| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178590905_178590907del | CA645528354 | TTN,TTN-AS1 | c.53119_53121del (p.Pro17707del) c.34204_34206del (p.Pro11402del) c.34003_34005del (p.Pro11335del) c.33628_33630del (p.Pro11210del) c.60823_60825del (p.Pro20275del) c.55900_55902del (p.Pro18634del) n.597-6691_597-6689del n.3189-234_3189-232del c.59920_59922del (p.Pro19974del) c.33814_33816del (p.Pro11272del) c.33673_33675del (p.Pro11225del) c.59716_59718del (p.Pro19906del) c.55114_55116del (p.Pro18372del) c.55111_55113del (p.Pro18371del) c.52153_52155del (p.Pro17385del) c.33769_33771del (p.Pro11257del) c.55264_55266del (p.Pro18422del) c.55261_55263del (p.Pro18421del) c.54694_54696del (p.Pro18232del) c.52036_52038del (p.Pro17346del) c.51955_51957del (p.Pro17319del) c.33718_33720del (p.Pro11240del) c.23572_23574del (p.Pro7858del) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590906A>C | CA430266199 | TTN,TTN-AS1 | c.53115T>G (p.Ser17705=) c.34200T>G (p.Ser11400=) c.33999T>G (p.Ser11333=) c.33624T>G (p.Ser11208=) c.60819T>G (p.Ser20273=) c.55896T>G (p.Ser18632=) n.597-6690A>C n.3189-233A>C c.59916T>G (p.Ser19972=) c.33810T>G (p.Ser11270=) c.33669T>G (p.Ser11223=) c.59712T>G (p.Ser19904=) c.55110T>G (p.Ser18370=) c.55107T>G (p.Ser18369=) c.52149T>G (p.Ser17383=) c.33765T>G (p.Ser11255=) c.55260T>G (p.Ser18420=) c.55257T>G (p.Ser18419=) c.54690T>G (p.Ser18230=) c.52032T>G (p.Ser17344=) c.51951T>G (p.Ser17317=) c.33714T>G (p.Ser11238=) c.23568T>G (p.Ser7856=) | |
| 2 | g.178590906A>G | CA430266198 | TTN,TTN-AS1 | c.53115T>C (p.Ser17705=) c.34200T>C (p.Ser11400=) c.33999T>C (p.Ser11333=) c.33624T>C (p.Ser11208=) c.60819T>C (p.Ser20273=) c.55896T>C (p.Ser18632=) n.597-6690A>G n.3189-233A>G c.59916T>C (p.Ser19972=) c.33810T>C (p.Ser11270=) c.33669T>C (p.Ser11223=) c.59712T>C (p.Ser19904=) c.55110T>C (p.Ser18370=) c.55107T>C (p.Ser18369=) c.52149T>C (p.Ser17383=) c.33765T>C (p.Ser11255=) c.55260T>C (p.Ser18420=) c.55257T>C (p.Ser18419=) c.54690T>C (p.Ser18230=) c.52032T>C (p.Ser17344=) c.51951T>C (p.Ser17317=) c.33714T>C (p.Ser11238=) c.23568T>C (p.Ser7856=) | |
| 2 | g.178590906A>T | CA430266196 | TTN,TTN-AS1 | c.53115T>A (p.Ser17705=) c.34200T>A (p.Ser11400=) c.33999T>A (p.Ser11333=) c.33624T>A (p.Ser11208=) c.60819T>A (p.Ser20273=) c.55896T>A (p.Ser18632=) n.597-6690A>T n.3189-233A>T c.59916T>A (p.Ser19972=) c.33810T>A (p.Ser11270=) c.33669T>A (p.Ser11223=) c.59712T>A (p.Ser19904=) c.55110T>A (p.Ser18370=) c.55107T>A (p.Ser18369=) c.52149T>A (p.Ser17383=) c.33765T>A (p.Ser11255=) c.55260T>A (p.Ser18420=) c.55257T>A (p.Ser18419=) c.54690T>A (p.Ser18230=) c.52032T>A (p.Ser17344=) c.51951T>A (p.Ser17317=) c.33714T>A (p.Ser11238=) c.23568T>A (p.Ser7856=) | |
| 2 | g.178590907G>A | CA1992442 | TTN,TTN-AS1 | c.53114C>T (p.Ser17705Phe) c.34199C>T (p.Ser11400Phe) c.33998C>T (p.Ser11333Phe) c.33623C>T (p.Ser11208Phe) c.60818C>T (p.Ser20273Phe) c.55895C>T (p.Ser18632Phe) n.597-6689G>A n.3189-232G>A c.59915C>T (p.Ser19972Phe) c.33809C>T (p.Ser11270Phe) c.33668C>T (p.Ser11223Phe) c.59711C>T (p.Ser19904Phe) c.55109C>T (p.Ser18370Phe) c.55106C>T (p.Ser18369Phe) c.52148C>T (p.Ser17383Phe) c.33764C>T (p.Ser11255Phe) c.55259C>T (p.Ser18420Phe) c.55256C>T (p.Ser18419Phe) c.54689C>T (p.Ser18230Phe) c.52031C>T (p.Ser17344Phe) c.51950C>T (p.Ser17317Phe) c.33713C>T (p.Ser11238Phe) c.23567C>T (p.Ser7856Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590907G>C | CA349479254 | TTN,TTN-AS1 | c.53114C>G (p.Ser17705Cys) c.34199C>G (p.Ser11400Cys) c.33998C>G (p.Ser11333Cys) c.33623C>G (p.Ser11208Cys) c.60818C>G (p.Ser20273Cys) c.55895C>G (p.Ser18632Cys) n.597-6689G>C n.3189-232G>C c.59915C>G (p.Ser19972Cys) c.33809C>G (p.Ser11270Cys) c.33668C>G (p.Ser11223Cys) c.59711C>G (p.Ser19904Cys) c.55109C>G (p.Ser18370Cys) c.55106C>G (p.Ser18369Cys) c.52148C>G (p.Ser17383Cys) c.33764C>G (p.Ser11255Cys) c.55259C>G (p.Ser18420Cys) c.55256C>G (p.Ser18419Cys) c.54689C>G (p.Ser18230Cys) c.52031C>G (p.Ser17344Cys) c.51950C>G (p.Ser17317Cys) c.33713C>G (p.Ser11238Cys) c.23567C>G (p.Ser7856Cys) | |
| 2 | g.178590907G= | CA1310539652 | TTN,TTN-AS1 | c.53114C= (p.Ser17705=) c.34199C= (p.Ser11400=) c.33998C= (p.Ser11333=) c.33623C= (p.Ser11208=) c.60818C= (p.Ser20273=) c.55895C= (p.Ser18632=) n.597-6689G= n.3189-232G= c.59915C= (p.Ser19972=) c.33809C= (p.Ser11270=) c.33668C= (p.Ser11223=) c.59711C= (p.Ser19904=) c.55109C= (p.Ser18370=) c.55106C= (p.Ser18369=) c.52148C= (p.Ser17383=) c.33764C= (p.Ser11255=) c.55259C= (p.Ser18420=) c.55256C= (p.Ser18419=) c.54689C= (p.Ser18230=) c.52031C= (p.Ser17344=) c.51950C= (p.Ser17317=) c.33713C= (p.Ser11238=) c.23567C= (p.Ser7856=) | |
| 2 | g.178590907G>T | CA60968656 | TTN,TTN-AS1 | c.53114C>A (p.Ser17705Tyr) c.34199C>A (p.Ser11400Tyr) c.33998C>A (p.Ser11333Tyr) c.33623C>A (p.Ser11208Tyr) c.60818C>A (p.Ser20273Tyr) c.55895C>A (p.Ser18632Tyr) n.597-6689G>T n.3189-232G>T c.59915C>A (p.Ser19972Tyr) c.33809C>A (p.Ser11270Tyr) c.33668C>A (p.Ser11223Tyr) c.59711C>A (p.Ser19904Tyr) c.55109C>A (p.Ser18370Tyr) c.55106C>A (p.Ser18369Tyr) c.52148C>A (p.Ser17383Tyr) c.33764C>A (p.Ser11255Tyr) c.55259C>A (p.Ser18420Tyr) c.55256C>A (p.Ser18419Tyr) c.54689C>A (p.Ser18230Tyr) c.52031C>A (p.Ser17344Tyr) c.51950C>A (p.Ser17317Tyr) c.33713C>A (p.Ser11238Tyr) c.23567C>A (p.Ser7856Tyr) | dbSNP |
| 2 | g.178590908_178590909insGGA | CA645528355 | TTN,TTN-AS1 | c.53114_53115insCTC (p.Ser17705_Pro17706insSer) c.34199_34200insCTC (p.Ser11400_Pro11401insSer) c.33998_33999insCTC (p.Ser11333_Pro11334insSer) c.33623_33624insCTC (p.Ser11208_Pro11209insSer) c.60818_60819insCTC (p.Ser20273_Pro20274insSer) c.55895_55896insCTC (p.Ser18632_Pro18633insSer) n.597-6688_597-6687insGGA n.3189-231_3189-230insGGA c.59915_59916insCTC (p.Ser19972_Pro19973insSer) c.33809_33810insCTC (p.Ser11270_Pro11271insSer) c.33668_33669insCTC (p.Ser11223_Pro11224insSer) c.59711_59712insCTC (p.Ser19904_Pro19905insSer) c.55109_55110insCTC (p.Ser18370_Pro18371insSer) c.55106_55107insCTC (p.Ser18369_Pro18370insSer) c.52148_52149insCTC (p.Ser17383_Pro17384insSer) c.33764_33765insCTC (p.Ser11255_Pro11256insSer) c.55259_55260insCTC (p.Ser18420_Pro18421insSer) c.55256_55257insCTC (p.Ser18419_Pro18420insSer) c.54689_54690insCTC (p.Ser18230_Pro18231insSer) c.52031_52032insCTC (p.Ser17344_Pro17345insSer) c.51950_51951insCTC (p.Ser17317_Pro17318insSer) c.33713_33714insCTC (p.Ser11238_Pro11239insSer) c.23567_23568insCTC (p.Ser7856_Pro7857insSer) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590908A>C | CA349479261 | TTN,TTN-AS1 | c.53113T>G (p.Ser17705Ala) c.34198T>G (p.Ser11400Ala) c.33997T>G (p.Ser11333Ala) c.33622T>G (p.Ser11208Ala) c.60817T>G (p.Ser20273Ala) c.55894T>G (p.Ser18632Ala) n.597-6688A>C n.3189-231A>C c.59914T>G (p.Ser19972Ala) c.33808T>G (p.Ser11270Ala) c.33667T>G (p.Ser11223Ala) c.59710T>G (p.Ser19904Ala) c.55108T>G (p.Ser18370Ala) c.55105T>G (p.Ser18369Ala) c.52147T>G (p.Ser17383Ala) c.33763T>G (p.Ser11255Ala) c.55258T>G (p.Ser18420Ala) c.55255T>G (p.Ser18419Ala) c.54688T>G (p.Ser18230Ala) c.52030T>G (p.Ser17344Ala) c.51949T>G (p.Ser17317Ala) c.33712T>G (p.Ser11238Ala) c.23566T>G (p.Ser7856Ala) | |
| 2 | g.178590908A>G | CA349479268 | TTN,TTN-AS1 | c.53113T>C (p.Ser17705Pro) c.34198T>C (p.Ser11400Pro) c.33997T>C (p.Ser11333Pro) c.33622T>C (p.Ser11208Pro) c.60817T>C (p.Ser20273Pro) c.55894T>C (p.Ser18632Pro) n.597-6688A>G n.3189-231A>G c.59914T>C (p.Ser19972Pro) c.33808T>C (p.Ser11270Pro) c.33667T>C (p.Ser11223Pro) c.59710T>C (p.Ser19904Pro) c.55108T>C (p.Ser18370Pro) c.55105T>C (p.Ser18369Pro) c.52147T>C (p.Ser17383Pro) c.33763T>C (p.Ser11255Pro) c.55258T>C (p.Ser18420Pro) c.55255T>C (p.Ser18419Pro) c.54688T>C (p.Ser18230Pro) c.52030T>C (p.Ser17344Pro) c.51949T>C (p.Ser17317Pro) c.33712T>C (p.Ser11238Pro) c.23566T>C (p.Ser7856Pro) | |
| 2 | g.178590908A>T | CA349479264 | TTN,TTN-AS1 | c.53113T>A (p.Ser17705Thr) c.34198T>A (p.Ser11400Thr) c.33997T>A (p.Ser11333Thr) c.33622T>A (p.Ser11208Thr) c.60817T>A (p.Ser20273Thr) c.55894T>A (p.Ser18632Thr) n.597-6688A>T n.3189-231A>T c.59914T>A (p.Ser19972Thr) c.33808T>A (p.Ser11270Thr) c.33667T>A (p.Ser11223Thr) c.59710T>A (p.Ser19904Thr) c.55108T>A (p.Ser18370Thr) c.55105T>A (p.Ser18369Thr) c.52147T>A (p.Ser17383Thr) c.33763T>A (p.Ser11255Thr) c.55258T>A (p.Ser18420Thr) c.55255T>A (p.Ser18419Thr) c.54688T>A (p.Ser18230Thr) c.52030T>A (p.Ser17344Thr) c.51949T>A (p.Ser17317Thr) c.33712T>A (p.Ser11238Thr) c.23566T>A (p.Ser7856Thr) | |
| 2 | g.178590909C>A | CA430266204 | TTN,TTN-AS1 | c.53112G>T (p.Pro17704=) c.34197G>T (p.Pro11399=) c.33996G>T (p.Pro11332=) c.33621G>T (p.Pro11207=) c.60816G>T (p.Pro20272=) c.55893G>T (p.Pro18631=) n.597-6687C>A n.3189-230C>A c.59913G>T (p.Pro19971=) c.33807G>T (p.Pro11269=) c.33666G>T (p.Pro11222=) c.59709G>T (p.Pro19903=) c.55107G>T (p.Pro18369=) c.55104G>T (p.Pro18368=) c.52146G>T (p.Pro17382=) c.33762G>T (p.Pro11254=) c.55257G>T (p.Pro18419=) c.55254G>T (p.Pro18418=) c.54687G>T (p.Pro18229=) c.52029G>T (p.Pro17343=) c.51948G>T (p.Pro17316=) c.33711G>T (p.Pro11237=) c.23565G>T (p.Pro7855=) | |
| 2 | g.178590909C= | CA1310539655 | TTN,TTN-AS1 | c.53112G= (p.Pro17704=) c.34197G= (p.Pro11399=) c.33996G= (p.Pro11332=) c.33621G= (p.Pro11207=) c.60816G= (p.Pro20272=) c.55893G= (p.Pro18631=) n.597-6687C= n.3189-230C= c.59913G= (p.Pro19971=) c.33807G= (p.Pro11269=) c.33666G= (p.Pro11222=) c.59709G= (p.Pro19903=) c.55107G= (p.Pro18369=) c.55104G= (p.Pro18368=) c.52146G= (p.Pro17382=) c.33762G= (p.Pro11254=) c.55257G= (p.Pro18419=) c.55254G= (p.Pro18418=) c.54687G= (p.Pro18229=) c.52029G= (p.Pro17343=) c.51948G= (p.Pro17316=) c.33711G= (p.Pro11237=) c.23565G= (p.Pro7855=) | |
| 2 | g.178590909C>G | CA430266207 | TTN,TTN-AS1 | c.53112G>C (p.Pro17704=) c.34197G>C (p.Pro11399=) c.33996G>C (p.Pro11332=) c.33621G>C (p.Pro11207=) c.60816G>C (p.Pro20272=) c.55893G>C (p.Pro18631=) n.597-6687C>G n.3189-230C>G c.59913G>C (p.Pro19971=) c.33807G>C (p.Pro11269=) c.33666G>C (p.Pro11222=) c.59709G>C (p.Pro19903=) c.55107G>C (p.Pro18369=) c.55104G>C (p.Pro18368=) c.52146G>C (p.Pro17382=) c.33762G>C (p.Pro11254=) c.55257G>C (p.Pro18419=) c.55254G>C (p.Pro18418=) c.54687G>C (p.Pro18229=) c.52029G>C (p.Pro17343=) c.51948G>C (p.Pro17316=) c.33711G>C (p.Pro11237=) c.23565G>C (p.Pro7855=) | |
| 2 | g.178590909C>T | CA183278 | TTN,TTN-AS1 | c.53112G>A (p.Pro17704=) c.34197G>A (p.Pro11399=) c.33996G>A (p.Pro11332=) c.33621G>A (p.Pro11207=) c.60816G>A (p.Pro20272=) c.55893G>A (p.Pro18631=) n.597-6687C>T n.3189-230C>T c.59913G>A (p.Pro19971=) c.33807G>A (p.Pro11269=) c.33666G>A (p.Pro11222=) c.59709G>A (p.Pro19903=) c.55107G>A (p.Pro18369=) c.55104G>A (p.Pro18368=) c.52146G>A (p.Pro17382=) c.33762G>A (p.Pro11254=) c.55257G>A (p.Pro18419=) c.55254G>A (p.Pro18418=) c.54687G>A (p.Pro18229=) c.52029G>A (p.Pro17343=) c.51948G>A (p.Pro17316=) c.33711G>A (p.Pro11237=) c.23565G>A (p.Pro7855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590910G>A | CA1992443 | TTN,TTN-AS1 | c.53111C>T (p.Pro17704Leu) c.34196C>T (p.Pro11399Leu) c.33995C>T (p.Pro11332Leu) c.33620C>T (p.Pro11207Leu) c.60815C>T (p.Pro20272Leu) c.55892C>T (p.Pro18631Leu) n.597-6686G>A n.3189-229G>A c.59912C>T (p.Pro19971Leu) c.33806C>T (p.Pro11269Leu) c.33665C>T (p.Pro11222Leu) c.59708C>T (p.Pro19903Leu) c.55106C>T (p.Pro18369Leu) c.55103C>T (p.Pro18368Leu) c.52145C>T (p.Pro17382Leu) c.33761C>T (p.Pro11254Leu) c.55256C>T (p.Pro18419Leu) c.55253C>T (p.Pro18418Leu) c.54686C>T (p.Pro18229Leu) c.52028C>T (p.Pro17343Leu) c.51947C>T (p.Pro17316Leu) c.33710C>T (p.Pro11237Leu) c.23564C>T (p.Pro7855Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178590910G>C | CA349479279 | TTN,TTN-AS1 | c.53111C>G (p.Pro17704Arg) c.34196C>G (p.Pro11399Arg) c.33995C>G (p.Pro11332Arg) c.33620C>G (p.Pro11207Arg) c.60815C>G (p.Pro20272Arg) c.55892C>G (p.Pro18631Arg) n.597-6686G>C n.3189-229G>C c.59912C>G (p.Pro19971Arg) c.33806C>G (p.Pro11269Arg) c.33665C>G (p.Pro11222Arg) c.59708C>G (p.Pro19903Arg) c.55106C>G (p.Pro18369Arg) c.55103C>G (p.Pro18368Arg) c.52145C>G (p.Pro17382Arg) c.33761C>G (p.Pro11254Arg) c.55256C>G (p.Pro18419Arg) c.55253C>G (p.Pro18418Arg) c.54686C>G (p.Pro18229Arg) c.52028C>G (p.Pro17343Arg) c.51947C>G (p.Pro17316Arg) c.33710C>G (p.Pro11237Arg) c.23564C>G (p.Pro7855Arg) | |
| 2 | g.178590910G= | CA1310539657 | TTN,TTN-AS1 | c.53111C= (p.Pro17704=) c.34196C= (p.Pro11399=) c.33995C= (p.Pro11332=) c.33620C= (p.Pro11207=) c.60815C= (p.Pro20272=) c.55892C= (p.Pro18631=) n.597-6686G= n.3189-229G= c.59912C= (p.Pro19971=) c.33806C= (p.Pro11269=) c.33665C= (p.Pro11222=) c.59708C= (p.Pro19903=) c.55106C= (p.Pro18369=) c.55103C= (p.Pro18368=) c.52145C= (p.Pro17382=) c.33761C= (p.Pro11254=) c.55256C= (p.Pro18419=) c.55253C= (p.Pro18418=) c.54686C= (p.Pro18229=) c.52028C= (p.Pro17343=) c.51947C= (p.Pro17316=) c.33710C= (p.Pro11237=) c.23564C= (p.Pro7855=) | |
| 2 | g.178590910G>T | CA349479280 | TTN,TTN-AS1 | c.53111C>A (p.Pro17704Gln) c.34196C>A (p.Pro11399Gln) c.33995C>A (p.Pro11332Gln) c.33620C>A (p.Pro11207Gln) c.60815C>A (p.Pro20272Gln) c.55892C>A (p.Pro18631Gln) n.597-6686G>T n.3189-229G>T c.59912C>A (p.Pro19971Gln) c.33806C>A (p.Pro11269Gln) c.33665C>A (p.Pro11222Gln) c.59708C>A (p.Pro19903Gln) c.55106C>A (p.Pro18369Gln) c.55103C>A (p.Pro18368Gln) c.52145C>A (p.Pro17382Gln) c.33761C>A (p.Pro11254Gln) c.55256C>A (p.Pro18419Gln) c.55253C>A (p.Pro18418Gln) c.54686C>A (p.Pro18229Gln) c.52028C>A (p.Pro17343Gln) c.51947C>A (p.Pro17316Gln) c.33710C>A (p.Pro11237Gln) c.23564C>A (p.Pro7855Gln) | |
| 2 | g.178590911G>A | CA60968658 | TTN,TTN-AS1 | c.53110C>T (p.Pro17704Ser) c.34195C>T (p.Pro11399Ser) c.33994C>T (p.Pro11332Ser) c.33619C>T (p.Pro11207Ser) c.60814C>T (p.Pro20272Ser) c.55891C>T (p.Pro18631Ser) n.597-6685G>A n.3189-228G>A c.59911C>T (p.Pro19971Ser) c.33805C>T (p.Pro11269Ser) c.33664C>T (p.Pro11222Ser) c.59707C>T (p.Pro19903Ser) c.55105C>T (p.Pro18369Ser) c.55102C>T (p.Pro18368Ser) c.52144C>T (p.Pro17382Ser) c.33760C>T (p.Pro11254Ser) c.55255C>T (p.Pro18419Ser) c.55252C>T (p.Pro18418Ser) c.54685C>T (p.Pro18229Ser) c.52027C>T (p.Pro17343Ser) c.51946C>T (p.Pro17316Ser) c.33709C>T (p.Pro11237Ser) c.23563C>T (p.Pro7855Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178590911G>C | CA349479284 | TTN,TTN-AS1 | c.53110C>G (p.Pro17704Ala) c.34195C>G (p.Pro11399Ala) c.33994C>G (p.Pro11332Ala) c.33619C>G (p.Pro11207Ala) c.60814C>G (p.Pro20272Ala) c.55891C>G (p.Pro18631Ala) n.597-6685G>C n.3189-228G>C c.59911C>G (p.Pro19971Ala) c.33805C>G (p.Pro11269Ala) c.33664C>G (p.Pro11222Ala) c.59707C>G (p.Pro19903Ala) c.55105C>G (p.Pro18369Ala) c.55102C>G (p.Pro18368Ala) c.52144C>G (p.Pro17382Ala) c.33760C>G (p.Pro11254Ala) c.55255C>G (p.Pro18419Ala) c.55252C>G (p.Pro18418Ala) c.54685C>G (p.Pro18229Ala) c.52027C>G (p.Pro17343Ala) c.51946C>G (p.Pro17316Ala) c.33709C>G (p.Pro11237Ala) c.23563C>G (p.Pro7855Ala) | |
| 2 | g.178590911G= | CA1310539658 | TTN,TTN-AS1 | c.53110C= (p.Pro17704=) c.34195C= (p.Pro11399=) c.33994C= (p.Pro11332=) c.33619C= (p.Pro11207=) c.60814C= (p.Pro20272=) c.55891C= (p.Pro18631=) n.597-6685G= n.3189-228G= c.59911C= (p.Pro19971=) c.33805C= (p.Pro11269=) c.33664C= (p.Pro11222=) c.59707C= (p.Pro19903=) c.55105C= (p.Pro18369=) c.55102C= (p.Pro18368=) c.52144C= (p.Pro17382=) c.33760C= (p.Pro11254=) c.55255C= (p.Pro18419=) c.55252C= (p.Pro18418=) c.54685C= (p.Pro18229=) c.52027C= (p.Pro17343=) c.51946C= (p.Pro17316=) c.33709C= (p.Pro11237=) c.23563C= (p.Pro7855=) | |
| 2 | g.178590911G>T | CA349479286 | TTN,TTN-AS1 | c.53110C>A (p.Pro17704Thr) c.34195C>A (p.Pro11399Thr) c.33994C>A (p.Pro11332Thr) c.33619C>A (p.Pro11207Thr) c.60814C>A (p.Pro20272Thr) c.55891C>A (p.Pro18631Thr) n.597-6685G>T n.3189-228G>T c.59911C>A (p.Pro19971Thr) c.33805C>A (p.Pro11269Thr) c.33664C>A (p.Pro11222Thr) c.59707C>A (p.Pro19903Thr) c.55105C>A (p.Pro18369Thr) c.55102C>A (p.Pro18368Thr) c.52144C>A (p.Pro17382Thr) c.33760C>A (p.Pro11254Thr) c.55255C>A (p.Pro18419Thr) c.55252C>A (p.Pro18418Thr) c.54685C>A (p.Pro18229Thr) c.52027C>A (p.Pro17343Thr) c.51946C>A (p.Pro17316Thr) c.33709C>A (p.Pro11237Thr) c.23563C>A (p.Pro7855Thr) | |
| 2 | g.178590912A>C | CA430266210 | TTN,TTN-AS1 | c.53109T>G (p.Pro17703=) c.34194T>G (p.Pro11398=) c.33993T>G (p.Pro11331=) c.33618T>G (p.Pro11206=) c.60813T>G (p.Pro20271=) c.55890T>G (p.Pro18630=) n.597-6684A>C n.3189-227A>C c.59910T>G (p.Pro19970=) c.33804T>G (p.Pro11268=) c.33663T>G (p.Pro11221=) c.59706T>G (p.Pro19902=) c.55104T>G (p.Pro18368=) c.55101T>G (p.Pro18367=) c.52143T>G (p.Pro17381=) c.33759T>G (p.Pro11253=) c.55254T>G (p.Pro18418=) c.55251T>G (p.Pro18417=) c.54684T>G (p.Pro18228=) c.52026T>G (p.Pro17342=) c.51945T>G (p.Pro17315=) c.33708T>G (p.Pro11236=) c.23562T>G (p.Pro7854=) | |
| 2 | g.178590912A>G | CA430266212 | TTN,TTN-AS1 | c.53109T>C (p.Pro17703=) c.34194T>C (p.Pro11398=) c.33993T>C (p.Pro11331=) c.33618T>C (p.Pro11206=) c.60813T>C (p.Pro20271=) c.55890T>C (p.Pro18630=) n.597-6684A>G n.3189-227A>G c.59910T>C (p.Pro19970=) c.33804T>C (p.Pro11268=) c.33663T>C (p.Pro11221=) c.59706T>C (p.Pro19902=) c.55104T>C (p.Pro18368=) c.55101T>C (p.Pro18367=) c.52143T>C (p.Pro17381=) c.33759T>C (p.Pro11253=) c.55254T>C (p.Pro18418=) c.55251T>C (p.Pro18417=) c.54684T>C (p.Pro18228=) c.52026T>C (p.Pro17342=) c.51945T>C (p.Pro17315=) c.33708T>C (p.Pro11236=) c.23562T>C (p.Pro7854=) | |
| 2 | g.178590912A>T | CA430266215 | TTN,TTN-AS1 | c.53109T>A (p.Pro17703=) c.34194T>A (p.Pro11398=) c.33993T>A (p.Pro11331=) c.33618T>A (p.Pro11206=) c.60813T>A (p.Pro20271=) c.55890T>A (p.Pro18630=) n.597-6684A>T n.3189-227A>T c.59910T>A (p.Pro19970=) c.33804T>A (p.Pro11268=) c.33663T>A (p.Pro11221=) c.59706T>A (p.Pro19902=) c.55104T>A (p.Pro18368=) c.55101T>A (p.Pro18367=) c.52143T>A (p.Pro17381=) c.33759T>A (p.Pro11253=) c.55254T>A (p.Pro18418=) c.55251T>A (p.Pro18417=) c.54684T>A (p.Pro18228=) c.52026T>A (p.Pro17342=) c.51945T>A (p.Pro17315=) c.33708T>A (p.Pro11236=) c.23562T>A (p.Pro7854=) | gnomAD v4 |
| 2 | g.178590913G>A | CA349479295 | TTN,TTN-AS1 | c.53108C>T (p.Pro17703Leu) c.34193C>T (p.Pro11398Leu) c.33992C>T (p.Pro11331Leu) c.33617C>T (p.Pro11206Leu) c.60812C>T (p.Pro20271Leu) c.55889C>T (p.Pro18630Leu) n.597-6683G>A n.3189-226G>A c.59909C>T (p.Pro19970Leu) c.33803C>T (p.Pro11268Leu) c.33662C>T (p.Pro11221Leu) c.59705C>T (p.Pro19902Leu) c.55103C>T (p.Pro18368Leu) c.55100C>T (p.Pro18367Leu) c.52142C>T (p.Pro17381Leu) c.33758C>T (p.Pro11253Leu) c.55253C>T (p.Pro18418Leu) c.55250C>T (p.Pro18417Leu) c.54683C>T (p.Pro18228Leu) c.52025C>T (p.Pro17342Leu) c.51944C>T (p.Pro17315Leu) c.33707C>T (p.Pro11236Leu) c.23561C>T (p.Pro7854Leu) | |
| 2 | g.178590913G>C | CA1992444 | TTN,TTN-AS1 | c.53108C>G (p.Pro17703Arg) c.34193C>G (p.Pro11398Arg) c.33992C>G (p.Pro11331Arg) c.33617C>G (p.Pro11206Arg) c.60812C>G (p.Pro20271Arg) c.55889C>G (p.Pro18630Arg) n.597-6683G>C n.3189-226G>C c.59909C>G (p.Pro19970Arg) c.33803C>G (p.Pro11268Arg) c.33662C>G (p.Pro11221Arg) c.59705C>G (p.Pro19902Arg) c.55103C>G (p.Pro18368Arg) c.55100C>G (p.Pro18367Arg) c.52142C>G (p.Pro17381Arg) c.33758C>G (p.Pro11253Arg) c.55253C>G (p.Pro18418Arg) c.55250C>G (p.Pro18417Arg) c.54683C>G (p.Pro18228Arg) c.52025C>G (p.Pro17342Arg) c.51944C>G (p.Pro17315Arg) c.33707C>G (p.Pro11236Arg) c.23561C>G (p.Pro7854Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.178590913G= | CA1310539659 | TTN,TTN-AS1 | c.53108C= (p.Pro17703=) c.34193C= (p.Pro11398=) c.33992C= (p.Pro11331=) c.33617C= (p.Pro11206=) c.60812C= (p.Pro20271=) c.55889C= (p.Pro18630=) n.597-6683G= n.3189-226G= c.59909C= (p.Pro19970=) c.33803C= (p.Pro11268=) c.33662C= (p.Pro11221=) c.59705C= (p.Pro19902=) c.55103C= (p.Pro18368=) c.55100C= (p.Pro18367=) c.52142C= (p.Pro17381=) c.33758C= (p.Pro11253=) c.55253C= (p.Pro18418=) c.55250C= (p.Pro18417=) c.54683C= (p.Pro18228=) c.52025C= (p.Pro17342=) c.51944C= (p.Pro17315=) c.33707C= (p.Pro11236=) c.23561C= (p.Pro7854=) | |
| 2 | g.178590913G>T | CA349479310 | TTN,TTN-AS1 | c.53108C>A (p.Pro17703His) c.34193C>A (p.Pro11398His) c.33992C>A (p.Pro11331His) c.33617C>A (p.Pro11206His) c.60812C>A (p.Pro20271His) c.55889C>A (p.Pro18630His) n.597-6683G>T n.3189-226G>T c.59909C>A (p.Pro19970His) c.33803C>A (p.Pro11268His) c.33662C>A (p.Pro11221His) c.59705C>A (p.Pro19902His) c.55103C>A (p.Pro18368His) c.55100C>A (p.Pro18367His) c.52142C>A (p.Pro17381His) c.33758C>A (p.Pro11253His) c.55253C>A (p.Pro18418His) c.55250C>A (p.Pro18417His) c.54683C>A (p.Pro18228His) c.52025C>A (p.Pro17342His) c.51944C>A (p.Pro17315His) c.33707C>A (p.Pro11236His) c.23561C>A (p.Pro7854His) | |
| 2 | g.178590914G>A | CA349479317 | TTN,TTN-AS1 | c.53107C>T (p.Pro17703Ser) c.34192C>T (p.Pro11398Ser) c.33991C>T (p.Pro11331Ser) c.33616C>T (p.Pro11206Ser) c.60811C>T (p.Pro20271Ser) c.55888C>T (p.Pro18630Ser) n.597-6682G>A n.3189-225G>A c.59908C>T (p.Pro19970Ser) c.33802C>T (p.Pro11268Ser) c.33661C>T (p.Pro11221Ser) c.59704C>T (p.Pro19902Ser) c.55102C>T (p.Pro18368Ser) c.55099C>T (p.Pro18367Ser) c.52141C>T (p.Pro17381Ser) c.33757C>T (p.Pro11253Ser) c.55252C>T (p.Pro18418Ser) c.55249C>T (p.Pro18417Ser) c.54682C>T (p.Pro18228Ser) c.52024C>T (p.Pro17342Ser) c.51943C>T (p.Pro17315Ser) c.33706C>T (p.Pro11236Ser) c.23560C>T (p.Pro7854Ser) | |
| 2 | g.178590914G>C | CA349479315 | TTN,TTN-AS1 | c.53107C>G (p.Pro17703Ala) c.34192C>G (p.Pro11398Ala) c.33991C>G (p.Pro11331Ala) c.33616C>G (p.Pro11206Ala) c.60811C>G (p.Pro20271Ala) c.55888C>G (p.Pro18630Ala) n.597-6682G>C n.3189-225G>C c.59908C>G (p.Pro19970Ala) c.33802C>G (p.Pro11268Ala) c.33661C>G (p.Pro11221Ala) c.59704C>G (p.Pro19902Ala) c.55102C>G (p.Pro18368Ala) c.55099C>G (p.Pro18367Ala) c.52141C>G (p.Pro17381Ala) c.33757C>G (p.Pro11253Ala) c.55252C>G (p.Pro18418Ala) c.55249C>G (p.Pro18417Ala) c.54682C>G (p.Pro18228Ala) c.52024C>G (p.Pro17342Ala) c.51943C>G (p.Pro17315Ala) c.33706C>G (p.Pro11236Ala) c.23560C>G (p.Pro7854Ala) | dbSNP |
| 2 | g.178590914G= | CA1310539661 | TTN,TTN-AS1 | c.53107C= (p.Pro17703=) c.34192C= (p.Pro11398=) c.33991C= (p.Pro11331=) c.33616C= (p.Pro11206=) c.60811C= (p.Pro20271=) c.55888C= (p.Pro18630=) n.597-6682G= n.3189-225G= c.59908C= (p.Pro19970=) c.33802C= (p.Pro11268=) c.33661C= (p.Pro11221=) c.59704C= (p.Pro19902=) c.55102C= (p.Pro18368=) c.55099C= (p.Pro18367=) c.52141C= (p.Pro17381=) c.33757C= (p.Pro11253=) c.55252C= (p.Pro18418=) c.55249C= (p.Pro18417=) c.54682C= (p.Pro18228=) c.52024C= (p.Pro17342=) c.51943C= (p.Pro17315=) c.33706C= (p.Pro11236=) c.23560C= (p.Pro7854=) | |
| 2 | g.178590914G>T | CA10613278 | TTN,TTN-AS1 | c.53107C>A (p.Pro17703Thr) c.34192C>A (p.Pro11398Thr) c.33991C>A (p.Pro11331Thr) c.33616C>A (p.Pro11206Thr) c.60811C>A (p.Pro20271Thr) c.55888C>A (p.Pro18630Thr) n.597-6682G>T n.3189-225G>T c.59908C>A (p.Pro19970Thr) c.33802C>A (p.Pro11268Thr) c.33661C>A (p.Pro11221Thr) c.59704C>A (p.Pro19902Thr) c.55102C>A (p.Pro18368Thr) c.55099C>A (p.Pro18367Thr) c.52141C>A (p.Pro17381Thr) c.33757C>A (p.Pro11253Thr) c.55252C>A (p.Pro18418Thr) c.55249C>A (p.Pro18417Thr) c.54682C>A (p.Pro18228Thr) c.52024C>A (p.Pro17342Thr) c.51943C>A (p.Pro17315Thr) c.33706C>A (p.Pro11236Thr) c.23560C>A (p.Pro7854Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178590915A>C | CA349479326 | TTN,TTN-AS1 | c.53106T>G (p.Ser17702Arg) c.34191T>G (p.Ser11397Arg) c.33990T>G (p.Ser11330Arg) c.33615T>G (p.Ser11205Arg) c.60810T>G (p.Ser20270Arg) c.55887T>G (p.Ser18629Arg) n.597-6681A>C n.3189-224A>C c.59907T>G (p.Ser19969Arg) c.33801T>G (p.Ser11267Arg) c.33660T>G (p.Ser11220Arg) c.59703T>G (p.Ser19901Arg) c.55101T>G (p.Ser18367Arg) c.55098T>G (p.Ser18366Arg) c.52140T>G (p.Ser17380Arg) c.33756T>G (p.Ser11252Arg) c.55251T>G (p.Ser18417Arg) c.55248T>G (p.Ser18416Arg) c.54681T>G (p.Ser18227Arg) c.52023T>G (p.Ser17341Arg) c.51942T>G (p.Ser17314Arg) c.33705T>G (p.Ser11235Arg) c.23559T>G (p.Ser7853Arg) | gnomAD v4 |
| 2 | g.178590915A>G | CA430266217 | TTN,TTN-AS1 | c.53106T>C (p.Ser17702=) c.34191T>C (p.Ser11397=) c.33990T>C (p.Ser11330=) c.33615T>C (p.Ser11205=) c.60810T>C (p.Ser20270=) c.55887T>C (p.Ser18629=) n.597-6681A>G n.3189-224A>G c.59907T>C (p.Ser19969=) c.33801T>C (p.Ser11267=) c.33660T>C (p.Ser11220=) c.59703T>C (p.Ser19901=) c.55101T>C (p.Ser18367=) c.55098T>C (p.Ser18366=) c.52140T>C (p.Ser17380=) c.33756T>C (p.Ser11252=) c.55251T>C (p.Ser18417=) c.55248T>C (p.Ser18416=) c.54681T>C (p.Ser18227=) c.52023T>C (p.Ser17341=) c.51942T>C (p.Ser17314=) c.33705T>C (p.Ser11235=) c.23559T>C (p.Ser7853=) | |
| 2 | g.178590915A>T | CA349479319 | TTN,TTN-AS1 | c.53106T>A (p.Ser17702Arg) c.34191T>A (p.Ser11397Arg) c.33990T>A (p.Ser11330Arg) c.33615T>A (p.Ser11205Arg) c.60810T>A (p.Ser20270Arg) c.55887T>A (p.Ser18629Arg) n.597-6681A>T n.3189-224A>T c.59907T>A (p.Ser19969Arg) c.33801T>A (p.Ser11267Arg) c.33660T>A (p.Ser11220Arg) c.59703T>A (p.Ser19901Arg) c.55101T>A (p.Ser18367Arg) c.55098T>A (p.Ser18366Arg) c.52140T>A (p.Ser17380Arg) c.33756T>A (p.Ser11252Arg) c.55251T>A (p.Ser18417Arg) c.55248T>A (p.Ser18416Arg) c.54681T>A (p.Ser18227Arg) c.52023T>A (p.Ser17341Arg) c.51942T>A (p.Ser17314Arg) c.33705T>A (p.Ser11235Arg) c.23559T>A (p.Ser7853Arg) | |
| 2 | g.178590916C>A | CA349479334 | TTN,TTN-AS1 | c.53105G>T (p.Ser17702Ile) c.34190G>T (p.Ser11397Ile) c.33989G>T (p.Ser11330Ile) c.33614G>T (p.Ser11205Ile) c.60809G>T (p.Ser20270Ile) c.55886G>T (p.Ser18629Ile) n.597-6680C>A n.3189-223C>A c.59906G>T (p.Ser19969Ile) c.33800G>T (p.Ser11267Ile) c.33659G>T (p.Ser11220Ile) c.59702G>T (p.Ser19901Ile) c.55100G>T (p.Ser18367Ile) c.55097G>T (p.Ser18366Ile) c.52139G>T (p.Ser17380Ile) c.33755G>T (p.Ser11252Ile) c.55250G>T (p.Ser18417Ile) c.55247G>T (p.Ser18416Ile) c.54680G>T (p.Ser18227Ile) c.52022G>T (p.Ser17341Ile) c.51941G>T (p.Ser17314Ile) c.33704G>T (p.Ser11235Ile) c.23558G>T (p.Ser7853Ile) | |
| 2 | g.178590916C>G | CA349479347 | TTN,TTN-AS1 | c.53105G>C (p.Ser17702Thr) c.34190G>C (p.Ser11397Thr) c.33989G>C (p.Ser11330Thr) c.33614G>C (p.Ser11205Thr) c.60809G>C (p.Ser20270Thr) c.55886G>C (p.Ser18629Thr) n.597-6680C>G n.3189-223C>G c.59906G>C (p.Ser19969Thr) c.33800G>C (p.Ser11267Thr) c.33659G>C (p.Ser11220Thr) c.59702G>C (p.Ser19901Thr) c.55100G>C (p.Ser18367Thr) c.55097G>C (p.Ser18366Thr) c.52139G>C (p.Ser17380Thr) c.33755G>C (p.Ser11252Thr) c.55250G>C (p.Ser18417Thr) c.55247G>C (p.Ser18416Thr) c.54680G>C (p.Ser18227Thr) c.52022G>C (p.Ser17341Thr) c.51941G>C (p.Ser17314Thr) c.33704G>C (p.Ser11235Thr) c.23558G>C (p.Ser7853Thr) | |
| 2 | g.178590916C>T | CA349479349 | TTN,TTN-AS1 | c.53105G>A (p.Ser17702Asn) c.34190G>A (p.Ser11397Asn) c.33989G>A (p.Ser11330Asn) c.33614G>A (p.Ser11205Asn) c.60809G>A (p.Ser20270Asn) c.55886G>A (p.Ser18629Asn) n.597-6680C>T n.3189-223C>T c.59906G>A (p.Ser19969Asn) c.33800G>A (p.Ser11267Asn) c.33659G>A (p.Ser11220Asn) c.59702G>A (p.Ser19901Asn) c.55100G>A (p.Ser18367Asn) c.55097G>A (p.Ser18366Asn) c.52139G>A (p.Ser17380Asn) c.33755G>A (p.Ser11252Asn) c.55250G>A (p.Ser18417Asn) c.55247G>A (p.Ser18416Asn) c.54680G>A (p.Ser18227Asn) c.52022G>A (p.Ser17341Asn) c.51941G>A (p.Ser17314Asn) c.33704G>A (p.Ser11235Asn) c.23558G>A (p.Ser7853Asn) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590917T>A | CA349479353 | TTN,TTN-AS1 | c.53104A>T (p.Ser17702Cys) c.34189A>T (p.Ser11397Cys) c.33988A>T (p.Ser11330Cys) c.33613A>T (p.Ser11205Cys) c.60808A>T (p.Ser20270Cys) c.55885A>T (p.Ser18629Cys) n.597-6679T>A n.3189-222T>A c.59905A>T (p.Ser19969Cys) c.33799A>T (p.Ser11267Cys) c.33658A>T (p.Ser11220Cys) c.59701A>T (p.Ser19901Cys) c.55099A>T (p.Ser18367Cys) c.55096A>T (p.Ser18366Cys) c.52138A>T (p.Ser17380Cys) c.33754A>T (p.Ser11252Cys) c.55249A>T (p.Ser18417Cys) c.55246A>T (p.Ser18416Cys) c.54679A>T (p.Ser18227Cys) c.52021A>T (p.Ser17341Cys) c.51940A>T (p.Ser17314Cys) c.33703A>T (p.Ser11235Cys) c.23557A>T (p.Ser7853Cys) | |
| 2 | g.178590917T>C | CA349479356 | TTN,TTN-AS1 | c.53104A>G (p.Ser17702Gly) c.34189A>G (p.Ser11397Gly) c.33988A>G (p.Ser11330Gly) c.33613A>G (p.Ser11205Gly) c.60808A>G (p.Ser20270Gly) c.55885A>G (p.Ser18629Gly) n.597-6679T>C n.3189-222T>C c.59905A>G (p.Ser19969Gly) c.33799A>G (p.Ser11267Gly) c.33658A>G (p.Ser11220Gly) c.59701A>G (p.Ser19901Gly) c.55099A>G (p.Ser18367Gly) c.55096A>G (p.Ser18366Gly) c.52138A>G (p.Ser17380Gly) c.33754A>G (p.Ser11252Gly) c.55249A>G (p.Ser18417Gly) c.55246A>G (p.Ser18416Gly) c.54679A>G (p.Ser18227Gly) c.52021A>G (p.Ser17341Gly) c.51940A>G (p.Ser17314Gly) c.33703A>G (p.Ser11235Gly) c.23557A>G (p.Ser7853Gly) | |
| 2 | g.178590917T>G | CA349479361 | TTN,TTN-AS1 | c.53104A>C (p.Ser17702Arg) c.34189A>C (p.Ser11397Arg) c.33988A>C (p.Ser11330Arg) c.33613A>C (p.Ser11205Arg) c.60808A>C (p.Ser20270Arg) c.55885A>C (p.Ser18629Arg) n.597-6679T>G n.3189-222T>G c.59905A>C (p.Ser19969Arg) c.33799A>C (p.Ser11267Arg) c.33658A>C (p.Ser11220Arg) c.59701A>C (p.Ser19901Arg) c.55099A>C (p.Ser18367Arg) c.55096A>C (p.Ser18366Arg) c.52138A>C (p.Ser17380Arg) c.33754A>C (p.Ser11252Arg) c.55249A>C (p.Ser18417Arg) c.55246A>C (p.Ser18416Arg) c.54679A>C (p.Ser18227Arg) c.52021A>C (p.Ser17341Arg) c.51940A>C (p.Ser17314Arg) c.33703A>C (p.Ser11235Arg) c.23557A>C (p.Ser7853Arg) | |
| 2 | g.178590918A>C | CA349479363 | TTN,TTN-AS1 | c.53103T>G (p.Phe17701Leu) c.34188T>G (p.Phe11396Leu) c.33987T>G (p.Phe11329Leu) c.33612T>G (p.Phe11204Leu) c.60807T>G (p.Phe20269Leu) c.55884T>G (p.Phe18628Leu) n.597-6678A>C n.3189-221A>C c.59904T>G (p.Phe19968Leu) c.33798T>G (p.Phe11266Leu) c.33657T>G (p.Phe11219Leu) c.59700T>G (p.Phe19900Leu) c.55098T>G (p.Phe18366Leu) c.55095T>G (p.Phe18365Leu) c.52137T>G (p.Phe17379Leu) c.33753T>G (p.Phe11251Leu) c.55248T>G (p.Phe18416Leu) c.55245T>G (p.Phe18415Leu) c.54678T>G (p.Phe18226Leu) c.52020T>G (p.Phe17340Leu) c.51939T>G (p.Phe17313Leu) c.33702T>G (p.Phe11234Leu) c.23556T>G (p.Phe7852Leu) | |
| 2 | g.178590918A>G | CA430266220 | TTN,TTN-AS1 | c.53103T>C (p.Phe17701=) c.34188T>C (p.Phe11396=) c.33987T>C (p.Phe11329=) c.33612T>C (p.Phe11204=) c.60807T>C (p.Phe20269=) c.55884T>C (p.Phe18628=) n.597-6678A>G n.3189-221A>G c.59904T>C (p.Phe19968=) c.33798T>C (p.Phe11266=) c.33657T>C (p.Phe11219=) c.59700T>C (p.Phe19900=) c.55098T>C (p.Phe18366=) c.55095T>C (p.Phe18365=) c.52137T>C (p.Phe17379=) c.33753T>C (p.Phe11251=) c.55248T>C (p.Phe18416=) c.55245T>C (p.Phe18415=) c.54678T>C (p.Phe18226=) c.52020T>C (p.Phe17340=) c.51939T>C (p.Phe17313=) c.33702T>C (p.Phe11234=) c.23556T>C (p.Phe7852=) | ClinVar |
| 2 | g.178590918A>T | CA349479369 | TTN,TTN-AS1 | c.53103T>A (p.Phe17701Leu) c.34188T>A (p.Phe11396Leu) c.33987T>A (p.Phe11329Leu) c.33612T>A (p.Phe11204Leu) c.60807T>A (p.Phe20269Leu) c.55884T>A (p.Phe18628Leu) n.597-6678A>T n.3189-221A>T c.59904T>A (p.Phe19968Leu) c.33798T>A (p.Phe11266Leu) c.33657T>A (p.Phe11219Leu) c.59700T>A (p.Phe19900Leu) c.55098T>A (p.Phe18366Leu) c.55095T>A (p.Phe18365Leu) c.52137T>A (p.Phe17379Leu) c.33753T>A (p.Phe11251Leu) c.55248T>A (p.Phe18416Leu) c.55245T>A (p.Phe18415Leu) c.54678T>A (p.Phe18226Leu) c.52020T>A (p.Phe17340Leu) c.51939T>A (p.Phe17313Leu) c.33702T>A (p.Phe11234Leu) c.23556T>A (p.Phe7852Leu) | |
| 2 | g.178590920del | CA2662130787 | TTN,TTN-AS1 | c.53103del (p.Phe17701LeufsTer?) c.34188del (p.Phe11396LeufsTer?) c.33987del (p.Phe11329LeufsTer?) c.33612del (p.Phe11204LeufsTer?) c.60807del (p.Phe20269LeufsTer?) c.55884del (p.Phe18628LeufsTer?) n.597-6676del n.3189-219del c.59904del (p.Phe19968LeufsTer?) c.33798del (p.Phe11266LeufsTer?) c.33657del (p.Phe11219LeufsTer?) c.59700del (p.Phe19900LeufsTer?) c.55098del (p.Phe18366LeufsTer?) c.55095del (p.Phe18365LeufsTer?) c.52137del (p.Phe17379LeufsTer?) c.33753del (p.Phe11251LeufsTer?) c.55248del (p.Phe18416LeufsTer?) c.55245del (p.Phe18415LeufsTer?) c.54678del (p.Phe18226LeufsTer?) c.52020del (p.Phe17340LeufsTer?) c.51939del (p.Phe17313LeufsTer?) c.33702del (p.Phe11234LeufsTer?) c.23556del (p.Phe7852LeufsTer?) | gnomAD v4 |
| 2 | g.178590919A>C | CA349479371 | TTN,TTN-AS1 | c.53102T>G (p.Phe17701Cys) c.34187T>G (p.Phe11396Cys) c.33986T>G (p.Phe11329Cys) c.33611T>G (p.Phe11204Cys) c.60806T>G (p.Phe20269Cys) c.55883T>G (p.Phe18628Cys) n.597-6677A>C n.3189-220A>C c.59903T>G (p.Phe19968Cys) c.33797T>G (p.Phe11266Cys) c.33656T>G (p.Phe11219Cys) c.59699T>G (p.Phe19900Cys) c.55097T>G (p.Phe18366Cys) c.55094T>G (p.Phe18365Cys) c.52136T>G (p.Phe17379Cys) c.33752T>G (p.Phe11251Cys) c.55247T>G (p.Phe18416Cys) c.55244T>G (p.Phe18415Cys) c.54677T>G (p.Phe18226Cys) c.52019T>G (p.Phe17340Cys) c.51938T>G (p.Phe17313Cys) c.33701T>G (p.Phe11234Cys) c.23555T>G (p.Phe7852Cys) | |
| 2 | g.178590919A>G | CA349479372 | TTN,TTN-AS1 | c.53102T>C (p.Phe17701Ser) c.34187T>C (p.Phe11396Ser) c.33986T>C (p.Phe11329Ser) c.33611T>C (p.Phe11204Ser) c.60806T>C (p.Phe20269Ser) c.55883T>C (p.Phe18628Ser) n.597-6677A>G n.3189-220A>G c.59903T>C (p.Phe19968Ser) c.33797T>C (p.Phe11266Ser) c.33656T>C (p.Phe11219Ser) c.59699T>C (p.Phe19900Ser) c.55097T>C (p.Phe18366Ser) c.55094T>C (p.Phe18365Ser) c.52136T>C (p.Phe17379Ser) c.33752T>C (p.Phe11251Ser) c.55247T>C (p.Phe18416Ser) c.55244T>C (p.Phe18415Ser) c.54677T>C (p.Phe18226Ser) c.52019T>C (p.Phe17340Ser) c.51938T>C (p.Phe17313Ser) c.33701T>C (p.Phe11234Ser) c.23555T>C (p.Phe7852Ser) |