leu106Met) n.498C>A | |
16 | g.2496464C>G | CA394375488 | TBC1D24 | c.316C>G (p.Leu106Val) n.498C>G | |
16 | g.2496464C>T | CA493366695 | TBC1D24 | c.316C>T (p.Leu106=) n.498C>T | gnomAD v4 |
16 | g.2496465T>A | CA394375490 | TBC1D24 | c.317T>A (p.Leu106Gln) n.499T>A | ClinVar |
16 | g.2496465T>C | CA394375492 | TBC1D24 | c.317T>C (p.Leu106Pro) n.499T>C | gnomAD v4 |
16 | g.2496465T>G | CA394375494 | TBC1D24 | c.317T>G (p.Leu106Arg) n.499T>G | |
16 | g.2496466G>A | CA493366696 | TBC1D24 | c.318G>A (p.Leu106=) n.500G>A | |
16 | g.2496466G>C | CA493366698 | TBC1D24 | c.318G>C (p.Leu106=) n.500G>C | |
16 | g.2496466G>T | CA493366697 | TBC1D24 | c.318G>T (p.Leu106=) n.500G>T | gnomAD v4 |
16 | g.2496467A>C | CA394375500 | TBC1D24 | c.319A>C (p.Asn107His) n.501A>C | |
16 | g.2496467A>G | CA394375498 | TBC1D24 | c.319A>G (p.Asn107Asp) n.501A>G | |
16 | g.2496467A>T | CA394375496 | TBC1D24 | c.319A>T (p.Asn107Tyr) n.501A>T | |
16 | g.2496468A>C | CA394375502 | TBC1D24 | c.320A>C (p.Asn107Thr) n.502A>C | |
16 | g.2496468A>G | CA394375504 | TBC1D24 | c.320A>G (p.Asn107Ser) n.502A>G | |
16 | g.2496468A>T | CA394375505 | TBC1D24 | c.320A>T (p.Asn107Ile) n.502A>T | |
16 | g.2496469T>A | CA16608138 | TBC1D24 | c.321T>A (p.Asn107Lys) n.503T>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496469T>C | CA493366700 | TBC1D24 | c.321T>C (p.Asn107=) n.503T>C | ClinVar |
16 | g.2496469T>G | CA394375506 | TBC1D24 | c.321T>G (p.Asn107Lys) n.503T>G | |
16 | g.2496469T= | CA2202259807 | TBC1D24 | c.321T= (p.Asn107=) n.503T= | |
16 | g.2496470G>A | CA394375508 | TBC1D24 | c.322G>A (p.Ala108Thr) n.504G>A | |
16 | g.2496470G>C | CA394375511 | TBC1D24 | c.322G>C (p.Ala108Pro) n.504G>C | |
16 | g.2496470G>T | CA394375513 | TBC1D24 | c.322G>T (p.Ala108Ser) n.504G>T | |
16 | g.2496471C>A | CA394375515 | TBC1D24 | c.323C>A (p.Ala108Glu) n.505C>A | |
16 | g.2496471C>G | CA394375517 | TBC1D24 | c.323C>G (p.Ala108Gly) n.505C>G | |
16 | g.2496471C>T | CA394375519 | TBC1D24 | c.323C>T (p.Ala108Val) n.505C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496472A>C | CA493366701 | TBC1D24 | c.324A>C (p.Ala108=) n.506A>C | gnomAD v4 |
16 | g.2496472A>G | CA493366703 | TBC1D24 | c.324A>G (p.Ala108=) n.506A>G | |
16 | g.2496472A>T | CA493366704 | TBC1D24 | c.324A>T (p.Ala108=) n.506A>T | |
16 | g.2496473C>A | CA394375522 | TBC1D24 | c.325C>A (p.Arg109Ser) n.507C>A | ClinVar |
16 | g.2496473C= | CA2202259808 | TBC1D24 | c.325C= (p.Arg109=) n.507C= | |
16 | g.2496473C>G | CA7843972 | TBC1D24 | c.325C>G (p.Arg109Gly) n.507C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496473C>T | CA7843973 | TBC1D24 | c.325C>T (p.Arg109Cys) n.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496474G>A | CA7843974 | TBC1D24 | c.326G>A (p.Arg109His) n.508G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496474G>C | CA394375529 | TBC1D24 | c.326G>C (p.Arg109Pro) n.508G>C | |
16 | g.2496474G= | CA2202259809 | TBC1D24 | c.326G= (p.Arg109=) n.508G= | |
16 | g.2496474G>T | CA394375525 | TBC1D24 | c.326G>T (p.Arg109Leu) n.508G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496475C>A | CA7843975 | TBC1D24 | c.327C>A (p.Arg109=) n.509C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496475C= | CA2202259810 | TBC1D24 | c.327C= (p.Arg109=) n.509C= | |
16 | g.2496475C>G | CA493366705 | TBC1D24 | c.327C>G (p.Arg109=) n.509C>G | gnomAD v4 |
16 | g.2496475C>T | CA7843976 | TBC1D24 | c.327C>T (p.Arg109=) n.509C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496476G>A | CA347140 | TBC1D24 | c.328G>A (p.Gly110Ser) n.510G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496476G>C | CA394375534 | TBC1D24 | c.328G>C (p.Gly110Arg) n.510G>C | |
16 | g.2496476G= | CA2202259811 | TBC1D24 | c.328G= (p.Gly110=) n.510G= | |
16 | g.2496476G>T | CA394375536 | TBC1D24 | c.328G>T (p.Gly110Cys) n.510G>T | |
16 | g.2496477G>A | CA394375538 | TBC1D24 | c.329G>A (p.Gly110Asp) n.511G>A | |
16 | g.2496477G>C | CA394375539 | TBC1D24 | c.329G>C (p.Gly110Ala) n.511G>C | |
16 | g.2496477G>T | CA394375541 | TBC1D24 | c.329G>T (p.Gly110Val) n.511G>T | |
16 | g.2496478C>A | CA493366706 | TBC1D24 | c.330C>A (p.Gly110=) n.512C>A | gnomAD v4 |
16 | g.2496478C= | CA2202259812 | TBC1D24 | c.330C= (p.Gly110=) n.512C= | |
16 | g.2496478C>G | CA493366707 | TBC1D24 | c.330C>G (p.Gly110=) n.512C>G | |
16 | g.2496478C>T | CA7843977 | TBC1D24 | c.330C>T (p.Gly110=) n.512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>A | CA7843978 | TBC1D24 | c.331G>A (p.Glu111Lys) n.513G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>C | CA394375544 | TBC1D24 | c.331G>C (p.Glu111Gln) n.513G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G= | CA2202259813 | TBC1D24 | c.331G= (p.Glu111=) n.513G= | |
16 | g.2496479G>T | CA394375546 | TBC1D24 | c.331G>T (p.Glu111Ter) n.513G>T | gnomAD v4 |
16 | g.2496480A>C | CA394375553 | TBC1D24 | c.332A>C (p.Glu111Ala) n.514A>C | |
16 | g.2496480A>G | CA394375551 | TBC1D24 | c.332A>G (p.Glu111Gly) n.514A>G | |
16 | g.2496480A>T | CA394375549 | TBC1D24 | c.332A>T (p.Glu111Val) n.514A>T | |
16 | g.2496481G>A | CA7843979 | TBC1D24 | c.333G>A (p.Glu111=) n.515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496481G>C | CA394375555 | TBC1D24 | c.333G>C (p.Glu111Asp) n.515G>C | |
16 | g.2496481G= | CA2202259814 | TBC1D24 | c.333G= (p.Glu111=) n.515G= | |
16 | g.2496481G>T | CA394375558 | TBC1D24 | c.333G>T (p.Glu111Asp) n.515G>T | ClinVar |
16 | g.2496485dup | CA2740096857 | TBC1D24 | c.337dup (p.Ala113GlyfsTer?) n.519dup | ClinVar |
16 | g.2496485del | CA2631209600 | TBC1D24 | c.337del (p.Ala113ProfsTer?) n.519del | gnomAD v4 |
16 | g.2496482G>A | CA394375560 | TBC1D24 | c.334G>A (p.Gly112Arg) n.516G>A | |
16 | g.2496482G>C | CA394375562 | TBC1D24 | c.334G>C (p.Gly112Arg) n.516G>C | gnomAD v4 COSMIC |
16 | g.2496482G>T | CA394375564 | TBC1D24 | c.334G>T (p.Gly112Trp) n.516G>T | gnomAD v4 |
16 | g.2496483G>A | CA394375566 | TBC1D24 | c.335G>A (p.Gly112Glu) n.517G>A | ClinVar gnomAD v4 |
16 | g.2496483G>C | CA394375568 | TBC1D24 | c.335G>C (p.Gly112Ala) n.517G>C | |
16 | g.2496483G>T | CA394375570 | TBC1D24 | c.335G>T (p.Gly112Val) n.517G>T | gnomAD v4 |
16 | g.2496484G>A | CA493366709 | TBC1D24 | c.336G>A (p.Gly112=) n.518G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496484G>C | CA493366710 | TBC1D24 | c.336G>C (p.Gly112=) n.518G>C | |
16 | g.2496484G= | CA2202259815 | TBC1D24 | c.336G= (p.Gly112=) n.518G= | |
16 | g.2496484G>T | CA493366712 | TBC1D24 | c.336G>T (p.Gly112=) n.518G>T | |
16 | g.2496485G>A | CA394375573 | TBC1D24 | c.337G>A (p.Ala113Thr) n.519G>A | dbSNP gnomAD v2 |
16 | g.2496485G>C | CA394375575 | TBC1D24 | c.337G>C (p.Ala113Pro) n.519G>C | gnomAD v4 |
16 | g.2496485G= | CA2202259816 | TBC1D24 | c.337G= (p.Ala113=) n.519G= | |
16 | g.2496485G>T | CA394375577 | TBC1D24 | c.337G>T (p.Ala113Ser) n.519G>T | |
16 | g.2496486C>A | CA053198 | TBC1D24 | c.338C>A (p.Ala113Asp) n.520C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496486C= | CA2202259817 | TBC1D24 | c.338C= (p.Ala113=) n.520C= | |
16 | g.2496486C>G | CA394375582 | TBC1D24 | c.338C>G (p.Ala113Gly) n.520C>G | |
16 | g.2496486C>T | CA394375580 | TBC1D24 | c.338C>T (p.Ala113Val) n.520C>T | gnomAD v4 |
16 | g.2496487C>A | CA493366713 | TBC1D24 | c.339C>A (p.Ala113=) n.521C>A | ClinVar |
16 | g.2496487C= | CA2202259818 | TBC1D24 | c.339C= (p.Ala113=) n.521C= | |
16 | g.2496487C>G | CA493366714 | TBC1D24 | c.339C>G (p.Ala113=) n.521C>G | |
16 | g.2496487C>T | CA493366715 | TBC1D24 | c.339C>T (p.Ala113=) n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496488G>A | CA319013 | TBC1D24 | c.340G>A (p.Val114Met) n.522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496488G>C | CA394375586 | TBC1D24 | c.340G>C (p.Val114Leu) n.522G>C | |
16 | g.2496488G= | CA2202259819 | TBC1D24 | c.340G= (p.Val114=) n.522G= | |
16 | g.2496488G>T | CA394375583 | TBC1D24 | c.340G>T (p.Val114Leu) n.522G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496489T>A | CA394375589 | TBC1D24 | c.341T>A (p.Val114Glu) n.523T>A | |
16 | g.2496489T>C | CA394375592 | TBC1D24 | c.341T>C (p.Val114Ala) n.523T>C | |
16 | g.2496489T>G | CA394375591 | TBC1D24 | c.341T>G (p.Val114Gly) n.523T>G | dbSNP |
16 | g.2496489T= | CA2202259820 | TBC1D24 | c.341T= (p.Val114=) n.523T= | |
16 | g.2496490G>A | CA493366717 | TBC1D24 | c.342G>A (p.Val114=) n.524G>A | dbSNP |
16 | g.2496490G>C | CA493366718 | TBC1D24 | c.342G>C (p.Val114=) n.524G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496490G= | CA2202259821 | TBC1D24 | c.342G= (p.Val114=) n.524G= | |
16 | g.2496490G>T | CA493366719 | TBC1D24 | c.342G>T (p.Val114=) n.524G>T | gnomAD v4 |
16 | g.2496491C>A | CA394375594 | TBC1D24 | c.343C>A (p.Arg115Ser) n.525C>A | |
16 | g.2496491C= | CA2202259822 | TBC1D24 | c.343C= (p.Arg115=) n.525C= | |
16 | g.2496491C>G | CA394375598 | TBC1D24 | c.343C>G (p.Arg115Gly) n.525C>G | dbSNP gnomAD v4 |
16 | g.2496491C>T | CA319015 | TBC1D24 | c.343C>T (p.Arg115Cys) n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496492G>A | CA319018 | TBC1D24 | c.344G>A (p.Arg115His) n.526G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496492G>C | CA394375603 | TBC1D24 | c.344G>C (p.Arg115Pro) n.526G>C | |
16 | g.2496492G= | CA2202259823 | TBC1D24 | c.344G= (p.Arg115=) n.526G= | |
16 | g.2496492G>T | CA7843980 | TBC1D24 | c.344G>T (p.Arg115Leu) n.526G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496493C>A | CA493366721 | TBC1D24 | c.345C>A (p.Arg115=) n.527C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496493C= | CA2202259824 | TBC1D24 | c.345C= (p.Arg115=) n.527C= | |
16 | g.2496493C>G | CA493366722 | TBC1D24 | c.345C>G (p.Arg115=) n.527C>G | |
16 | g.2496493C>T | CA493366723 | TBC1D24 | c.345C>T (p.Arg115=) n.527C>T | |
16 | g.2496494A= | CA2202259825 | TBC1D24 | c.346A= (p.Lys116=) n.528A= | |
16 | g.2496494A>C | CA394375606 | TBC1D24 | c.346A>C (p.Lys116Gln) n.528A>C | |
16 | g.2496494A>G | CA394375608 | TBC1D24 | c.346A>G (p.Lys116Glu) n.528A>G | |
16 | g.2496494A>T | CA394375609 | TBC1D24 | c.346A>T (p.Lys116Ter) n.528A>T | ClinVar dbSNP |
16 | g.2496495A= | CA2202259826 | TBC1D24 | c.347A= (p.Lys116=) n.529A= | |
16 | g.2496495A>C | CA394375610 | TBC1D24 | c.347A>C (p.Lys116Thr) n.529A>C | |
16 | g.2496495A>G | CA276809621 | TBC1D24 | c.347A>G (p.Lys116Arg) n.529A>G | dbSNP gnomAD v4 |
16 | g.2496495A>T | CA394375612 | TBC1D24 | c.347A>T (p.Lys116Met) n.529A>T | |
16 | g.2496496G>A | CA7843981 | TBC1D24 | c.348G>A (p.Lys116=) n.530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496496G>C | CA394375614 | TBC1D24 | c.348G>C (p.Lys116Asn) n.530G>C | |
16 | g.2496496G= | CA2202259827 | TBC1D24 | c.348G= (p.Lys116=) n.530G= | |
16 | g.2496496G>T | CA394375615 | TBC1D24 | c.348G>T (p.Lys116Asn) n.530G>T | ClinVar gnomAD v4 |
16 | g.2496497A>C | CA394375616 | TBC1D24 | c.349A>C (p.Ile117Leu) n.531A>C | |
16 | g.2496497A>G | CA394375618 | TBC1D24 | c.349A>G (p.Ile117Val) n.531A>G | |
16 | g.2496497A>T | CA394375620 | TBC1D24 | c.349A>T (p.Ile117Phe) n.531A>T |