Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178590825G>ACA430266262TTN,TTN-AS1c.53196C>T (p.Gly17732=)
c.34281C>T (p.Gly11427=)
c.34080C>T (p.Gly11360=)
c.33705C>T (p.Gly11235=)
c.60900C>T (p.Gly20300=)
c.55977C>T (p.Gly18659=)
n.597-6771G>A
n.3189-314G>A
c.59997C>T (p.Gly19999=)
c.33891C>T (p.Gly11297=)
c.33750C>T (p.Gly11250=)
c.59793C>T (p.Gly19931=)
c.55191C>T (p.Gly18397=)
c.55188C>T (p.Gly18396=)
c.52230C>T (p.Gly17410=)
c.33846C>T (p.Gly11282=)
c.55341C>T (p.Gly18447=)
c.55338C>T (p.Gly18446=)
c.54771C>T (p.Gly18257=)
c.52113C>T (p.Gly17371=)
c.52032C>T (p.Gly17344=)
c.33795C>T (p.Gly11265=)
c.23649C>T (p.Gly7883=)
 gnomAD v4
2g.178590825G>CCA430266264TTN,TTN-AS1c.53196C>G (p.Gly17732=)
c.34281C>G (p.Gly11427=)
c.34080C>G (p.Gly11360=)
c.33705C>G (p.Gly11235=)
c.60900C>G (p.Gly20300=)
c.55977C>G (p.Gly18659=)
n.597-6771G>C
n.3189-314G>C
c.59997C>G (p.Gly19999=)
c.33891C>G (p.Gly11297=)
c.33750C>G (p.Gly11250=)
c.59793C>G (p.Gly19931=)
c.55191C>G (p.Gly18397=)
c.55188C>G (p.Gly18396=)
c.52230C>G (p.Gly17410=)
c.33846C>G (p.Gly11282=)
c.55341C>G (p.Gly18447=)
c.55338C>G (p.Gly18446=)
c.54771C>G (p.Gly18257=)
c.52113C>G (p.Gly17371=)
c.52032C>G (p.Gly17344=)
c.33795C>G (p.Gly11265=)
c.23649C>G (p.Gly7883=)
2g.178590825G>TCA430266266TTN,TTN-AS1c.53196C>A (p.Gly17732=)
c.34281C>A (p.Gly11427=)
c.34080C>A (p.Gly11360=)
c.33705C>A (p.Gly11235=)
c.60900C>A (p.Gly20300=)
c.55977C>A (p.Gly18659=)
n.597-6771G>T
n.3189-314G>T
c.59997C>A (p.Gly19999=)
c.33891C>A (p.Gly11297=)
c.33750C>A (p.Gly11250=)
c.59793C>A (p.Gly19931=)
c.55191C>A (p.Gly18397=)
c.55188C>A (p.Gly18396=)
c.52230C>A (p.Gly17410=)
c.33846C>A (p.Gly11282=)
c.55341C>A (p.Gly18447=)
c.55338C>A (p.Gly18446=)
c.54771C>A (p.Gly18257=)
c.52113C>A (p.Gly17371=)
c.52032C>A (p.Gly17344=)
c.33795C>A (p.Gly11265=)
c.23649C>A (p.Gly7883=)
2g.178590826C>ACA349478647TTN,TTN-AS1c.53195G>T (p.Gly17732Val)
c.34280G>T (p.Gly11427Val)
c.34079G>T (p.Gly11360Val)
c.33704G>T (p.Gly11235Val)
c.60899G>T (p.Gly20300Val)
c.55976G>T (p.Gly18659Val)
n.597-6770C>A
n.3189-313C>A
c.59996G>T (p.Gly19999Val)
c.33890G>T (p.Gly11297Val)
c.33749G>T (p.Gly11250Val)
c.59792G>T (p.Gly19931Val)
c.55190G>T (p.Gly18397Val)
c.55187G>T (p.Gly18396Val)
c.52229G>T (p.Gly17410Val)
c.33845G>T (p.Gly11282Val)
c.55340G>T (p.Gly18447Val)
c.55337G>T (p.Gly18446Val)
c.54770G>T (p.Gly18257Val)
c.52112G>T (p.Gly17371Val)
c.52031G>T (p.Gly17344Val)
c.33794G>T (p.Gly11265Val)
c.23648G>T (p.Gly7883Val)
2g.178590826C>GCA349478650TTN,TTN-AS1c.53195G>C (p.Gly17732Ala)
c.34280G>C (p.Gly11427Ala)
c.34079G>C (p.Gly11360Ala)
c.33704G>C (p.Gly11235Ala)
c.60899G>C (p.Gly20300Ala)
c.55976G>C (p.Gly18659Ala)
n.597-6770C>G
n.3189-313C>G
c.59996G>C (p.Gly19999Ala)
c.33890G>C (p.Gly11297Ala)
c.33749G>C (p.Gly11250Ala)
c.59792G>C (p.Gly19931Ala)
c.55190G>C (p.Gly18397Ala)
c.55187G>C (p.Gly18396Ala)
c.52229G>C (p.Gly17410Ala)
c.33845G>C (p.Gly11282Ala)
c.55340G>C (p.Gly18447Ala)
c.55337G>C (p.Gly18446Ala)
c.54770G>C (p.Gly18257Ala)
c.52112G>C (p.Gly17371Ala)
c.52031G>C (p.Gly17344Ala)
c.33794G>C (p.Gly11265Ala)
c.23648G>C (p.Gly7883Ala)
2g.178590826C>TCA349478656TTN,TTN-AS1c.53195G>A (p.Gly17732Asp)
c.34280G>A (p.Gly11427Asp)
c.34079G>A (p.Gly11360Asp)
c.33704G>A (p.Gly11235Asp)
c.60899G>A (p.Gly20300Asp)
c.55976G>A (p.Gly18659Asp)
n.597-6770C>T
n.3189-313C>T
c.59996G>A (p.Gly19999Asp)
c.33890G>A (p.Gly11297Asp)
c.33749G>A (p.Gly11250Asp)
c.59792G>A (p.Gly19931Asp)
c.55190G>A (p.Gly18397Asp)
c.55187G>A (p.Gly18396Asp)
c.52229G>A (p.Gly17410Asp)
c.33845G>A (p.Gly11282Asp)
c.55340G>A (p.Gly18447Asp)
c.55337G>A (p.Gly18446Asp)
c.54770G>A (p.Gly18257Asp)
c.52112G>A (p.Gly17371Asp)
c.52031G>A (p.Gly17344Asp)
c.33794G>A (p.Gly11265Asp)
c.23648G>A (p.Gly7883Asp)
2g.178590827C>ACA349478658TTN,TTN-AS1c.53194G>T (p.Gly17732Cys)
c.34279G>T (p.Gly11427Cys)
c.34078G>T (p.Gly11360Cys)
c.33703G>T (p.Gly11235Cys)
c.60898G>T (p.Gly20300Cys)
c.55975G>T (p.Gly18659Cys)
n.597-6769C>A
n.3189-312C>A
c.59995G>T (p.Gly19999Cys)
c.33889G>T (p.Gly11297Cys)
c.33748G>T (p.Gly11250Cys)
c.59791G>T (p.Gly19931Cys)
c.55189G>T (p.Gly18397Cys)
c.55186G>T (p.Gly18396Cys)
c.52228G>T (p.Gly17410Cys)
c.33844G>T (p.Gly11282Cys)
c.55339G>T (p.Gly18447Cys)
c.55336G>T (p.Gly18446Cys)
c.54769G>T (p.Gly18257Cys)
c.52111G>T (p.Gly17371Cys)
c.52030G>T (p.Gly17344Cys)
c.33793G>T (p.Gly11265Cys)
c.23647G>T (p.Gly7883Cys)
 COSMIC COSMIC COSMIC COSMIC
2g.178590827C>GCA349478660TTN,TTN-AS1c.53194G>C (p.Gly17732Arg)
c.34279G>C (p.Gly11427Arg)
c.34078G>C (p.Gly11360Arg)
c.33703G>C (p.Gly11235Arg)
c.60898G>C (p.Gly20300Arg)
c.55975G>C (p.Gly18659Arg)
n.597-6769C>G
n.3189-312C>G
c.59995G>C (p.Gly19999Arg)
c.33889G>C (p.Gly11297Arg)
c.33748G>C (p.Gly11250Arg)
c.59791G>C (p.Gly19931Arg)
c.55189G>C (p.Gly18397Arg)
c.55186G>C (p.Gly18396Arg)
c.52228G>C (p.Gly17410Arg)
c.33844G>C (p.Gly11282Arg)
c.55339G>C (p.Gly18447Arg)
c.55336G>C (p.Gly18446Arg)
c.54769G>C (p.Gly18257Arg)
c.52111G>C (p.Gly17371Arg)
c.52030G>C (p.Gly17344Arg)
c.33793G>C (p.Gly11265Arg)
c.23647G>C (p.Gly7883Arg)
2g.178590827C>TCA349478661TTN,TTN-AS1c.53194G>A (p.Gly17732Ser)
c.34279G>A (p.Gly11427Ser)
c.34078G>A (p.Gly11360Ser)
c.33703G>A (p.Gly11235Ser)
c.60898G>A (p.Gly20300Ser)
c.55975G>A (p.Gly18659Ser)
n.597-6769C>T
n.3189-312C>T
c.59995G>A (p.Gly19999Ser)
c.33889G>A (p.Gly11297Ser)
c.33748G>A (p.Gly11250Ser)
c.59791G>A (p.Gly19931Ser)
c.55189G>A (p.Gly18397Ser)
c.55186G>A (p.Gly18396Ser)
c.52228G>A (p.Gly17410Ser)
c.33844G>A (p.Gly11282Ser)
c.55339G>A (p.Gly18447Ser)
c.55336G>A (p.Gly18446Ser)
c.54769G>A (p.Gly18257Ser)
c.52111G>A (p.Gly17371Ser)
c.52030G>A (p.Gly17344Ser)
c.33793G>A (p.Gly11265Ser)
c.23647G>A (p.Gly7883Ser)
2g.178590828A=CA1310539533TTN,TTN-AS1c.53193T= (p.Gly17731=)
c.34278T= (p.Gly11426=)
c.34077T= (p.Gly11359=)
c.33702T= (p.Gly11234=)
c.60897T= (p.Gly20299=)
c.55974T= (p.Gly18658=)
n.597-6768A=
n.3189-311A=
c.59994T= (p.Gly19998=)
c.33888T= (p.Gly11296=)
c.33747T= (p.Gly11249=)
c.59790T= (p.Gly19930=)
c.55188T= (p.Gly18396=)
c.55185T= (p.Gly18395=)
c.52227T= (p.Gly17409=)
c.33843T= (p.Gly11281=)
c.55338T= (p.Gly18446=)
c.55335T= (p.Gly18445=)
c.54768T= (p.Gly18256=)
c.52110T= (p.Gly17370=)
c.52029T= (p.Gly17343=)
c.33792T= (p.Gly11264=)
c.23646T= (p.Gly7882=)
2g.178590828A>CCA430266273TTN,TTN-AS1c.53193T>G (p.Gly17731=)
c.34278T>G (p.Gly11426=)
c.34077T>G (p.Gly11359=)
c.33702T>G (p.Gly11234=)
c.60897T>G (p.Gly20299=)
c.55974T>G (p.Gly18658=)
n.597-6768A>C
n.3189-311A>C
c.59994T>G (p.Gly19998=)
c.33888T>G (p.Gly11296=)
c.33747T>G (p.Gly11249=)
c.59790T>G (p.Gly19930=)
c.55188T>G (p.Gly18396=)
c.55185T>G (p.Gly18395=)
c.52227T>G (p.Gly17409=)
c.33843T>G (p.Gly11281=)
c.55338T>G (p.Gly18446=)
c.55335T>G (p.Gly18445=)
c.54768T>G (p.Gly18256=)
c.52110T>G (p.Gly17370=)
c.52029T>G (p.Gly17343=)
c.33792T>G (p.Gly11264=)
c.23646T>G (p.Gly7882=)
2g.178590828A>GCA430266274TTN,TTN-AS1c.53193T>C (p.Gly17731=)
c.34278T>C (p.Gly11426=)
c.34077T>C (p.Gly11359=)
c.33702T>C (p.Gly11234=)
c.60897T>C (p.Gly20299=)
c.55974T>C (p.Gly18658=)
n.597-6768A>G
n.3189-311A>G
c.59994T>C (p.Gly19998=)
c.33888T>C (p.Gly11296=)
c.33747T>C (p.Gly11249=)
c.59790T>C (p.Gly19930=)
c.55188T>C (p.Gly18396=)
c.55185T>C (p.Gly18395=)
c.52227T>C (p.Gly17409=)
c.33843T>C (p.Gly11281=)
c.55338T>C (p.Gly18446=)
c.55335T>C (p.Gly18445=)
c.54768T>C (p.Gly18256=)
c.52110T>C (p.Gly17370=)
c.52029T>C (p.Gly17343=)
c.33792T>C (p.Gly11264=)
c.23646T>C (p.Gly7882=)
2g.178590828A>TCA1992431TTN,TTN-AS1c.53193T>A (p.Gly17731=)
c.34278T>A (p.Gly11426=)
c.34077T>A (p.Gly11359=)
c.33702T>A (p.Gly11234=)
c.60897T>A (p.Gly20299=)
c.55974T>A (p.Gly18658=)
n.597-6768A>T
n.3189-311A>T
c.59994T>A (p.Gly19998=)
c.33888T>A (p.Gly11296=)
c.33747T>A (p.Gly11249=)
c.59790T>A (p.Gly19930=)
c.55188T>A (p.Gly18396=)
c.55185T>A (p.Gly18395=)
c.52227T>A (p.Gly17409=)
c.33843T>A (p.Gly11281=)
c.55338T>A (p.Gly18446=)
c.55335T>A (p.Gly18445=)
c.54768T>A (p.Gly18256=)
c.52110T>A (p.Gly17370=)
c.52029T>A (p.Gly17343=)
c.33792T>A (p.Gly11264=)
c.23646T>A (p.Gly7882=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178590829C>ACA349478670TTN,TTN-AS1c.53192G>T (p.Gly17731Val)
c.34277G>T (p.Gly11426Val)
c.34076G>T (p.Gly11359Val)
c.33701G>T (p.Gly11234Val)
c.60896G>T (p.Gly20299Val)
c.55973G>T (p.Gly18658Val)
n.597-6767C>A
n.3189-310C>A
c.59993G>T (p.Gly19998Val)
c.33887G>T (p.Gly11296Val)
c.33746G>T (p.Gly11249Val)
c.59789G>T (p.Gly19930Val)
c.55187G>T (p.Gly18396Val)
c.55184G>T (p.Gly18395Val)
c.52226G>T (p.Gly17409Val)
c.33842G>T (p.Gly11281Val)
c.55337G>T (p.Gly18446Val)
c.55334G>T (p.Gly18445Val)
c.54767G>T (p.Gly18256Val)
c.52109G>T (p.Gly17370Val)
c.52028G>T (p.Gly17343Val)
c.33791G>T (p.Gly11264Val)
c.23645G>T (p.Gly7882Val)
2g.178590829C>GCA349478668TTN,TTN-AS1c.53192G>C (p.Gly17731Ala)
c.34277G>C (p.Gly11426Ala)
c.34076G>C (p.Gly11359Ala)
c.33701G>C (p.Gly11234Ala)
c.60896G>C (p.Gly20299Ala)
c.55973G>C (p.Gly18658Ala)
n.597-6767C>G
n.3189-310C>G
c.59993G>C (p.Gly19998Ala)
c.33887G>C (p.Gly11296Ala)
c.33746G>C (p.Gly11249Ala)
c.59789G>C (p.Gly19930Ala)
c.55187G>C (p.Gly18396Ala)
c.55184G>C (p.Gly18395Ala)
c.52226G>C (p.Gly17409Ala)
c.33842G>C (p.Gly11281Ala)
c.55337G>C (p.Gly18446Ala)
c.55334G>C (p.Gly18445Ala)
c.54767G>C (p.Gly18256Ala)
c.52109G>C (p.Gly17370Ala)
c.52028G>C (p.Gly17343Ala)
c.33791G>C (p.Gly11264Ala)
c.23645G>C (p.Gly7882Ala)
2g.178590829C>TCA349478669TTN,TTN-AS1c.53192G>A (p.Gly17731Asp)
c.34277G>A (p.Gly11426Asp)
c.34076G>A (p.Gly11359Asp)
c.33701G>A (p.Gly11234Asp)
c.60896G>A (p.Gly20299Asp)
c.55973G>A (p.Gly18658Asp)
n.597-6767C>T
n.3189-310C>T
c.59993G>A (p.Gly19998Asp)
c.33887G>A (p.Gly11296Asp)
c.33746G>A (p.Gly11249Asp)
c.59789G>A (p.Gly19930Asp)
c.55187G>A (p.Gly18396Asp)
c.55184G>A (p.Gly18395Asp)
c.52226G>A (p.Gly17409Asp)
c.33842G>A (p.Gly11281Asp)
c.55337G>A (p.Gly18446Asp)
c.55334G>A (p.Gly18445Asp)
c.54767G>A (p.Gly18256Asp)
c.52109G>A (p.Gly17370Asp)
c.52028G>A (p.Gly17343Asp)
c.33791G>A (p.Gly11264Asp)
c.23645G>A (p.Gly7882Asp)
 ClinVar
2g.178590830C>ACA349478671TTN,TTN-AS1c.53191G>T (p.Gly17731Cys)
c.34276G>T (p.Gly11426Cys)
c.34075G>T (p.Gly11359Cys)
c.33700G>T (p.Gly11234Cys)
c.60895G>T (p.Gly20299Cys)
c.55972G>T (p.Gly18658Cys)
n.597-6766C>A
n.3189-309C>A
c.59992G>T (p.Gly19998Cys)
c.33886G>T (p.Gly11296Cys)
c.33745G>T (p.Gly11249Cys)
c.59788G>T (p.Gly19930Cys)
c.55186G>T (p.Gly18396Cys)
c.55183G>T (p.Gly18395Cys)
c.52225G>T (p.Gly17409Cys)
c.33841G>T (p.Gly11281Cys)
c.55336G>T (p.Gly18446Cys)
c.55333G>T (p.Gly18445Cys)
c.54766G>T (p.Gly18256Cys)
c.52108G>T (p.Gly17370Cys)
c.52027G>T (p.Gly17343Cys)
c.33790G>T (p.Gly11264Cys)
c.23644G>T (p.Gly7882Cys)
2g.178590830C>GCA349478672TTN,TTN-AS1c.53191G>C (p.Gly17731Arg)
c.34276G>C (p.Gly11426Arg)
c.34075G>C (p.Gly11359Arg)
c.33700G>C (p.Gly11234Arg)
c.60895G>C (p.Gly20299Arg)
c.55972G>C (p.Gly18658Arg)
n.597-6766C>G
n.3189-309C>G
c.59992G>C (p.Gly19998Arg)
c.33886G>C (p.Gly11296Arg)
c.33745G>C (p.Gly11249Arg)
c.59788G>C (p.Gly19930Arg)
c.55186G>C (p.Gly18396Arg)
c.55183G>C (p.Gly18395Arg)
c.52225G>C (p.Gly17409Arg)
c.33841G>C (p.Gly11281Arg)
c.55336G>C (p.Gly18446Arg)
c.55333G>C (p.Gly18445Arg)
c.54766G>C (p.Gly18256Arg)
c.52108G>C (p.Gly17370Arg)
c.52027G>C (p.Gly17343Arg)
c.33790G>C (p.Gly11264Arg)
c.23644G>C (p.Gly7882Arg)
2g.178590830C>TCA349478674TTN,TTN-AS1c.53191G>A (p.Gly17731Ser)
c.34276G>A (p.Gly11426Ser)
c.34075G>A (p.Gly11359Ser)
c.33700G>A (p.Gly11234Ser)
c.60895G>A (p.Gly20299Ser)
c.55972G>A (p.Gly18658Ser)
n.597-6766C>T
n.3189-309C>T
c.59992G>A (p.Gly19998Ser)
c.33886G>A (p.Gly11296Ser)
c.33745G>A (p.Gly11249Ser)
c.59788G>A (p.Gly19930Ser)
c.55186G>A (p.Gly18396Ser)
c.55183G>A (p.Gly18395Ser)
c.52225G>A (p.Gly17409Ser)
c.33841G>A (p.Gly11281Ser)
c.55336G>A (p.Gly18446Ser)
c.55333G>A (p.Gly18445Ser)
c.54766G>A (p.Gly18256Ser)
c.52108G>A (p.Gly17370Ser)
c.52027G>A (p.Gly17343Ser)
c.33790G>A (p.Gly11264Ser)
c.23644G>A (p.Gly7882Ser)
2g.178590831A=CA1310539534TTN,TTN-AS1c.53190T= (p.Asp17730=)
c.34275T= (p.Asp11425=)
c.34074T= (p.Asp11358=)
c.33699T= (p.Asp11233=)
c.60894T= (p.Asp20298=)
c.55971T= (p.Asp18657=)
n.597-6765A=
n.3189-308A=
c.59991T= (p.Asp19997=)
c.33885T= (p.Asp11295=)
c.33744T= (p.Asp11248=)
c.59787T= (p.Asp19929=)
c.55185T= (p.Asp18395=)
c.55182T= (p.Asp18394=)
c.52224T= (p.Asp17408=)
c.33840T= (p.Asp11280=)
c.55335T= (p.Asp18445=)
c.55332T= (p.Asp18444=)
c.54765T= (p.Asp18255=)
c.52107T= (p.Asp17369=)
c.52026T= (p.Asp17342=)
c.33789T= (p.Asp11263=)
c.23643T= (p.Asp7881=)
2g.178590831A>CCA349478678TTN,TTN-AS1c.53190T>G (p.Asp17730Glu)
c.34275T>G (p.Asp11425Glu)
c.34074T>G (p.Asp11358Glu)
c.33699T>G (p.Asp11233Glu)
c.60894T>G (p.Asp20298Glu)
c.55971T>G (p.Asp18657Glu)
n.597-6765A>C
n.3189-308A>C
c.59991T>G (p.Asp19997Glu)
c.33885T>G (p.Asp11295Glu)
c.33744T>G (p.Asp11248Glu)
c.59787T>G (p.Asp19929Glu)
c.55185T>G (p.Asp18395Glu)
c.55182T>G (p.Asp18394Glu)
c.52224T>G (p.Asp17408Glu)
c.33840T>G (p.Asp11280Glu)
c.55335T>G (p.Asp18445Glu)
c.55332T>G (p.Asp18444Glu)
c.54765T>G (p.Asp18255Glu)
c.52107T>G (p.Asp17369Glu)
c.52026T>G (p.Asp17342Glu)
c.33789T>G (p.Asp11263Glu)
c.23643T>G (p.Asp7881Glu)
2g.178590831A>GCA430266278TTN,TTN-AS1c.53190T>C (p.Asp17730=)
c.34275T>C (p.Asp11425=)
c.34074T>C (p.Asp11358=)
c.33699T>C (p.Asp11233=)
c.60894T>C (p.Asp20298=)
c.55971T>C (p.Asp18657=)
n.597-6765A>G
n.3189-308A>G
c.59991T>C (p.Asp19997=)
c.33885T>C (p.Asp11295=)
c.33744T>C (p.Asp11248=)
c.59787T>C (p.Asp19929=)
c.55185T>C (p.Asp18395=)
c.55182T>C (p.Asp18394=)
c.52224T>C (p.Asp17408=)
c.33840T>C (p.Asp11280=)
c.55335T>C (p.Asp18445=)
c.55332T>C (p.Asp18444=)
c.54765T>C (p.Asp18255=)
c.52107T>C (p.Asp17369=)
c.52026T>C (p.Asp17342=)
c.33789T>C (p.Asp11263=)
c.23643T>C (p.Asp7881=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178590831A>TCA349478680TTN,TTN-AS1c.53190T>A (p.Asp17730Glu)
c.34275T>A (p.Asp11425Glu)
c.34074T>A (p.Asp11358Glu)
c.33699T>A (p.Asp11233Glu)
c.60894T>A (p.Asp20298Glu)
c.55971T>A (p.Asp18657Glu)
n.597-6765A>T
n.3189-308A>T
c.59991T>A (p.Asp19997Glu)
c.33885T>A (p.Asp11295Glu)
c.33744T>A (p.Asp11248Glu)
c.59787T>A (p.Asp19929Glu)
c.55185T>A (p.Asp18395Glu)
c.55182T>A (p.Asp18394Glu)
c.52224T>A (p.Asp17408Glu)
c.33840T>A (p.Asp11280Glu)
c.55335T>A (p.Asp18445Glu)
c.55332T>A (p.Asp18444Glu)
c.54765T>A (p.Asp18255Glu)
c.52107T>A (p.Asp17369Glu)
c.52026T>A (p.Asp17342Glu)
c.33789T>A (p.Asp11263Glu)
c.23643T>A (p.Asp7881Glu)
2g.178590832T>ACA349478683TTN,TTN-AS1c.53189A>T (p.Asp17730Val)
c.34274A>T (p.Asp11425Val)
c.34073A>T (p.Asp11358Val)
c.33698A>T (p.Asp11233Val)
c.60893A>T (p.Asp20298Val)
c.55970A>T (p.Asp18657Val)
n.597-6764T>A
n.3189-307T>A
c.59990A>T (p.Asp19997Val)
c.33884A>T (p.Asp11295Val)
c.33743A>T (p.Asp11248Val)
c.59786A>T (p.Asp19929Val)
c.55184A>T (p.Asp18395Val)
c.55181A>T (p.Asp18394Val)
c.52223A>T (p.Asp17408Val)
c.33839A>T (p.Asp11280Val)
c.55334A>T (p.Asp18445Val)
c.55331A>T (p.Asp18444Val)
c.54764A>T (p.Asp18255Val)
c.52106A>T (p.Asp17369Val)
c.52025A>T (p.Asp17342Val)
c.33788A>T (p.Asp11263Val)
c.23642A>T (p.Asp7881Val)
2g.178590832T>CCA349478691TTN,TTN-AS1c.53189A>G (p.Asp17730Gly)
c.34274A>G (p.Asp11425Gly)
c.34073A>G (p.Asp11358Gly)
c.33698A>G (p.Asp11233Gly)
c.60893A>G (p.Asp20298Gly)
c.55970A>G (p.Asp18657Gly)
n.597-6764T>C
n.3189-307T>C
c.59990A>G (p.Asp19997Gly)
c.33884A>G (p.Asp11295Gly)
c.33743A>G (p.Asp11248Gly)
c.59786A>G (p.Asp19929Gly)
c.55184A>G (p.Asp18395Gly)
c.55181A>G (p.Asp18394Gly)
c.52223A>G (p.Asp17408Gly)
c.33839A>G (p.Asp11280Gly)
c.55334A>G (p.Asp18445Gly)
c.55331A>G (p.Asp18444Gly)
c.54764A>G (p.Asp18255Gly)
c.52106A>G (p.Asp17369Gly)
c.52025A>G (p.Asp17342Gly)
c.33788A>G (p.Asp11263Gly)
c.23642A>G (p.Asp7881Gly)
 gnomAD v4
2g.178590832T>GCA349478687TTN,TTN-AS1c.53189A>C (p.Asp17730Ala)
c.34274A>C (p.Asp11425Ala)
c.34073A>C (p.Asp11358Ala)
c.33698A>C (p.Asp11233Ala)
c.60893A>C (p.Asp20298Ala)
c.55970A>C (p.Asp18657Ala)
n.597-6764T>G
n.3189-307T>G
c.59990A>C (p.Asp19997Ala)
c.33884A>C (p.Asp11295Ala)
c.33743A>C (p.Asp11248Ala)
c.59786A>C (p.Asp19929Ala)
c.55184A>C (p.Asp18395Ala)
c.55181A>C (p.Asp18394Ala)
c.52223A>C (p.Asp17408Ala)
c.33839A>C (p.Asp11280Ala)
c.55334A>C (p.Asp18445Ala)
c.55331A>C (p.Asp18444Ala)
c.54764A>C (p.Asp18255Ala)
c.52106A>C (p.Asp17369Ala)
c.52025A>C (p.Asp17342Ala)
c.33788A>C (p.Asp11263Ala)
c.23642A>C (p.Asp7881Ala)
2g.178590833C>ACA1992432TTN,TTN-AS1c.53188G>T (p.Asp17730Tyr)
c.34273G>T (p.Asp11425Tyr)
c.34072G>T (p.Asp11358Tyr)
c.33697G>T (p.Asp11233Tyr)
c.60892G>T (p.Asp20298Tyr)
c.55969G>T (p.Asp18657Tyr)
n.597-6763C>A
n.3189-306C>A
c.59989G>T (p.Asp19997Tyr)
c.33883G>T (p.Asp11295Tyr)
c.33742G>T (p.Asp11248Tyr)
c.59785G>T (p.Asp19929Tyr)
c.55183G>T (p.Asp18395Tyr)
c.55180G>T (p.Asp18394Tyr)
c.52222G>T (p.Asp17408Tyr)
c.33838G>T (p.Asp11280Tyr)
c.55333G>T (p.Asp18445Tyr)
c.55330G>T (p.Asp18444Tyr)
c.54763G>T (p.Asp18255Tyr)
c.52105G>T (p.Asp17369Tyr)
c.52024G>T (p.Asp17342Tyr)
c.33787G>T (p.Asp11263Tyr)
c.23641G>T (p.Asp7881Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178590833C=CA1310539537TTN,TTN-AS1c.53188G= (p.Asp17730=)
c.34273G= (p.Asp11425=)
c.34072G= (p.Asp11358=)
c.33697G= (p.Asp11233=)
c.60892G= (p.Asp20298=)
c.55969G= (p.Asp18657=)
n.597-6763C=
n.3189-306C=
c.59989G= (p.Asp19997=)
c.33883G= (p.Asp11295=)
c.33742G= (p.Asp11248=)
c.59785G= (p.Asp19929=)
c.55183G= (p.Asp18395=)
c.55180G= (p.Asp18394=)
c.52222G= (p.Asp17408=)
c.33838G= (p.Asp11280=)
c.55333G= (p.Asp18445=)
c.55330G= (p.Asp18444=)
c.54763G= (p.Asp18255=)
c.52105G= (p.Asp17369=)
c.52024G= (p.Asp17342=)
c.33787G= (p.Asp11263=)
c.23641G= (p.Asp7881=)
2g.178590833C>GCA349478695TTN,TTN-AS1c.53188G>C (p.Asp17730His)
c.34273G>C (p.Asp11425His)
c.34072G>C (p.Asp11358His)
c.33697G>C (p.Asp11233His)
c.60892G>C (p.Asp20298His)
c.55969G>C (p.Asp18657His)
n.597-6763C>G
n.3189-306C>G
c.59989G>C (p.Asp19997His)
c.33883G>C (p.Asp11295His)
c.33742G>C (p.Asp11248His)
c.59785G>C (p.Asp19929His)
c.55183G>C (p.Asp18395His)
c.55180G>C (p.Asp18394His)
c.52222G>C (p.Asp17408His)
c.33838G>C (p.Asp11280His)
c.55333G>C (p.Asp18445His)
c.55330G>C (p.Asp18444His)
c.54763G>C (p.Asp18255His)
c.52105G>C (p.Asp17369His)
c.52024G>C (p.Asp17342His)
c.33787G>C (p.Asp11263His)
c.23641G>C (p.Asp7881His)
 COSMIC COSMIC COSMIC COSMIC
2g.178590833C>TCA349478700TTN,TTN-AS1c.53188G>A (p.Asp17730Asn)
c.34273G>A (p.Asp11425Asn)
c.34072G>A (p.Asp11358Asn)
c.33697G>A (p.Asp11233Asn)
c.60892G>A (p.Asp20298Asn)
c.55969G>A (p.Asp18657Asn)
n.597-6763C>T
n.3189-306C>T
c.59989G>A (p.Asp19997Asn)
c.33883G>A (p.Asp11295Asn)
c.33742G>A (p.Asp11248Asn)
c.59785G>A (p.Asp19929Asn)
c.55183G>A (p.Asp18395Asn)
c.55180G>A (p.Asp18394Asn)
c.52222G>A (p.Asp17408Asn)
c.33838G>A (p.Asp11280Asn)
c.55333G>A (p.Asp18445Asn)
c.55330G>A (p.Asp18444Asn)
c.54763G>A (p.Asp18255Asn)
c.52105G>A (p.Asp17369Asn)
c.52024G>A (p.Asp17342Asn)
c.33787G>A (p.Asp11263Asn)
c.23641G>A (p.Asp7881Asn)
2g.178590834A=CA1310539539TTN,TTN-AS1c.53187T= (p.Ser17729=)
c.34272T= (p.Ser11424=)
c.34071T= (p.Ser11357=)
c.33696T= (p.Ser11232=)
c.60891T= (p.Ser20297=)
c.55968T= (p.Ser18656=)
n.597-6762A=
n.3189-305A=
c.59988T= (p.Ser19996=)
c.33882T= (p.Ser11294=)
c.33741T= (p.Ser11247=)
c.59784T= (p.Ser19928=)
c.55182T= (p.Ser18394=)
c.55179T= (p.Ser18393=)
c.52221T= (p.Ser17407=)
c.33837T= (p.Ser11279=)
c.55332T= (p.Ser18444=)
c.55329T= (p.Ser18443=)
c.54762T= (p.Ser18254=)
c.52104T= (p.Ser17368=)
c.52023T= (p.Ser17341=)
c.33786T= (p.Ser11262=)
c.23640T= (p.Ser7880=)
2g.178590834A>CCA1992433TTN,TTN-AS1c.53187T>G (p.Ser17729=)
c.34272T>G (p.Ser11424=)
c.34071T>G (p.Ser11357=)
c.33696T>G (p.Ser11232=)
c.60891T>G (p.Ser20297=)
c.55968T>G (p.Ser18656=)
n.597-6762A>C
n.3189-305A>C
c.59988T>G (p.Ser19996=)
c.33882T>G (p.Ser11294=)
c.33741T>G (p.Ser11247=)
c.59784T>G (p.Ser19928=)
c.55182T>G (p.Ser18394=)
c.55179T>G (p.Ser18393=)
c.52221T>G (p.Ser17407=)
c.33837T>G (p.Ser11279=)
c.55332T>G (p.Ser18444=)
c.55329T>G (p.Ser18443=)
c.54762T>G (p.Ser18254=)
c.52104T>G (p.Ser17368=)
c.52023T>G (p.Ser17341=)
c.33786T>G (p.Ser11262=)
c.23640T>G (p.Ser7880=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590834A>GCA430266281TTN,TTN-AS1c.53187T>C (p.Ser17729=)
c.34272T>C (p.Ser11424=)
c.34071T>C (p.Ser11357=)
c.33696T>C (p.Ser11232=)
c.60891T>C (p.Ser20297=)
c.55968T>C (p.Ser18656=)
n.597-6762A>G
n.3189-305A>G
c.59988T>C (p.Ser19996=)
c.33882T>C (p.Ser11294=)
c.33741T>C (p.Ser11247=)
c.59784T>C (p.Ser19928=)
c.55182T>C (p.Ser18394=)
c.55179T>C (p.Ser18393=)
c.52221T>C (p.Ser17407=)
c.33837T>C (p.Ser11279=)
c.55332T>C (p.Ser18444=)
c.55329T>C (p.Ser18443=)
c.54762T>C (p.Ser18254=)
c.52104T>C (p.Ser17368=)
c.52023T>C (p.Ser17341=)
c.33786T>C (p.Ser11262=)
c.23640T>C (p.Ser7880=)
 gnomAD v4
2g.178590834A>TCA430266280TTN,TTN-AS1c.53187T>A (p.Ser17729=)
c.34272T>A (p.Ser11424=)
c.34071T>A (p.Ser11357=)
c.33696T>A (p.Ser11232=)
c.60891T>A (p.Ser20297=)
c.55968T>A (p.Ser18656=)
n.597-6762A>T
n.3189-305A>T
c.59988T>A (p.Ser19996=)
c.33882T>A (p.Ser11294=)
c.33741T>A (p.Ser11247=)
c.59784T>A (p.Ser19928=)
c.55182T>A (p.Ser18394=)
c.55179T>A (p.Ser18393=)
c.52221T>A (p.Ser17407=)
c.33837T>A (p.Ser11279=)
c.55332T>A (p.Ser18444=)
c.55329T>A (p.Ser18443=)
c.54762T>A (p.Ser18254=)
c.52104T>A (p.Ser17368=)
c.52023T>A (p.Ser17341=)
c.33786T>A (p.Ser11262=)
c.23640T>A (p.Ser7880=)
2g.178590835G>ACA349478706TTN,TTN-AS1c.53186C>T (p.Ser17729Phe)
c.34271C>T (p.Ser11424Phe)
c.34070C>T (p.Ser11357Phe)
c.33695C>T (p.Ser11232Phe)
c.60890C>T (p.Ser20297Phe)
c.55967C>T (p.Ser18656Phe)
n.597-6761G>A
n.3189-304G>A
c.59987C>T (p.Ser19996Phe)
c.33881C>T (p.Ser11294Phe)
c.33740C>T (p.Ser11247Phe)
c.59783C>T (p.Ser19928Phe)
c.55181C>T (p.Ser18394Phe)
c.55178C>T (p.Ser18393Phe)
c.52220C>T (p.Ser17407Phe)
c.33836C>T (p.Ser11279Phe)
c.55331C>T (p.Ser18444Phe)
c.55328C>T (p.Ser18443Phe)
c.54761C>T (p.Ser18254Phe)
c.52103C>T (p.Ser17368Phe)
c.52022C>T (p.Ser17341Phe)
c.33785C>T (p.Ser11262Phe)
c.23639C>T (p.Ser7880Phe)
2g.178590835G>CCA349478723TTN,TTN-AS1c.53186C>G (p.Ser17729Cys)
c.34271C>G (p.Ser11424Cys)
c.34070C>G (p.Ser11357Cys)
c.33695C>G (p.Ser11232Cys)
c.60890C>G (p.Ser20297Cys)
c.55967C>G (p.Ser18656Cys)
n.597-6761G>C
n.3189-304G>C
c.59987C>G (p.Ser19996Cys)
c.33881C>G (p.Ser11294Cys)
c.33740C>G (p.Ser11247Cys)
c.59783C>G (p.Ser19928Cys)
c.55181C>G (p.Ser18394Cys)
c.55178C>G (p.Ser18393Cys)
c.52220C>G (p.Ser17407Cys)
c.33836C>G (p.Ser11279Cys)
c.55331C>G (p.Ser18444Cys)
c.55328C>G (p.Ser18443Cys)
c.54761C>G (p.Ser18254Cys)
c.52103C>G (p.Ser17368Cys)
c.52022C>G (p.Ser17341Cys)
c.33785C>G (p.Ser11262Cys)
c.23639C>G (p.Ser7880Cys)
2g.178590835G>TCA349478709TTN,TTN-AS1c.53186C>A (p.Ser17729Tyr)
c.34271C>A (p.Ser11424Tyr)
c.34070C>A (p.Ser11357Tyr)
c.33695C>A (p.Ser11232Tyr)
c.60890C>A (p.Ser20297Tyr)
c.55967C>A (p.Ser18656Tyr)
n.597-6761G>T
n.3189-304G>T
c.59987C>A (p.Ser19996Tyr)
c.33881C>A (p.Ser11294Tyr)
c.33740C>A (p.Ser11247Tyr)
c.59783C>A (p.Ser19928Tyr)
c.55181C>A (p.Ser18394Tyr)
c.55178C>A (p.Ser18393Tyr)
c.52220C>A (p.Ser17407Tyr)
c.33836C>A (p.Ser11279Tyr)
c.55331C>A (p.Ser18444Tyr)
c.55328C>A (p.Ser18443Tyr)
c.54761C>A (p.Ser18254Tyr)
c.52103C>A (p.Ser17368Tyr)
c.52022C>A (p.Ser17341Tyr)
c.33785C>A (p.Ser11262Tyr)
c.23639C>A (p.Ser7880Tyr)
2g.178590836A>CCA349478728TTN,TTN-AS1c.53185T>G (p.Ser17729Ala)
c.34270T>G (p.Ser11424Ala)
c.34069T>G (p.Ser11357Ala)
c.33694T>G (p.Ser11232Ala)
c.60889T>G (p.Ser20297Ala)
c.55966T>G (p.Ser18656Ala)
n.597-6760A>C
n.3189-303A>C
c.59986T>G (p.Ser19996Ala)
c.33880T>G (p.Ser11294Ala)
c.33739T>G (p.Ser11247Ala)
c.59782T>G (p.Ser19928Ala)
c.55180T>G (p.Ser18394Ala)
c.55177T>G (p.Ser18393Ala)
c.52219T>G (p.Ser17407Ala)
c.33835T>G (p.Ser11279Ala)
c.55330T>G (p.Ser18444Ala)
c.55327T>G (p.Ser18443Ala)
c.54760T>G (p.Ser18254Ala)
c.52102T>G (p.Ser17368Ala)
c.52021T>G (p.Ser17341Ala)
c.33784T>G (p.Ser11262Ala)
c.23638T>G (p.Ser7880Ala)
2g.178590836A>GCA349478733TTN,TTN-AS1c.53185T>C (p.Ser17729Pro)
c.34270T>C (p.Ser11424Pro)
c.34069T>C (p.Ser11357Pro)
c.33694T>C (p.Ser11232Pro)
c.60889T>C (p.Ser20297Pro)
c.55966T>C (p.Ser18656Pro)
n.597-6760A>G
n.3189-303A>G
c.59986T>C (p.Ser19996Pro)
c.33880T>C (p.Ser11294Pro)
c.33739T>C (p.Ser11247Pro)
c.59782T>C (p.Ser19928Pro)
c.55180T>C (p.Ser18394Pro)
c.55177T>C (p.Ser18393Pro)
c.52219T>C (p.Ser17407Pro)
c.33835T>C (p.Ser11279Pro)
c.55330T>C (p.Ser18444Pro)
c.55327T>C (p.Ser18443Pro)
c.54760T>C (p.Ser18254Pro)
c.52102T>C (p.Ser17368Pro)
c.52021T>C (p.Ser17341Pro)
c.33784T>C (p.Ser11262Pro)
c.23638T>C (p.Ser7880Pro)
2g.178590836A>TCA349478737TTN,TTN-AS1c.53185T>A (p.Ser17729Thr)
c.34270T>A (p.Ser11424Thr)
c.34069T>A (p.Ser11357Thr)
c.33694T>A (p.Ser11232Thr)
c.60889T>A (p.Ser20297Thr)
c.55966T>A (p.Ser18656Thr)
n.597-6760A>T
n.3189-303A>T
c.59986T>A (p.Ser19996Thr)
c.33880T>A (p.Ser11294Thr)
c.33739T>A (p.Ser11247Thr)
c.59782T>A (p.Ser19928Thr)
c.55180T>A (p.Ser18394Thr)
c.55177T>A (p.Ser18393Thr)
c.52219T>A (p.Ser17407Thr)
c.33835T>A (p.Ser11279Thr)
c.55330T>A (p.Ser18444Thr)
c.55327T>A (p.Ser18443Thr)
c.54760T>A (p.Ser18254Thr)
c.52102T>A (p.Ser17368Thr)
c.52021T>A (p.Ser17341Thr)
c.33784T>A (p.Ser11262Thr)
c.23638T>A (p.Ser7880Thr)
2g.178590837T>ACA349478746TTN,TTN-AS1c.53184A>T (p.Lys17728Asn)
c.34269A>T (p.Lys11423Asn)
c.34068A>T (p.Lys11356Asn)
c.33693A>T (p.Lys11231Asn)
c.60888A>T (p.Lys20296Asn)
c.55965A>T (p.Lys18655Asn)
n.597-6759T>A
n.3189-302T>A
c.59985A>T (p.Lys19995Asn)
c.33879A>T (p.Lys11293Asn)
c.33738A>T (p.Lys11246Asn)
c.59781A>T (p.Lys19927Asn)
c.55179A>T (p.Lys18393Asn)
c.55176A>T (p.Lys18392Asn)
c.52218A>T (p.Lys17406Asn)
c.33834A>T (p.Lys11278Asn)
c.55329A>T (p.Lys18443Asn)
c.55326A>T (p.Lys18442Asn)
c.54759A>T (p.Lys18253Asn)
c.52101A>T (p.Lys17367Asn)
c.52020A>T (p.Lys17340Asn)
c.33783A>T (p.Lys11261Asn)
c.23637A>T (p.Lys7879Asn)
2g.178590837T>CCA430266286TTN,TTN-AS1c.53184A>G (p.Lys17728=)
c.34269A>G (p.Lys11423=)
c.34068A>G (p.Lys11356=)
c.33693A>G (p.Lys11231=)
c.60888A>G (p.Lys20296=)
c.55965A>G (p.Lys18655=)
n.597-6759T>C
n.3189-302T>C
c.59985A>G (p.Lys19995=)
c.33879A>G (p.Lys11293=)
c.33738A>G (p.Lys11246=)
c.59781A>G (p.Lys19927=)
c.55179A>G (p.Lys18393=)
c.55176A>G (p.Lys18392=)
c.52218A>G (p.Lys17406=)
c.33834A>G (p.Lys11278=)
c.55329A>G (p.Lys18443=)
c.55326A>G (p.Lys18442=)
c.54759A>G (p.Lys18253=)
c.52101A>G (p.Lys17367=)
c.52020A>G (p.Lys17340=)
c.33783A>G (p.Lys11261=)
c.23637A>G (p.Lys7879=)
2g.178590837T>GCA349478748TTN,TTN-AS1c.53184A>C (p.Lys17728Asn)
c.34269A>C (p.Lys11423Asn)
c.34068A>C (p.Lys11356Asn)
c.33693A>C (p.Lys11231Asn)
c.60888A>C (p.Lys20296Asn)
c.55965A>C (p.Lys18655Asn)
n.597-6759T>G
n.3189-302T>G
c.59985A>C (p.Lys19995Asn)
c.33879A>C (p.Lys11293Asn)
c.33738A>C (p.Lys11246Asn)
c.59781A>C (p.Lys19927Asn)
c.55179A>C (p.Lys18393Asn)
c.55176A>C (p.Lys18392Asn)
c.52218A>C (p.Lys17406Asn)
c.33834A>C (p.Lys11278Asn)
c.55329A>C (p.Lys18443Asn)
c.55326A>C (p.Lys18442Asn)
c.54759A>C (p.Lys18253Asn)
c.52101A>C (p.Lys17367Asn)
c.52020A>C (p.Lys17340Asn)
c.33783A>C (p.Lys11261Asn)
c.23637A>C (p.Lys7879Asn)
2g.178590838T>ACA349478753TTN,TTN-AS1c.53183A>T (p.Lys17728Ile)
c.34268A>T (p.Lys11423Ile)
c.34067A>T (p.Lys11356Ile)
c.33692A>T (p.Lys11231Ile)
c.60887A>T (p.Lys20296Ile)
c.55964A>T (p.Lys18655Ile)
n.597-6758T>A
n.3189-301T>A
c.59984A>T (p.Lys19995Ile)
c.33878A>T (p.Lys11293Ile)
c.33737A>T (p.Lys11246Ile)
c.59780A>T (p.Lys19927Ile)
c.55178A>T (p.Lys18393Ile)
c.55175A>T (p.Lys18392Ile)
c.52217A>T (p.Lys17406Ile)
c.33833A>T (p.Lys11278Ile)
c.55328A>T (p.Lys18443Ile)
c.55325A>T (p.Lys18442Ile)
c.54758A>T (p.Lys18253Ile)
c.52100A>T (p.Lys17367Ile)
c.52019A>T (p.Lys17340Ile)
c.33782A>T (p.Lys11261Ile)
c.23636A>T (p.Lys7879Ile)
2g.178590838T>CCA349478773TTN,TTN-AS1c.53183A>G (p.Lys17728Arg)
c.34268A>G (p.Lys11423Arg)
c.34067A>G (p.Lys11356Arg)
c.33692A>G (p.Lys11231Arg)
c.60887A>G (p.Lys20296Arg)
c.55964A>G (p.Lys18655Arg)
n.597-6758T>C
n.3189-301T>C
c.59984A>G (p.Lys19995Arg)
c.33878A>G (p.Lys11293Arg)
c.33737A>G (p.Lys11246Arg)
c.59780A>G (p.Lys19927Arg)
c.55178A>G (p.Lys18393Arg)
c.55175A>G (p.Lys18392Arg)
c.52217A>G (p.Lys17406Arg)
c.33833A>G (p.Lys11278Arg)
c.55328A>G (p.Lys18443Arg)
c.55325A>G (p.Lys18442Arg)
c.54758A>G (p.Lys18253Arg)
c.52100A>G (p.Lys17367Arg)
c.52019A>G (p.Lys17340Arg)
c.33782A>G (p.Lys11261Arg)
c.23636A>G (p.Lys7879Arg)
2g.178590838T>GCA349478776TTN,TTN-AS1c.53183A>C (p.Lys17728Thr)
c.34268A>C (p.Lys11423Thr)
c.34067A>C (p.Lys11356Thr)
c.33692A>C (p.Lys11231Thr)
c.60887A>C (p.Lys20296Thr)
c.55964A>C (p.Lys18655Thr)
n.597-6758T>G
n.3189-301T>G
c.59984A>C (p.Lys19995Thr)
c.33878A>C (p.Lys11293Thr)
c.33737A>C (p.Lys11246Thr)
c.59780A>C (p.Lys19927Thr)
c.55178A>C (p.Lys18393Thr)
c.55175A>C (p.Lys18392Thr)
c.52217A>C (p.Lys17406Thr)
c.33833A>C (p.Lys11278Thr)
c.55328A>C (p.Lys18443Thr)
c.55325A>C (p.Lys18442Thr)
c.54758A>C (p.Lys18253Thr)
c.52100A>C (p.Lys17367Thr)
c.52019A>C (p.Lys17340Thr)
c.33782A>C (p.Lys11261Thr)
c.23636A>C (p.Lys7879Thr)
2g.178590839T>ACA349478782TTN,TTN-AS1c.53182A>T (p.Lys17728Ter)
c.34267A>T (p.Lys11423Ter)
c.34066A>T (p.Lys11356Ter)
c.33691A>T (p.Lys11231Ter)
c.60886A>T (p.Lys20296Ter)
c.55963A>T (p.Lys18655Ter)
n.597-6757T>A
n.3189-300T>A
c.59983A>T (p.Lys19995Ter)
c.33877A>T (p.Lys11293Ter)
c.33736A>T (p.Lys11246Ter)
c.59779A>T (p.Lys19927Ter)
c.55177A>T (p.Lys18393Ter)
c.55174A>T (p.Lys18392Ter)
c.52216A>T (p.Lys17406Ter)
c.33832A>T (p.Lys11278Ter)
c.55327A>T (p.Lys18443Ter)
c.55324A>T (p.Lys18442Ter)
c.54757A>T (p.Lys18253Ter)
c.52099A>T (p.Lys17367Ter)
c.52018A>T (p.Lys17340Ter)
c.33781A>T (p.Lys11261Ter)
c.23635A>T (p.Lys7879Ter)
2g.178590839T>CCA349478785TTN,TTN-AS1c.53182A>G (p.Lys17728Glu)
c.34267A>G (p.Lys11423Glu)
c.34066A>G (p.Lys11356Glu)
c.33691A>G (p.Lys11231Glu)
c.60886A>G (p.Lys20296Glu)
c.55963A>G (p.Lys18655Glu)
n.597-6757T>C
n.3189-300T>C
c.59983A>G (p.Lys19995Glu)
c.33877A>G (p.Lys11293Glu)
c.33736A>G (p.Lys11246Glu)
c.59779A>G (p.Lys19927Glu)
c.55177A>G (p.Lys18393Glu)
c.55174A>G (p.Lys18392Glu)
c.52216A>G (p.Lys17406Glu)
c.33832A>G (p.Lys11278Glu)
c.55327A>G (p.Lys18443Glu)
c.55324A>G (p.Lys18442Glu)
c.54757A>G (p.Lys18253Glu)
c.52099A>G (p.Lys17367Glu)
c.52018A>G (p.Lys17340Glu)
c.33781A>G (p.Lys11261Glu)
c.23635A>G (p.Lys7879Glu)
2g.178590839T>GCA1992434TTN,TTN-AS1c.53182A>C (p.Lys17728Gln)
c.34267A>C (p.Lys11423Gln)
c.34066A>C (p.Lys11356Gln)
c.33691A>C (p.Lys11231Gln)
c.60886A>C (p.Lys20296Gln)
c.55963A>C (p.Lys18655Gln)
n.597-6757T>G
n.3189-300T>G
c.59983A>C (p.Lys19995Gln)
c.33877A>C (p.Lys11293Gln)
c.33736A>C (p.Lys11246Gln)
c.59779A>C (p.Lys19927Gln)
c.55177A>C (p.Lys18393Gln)
c.55174A>C (p.Lys18392Gln)
c.52216A>C (p.Lys17406Gln)
c.33832A>C (p.Lys11278Gln)
c.55327A>C (p.Lys18443Gln)
c.55324A>C (p.Lys18442Gln)
c.54757A>C (p.Lys18253Gln)
c.52099A>C (p.Lys17367Gln)
c.52018A>C (p.Lys17340Gln)
c.33781A>C (p.Lys11261Gln)
c.23635A>C (p.Lys7879Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590839T=CA1310539541TTN,TTN-AS1c.53182A= (p.Lys17728=)
c.34267A= (p.Lys11423=)
c.34066A= (p.Lys11356=)
c.33691A= (p.Lys11231=)
c.60886A= (p.Lys20296=)
c.55963A= (p.Lys18655=)
n.597-6757T=
n.3189-300T=
c.59983A= (p.Lys19995=)
c.33877A= (p.Lys11293=)
c.33736A= (p.Lys11246=)
c.59779A= (p.Lys19927=)
c.55177A= (p.Lys18393=)
c.55174A= (p.Lys18392=)
c.52216A= (p.Lys17406=)
c.33832A= (p.Lys11278=)
c.55327A= (p.Lys18443=)
c.55324A= (p.Lys18442=)
c.54757A= (p.Lys18253=)
c.52099A= (p.Lys17367=)
c.52018A= (p.Lys17340=)
c.33781A= (p.Lys11261=)
c.23635A= (p.Lys7879=)

Number of alleles fetched