| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26465752_26465754del | CA2658234257 | OTOF | c.4717_4719del (p.Ile1573del) c.2416_2418del (p.Ile806del) c.2476_2478del (p.Ile826del) c.2647_2649del (p.Ile883del) n.466_468del c.4702_4704del (p.Ile1568del) c.4762_4764del (p.Ile1588del) c.4657_4659del (p.Ile1553del) | gnomAD v4 |
| 2 | g.26465753A= | CA1239816678 | OTOF | c.4718T= (p.Ile1573=) c.2417T= (p.Ile806=) c.2477T= (p.Ile826=) c.2648T= (p.Ile883=) n.467T= c.4703T= (p.Ile1568=) c.4763T= (p.Ile1588=) c.4658T= (p.Ile1553=) | |
| 2 | g.26465753A>C | CA346135473 | OTOF | c.4718T>G (p.Ile1573Ser) c.2417T>G (p.Ile806Ser) c.2477T>G (p.Ile826Ser) c.2648T>G (p.Ile883Ser) n.467T>G c.4703T>G (p.Ile1568Ser) c.4763T>G (p.Ile1588Ser) c.4658T>G (p.Ile1553Ser) | |
| 2 | g.26465753A>G | CA344698 | OTOF | c.4718T>C (p.Ile1573Thr) c.2417T>C (p.Ile806Thr) c.2477T>C (p.Ile826Thr) c.2648T>C (p.Ile883Thr) n.467T>C c.4703T>C (p.Ile1568Thr) c.4763T>C (p.Ile1588Thr) c.4658T>C (p.Ile1553Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465753A>T | CA346135472 | OTOF | c.4718T>A (p.Ile1573Asn) c.2417T>A (p.Ile806Asn) c.2477T>A (p.Ile826Asn) c.2648T>A (p.Ile883Asn) n.467T>A c.4703T>A (p.Ile1568Asn) c.4763T>A (p.Ile1588Asn) c.4658T>A (p.Ile1553Asn) | |
| 2 | g.26465754T>A | CA346135474 | OTOF | c.4717A>T (p.Ile1573Phe) c.2416A>T (p.Ile806Phe) c.2476A>T (p.Ile826Phe) c.2647A>T (p.Ile883Phe) n.466A>T c.4702A>T (p.Ile1568Phe) c.4762A>T (p.Ile1588Phe) c.4657A>T (p.Ile1553Phe) | |
| 2 | g.26465754T>C | CA346135476 | OTOF | c.4717A>G (p.Ile1573Val) c.2416A>G (p.Ile806Val) c.2476A>G (p.Ile826Val) c.2647A>G (p.Ile883Val) n.466A>G c.4702A>G (p.Ile1568Val) c.4762A>G (p.Ile1588Val) c.4657A>G (p.Ile1553Val) | |
| 2 | g.26465754T>G | CA346135475 | OTOF | c.4717A>C (p.Ile1573Leu) c.2416A>C (p.Ile806Leu) c.2476A>C (p.Ile826Leu) c.2647A>C (p.Ile883Leu) n.466A>C c.4702A>C (p.Ile1568Leu) c.4762A>C (p.Ile1588Leu) c.4657A>C (p.Ile1553Leu) | gnomAD v4 |
| 2 | g.26465755G>A | CA425359453 | OTOF | c.4716C>T (p.Leu1572=) c.2415C>T (p.Leu805=) c.2475C>T (p.Leu825=) c.2646C>T (p.Leu882=) n.465C>T c.4701C>T (p.Leu1567=) c.4761C>T (p.Leu1587=) c.4656C>T (p.Leu1552=) | |
| 2 | g.26465755G>C | CA425359454 | OTOF | c.4716C>G (p.Leu1572=) c.2415C>G (p.Leu805=) c.2475C>G (p.Leu825=) c.2646C>G (p.Leu882=) n.465C>G c.4701C>G (p.Leu1567=) c.4761C>G (p.Leu1587=) c.4656C>G (p.Leu1552=) | |
| 2 | g.26465755G= | CA1239816680 | OTOF | c.4716C= (p.Leu1572=) c.2415C= (p.Leu805=) c.2475C= (p.Leu825=) c.2646C= (p.Leu882=) n.465C= c.4701C= (p.Leu1567=) c.4761C= (p.Leu1587=) c.4656C= (p.Leu1552=) | |
| 2 | g.26465755G>T | CA1563066 | OTOF | c.4716C>A (p.Leu1572=) c.2415C>A (p.Leu805=) c.2475C>A (p.Leu825=) c.2646C>A (p.Leu882=) n.465C>A c.4701C>A (p.Leu1567=) c.4761C>A (p.Leu1587=) c.4656C>A (p.Leu1552=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465756A= | CA1239816682 | OTOF | c.4715T= (p.Leu1572=) c.2414T= (p.Leu805=) c.2474T= (p.Leu825=) c.2645T= (p.Leu882=) n.464T= c.4700T= (p.Leu1567=) c.4760T= (p.Leu1587=) c.4655T= (p.Leu1552=) | |
| 2 | g.26465756A>C | CA346135477 | OTOF | c.4715T>G (p.Leu1572Arg) c.2414T>G (p.Leu805Arg) c.2474T>G (p.Leu825Arg) c.2645T>G (p.Leu882Arg) n.464T>G c.4700T>G (p.Leu1567Arg) c.4760T>G (p.Leu1587Arg) c.4655T>G (p.Leu1552Arg) | |
| 2 | g.26465756A>G | CA346135478 | OTOF | c.4715T>C (p.Leu1572Pro) c.2414T>C (p.Leu805Pro) c.2474T>C (p.Leu825Pro) c.2645T>C (p.Leu882Pro) n.464T>C c.4700T>C (p.Leu1567Pro) c.4760T>C (p.Leu1587Pro) c.4655T>C (p.Leu1552Pro) | dbSNP |
| 2 | g.26465756A>T | CA346135479 | OTOF | c.4715T>A (p.Leu1572His) c.2414T>A (p.Leu805His) c.2474T>A (p.Leu825His) c.2645T>A (p.Leu882His) n.464T>A c.4700T>A (p.Leu1567His) c.4760T>A (p.Leu1587His) c.4655T>A (p.Leu1552His) | |
| 2 | g.26465757G>A | CA346135480 | OTOF | c.4714C>T (p.Leu1572Phe) c.2413C>T (p.Leu805Phe) c.2473C>T (p.Leu825Phe) c.2644C>T (p.Leu882Phe) n.463C>T c.4699C>T (p.Leu1567Phe) c.4759C>T (p.Leu1587Phe) c.4654C>T (p.Leu1552Phe) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465757G>C | CA346135481 | OTOF | c.4714C>G (p.Leu1572Val) c.2413C>G (p.Leu805Val) c.2473C>G (p.Leu825Val) c.2644C>G (p.Leu882Val) n.463C>G c.4699C>G (p.Leu1567Val) c.4759C>G (p.Leu1587Val) c.4654C>G (p.Leu1552Val) | gnomAD v4 |
| 2 | g.26465757G= | CA1239816684 | OTOF | c.4714C= (p.Leu1572=) c.2413C= (p.Leu805=) c.2473C= (p.Leu825=) c.2644C= (p.Leu882=) n.463C= c.4699C= (p.Leu1567=) c.4759C= (p.Leu1587=) c.4654C= (p.Leu1552=) | |
| 2 | g.26465757G>T | CA346135482 | OTOF | c.4714C>A (p.Leu1572Ile) c.2413C>A (p.Leu805Ile) c.2473C>A (p.Leu825Ile) c.2644C>A (p.Leu882Ile) n.463C>A c.4699C>A (p.Leu1567Ile) c.4759C>A (p.Leu1587Ile) c.4654C>A (p.Leu1552Ile) | |
| 2 | g.26465758G>A | CA1563067 | OTOF | c.4713C>T (p.Asp1571=) c.2412C>T (p.Asp804=) c.2472C>T (p.Asp824=) c.2643C>T (p.Asp881=) n.462C>T c.4698C>T (p.Asp1566=) c.4758C>T (p.Asp1586=) c.4653C>T (p.Asp1551=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465758G>C | CA346135484 | OTOF | c.4713C>G (p.Asp1571Glu) c.2412C>G (p.Asp804Glu) c.2472C>G (p.Asp824Glu) c.2643C>G (p.Asp881Glu) n.462C>G c.4698C>G (p.Asp1566Glu) c.4758C>G (p.Asp1586Glu) c.4653C>G (p.Asp1551Glu) | |
| 2 | g.26465758G= | CA1239816686 | OTOF | c.4713C= (p.Asp1571=) c.2412C= (p.Asp804=) c.2472C= (p.Asp824=) c.2643C= (p.Asp881=) n.462C= c.4698C= (p.Asp1566=) c.4758C= (p.Asp1586=) c.4653C= (p.Asp1551=) | |
| 2 | g.26465758G>T | CA346135485 | OTOF | c.4713C>A (p.Asp1571Glu) c.2412C>A (p.Asp804Glu) c.2472C>A (p.Asp824Glu) c.2643C>A (p.Asp881Glu) n.462C>A c.4698C>A (p.Asp1566Glu) c.4758C>A (p.Asp1586Glu) c.4653C>A (p.Asp1551Glu) | |
| 2 | g.26465759T>A | CA346135489 | OTOF | c.4712A>T (p.Asp1571Val) c.2411A>T (p.Asp804Val) c.2471A>T (p.Asp824Val) c.2642A>T (p.Asp881Val) n.461A>T c.4697A>T (p.Asp1566Val) c.4757A>T (p.Asp1586Val) c.4652A>T (p.Asp1551Val) | |
| 2 | g.26465759T>C | CA346135488 | OTOF | c.4712A>G (p.Asp1571Gly) c.2411A>G (p.Asp804Gly) c.2471A>G (p.Asp824Gly) c.2642A>G (p.Asp881Gly) n.461A>G c.4697A>G (p.Asp1566Gly) c.4757A>G (p.Asp1586Gly) c.4652A>G (p.Asp1551Gly) | |
| 2 | g.26465759T>G | CA346135487 | OTOF | c.4712A>C (p.Asp1571Ala) c.2411A>C (p.Asp804Ala) c.2471A>C (p.Asp824Ala) c.2642A>C (p.Asp881Ala) n.461A>C c.4697A>C (p.Asp1566Ala) c.4757A>C (p.Asp1586Ala) c.4652A>C (p.Asp1551Ala) | |
| 2 | g.26465760C>A | CA346135490 | OTOF | c.4711G>T (p.Asp1571Tyr) c.2410G>T (p.Asp804Tyr) c.2470G>T (p.Asp824Tyr) c.2641G>T (p.Asp881Tyr) n.460G>T c.4696G>T (p.Asp1566Tyr) c.4756G>T (p.Asp1586Tyr) c.4651G>T (p.Asp1551Tyr) | dbSNP |
| 2 | g.26465760C= | CA1239816687 | OTOF | c.4711G= (p.Asp1571=) c.2410G= (p.Asp804=) c.2470G= (p.Asp824=) c.2641G= (p.Asp881=) n.460G= c.4696G= (p.Asp1566=) c.4756G= (p.Asp1586=) c.4651G= (p.Asp1551=) | |
| 2 | g.26465760C>G | CA1563068 | OTOF | c.4711G>C (p.Asp1571His) c.2410G>C (p.Asp804His) c.2470G>C (p.Asp824His) c.2641G>C (p.Asp881His) n.460G>C c.4696G>C (p.Asp1566His) c.4756G>C (p.Asp1586His) c.4651G>C (p.Asp1551His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465760C>T | CA346135492 | OTOF | c.4711G>A (p.Asp1571Asn) c.2410G>A (p.Asp804Asn) c.2470G>A (p.Asp824Asn) c.2641G>A (p.Asp881Asn) n.460G>A c.4696G>A (p.Asp1566Asn) c.4756G>A (p.Asp1586Asn) c.4651G>A (p.Asp1551Asn) | |
| 2 | g.26465761A>C | CA346135494 | OTOF | c.4710T>G (p.Asp1570Glu) c.2409T>G (p.Asp803Glu) c.2469T>G (p.Asp823Glu) c.2640T>G (p.Asp880Glu) n.459T>G c.4695T>G (p.Asp1565Glu) c.4755T>G (p.Asp1585Glu) c.4650T>G (p.Asp1550Glu) | |
| 2 | g.26465761A>G | CA425359455 | OTOF | c.4710T>C (p.Asp1570=) c.2409T>C (p.Asp803=) c.2469T>C (p.Asp823=) c.2640T>C (p.Asp880=) n.459T>C c.4695T>C (p.Asp1565=) c.4755T>C (p.Asp1585=) c.4650T>C (p.Asp1550=) | |
| 2 | g.26465761A>T | CA346135496 | OTOF | c.4710T>A (p.Asp1570Glu) c.2409T>A (p.Asp803Glu) c.2469T>A (p.Asp823Glu) c.2640T>A (p.Asp880Glu) n.459T>A c.4695T>A (p.Asp1565Glu) c.4755T>A (p.Asp1585Glu) c.4650T>A (p.Asp1550Glu) | |
| 2 | g.26465762T>A | CA346135497 | OTOF | c.4709A>T (p.Asp1570Val) c.2408A>T (p.Asp803Val) c.2468A>T (p.Asp823Val) c.2639A>T (p.Asp880Val) n.458A>T c.4694A>T (p.Asp1565Val) c.4754A>T (p.Asp1585Val) c.4649A>T (p.Asp1550Val) | |
| 2 | g.26465762T>C | CA346135499 | OTOF | c.4709A>G (p.Asp1570Gly) c.2408A>G (p.Asp803Gly) c.2468A>G (p.Asp823Gly) c.2639A>G (p.Asp880Gly) n.458A>G c.4694A>G (p.Asp1565Gly) c.4754A>G (p.Asp1585Gly) c.4649A>G (p.Asp1550Gly) | |
| 2 | g.26465762T>G | CA346135501 | OTOF | c.4709A>C (p.Asp1570Ala) c.2408A>C (p.Asp803Ala) c.2468A>C (p.Asp823Ala) c.2639A>C (p.Asp880Ala) n.458A>C c.4694A>C (p.Asp1565Ala) c.4754A>C (p.Asp1585Ala) c.4649A>C (p.Asp1550Ala) | |
| 2 | g.26465763C>A | CA346135502 | OTOF | c.4708G>T (p.Asp1570Tyr) c.2407G>T (p.Asp803Tyr) c.2467G>T (p.Asp823Tyr) c.2638G>T (p.Asp880Tyr) n.457G>T c.4693G>T (p.Asp1565Tyr) c.4753G>T (p.Asp1585Tyr) c.4648G>T (p.Asp1550Tyr) | |
| 2 | g.26465763C>G | CA346135504 | OTOF | c.4708G>C (p.Asp1570His) c.2407G>C (p.Asp803His) c.2467G>C (p.Asp823His) c.2638G>C (p.Asp880His) n.457G>C c.4693G>C (p.Asp1565His) c.4753G>C (p.Asp1585His) c.4648G>C (p.Asp1550His) | |
| 2 | g.26465763C>T | CA346135505 | OTOF | c.4708G>A (p.Asp1570Asn) c.2407G>A (p.Asp803Asn) c.2467G>A (p.Asp823Asn) c.2638G>A (p.Asp880Asn) n.457G>A c.4693G>A (p.Asp1565Asn) c.4753G>A (p.Asp1585Asn) c.4648G>A (p.Asp1550Asn) | |
| 2 | g.26465764A>C | CA425359456 | OTOF | c.4707T>G (p.Thr1569=) c.2406T>G (p.Thr802=) c.2466T>G (p.Thr822=) c.2637T>G (p.Thr879=) n.456T>G c.4692T>G (p.Thr1564=) c.4752T>G (p.Thr1584=) c.4647T>G (p.Thr1549=) | |
| 2 | g.26465764A>G | CA425359458 | OTOF | c.4707T>C (p.Thr1569=) c.2406T>C (p.Thr802=) c.2466T>C (p.Thr822=) c.2637T>C (p.Thr879=) n.456T>C c.4692T>C (p.Thr1564=) c.4752T>C (p.Thr1584=) c.4647T>C (p.Thr1549=) | |
| 2 | g.26465764A>T | CA425359457 | OTOF | c.4707T>A (p.Thr1569=) c.2406T>A (p.Thr802=) c.2466T>A (p.Thr822=) c.2637T>A (p.Thr879=) n.456T>A c.4692T>A (p.Thr1564=) c.4752T>A (p.Thr1584=) c.4647T>A (p.Thr1549=) | |
| 2 | g.26465765G>A | CA346135509 | OTOF | c.4706C>T (p.Thr1569Ile) c.2405C>T (p.Thr802Ile) c.2465C>T (p.Thr822Ile) c.2636C>T (p.Thr879Ile) n.455C>T c.4691C>T (p.Thr1564Ile) c.4751C>T (p.Thr1584Ile) c.4646C>T (p.Thr1549Ile) | |
| 2 | g.26465765G>C | CA346135511 | OTOF | c.4706C>G (p.Thr1569Ser) c.2405C>G (p.Thr802Ser) c.2465C>G (p.Thr822Ser) c.2636C>G (p.Thr879Ser) n.455C>G c.4691C>G (p.Thr1564Ser) c.4751C>G (p.Thr1584Ser) c.4646C>G (p.Thr1549Ser) | |
| 2 | g.26465765G>T | CA346135507 | OTOF | c.4706C>A (p.Thr1569Asn) c.2405C>A (p.Thr802Asn) c.2465C>A (p.Thr822Asn) c.2636C>A (p.Thr879Asn) n.455C>A c.4691C>A (p.Thr1564Asn) c.4751C>A (p.Thr1584Asn) c.4646C>A (p.Thr1549Asn) | |
| 2 | g.26465766T>A | CA346135512 | OTOF | c.4705A>T (p.Thr1569Ser) c.2404A>T (p.Thr802Ser) c.2464A>T (p.Thr822Ser) c.2635A>T (p.Thr879Ser) n.454A>T c.4690A>T (p.Thr1564Ser) c.4750A>T (p.Thr1584Ser) c.4645A>T (p.Thr1549Ser) | |
| 2 | g.26465766T>C | CA346135513 | OTOF | c.4705A>G (p.Thr1569Ala) c.2404A>G (p.Thr802Ala) c.2464A>G (p.Thr822Ala) c.2635A>G (p.Thr879Ala) n.454A>G c.4690A>G (p.Thr1564Ala) c.4750A>G (p.Thr1584Ala) c.4645A>G (p.Thr1549Ala) | |
| 2 | g.26465766T>G | CA346135515 | OTOF | c.4705A>C (p.Thr1569Pro) c.2404A>C (p.Thr802Pro) c.2464A>C (p.Thr822Pro) c.2635A>C (p.Thr879Pro) n.454A>C c.4690A>C (p.Thr1564Pro) c.4750A>C (p.Thr1584Pro) c.4645A>C (p.Thr1549Pro) | |
| 2 | g.26465767G>A | CA425359459 | OTOF | c.4704C>T (p.Gly1568=) c.2403C>T (p.Gly801=) c.2463C>T (p.Gly821=) c.2634C>T (p.Gly878=) n.453C>T c.4689C>T (p.Gly1563=) c.4749C>T (p.Gly1583=) c.4644C>T (p.Gly1548=) |