Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477406G>A | CA1563933 | OTOF | c.2406+10C>T (n.2406+10C>T) c.165+10C>T (n.165+10C>T) c.336+10C>T (n.336+10C>T) c.2451+10C>T (n.2451+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477406G= | CA1239830023 | OTOF | c.2406+10C= (n.2406+10C=) c.165+10C= (n.165+10C=) c.336+10C= (n.336+10C=) c.2451+10C= (n.2451+10C=) | |
2 | g.26477406G>T | CA2658237952 | OTOF | c.2406+10C>A (n.2406+10C>A) c.165+10C>A (n.165+10C>A) c.336+10C>A (n.336+10C>A) c.2451+10C>A (n.2451+10C>A) | gnomAD v4 |
2 | g.26477407C>A | CA1239830026 | OTOF | c.2406+9G>T (n.2406+9G>T) c.165+9G>T (n.165+9G>T) c.336+9G>T (n.336+9G>T) c.2451+9G>T (n.2451+9G>T) | dbSNP gnomAD v4 |
2 | g.26477407C= | CA1239830025 | OTOF | c.2406+9G= (n.2406+9G=) c.165+9G= (n.165+9G=) c.336+9G= (n.336+9G=) c.2451+9G= (n.2451+9G=) | |
2 | g.26477407C>T | CA142802 | OTOF | c.2406+9G>A (n.2406+9G>A) c.165+9G>A (n.165+9G>A) c.336+9G>A (n.336+9G>A) c.2451+9G>A (n.2451+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477408G>A | CA1563934 | OTOF | c.2406+8C>T (n.2406+8C>T) c.165+8C>T (n.165+8C>T) c.336+8C>T (n.336+8C>T) c.2451+8C>T (n.2451+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477408G= | CA1239830027 | OTOF | c.2406+8C= (n.2406+8C=) c.165+8C= (n.165+8C=) c.336+8C= (n.336+8C=) c.2451+8C= (n.2451+8C=) | |
2 | g.26477409T>C | CA531761863 | OTOF | c.2406+7A>G (n.2406+7A>G) c.165+7A>G (n.165+7A>G) c.336+7A>G (n.336+7A>G) c.2451+7A>G (n.2451+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477409T= | CA1239830033 | OTOF | c.2406+7A= (n.2406+7A=) c.165+7A= (n.165+7A=) c.336+7A= (n.336+7A=) c.2451+7A= (n.2451+7A=) | |
2 | g.26477410C>A | CA2658237953 | OTOF | c.2406+6G>T (n.2406+6G>T) c.165+6G>T (n.165+6G>T) c.336+6G>T (n.336+6G>T) c.2451+6G>T (n.2451+6G>T) | gnomAD v4 |
2 | g.26477410C>T | CA2658237954 | OTOF | c.2406+6G>A (n.2406+6G>A) c.165+6G>A (n.165+6G>A) c.336+6G>A (n.336+6G>A) c.2451+6G>A (n.2451+6G>A) | gnomAD v4 |
2 | g.26477412T>C | CA2573134381 | OTOF | c.2406+4A>G (n.2406+4A>G) c.165+4A>G (n.165+4A>G) c.336+4A>G (n.336+4A>G) c.2451+4A>G (n.2451+4A>G) | ClinVar dbSNP |
2 | g.26477413C>A | CA2658237955 | OTOF | c.2406+3G>T (n.2406+3G>T) c.165+3G>T (n.165+3G>T) c.336+3G>T (n.336+3G>T) c.2451+3G>T (n.2451+3G>T) | gnomAD v4 |
2 | g.26477413C= | CA1239830035 | OTOF | c.2406+3G= (n.2406+3G=) c.165+3G= (n.165+3G=) c.336+3G= (n.336+3G=) c.2451+3G= (n.2451+3G=) | |
2 | g.26477413C>T | CA531761864 | OTOF | c.2406+3G>A (n.2406+3G>A) c.165+3G>A (n.165+3G>A) c.336+3G>A (n.336+3G>A) c.2451+3G>A (n.2451+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477414A>C | CA346122903 | OTOF | c.2406+2T>G (n.2406+2T>G) c.165+2T>G (n.165+2T>G) c.336+2T>G (n.336+2T>G) c.2451+2T>G (n.2451+2T>G) | |
2 | g.26477414A>G | CA346122916 | OTOF | c.2406+2T>C (n.2406+2T>C) c.165+2T>C (n.165+2T>C) c.336+2T>C (n.336+2T>C) c.2451+2T>C (n.2451+2T>C) | gnomAD v4 |
2 | g.26477414A>T | CA346122920 | OTOF | c.2406+2T>A (n.2406+2T>A) c.165+2T>A (n.165+2T>A) c.336+2T>A (n.336+2T>A) c.2451+2T>A (n.2451+2T>A) | gnomAD v4 |
2 | g.26477414dup | CA2573051914 | OTOF | c.2406+2dup (n.2406+2dup) c.165+2dup (n.165+2dup) c.336+2dup (n.336+2dup) c.2451+2dup (n.2451+2dup) | ClinVar dbSNP |
2 | g.26477415C>A | CA346122923 | OTOF | c.2406+1G>T (n.2406+1G>T) c.165+1G>T (n.165+1G>T) c.336+1G>T (n.336+1G>T) c.2451+1G>T (n.2451+1G>T) | |
2 | g.26477415C= | CA1239830037 | OTOF | c.2406+1G= (n.2406+1G=) c.165+1G= (n.165+1G=) c.336+1G= (n.336+1G=) c.2451+1G= (n.2451+1G=) | |
2 | g.26477415C>G | CA346122924 | OTOF | c.2406+1G>C (n.2406+1G>C) c.165+1G>C (n.165+1G>C) c.336+1G>C (n.336+1G>C) c.2451+1G>C (n.2451+1G>C) | |
2 | g.26477415C>T | CA44398460 | OTOF | c.2406+1G>A (n.2406+1G>A) c.165+1G>A (n.165+1G>A) c.336+1G>A (n.336+1G>A) c.2451+1G>A (n.2451+1G>A) | dbSNP |
2 | g.26477416C>A | CA425360020 | OTOF | c.2406G>T (p.Leu802=) c.165G>T (p.Leu55=) c.336G>T (p.Leu112=) c.2451G>T (p.Leu817=) | gnomAD v4 |
2 | g.26477416C>G | CA425360021 | OTOF | c.2406G>C (p.Leu802=) c.165G>C (p.Leu55=) c.336G>C (p.Leu112=) c.2451G>C (p.Leu817=) | |
2 | g.26477416C>T | CA425360022 | OTOF | c.2406G>A (p.Leu802=) c.165G>A (p.Leu55=) c.336G>A (p.Leu112=) c.2451G>A (p.Leu817=) | gnomAD v4 |
2 | g.26477417A>C | CA346122926 | OTOF | c.2405T>G (p.Leu802Arg) c.164T>G (p.Leu55Arg) c.335T>G (p.Leu112Arg) c.2450T>G (p.Leu817Arg) | |
2 | g.26477417A>G | CA346122932 | OTOF | c.2405T>C (p.Leu802Pro) c.164T>C (p.Leu55Pro) c.335T>C (p.Leu112Pro) c.2450T>C (p.Leu817Pro) | gnomAD v4 |
2 | g.26477417A>T | CA346122929 | OTOF | c.2405T>A (p.Leu802Gln) c.164T>A (p.Leu55Gln) c.335T>A (p.Leu112Gln) c.2450T>A (p.Leu817Gln) | |
2 | g.26477418G>A | CA425360027 | OTOF | c.2404C>T (p.Leu802=) c.163C>T (p.Leu55=) c.334C>T (p.Leu112=) c.2449C>T (p.Leu817=) | dbSNP gnomAD v4 |
2 | g.26477418G>C | CA346122935 | OTOF | c.2404C>G (p.Leu802Val) c.163C>G (p.Leu55Val) c.334C>G (p.Leu112Val) c.2449C>G (p.Leu817Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477418G= | CA1239830042 | OTOF | c.2404C= (p.Leu802=) c.163C= (p.Leu55=) c.334C= (p.Leu112=) c.2449C= (p.Leu817=) | |
2 | g.26477418G>T | CA346122937 | OTOF | c.2404C>A (p.Leu802Met) c.163C>A (p.Leu55Met) c.334C>A (p.Leu112Met) c.2449C>A (p.Leu817Met) | gnomAD v4 |
2 | g.26477419C>A | CA346122941 | OTOF | c.2403G>T (p.Glu801Asp) c.162G>T (p.Glu54Asp) c.333G>T (p.Glu111Asp) c.2448G>T (p.Glu816Asp) | gnomAD v4 |
2 | g.26477419C>G | CA346122945 | OTOF | c.2403G>C (p.Glu801Asp) c.162G>C (p.Glu54Asp) c.333G>C (p.Glu111Asp) c.2448G>C (p.Glu816Asp) | |
2 | g.26477419C>T | CA425360029 | OTOF | c.2403G>A (p.Glu801=) c.162G>A (p.Glu54=) c.333G>A (p.Glu111=) c.2448G>A (p.Glu816=) | |
2 | g.26477420T>A | CA1563935 | OTOF | c.2402A>T (p.Glu801Val) c.161A>T (p.Glu54Val) c.332A>T (p.Glu111Val) c.2447A>T (p.Glu816Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477420T>C | CA346122955 | OTOF | c.2402A>G (p.Glu801Gly) c.161A>G (p.Glu54Gly) c.332A>G (p.Glu111Gly) c.2447A>G (p.Glu816Gly) | |
2 | g.26477420T>G | CA346122959 | OTOF | c.2402A>C (p.Glu801Ala) c.161A>C (p.Glu54Ala) c.332A>C (p.Glu111Ala) c.2447A>C (p.Glu816Ala) | |
2 | g.26477420T= | CA1239830048 | OTOF | c.2402A= (p.Glu801=) c.161A= (p.Glu54=) c.332A= (p.Glu111=) c.2447A= (p.Glu816=) | |
2 | g.26477420_26477421delinsAA | CA142800 | OTOF | c.2401_2402delinsTT (p.Glu801Leu) c.160_161delinsTT (p.Glu54Leu) c.331_332delinsTT (p.Glu111Leu) c.2446_2447delinsTT (p.Glu816Leu) | ClinVar dbSNP |
2 | g.26477420_26477421delinsTC | CA1239830050 | OTOF | c.2401_2402delinsGA (p.Glu801=) c.160_161delinsGA (p.Glu54=) c.331_332delinsGA (p.Glu111=) c.2446_2447delinsGA (p.Glu816=) | |
2 | g.26477421C>A | CA1563936 | OTOF | c.2401G>T (p.Glu801Ter) c.160G>T (p.Glu54Ter) c.331G>T (p.Glu111Ter) c.2446G>T (p.Glu816Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477421C= | CA1239830055 | OTOF | c.2401G= (p.Glu801=) c.160G= (p.Glu54=) c.331G= (p.Glu111=) c.2446G= (p.Glu816=) | |
2 | g.26477421C>G | CA346122971 | OTOF | c.2401G>C (p.Glu801Gln) c.160G>C (p.Glu54Gln) c.331G>C (p.Glu111Gln) c.2446G>C (p.Glu816Gln) | |
2 | g.26477421C>T | CA346122973 | OTOF | c.2401G>A (p.Glu801Lys) c.160G>A (p.Glu54Lys) c.331G>A (p.Glu111Lys) c.2446G>A (p.Glu816Lys) | |
2 | g.26477422C>A | CA346122977 | OTOF | c.2400G>T (p.Arg800Ser) c.159G>T (p.Arg53Ser) c.330G>T (p.Arg110Ser) c.2445G>T (p.Arg815Ser) | |
2 | g.26477422C= | CA1239830059 | OTOF | c.2400G= (p.Arg800=) c.159G= (p.Arg53=) c.330G= (p.Arg110=) c.2445G= (p.Arg815=) | |
2 | g.26477422C>G | CA346122979 | OTOF | c.2400G>C (p.Arg800Ser) c.159G>C (p.Arg53Ser) c.330G>C (p.Arg110Ser) c.2445G>C (p.Arg815Ser) | gnomAD v4 |