Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477729T>A | CA425360167 | OTOF | c.2235A>T (p.Ile745=) c.-7A>T (n.-7A>T) c.165A>T (p.Ile55=) c.2280A>T (p.Ile760=) | COSMIC COSMIC |
2 | g.26477729T>C | CA346124060 | OTOF | c.2235A>G (p.Ile745Met) c.-7A>G (n.-7A>G) c.165A>G (p.Ile55Met) c.2280A>G (p.Ile760Met) | gnomAD v4 |
2 | g.26477729T>G | CA425360168 | OTOF | c.2235A>C (p.Ile745=) c.-7A>C (n.-7A>C) c.165A>C (p.Ile55=) c.2280A>C (p.Ile760=) | |
2 | g.26477730A= | CA1239830460 | OTOF | c.2234T= (p.Ile745=) c.-8T= (n.-8T=) c.164T= (p.Ile55=) c.2279T= (p.Ile760=) | |
2 | g.26477730A>C | CA346124064 | OTOF | c.2234T>G (p.Ile745Arg) c.-8T>G (n.-8T>G) c.164T>G (p.Ile55Arg) c.2279T>G (p.Ile760Arg) | |
2 | g.26477730A>G | CA1563999 | OTOF | c.2234T>C (p.Ile745Thr) c.-8T>C (n.-8T>C) c.164T>C (p.Ile55Thr) c.2279T>C (p.Ile760Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477730A>T | CA346124069 | OTOF | c.2234T>A (p.Ile745Lys) c.-8T>A (n.-8T>A) c.164T>A (p.Ile55Lys) c.2279T>A (p.Ile760Lys) | |
2 | g.26477731T>A | CA346124074 | OTOF | c.2233A>T (p.Ile745Leu) c.-9A>T (n.-9A>T) c.163A>T (p.Ile55Leu) c.2278A>T (p.Ile760Leu) | |
2 | g.26477731T>C | CA346124075 | OTOF | c.2233A>G (p.Ile745Val) c.-9A>G (n.-9A>G) c.163A>G (p.Ile55Val) c.2278A>G (p.Ile760Val) | dbSNP |
2 | g.26477731T>G | CA346124073 | OTOF | c.2233A>C (p.Ile745Leu) c.-9A>C (n.-9A>C) c.163A>C (p.Ile55Leu) c.2278A>C (p.Ile760Leu) | dbSNP |
2 | g.26477731T= | CA1239830461 | OTOF | c.2233A= (p.Ile745=) c.-9A= (n.-9A=) c.163A= (p.Ile55=) c.2278A= (p.Ile760=) | |
2 | g.26477732G>A | CA425360169 | OTOF | c.2232C>T (p.Asp744=) c.-10C>T (n.-10C>T) c.162C>T (p.Asp54=) c.2277C>T (p.Asp759=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477732G>C | CA346124078 | OTOF | c.2232C>G (p.Asp744Glu) c.-10C>G (n.-10C>G) c.162C>G (p.Asp54Glu) c.2277C>G (p.Asp759Glu) | |
2 | g.26477732G= | CA1239830463 | OTOF | c.2232C= (p.Asp744=) c.-10C= (n.-10C=) c.162C= (p.Asp54=) c.2277C= (p.Asp759=) | |
2 | g.26477732G>T | CA346124079 | OTOF | c.2232C>A (p.Asp744Glu) c.-10C>A (n.-10C>A) c.162C>A (p.Asp54Glu) c.2277C>A (p.Asp759Glu) | |
2 | g.26477733T>A | CA346124080 | OTOF | c.2231A>T (p.Asp744Val) c.-11A>T (n.-11A>T) c.161A>T (p.Asp54Val) c.2276A>T (p.Asp759Val) | |
2 | g.26477733T>C | CA346124082 | OTOF | c.2231A>G (p.Asp744Gly) c.-11A>G (n.-11A>G) c.161A>G (p.Asp54Gly) c.2276A>G (p.Asp759Gly) | |
2 | g.26477733T>G | CA346124083 | OTOF | c.2231A>C (p.Asp744Ala) c.-11A>C (n.-11A>C) c.161A>C (p.Asp54Ala) c.2276A>C (p.Asp759Ala) | |
2 | g.26477734C>A | CA346124089 | OTOF | c.2230G>T (p.Asp744Tyr) c.-12G>T (n.-12G>T) c.160G>T (p.Asp54Tyr) c.2275G>T (p.Asp759Tyr) | |
2 | g.26477734C= | CA1239830465 | OTOF | c.2230G= (p.Asp744=) c.-12G= (n.-12G=) c.160G= (p.Asp54=) c.2275G= (p.Asp759=) | |
2 | g.26477734C>G | CA346124093 | OTOF | c.2230G>C (p.Asp744His) c.-12G>C (n.-12G>C) c.160G>C (p.Asp54His) c.2275G>C (p.Asp759His) | |
2 | g.26477734C>T | CA1564000 | OTOF | c.2230G>A (p.Asp744Asn) c.-12G>A (n.-12G>A) c.160G>A (p.Asp54Asn) c.2275G>A (p.Asp759Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477735G>A | CA1564001 | OTOF | c.2229C>T (p.Asn743=) c.-13C>T (n.-13C>T) c.159C>T (p.Asn53=) c.2274C>T (p.Asn758=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.26477735G>C | CA346124112 | OTOF | c.2229C>G (p.Asn743Lys) c.-13C>G (n.-13C>G) c.159C>G (p.Asn53Lys) c.2274C>G (p.Asn758Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477735G= | CA1239830467 | OTOF | c.2229C= (p.Asn743=) c.-13C= (n.-13C=) c.159C= (p.Asn53=) c.2274C= (p.Asn758=) | |
2 | g.26477735G>T | CA346124116 | OTOF | c.2229C>A (p.Asn743Lys) c.-13C>A (n.-13C>A) c.159C>A (p.Asn53Lys) c.2274C>A (p.Asn758Lys) | |
2 | g.26477736T>A | CA346124117 | OTOF | c.2228A>T (p.Asn743Ile) c.-14A>T (n.-14A>T) c.158A>T (p.Asn53Ile) c.2273A>T (p.Asn758Ile) | |
2 | g.26477736T>C | CA346124118 | OTOF | c.2228A>G (p.Asn743Ser) c.-14A>G (n.-14A>G) c.158A>G (p.Asn53Ser) c.2273A>G (p.Asn758Ser) | |
2 | g.26477736T>G | CA346124135 | OTOF | c.2228A>C (p.Asn743Thr) c.-14A>C (n.-14A>C) c.158A>C (p.Asn53Thr) c.2273A>C (p.Asn758Thr) | |
2 | g.26477737T>A | CA346124142 | OTOF | c.2227A>T (p.Asn743Tyr) c.-15A>T (n.-15A>T) c.157A>T (p.Asn53Tyr) c.2272A>T (p.Asn758Tyr) | |
2 | g.26477737T>C | CA1564002 | OTOF | c.2227A>G (p.Asn743Asp) c.-15A>G (n.-15A>G) c.157A>G (p.Asn53Asp) c.2272A>G (p.Asn758Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477737T>G | CA346124140 | OTOF | c.2227A>C (p.Asn743His) c.-15A>C (n.-15A>C) c.157A>C (p.Asn53His) c.2272A>C (p.Asn758His) | |
2 | g.26477737T= | CA1239830469 | OTOF | c.2227A= (p.Asn743=) c.-15A= (n.-15A=) c.157A= (p.Asn53=) c.2272A= (p.Asn758=) | |
2 | g.26477738C>A | CA425360171 | OTOF | c.2226G>T (p.Leu742=) c.-16G>T (n.-16G>T) c.156G>T (p.Leu52=) c.2271G>T (p.Leu757=) | |
2 | g.26477738C>G | CA425360170 | OTOF | c.2226G>C (p.Leu742=) c.-16G>C (n.-16G>C) c.156G>C (p.Leu52=) c.2271G>C (p.Leu757=) | |
2 | g.26477738C>T | CA425360172 | OTOF | c.2226G>A (p.Leu742=) c.-16G>A (n.-16G>A) c.156G>A (p.Leu52=) c.2271G>A (p.Leu757=) | gnomAD v4 |
2 | g.26477739A>C | CA346124143 | OTOF | c.2225T>G (p.Leu742Arg) c.-17T>G (n.-17T>G) c.155T>G (p.Leu52Arg) c.2270T>G (p.Leu757Arg) | |
2 | g.26477739A>G | CA346124144 | OTOF | c.2225T>C (p.Leu742Pro) c.-17T>C (n.-17T>C) c.155T>C (p.Leu52Pro) c.2270T>C (p.Leu757Pro) | |
2 | g.26477739A>T | CA346124145 | OTOF | c.2225T>A (p.Leu742Gln) c.-17T>A (n.-17T>A) c.155T>A (p.Leu52Gln) c.2270T>A (p.Leu757Gln) | |
2 | g.26477740G>A | CA425360173 | OTOF | c.2224C>T (p.Leu742=) c.-18C>T (n.-18C>T) c.154C>T (p.Leu52=) c.2269C>T (p.Leu757=) | |
2 | g.26477740G>C | CA346124148 | OTOF | c.2224C>G (p.Leu742Val) c.-18C>G (n.-18C>G) c.154C>G (p.Leu52Val) c.2269C>G (p.Leu757Val) | gnomAD v4 |
2 | g.26477740G>T | CA346124157 | OTOF | c.2224C>A (p.Leu742Met) c.-18C>A (n.-18C>A) c.154C>A (p.Leu52Met) c.2269C>A (p.Leu757Met) | dbSNP |
2 | g.26477741G>A | CA425360174 | OTOF | c.2223C>T (p.Gly741=) c.-19C>T (n.-19C>T) c.153C>T (p.Gly51=) c.2268C>T (p.Gly756=) | gnomAD v4 |
2 | g.26477741G>C | CA425360175 | OTOF | c.2223C>G (p.Gly741=) c.-19C>G (n.-19C>G) c.153C>G (p.Gly51=) c.2268C>G (p.Gly756=) | |
2 | g.26477741G>T | CA425360176 | OTOF | c.2223C>A (p.Gly741=) c.-19C>A (n.-19C>A) c.153C>A (p.Gly51=) c.2268C>A (p.Gly756=) | ClinVar |
2 | g.26477742C>A | CA44398729 | OTOF | c.2222G>T (p.Gly741Val) c.-20G>T (n.-20G>T) c.152G>T (p.Gly51Val) c.2267G>T (p.Gly756Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477742C= | CA1239830471 | OTOF | c.2222G= (p.Gly741=) c.-20G= (n.-20G=) c.152G= (p.Gly51=) c.2267G= (p.Gly756=) | |
2 | g.26477742C>G | CA346124164 | OTOF | c.2222G>C (p.Gly741Ala) c.-20G>C (n.-20G>C) c.152G>C (p.Gly51Ala) c.2267G>C (p.Gly756Ala) | gnomAD v4 |
2 | g.26477742C>T | CA346124170 | OTOF | c.2222G>A (p.Gly741Asp) c.-20G>A (n.-20G>A) c.152G>A (p.Gly51Asp) c.2267G>A (p.Gly756Asp) | |
2 | g.26477743C>A | CA346124188 | OTOF | c.2221G>T (p.Gly741Cys) c.-21G>T (n.-21G>T) c.151G>T (p.Gly51Cys) c.2266G>T (p.Gly756Cys) |