Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26475981_26476000delinsGCGGCAAAGAGGCTGCGGGC | CA1239827751 | OTOF | c.2905_2924delinsGCCCGCAGCCTCTTTGCCGC (p.Ala969=) c.664_683delinsGCCCGCAGCCTCTTTGCCGC (p.Ala222=) c.835_854delinsGCCCGCAGCCTCTTTGCCGC (p.Ala279=) c.2950_2969delinsGCCCGCAGCCTCTTTGCCGC (p.Ala984=) | |
2 | g.26475982_26476000delinsTGCGCTCGGAG | CA345111 | OTOF | c.2905_2923delinsCTCCGAGCGCA (p.Ala969LeufsTer30) c.664_682delinsCTCCGAGCGCA (p.Ala222LeufsTer30) c.835_853delinsCTCCGAGCGCA (p.Ala279LeufsTer30) c.2950_2968delinsCTCCGAGCGCA (p.Ala984LeufsTer30) | ClinVar dbSNP |
2 | g.26475990A>C | CA346113212 | OTOF | c.2915T>G (p.Leu972Arg) c.674T>G (p.Leu225Arg) c.845T>G (p.Leu282Arg) c.2960T>G (p.Leu987Arg) | |
2 | g.26475990A>G | CA346113216 | OTOF | c.2915T>C (p.Leu972Pro) c.674T>C (p.Leu225Pro) c.845T>C (p.Leu282Pro) c.2960T>C (p.Leu987Pro) | |
2 | g.26475990A>T | CA346113221 | OTOF | c.2915T>A (p.Leu972His) c.674T>A (p.Leu225His) c.845T>A (p.Leu282His) c.2960T>A (p.Leu987His) | |
2 | g.26475991G>A | CA346113232 | OTOF | c.2914C>T (p.Leu972Phe) c.673C>T (p.Leu225Phe) c.844C>T (p.Leu282Phe) c.2959C>T (p.Leu987Phe) | |
2 | g.26475991G>C | CA346113235 | OTOF | c.2914C>G (p.Leu972Val) c.673C>G (p.Leu225Val) c.844C>G (p.Leu282Val) c.2959C>G (p.Leu987Val) | |
2 | g.26475991G>T | CA346113261 | OTOF | c.2914C>A (p.Leu972Ile) c.673C>A (p.Leu225Ile) c.844C>A (p.Leu282Ile) c.2959C>A (p.Leu987Ile) | |
2 | g.26475992G>A | CA425360006 | OTOF | c.2913C>T (p.Ser971=) c.672C>T (p.Ser224=) c.843C>T (p.Ser281=) c.2958C>T (p.Ser986=) | gnomAD v4 |
2 | g.26475992G>C | CA44397845 | OTOF | c.2913C>G (p.Ser971Arg) c.672C>G (p.Ser224Arg) c.843C>G (p.Ser281Arg) c.2958C>G (p.Ser986Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475992G= | CA1239827767 | OTOF | c.2913C= (p.Ser971=) c.672C= (p.Ser224=) c.843C= (p.Ser281=) c.2958C= (p.Ser986=) | |
2 | g.26475992G>T | CA346113270 | OTOF | c.2913C>A (p.Ser971Arg) c.672C>A (p.Ser224Arg) c.843C>A (p.Ser281Arg) c.2958C>A (p.Ser986Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475993C>A | CA346113284 | OTOF | c.2912G>T (p.Ser971Ile) c.671G>T (p.Ser224Ile) c.842G>T (p.Ser281Ile) c.2957G>T (p.Ser986Ile) | |
2 | g.26475993C>G | CA346113305 | OTOF | c.2912G>C (p.Ser971Thr) c.671G>C (p.Ser224Thr) c.842G>C (p.Ser281Thr) c.2957G>C (p.Ser986Thr) | |
2 | g.26475993C>T | CA346113316 | OTOF | c.2912G>A (p.Ser971Asn) c.671G>A (p.Ser224Asn) c.842G>A (p.Ser281Asn) c.2957G>A (p.Ser986Asn) | |
2 | g.26475994T>A | CA346113322 | OTOF | c.2911A>T (p.Ser971Cys) c.670A>T (p.Ser224Cys) c.841A>T (p.Ser281Cys) c.2956A>T (p.Ser986Cys) | |
2 | g.26475994T>C | CA346113324 | OTOF | c.2911A>G (p.Ser971Gly) c.670A>G (p.Ser224Gly) c.841A>G (p.Ser281Gly) c.2956A>G (p.Ser986Gly) | gnomAD v4 |
2 | g.26475994T>G | CA346113325 | OTOF | c.2911A>C (p.Ser971Arg) c.670A>C (p.Ser224Arg) c.841A>C (p.Ser281Arg) c.2956A>C (p.Ser986Arg) | |
2 | g.26475995G>A | CA425360011 | OTOF | c.2910C>T (p.Arg970=) c.669C>T (p.Arg223=) c.840C>T (p.Arg280=) c.2955C>T (p.Arg985=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475995G>C | CA425360012 | OTOF | c.2910C>G (p.Arg970=) c.669C>G (p.Arg223=) c.840C>G (p.Arg280=) c.2955C>G (p.Arg985=) | |
2 | g.26475995G= | CA1239827768 | OTOF | c.2910C= (p.Arg970=) c.669C= (p.Arg223=) c.840C= (p.Arg280=) c.2955C= (p.Arg985=) | |
2 | g.26475995G>T | CA425360014 | OTOF | c.2910C>A (p.Arg970=) c.669C>A (p.Arg223=) c.840C>A (p.Arg280=) c.2955C>A (p.Arg985=) | |
2 | g.26475996C>A | CA346113335 | OTOF | c.2909G>T (p.Arg970Leu) c.668G>T (p.Arg223Leu) c.839G>T (p.Arg280Leu) c.2954G>T (p.Arg985Leu) | |
2 | g.26475996C= | CA1239827771 | OTOF | c.2909G= (p.Arg970=) c.668G= (p.Arg223=) c.839G= (p.Arg280=) c.2954G= (p.Arg985=) | |
2 | g.26475996C>G | CA346113337 | OTOF | c.2909G>C (p.Arg970Pro) c.668G>C (p.Arg223Pro) c.839G>C (p.Arg280Pro) c.2954G>C (p.Arg985Pro) | |
2 | g.26475996C>T | CA346113339 | OTOF | c.2909G>A (p.Arg970His) c.668G>A (p.Arg223His) c.839G>A (p.Arg280His) c.2954G>A (p.Arg985His) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475997G>A | CA142832 | OTOF | c.2908C>T (p.Arg970Cys) c.667C>T (p.Arg223Cys) c.838C>T (p.Arg280Cys) c.2953C>T (p.Arg985Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475997G>C | CA346113345 | OTOF | c.2908C>G (p.Arg970Gly) c.667C>G (p.Arg223Gly) c.838C>G (p.Arg280Gly) c.2953C>G (p.Arg985Gly) | |
2 | g.26475997G= | CA1239827773 | OTOF | c.2908C= (p.Arg970=) c.667C= (p.Arg223=) c.838C= (p.Arg280=) c.2953C= (p.Arg985=) | |
2 | g.26475997G>T | CA346113370 | OTOF | c.2908C>A (p.Arg970Ser) c.667C>A (p.Arg223Ser) c.838C>A (p.Arg280Ser) c.2953C>A (p.Arg985Ser) | |
2 | g.26475998G>A | CA425360023 | OTOF | c.2907C>T (p.Ala969=) c.666C>T (p.Ala222=) c.837C>T (p.Ala279=) c.2952C>T (p.Ala984=) | |
2 | g.26475998G>C | CA425360024 | OTOF | c.2907C>G (p.Ala969=) c.666C>G (p.Ala222=) c.837C>G (p.Ala279=) c.2952C>G (p.Ala984=) | |
2 | g.26475998G>T | CA425360026 | OTOF | c.2907C>A (p.Ala969=) c.666C>A (p.Ala222=) c.837C>A (p.Ala279=) c.2952C>A (p.Ala984=) | |
2 | g.26475999G>A | CA346113382 | OTOF | c.2906C>T (p.Ala969Val) c.665C>T (p.Ala222Val) c.836C>T (p.Ala279Val) c.2951C>T (p.Ala984Val) | |
2 | g.26475999G>C | CA346113378 | OTOF | c.2906C>G (p.Ala969Gly) c.665C>G (p.Ala222Gly) c.836C>G (p.Ala279Gly) c.2951C>G (p.Ala984Gly) | |
2 | g.26475999G>T | CA346113374 | OTOF | c.2906C>A (p.Ala969Asp) c.665C>A (p.Ala222Asp) c.836C>A (p.Ala279Asp) c.2951C>A (p.Ala984Asp) | |
2 | g.26476000C>A | CA346113384 | OTOF | c.2905G>T (p.Ala969Ser) c.664G>T (p.Ala222Ser) c.835G>T (p.Ala279Ser) c.2950G>T (p.Ala984Ser) | |
2 | g.26476000C>G | CA346113385 | OTOF | c.2905G>C (p.Ala969Pro) c.664G>C (p.Ala222Pro) c.835G>C (p.Ala279Pro) c.2950G>C (p.Ala984Pro) | |
2 | g.26476000C>T | CA346113391 | OTOF | c.2905G>A (p.Ala969Thr) c.664G>A (p.Ala222Thr) c.835G>A (p.Ala279Thr) c.2950G>A (p.Ala984Thr) | |
2 | g.26476001C>A | CA346113396 | OTOF | c.2904G>T (p.Gln968His) c.663G>T (p.Gln221His) c.834G>T (p.Gln278His) c.2949G>T (p.Gln983His) | |
2 | g.26476001C>G | CA346113401 | OTOF | c.2904G>C (p.Gln968His) c.663G>C (p.Gln221His) c.834G>C (p.Gln278His) c.2949G>C (p.Gln983His) | |
2 | g.26476001C>T | CA425360032 | OTOF | c.2904G>A (p.Gln968=) c.663G>A (p.Gln221=) c.834G>A (p.Gln278=) c.2949G>A (p.Gln983=) | dbSNP |
2 | g.26476002T>A | CA346113403 | OTOF | c.2903A>T (p.Gln968Leu) c.662A>T (p.Gln221Leu) c.833A>T (p.Gln278Leu) c.2948A>T (p.Gln983Leu) | |
2 | g.26476002T>C | CA1563727 | OTOF | c.2903A>G (p.Gln968Arg) c.662A>G (p.Gln221Arg) c.833A>G (p.Gln278Arg) c.2948A>G (p.Gln983Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26476002T>G | CA346113408 | OTOF | c.2903A>C (p.Gln968Pro) c.662A>C (p.Gln221Pro) c.833A>C (p.Gln278Pro) c.2948A>C (p.Gln983Pro) | |
2 | g.26476002T= | CA1239827774 | OTOF | c.2903A= (p.Gln968=) c.662A= (p.Gln221=) c.833A= (p.Gln278=) c.2948A= (p.Gln983=) | |
2 | g.26476003G>A | CA346113426 | OTOF | c.2902C>T (p.Gln968Ter) c.661C>T (p.Gln221Ter) c.832C>T (p.Gln278Ter) c.2947C>T (p.Gln983Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26476003G>C | CA346113435 | OTOF | c.2902C>G (p.Gln968Glu) c.661C>G (p.Gln221Glu) c.832C>G (p.Gln278Glu) c.2947C>G (p.Gln983Glu) | |
2 | g.26476003G= | CA1239827776 | OTOF | c.2902C= (p.Gln968=) c.661C= (p.Gln221=) c.832C= (p.Gln278=) c.2947C= (p.Gln983=) | |
2 | g.26476003G>T | CA346113440 | OTOF | c.2902C>A (p.Gln968Lys) c.661C>A (p.Gln221Lys) c.832C>A (p.Gln278Lys) c.2947C>A (p.Gln983Lys) |