Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178570938T>ACA349628103TTN,TTN-AS1c.67490A>T (p.His22497Leu)
c.48575A>T (p.His16192Leu)
c.48374A>T (p.His16125Leu)
c.47999A>T (p.His16000Leu)
c.75194A>T (p.His25065Leu)
c.70271A>T (p.His23424Leu)
n.447-362T>A
n.2044-11634T>A
c.74291A>T (p.His24764Leu)
c.48185A>T (p.His16062Leu)
c.48044A>T (p.His16015Leu)
c.74087A>T (p.His24696Leu)
c.69485A>T (p.His23162Leu)
c.69482A>T (p.His23161Leu)
c.66524A>T (p.His22175Leu)
c.48140A>T (p.His16047Leu)
c.69635A>T (p.His23212Leu)
c.69632A>T (p.His23211Leu)
c.69065A>T (p.His23022Leu)
c.66407A>T (p.His22136Leu)
c.66326A>T (p.His22109Leu)
c.48089A>T (p.His16030Leu)
c.37943A>T (p.His12648Leu)
2g.178570938T>CCA1990089TTN,TTN-AS1c.67490A>G (p.His22497Arg)
c.48575A>G (p.His16192Arg)
c.48374A>G (p.His16125Arg)
c.47999A>G (p.His16000Arg)
c.75194A>G (p.His25065Arg)
c.70271A>G (p.His23424Arg)
n.447-362T>C
n.2044-11634T>C
c.74291A>G (p.His24764Arg)
c.48185A>G (p.His16062Arg)
c.48044A>G (p.His16015Arg)
c.74087A>G (p.His24696Arg)
c.69485A>G (p.His23162Arg)
c.69482A>G (p.His23161Arg)
c.66524A>G (p.His22175Arg)
c.48140A>G (p.His16047Arg)
c.69635A>G (p.His23212Arg)
c.69632A>G (p.His23211Arg)
c.69065A>G (p.His23022Arg)
c.66407A>G (p.His22136Arg)
c.66326A>G (p.His22109Arg)
c.48089A>G (p.His16030Arg)
c.37943A>G (p.His12648Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570938T>GCA349628100TTN,TTN-AS1c.67490A>C (p.His22497Pro)
c.48575A>C (p.His16192Pro)
c.48374A>C (p.His16125Pro)
c.47999A>C (p.His16000Pro)
c.75194A>C (p.His25065Pro)
c.70271A>C (p.His23424Pro)
n.447-362T>G
n.2044-11634T>G
c.74291A>C (p.His24764Pro)
c.48185A>C (p.His16062Pro)
c.48044A>C (p.His16015Pro)
c.74087A>C (p.His24696Pro)
c.69485A>C (p.His23162Pro)
c.69482A>C (p.His23161Pro)
c.66524A>C (p.His22175Pro)
c.48140A>C (p.His16047Pro)
c.69635A>C (p.His23212Pro)
c.69632A>C (p.His23211Pro)
c.69065A>C (p.His23022Pro)
c.66407A>C (p.His22136Pro)
c.66326A>C (p.His22109Pro)
c.48089A>C (p.His16030Pro)
c.37943A>C (p.His12648Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178570938T=CA1310531317TTN,TTN-AS1c.67490A= (p.His22497=)
c.48575A= (p.His16192=)
c.48374A= (p.His16125=)
c.47999A= (p.His16000=)
c.75194A= (p.His25065=)
c.70271A= (p.His23424=)
n.447-362T=
n.2044-11634T=
c.74291A= (p.His24764=)
c.48185A= (p.His16062=)
c.48044A= (p.His16015=)
c.74087A= (p.His24696=)
c.69485A= (p.His23162=)
c.69482A= (p.His23161=)
c.66524A= (p.His22175=)
c.48140A= (p.His16047=)
c.69635A= (p.His23212=)
c.69632A= (p.His23211=)
c.69065A= (p.His23022=)
c.66407A= (p.His22136=)
c.66326A= (p.His22109=)
c.48089A= (p.His16030=)
c.37943A= (p.His12648=)
2g.178570938_178570939delinsGTCA2573051776TTN,TTN-AS1c.67489_67490delinsAC (p.His22497Thr)
c.48574_48575delinsAC (p.His16192Thr)
c.48373_48374delinsAC (p.His16125Thr)
c.47998_47999delinsAC (p.His16000Thr)
c.75193_75194delinsAC (p.His25065Thr)
c.70270_70271delinsAC (p.His23424Thr)
n.447-362_447-361delinsGT
n.2044-11634_2044-11633delinsGT
c.74290_74291delinsAC (p.His24764Thr)
c.48184_48185delinsAC (p.His16062Thr)
c.48043_48044delinsAC (p.His16015Thr)
c.74086_74087delinsAC (p.His24696Thr)
c.69484_69485delinsAC (p.His23162Thr)
c.69481_69482delinsAC (p.His23161Thr)
c.66523_66524delinsAC (p.His22175Thr)
c.48139_48140delinsAC (p.His16047Thr)
c.69634_69635delinsAC (p.His23212Thr)
c.69631_69632delinsAC (p.His23211Thr)
c.69064_69065delinsAC (p.His23022Thr)
c.66406_66407delinsAC (p.His22136Thr)
c.66325_66326delinsAC (p.His22109Thr)
c.48088_48089delinsAC (p.His16030Thr)
c.37942_37943delinsAC (p.His12648Thr)
 ClinVar dbSNP
2g.178570939G>ACA349628117TTN,TTN-AS1c.67489C>T (p.His22497Tyr)
c.48574C>T (p.His16192Tyr)
c.48373C>T (p.His16125Tyr)
c.47998C>T (p.His16000Tyr)
c.75193C>T (p.His25065Tyr)
c.70270C>T (p.His23424Tyr)
n.447-361G>A
n.2044-11633G>A
c.74290C>T (p.His24764Tyr)
c.48184C>T (p.His16062Tyr)
c.48043C>T (p.His16015Tyr)
c.74086C>T (p.His24696Tyr)
c.69484C>T (p.His23162Tyr)
c.69481C>T (p.His23161Tyr)
c.66523C>T (p.His22175Tyr)
c.48139C>T (p.His16047Tyr)
c.69634C>T (p.His23212Tyr)
c.69631C>T (p.His23211Tyr)
c.69064C>T (p.His23022Tyr)
c.66406C>T (p.His22136Tyr)
c.66325C>T (p.His22109Tyr)
c.48088C>T (p.His16030Tyr)
c.37942C>T (p.His12648Tyr)
2g.178570939G>CCA349628119TTN,TTN-AS1c.67489C>G (p.His22497Asp)
c.48574C>G (p.His16192Asp)
c.48373C>G (p.His16125Asp)
c.47998C>G (p.His16000Asp)
c.75193C>G (p.His25065Asp)
c.70270C>G (p.His23424Asp)
n.447-361G>C
n.2044-11633G>C
c.74290C>G (p.His24764Asp)
c.48184C>G (p.His16062Asp)
c.48043C>G (p.His16015Asp)
c.74086C>G (p.His24696Asp)
c.69484C>G (p.His23162Asp)
c.69481C>G (p.His23161Asp)
c.66523C>G (p.His22175Asp)
c.48139C>G (p.His16047Asp)
c.69634C>G (p.His23212Asp)
c.69631C>G (p.His23211Asp)
c.69064C>G (p.His23022Asp)
c.66406C>G (p.His22136Asp)
c.66325C>G (p.His22109Asp)
c.48088C>G (p.His16030Asp)
c.37942C>G (p.His12648Asp)
2g.178570939G=CA1310531318TTN,TTN-AS1c.67489C= (p.His22497=)
c.48574C= (p.His16192=)
c.48373C= (p.His16125=)
c.47998C= (p.His16000=)
c.75193C= (p.His25065=)
c.70270C= (p.His23424=)
n.447-361G=
n.2044-11633G=
c.74290C= (p.His24764=)
c.48184C= (p.His16062=)
c.48043C= (p.His16015=)
c.74086C= (p.His24696=)
c.69484C= (p.His23162=)
c.69481C= (p.His23161=)
c.66523C= (p.His22175=)
c.48139C= (p.His16047=)
c.69634C= (p.His23212=)
c.69631C= (p.His23211=)
c.69064C= (p.His23022=)
c.66406C= (p.His22136=)
c.66325C= (p.His22109=)
c.48088C= (p.His16030=)
c.37942C= (p.His12648=)
2g.178570939G>TCA349628123TTN,TTN-AS1c.67489C>A (p.His22497Asn)
c.48574C>A (p.His16192Asn)
c.48373C>A (p.His16125Asn)
c.47998C>A (p.His16000Asn)
c.75193C>A (p.His25065Asn)
c.70270C>A (p.His23424Asn)
n.447-361G>T
n.2044-11633G>T
c.74290C>A (p.His24764Asn)
c.48184C>A (p.His16062Asn)
c.48043C>A (p.His16015Asn)
c.74086C>A (p.His24696Asn)
c.69484C>A (p.His23162Asn)
c.69481C>A (p.His23161Asn)
c.66523C>A (p.His22175Asn)
c.48139C>A (p.His16047Asn)
c.69634C>A (p.His23212Asn)
c.69631C>A (p.His23211Asn)
c.69064C>A (p.His23022Asn)
c.66406C>A (p.His22136Asn)
c.66325C>A (p.His22109Asn)
c.48088C>A (p.His16030Asn)
c.37942C>A (p.His12648Asn)
 dbSNP gnomAD v2
2g.178570940A=CA1310531319TTN,TTN-AS1c.67488T= (p.Thr22496=)
c.48573T= (p.Thr16191=)
c.48372T= (p.Thr16124=)
c.47997T= (p.Thr15999=)
c.75192T= (p.Thr25064=)
c.70269T= (p.Thr23423=)
n.447-360A=
n.2044-11632A=
c.74289T= (p.Thr24763=)
c.48183T= (p.Thr16061=)
c.48042T= (p.Thr16014=)
c.74085T= (p.Thr24695=)
c.69483T= (p.Thr23161=)
c.69480T= (p.Thr23160=)
c.66522T= (p.Thr22174=)
c.48138T= (p.Thr16046=)
c.69633T= (p.Thr23211=)
c.69630T= (p.Thr23210=)
c.69063T= (p.Thr23021=)
c.66405T= (p.Thr22135=)
c.66324T= (p.Thr22108=)
c.48087T= (p.Thr16029=)
c.37941T= (p.Thr12647=)
2g.178570940A>CCA430255154TTN,TTN-AS1c.67488T>G (p.Thr22496=)
c.48573T>G (p.Thr16191=)
c.48372T>G (p.Thr16124=)
c.47997T>G (p.Thr15999=)
c.75192T>G (p.Thr25064=)
c.70269T>G (p.Thr23423=)
n.447-360A>C
n.2044-11632A>C
c.74289T>G (p.Thr24763=)
c.48183T>G (p.Thr16061=)
c.48042T>G (p.Thr16014=)
c.74085T>G (p.Thr24695=)
c.69483T>G (p.Thr23161=)
c.69480T>G (p.Thr23160=)
c.66522T>G (p.Thr22174=)
c.48138T>G (p.Thr16046=)
c.69633T>G (p.Thr23211=)
c.69630T>G (p.Thr23210=)
c.69063T>G (p.Thr23021=)
c.66405T>G (p.Thr22135=)
c.66324T>G (p.Thr22108=)
c.48087T>G (p.Thr16029=)
c.37941T>G (p.Thr12647=)
2g.178570940A>GCA1990090TTN,TTN-AS1c.67488T>C (p.Thr22496=)
c.48573T>C (p.Thr16191=)
c.48372T>C (p.Thr16124=)
c.47997T>C (p.Thr15999=)
c.75192T>C (p.Thr25064=)
c.70269T>C (p.Thr23423=)
n.447-360A>G
n.2044-11632A>G
c.74289T>C (p.Thr24763=)
c.48183T>C (p.Thr16061=)
c.48042T>C (p.Thr16014=)
c.74085T>C (p.Thr24695=)
c.69483T>C (p.Thr23161=)
c.69480T>C (p.Thr23160=)
c.66522T>C (p.Thr22174=)
c.48138T>C (p.Thr16046=)
c.69633T>C (p.Thr23211=)
c.69630T>C (p.Thr23210=)
c.69063T>C (p.Thr23021=)
c.66405T>C (p.Thr22135=)
c.66324T>C (p.Thr22108=)
c.48087T>C (p.Thr16029=)
c.37941T>C (p.Thr12647=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570940A>TCA430255157TTN,TTN-AS1c.67488T>A (p.Thr22496=)
c.48573T>A (p.Thr16191=)
c.48372T>A (p.Thr16124=)
c.47997T>A (p.Thr15999=)
c.75192T>A (p.Thr25064=)
c.70269T>A (p.Thr23423=)
n.447-360A>T
n.2044-11632A>T
c.74289T>A (p.Thr24763=)
c.48183T>A (p.Thr16061=)
c.48042T>A (p.Thr16014=)
c.74085T>A (p.Thr24695=)
c.69483T>A (p.Thr23161=)
c.69480T>A (p.Thr23160=)
c.66522T>A (p.Thr22174=)
c.48138T>A (p.Thr16046=)
c.69633T>A (p.Thr23211=)
c.69630T>A (p.Thr23210=)
c.69063T>A (p.Thr23021=)
c.66405T>A (p.Thr22135=)
c.66324T>A (p.Thr22108=)
c.48087T>A (p.Thr16029=)
c.37941T>A (p.Thr12647=)
 ClinVar dbSNP
2g.178570941G>ACA349628133TTN,TTN-AS1c.67487C>T (p.Thr22496Ile)
c.48572C>T (p.Thr16191Ile)
c.48371C>T (p.Thr16124Ile)
c.47996C>T (p.Thr15999Ile)
c.75191C>T (p.Thr25064Ile)
c.70268C>T (p.Thr23423Ile)
n.447-359G>A
n.2044-11631G>A
c.74288C>T (p.Thr24763Ile)
c.48182C>T (p.Thr16061Ile)
c.48041C>T (p.Thr16014Ile)
c.74084C>T (p.Thr24695Ile)
c.69482C>T (p.Thr23161Ile)
c.69479C>T (p.Thr23160Ile)
c.66521C>T (p.Thr22174Ile)
c.48137C>T (p.Thr16046Ile)
c.69632C>T (p.Thr23211Ile)
c.69629C>T (p.Thr23210Ile)
c.69062C>T (p.Thr23021Ile)
c.66404C>T (p.Thr22135Ile)
c.66323C>T (p.Thr22108Ile)
c.48086C>T (p.Thr16029Ile)
c.37940C>T (p.Thr12647Ile)
2g.178570941G>CCA349628134TTN,TTN-AS1c.67487C>G (p.Thr22496Ser)
c.48572C>G (p.Thr16191Ser)
c.48371C>G (p.Thr16124Ser)
c.47996C>G (p.Thr15999Ser)
c.75191C>G (p.Thr25064Ser)
c.70268C>G (p.Thr23423Ser)
n.447-359G>C
n.2044-11631G>C
c.74288C>G (p.Thr24763Ser)
c.48182C>G (p.Thr16061Ser)
c.48041C>G (p.Thr16014Ser)
c.74084C>G (p.Thr24695Ser)
c.69482C>G (p.Thr23161Ser)
c.69479C>G (p.Thr23160Ser)
c.66521C>G (p.Thr22174Ser)
c.48137C>G (p.Thr16046Ser)
c.69632C>G (p.Thr23211Ser)
c.69629C>G (p.Thr23210Ser)
c.69062C>G (p.Thr23021Ser)
c.66404C>G (p.Thr22135Ser)
c.66323C>G (p.Thr22108Ser)
c.48086C>G (p.Thr16029Ser)
c.37940C>G (p.Thr12647Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178570941G>TCA349628140TTN,TTN-AS1c.67487C>A (p.Thr22496Asn)
c.48572C>A (p.Thr16191Asn)
c.48371C>A (p.Thr16124Asn)
c.47996C>A (p.Thr15999Asn)
c.75191C>A (p.Thr25064Asn)
c.70268C>A (p.Thr23423Asn)
n.447-359G>T
n.2044-11631G>T
c.74288C>A (p.Thr24763Asn)
c.48182C>A (p.Thr16061Asn)
c.48041C>A (p.Thr16014Asn)
c.74084C>A (p.Thr24695Asn)
c.69482C>A (p.Thr23161Asn)
c.69479C>A (p.Thr23160Asn)
c.66521C>A (p.Thr22174Asn)
c.48137C>A (p.Thr16046Asn)
c.69632C>A (p.Thr23211Asn)
c.69629C>A (p.Thr23210Asn)
c.69062C>A (p.Thr23021Asn)
c.66404C>A (p.Thr22135Asn)
c.66323C>A (p.Thr22108Asn)
c.48086C>A (p.Thr16029Asn)
c.37940C>A (p.Thr12647Asn)
2g.178570942T>ACA349628145TTN,TTN-AS1c.67486A>T (p.Thr22496Ser)
c.48571A>T (p.Thr16191Ser)
c.48370A>T (p.Thr16124Ser)
c.47995A>T (p.Thr15999Ser)
c.75190A>T (p.Thr25064Ser)
c.70267A>T (p.Thr23423Ser)
n.447-358T>A
n.2044-11630T>A
c.74287A>T (p.Thr24763Ser)
c.48181A>T (p.Thr16061Ser)
c.48040A>T (p.Thr16014Ser)
c.74083A>T (p.Thr24695Ser)
c.69481A>T (p.Thr23161Ser)
c.69478A>T (p.Thr23160Ser)
c.66520A>T (p.Thr22174Ser)
c.48136A>T (p.Thr16046Ser)
c.69631A>T (p.Thr23211Ser)
c.69628A>T (p.Thr23210Ser)
c.69061A>T (p.Thr23021Ser)
c.66403A>T (p.Thr22135Ser)
c.66322A>T (p.Thr22108Ser)
c.48085A>T (p.Thr16029Ser)
c.37939A>T (p.Thr12647Ser)
2g.178570942T>CCA60996323TTN,TTN-AS1c.67486A>G (p.Thr22496Ala)
c.48571A>G (p.Thr16191Ala)
c.48370A>G (p.Thr16124Ala)
c.47995A>G (p.Thr15999Ala)
c.75190A>G (p.Thr25064Ala)
c.70267A>G (p.Thr23423Ala)
n.447-358T>C
n.2044-11630T>C
c.74287A>G (p.Thr24763Ala)
c.48181A>G (p.Thr16061Ala)
c.48040A>G (p.Thr16014Ala)
c.74083A>G (p.Thr24695Ala)
c.69481A>G (p.Thr23161Ala)
c.69478A>G (p.Thr23160Ala)
c.66520A>G (p.Thr22174Ala)
c.48136A>G (p.Thr16046Ala)
c.69631A>G (p.Thr23211Ala)
c.69628A>G (p.Thr23210Ala)
c.69061A>G (p.Thr23021Ala)
c.66403A>G (p.Thr22135Ala)
c.66322A>G (p.Thr22108Ala)
c.48085A>G (p.Thr16029Ala)
c.37939A>G (p.Thr12647Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178570942T>GCA349628151TTN,TTN-AS1c.67486A>C (p.Thr22496Pro)
c.48571A>C (p.Thr16191Pro)
c.48370A>C (p.Thr16124Pro)
c.47995A>C (p.Thr15999Pro)
c.75190A>C (p.Thr25064Pro)
c.70267A>C (p.Thr23423Pro)
n.447-358T>G
n.2044-11630T>G
c.74287A>C (p.Thr24763Pro)
c.48181A>C (p.Thr16061Pro)
c.48040A>C (p.Thr16014Pro)
c.74083A>C (p.Thr24695Pro)
c.69481A>C (p.Thr23161Pro)
c.69478A>C (p.Thr23160Pro)
c.66520A>C (p.Thr22174Pro)
c.48136A>C (p.Thr16046Pro)
c.69631A>C (p.Thr23211Pro)
c.69628A>C (p.Thr23210Pro)
c.69061A>C (p.Thr23021Pro)
c.66403A>C (p.Thr22135Pro)
c.66322A>C (p.Thr22108Pro)
c.48085A>C (p.Thr16029Pro)
c.37939A>C (p.Thr12647Pro)
 gnomAD v4
2g.178570942T=CA1310531320TTN,TTN-AS1c.67486A= (p.Thr22496=)
c.48571A= (p.Thr16191=)
c.48370A= (p.Thr16124=)
c.47995A= (p.Thr15999=)
c.75190A= (p.Thr25064=)
c.70267A= (p.Thr23423=)
n.447-358T=
n.2044-11630T=
c.74287A= (p.Thr24763=)
c.48181A= (p.Thr16061=)
c.48040A= (p.Thr16014=)
c.74083A= (p.Thr24695=)
c.69481A= (p.Thr23161=)
c.69478A= (p.Thr23160=)
c.66520A= (p.Thr22174=)
c.48136A= (p.Thr16046=)
c.69631A= (p.Thr23211=)
c.69628A= (p.Thr23210=)
c.69061A= (p.Thr23021=)
c.66403A= (p.Thr22135=)
c.66322A= (p.Thr22108=)
c.48085A= (p.Thr16029=)
c.37939A= (p.Thr12647=)
2g.178570943G>ACA430255164TTN,TTN-AS1c.67485C>T (p.Asp22495=)
c.48570C>T (p.Asp16190=)
c.48369C>T (p.Asp16123=)
c.47994C>T (p.Asp15998=)
c.75189C>T (p.Asp25063=)
c.70266C>T (p.Asp23422=)
n.447-357G>A
n.2044-11629G>A
c.74286C>T (p.Asp24762=)
c.48180C>T (p.Asp16060=)
c.48039C>T (p.Asp16013=)
c.74082C>T (p.Asp24694=)
c.69480C>T (p.Asp23160=)
c.69477C>T (p.Asp23159=)
c.66519C>T (p.Asp22173=)
c.48135C>T (p.Asp16045=)
c.69630C>T (p.Asp23210=)
c.69627C>T (p.Asp23209=)
c.69060C>T (p.Asp23020=)
c.66402C>T (p.Asp22134=)
c.66321C>T (p.Asp22107=)
c.48084C>T (p.Asp16028=)
c.37938C>T (p.Asp12646=)
 dbSNP gnomAD v4
2g.178570943G>CCA349628157TTN,TTN-AS1c.67485C>G (p.Asp22495Glu)
c.48570C>G (p.Asp16190Glu)
c.48369C>G (p.Asp16123Glu)
c.47994C>G (p.Asp15998Glu)
c.75189C>G (p.Asp25063Glu)
c.70266C>G (p.Asp23422Glu)
n.447-357G>C
n.2044-11629G>C
c.74286C>G (p.Asp24762Glu)
c.48180C>G (p.Asp16060Glu)
c.48039C>G (p.Asp16013Glu)
c.74082C>G (p.Asp24694Glu)
c.69480C>G (p.Asp23160Glu)
c.69477C>G (p.Asp23159Glu)
c.66519C>G (p.Asp22173Glu)
c.48135C>G (p.Asp16045Glu)
c.69630C>G (p.Asp23210Glu)
c.69627C>G (p.Asp23209Glu)
c.69060C>G (p.Asp23020Glu)
c.66402C>G (p.Asp22134Glu)
c.66321C>G (p.Asp22107Glu)
c.48084C>G (p.Asp16028Glu)
c.37938C>G (p.Asp12646Glu)
2g.178570943G>TCA349628177TTN,TTN-AS1c.67485C>A (p.Asp22495Glu)
c.48570C>A (p.Asp16190Glu)
c.48369C>A (p.Asp16123Glu)
c.47994C>A (p.Asp15998Glu)
c.75189C>A (p.Asp25063Glu)
c.70266C>A (p.Asp23422Glu)
n.447-357G>T
n.2044-11629G>T
c.74286C>A (p.Asp24762Glu)
c.48180C>A (p.Asp16060Glu)
c.48039C>A (p.Asp16013Glu)
c.74082C>A (p.Asp24694Glu)
c.69480C>A (p.Asp23160Glu)
c.69477C>A (p.Asp23159Glu)
c.66519C>A (p.Asp22173Glu)
c.48135C>A (p.Asp16045Glu)
c.69630C>A (p.Asp23210Glu)
c.69627C>A (p.Asp23209Glu)
c.69060C>A (p.Asp23020Glu)
c.66402C>A (p.Asp22134Glu)
c.66321C>A (p.Asp22107Glu)
c.48084C>A (p.Asp16028Glu)
c.37938C>A (p.Asp12646Glu)
2g.178570944T>ACA349628185TTN,TTN-AS1c.67484A>T (p.Asp22495Val)
c.48569A>T (p.Asp16190Val)
c.48368A>T (p.Asp16123Val)
c.47993A>T (p.Asp15998Val)
c.75188A>T (p.Asp25063Val)
c.70265A>T (p.Asp23422Val)
n.447-356T>A
n.2044-11628T>A
c.74285A>T (p.Asp24762Val)
c.48179A>T (p.Asp16060Val)
c.48038A>T (p.Asp16013Val)
c.74081A>T (p.Asp24694Val)
c.69479A>T (p.Asp23160Val)
c.69476A>T (p.Asp23159Val)
c.66518A>T (p.Asp22173Val)
c.48134A>T (p.Asp16045Val)
c.69629A>T (p.Asp23210Val)
c.69626A>T (p.Asp23209Val)
c.69059A>T (p.Asp23020Val)
c.66401A>T (p.Asp22134Val)
c.66320A>T (p.Asp22107Val)
c.48083A>T (p.Asp16028Val)
c.37937A>T (p.Asp12646Val)
2g.178570944T>CCA349628181TTN,TTN-AS1c.67484A>G (p.Asp22495Gly)
c.48569A>G (p.Asp16190Gly)
c.48368A>G (p.Asp16123Gly)
c.47993A>G (p.Asp15998Gly)
c.75188A>G (p.Asp25063Gly)
c.70265A>G (p.Asp23422Gly)
n.447-356T>C
n.2044-11628T>C
c.74285A>G (p.Asp24762Gly)
c.48179A>G (p.Asp16060Gly)
c.48038A>G (p.Asp16013Gly)
c.74081A>G (p.Asp24694Gly)
c.69479A>G (p.Asp23160Gly)
c.69476A>G (p.Asp23159Gly)
c.66518A>G (p.Asp22173Gly)
c.48134A>G (p.Asp16045Gly)
c.69629A>G (p.Asp23210Gly)
c.69626A>G (p.Asp23209Gly)
c.69059A>G (p.Asp23020Gly)
c.66401A>G (p.Asp22134Gly)
c.66320A>G (p.Asp22107Gly)
c.48083A>G (p.Asp16028Gly)
c.37937A>G (p.Asp12646Gly)
2g.178570944T>GCA349628184TTN,TTN-AS1c.67484A>C (p.Asp22495Ala)
c.48569A>C (p.Asp16190Ala)
c.48368A>C (p.Asp16123Ala)
c.47993A>C (p.Asp15998Ala)
c.75188A>C (p.Asp25063Ala)
c.70265A>C (p.Asp23422Ala)
n.447-356T>G
n.2044-11628T>G
c.74285A>C (p.Asp24762Ala)
c.48179A>C (p.Asp16060Ala)
c.48038A>C (p.Asp16013Ala)
c.74081A>C (p.Asp24694Ala)
c.69479A>C (p.Asp23160Ala)
c.69476A>C (p.Asp23159Ala)
c.66518A>C (p.Asp22173Ala)
c.48134A>C (p.Asp16045Ala)
c.69629A>C (p.Asp23210Ala)
c.69626A>C (p.Asp23209Ala)
c.69059A>C (p.Asp23020Ala)
c.66401A>C (p.Asp22134Ala)
c.66320A>C (p.Asp22107Ala)
c.48083A>C (p.Asp16028Ala)
c.37937A>C (p.Asp12646Ala)
2g.178570945C>ACA349628186TTN,TTN-AS1c.67483G>T (p.Asp22495Tyr)
c.48568G>T (p.Asp16190Tyr)
c.48367G>T (p.Asp16123Tyr)
c.47992G>T (p.Asp15998Tyr)
c.75187G>T (p.Asp25063Tyr)
c.70264G>T (p.Asp23422Tyr)
n.447-355C>A
n.2044-11627C>A
c.74284G>T (p.Asp24762Tyr)
c.48178G>T (p.Asp16060Tyr)
c.48037G>T (p.Asp16013Tyr)
c.74080G>T (p.Asp24694Tyr)
c.69478G>T (p.Asp23160Tyr)
c.69475G>T (p.Asp23159Tyr)
c.66517G>T (p.Asp22173Tyr)
c.48133G>T (p.Asp16045Tyr)
c.69628G>T (p.Asp23210Tyr)
c.69625G>T (p.Asp23209Tyr)
c.69058G>T (p.Asp23020Tyr)
c.66400G>T (p.Asp22134Tyr)
c.66319G>T (p.Asp22107Tyr)
c.48082G>T (p.Asp16028Tyr)
c.37936G>T (p.Asp12646Tyr)
2g.178570945C=CA1310531321TTN,TTN-AS1c.67483G= (p.Asp22495=)
c.48568G= (p.Asp16190=)
c.48367G= (p.Asp16123=)
c.47992G= (p.Asp15998=)
c.75187G= (p.Asp25063=)
c.70264G= (p.Asp23422=)
n.447-355C=
n.2044-11627C=
c.74284G= (p.Asp24762=)
c.48178G= (p.Asp16060=)
c.48037G= (p.Asp16013=)
c.74080G= (p.Asp24694=)
c.69478G= (p.Asp23160=)
c.69475G= (p.Asp23159=)
c.66517G= (p.Asp22173=)
c.48133G= (p.Asp16045=)
c.69628G= (p.Asp23210=)
c.69625G= (p.Asp23209=)
c.69058G= (p.Asp23020=)
c.66400G= (p.Asp22134=)
c.66319G= (p.Asp22107=)
c.48082G= (p.Asp16028=)
c.37936G= (p.Asp12646=)
2g.178570945C>GCA349628187TTN,TTN-AS1c.67483G>C (p.Asp22495His)
c.48568G>C (p.Asp16190His)
c.48367G>C (p.Asp16123His)
c.47992G>C (p.Asp15998His)
c.75187G>C (p.Asp25063His)
c.70264G>C (p.Asp23422His)
n.447-355C>G
n.2044-11627C>G
c.74284G>C (p.Asp24762His)
c.48178G>C (p.Asp16060His)
c.48037G>C (p.Asp16013His)
c.74080G>C (p.Asp24694His)
c.69478G>C (p.Asp23160His)
c.69475G>C (p.Asp23159His)
c.66517G>C (p.Asp22173His)
c.48133G>C (p.Asp16045His)
c.69628G>C (p.Asp23210His)
c.69625G>C (p.Asp23209His)
c.69058G>C (p.Asp23020His)
c.66400G>C (p.Asp22134His)
c.66319G>C (p.Asp22107His)
c.48082G>C (p.Asp16028His)
c.37936G>C (p.Asp12646His)
 ClinVar dbSNP gnomAD v4
2g.178570945C>TCA349628190TTN,TTN-AS1c.67483G>A (p.Asp22495Asn)
c.48568G>A (p.Asp16190Asn)
c.48367G>A (p.Asp16123Asn)
c.47992G>A (p.Asp15998Asn)
c.75187G>A (p.Asp25063Asn)
c.70264G>A (p.Asp23422Asn)
n.447-355C>T
n.2044-11627C>T
c.74284G>A (p.Asp24762Asn)
c.48178G>A (p.Asp16060Asn)
c.48037G>A (p.Asp16013Asn)
c.74080G>A (p.Asp24694Asn)
c.69478G>A (p.Asp23160Asn)
c.69475G>A (p.Asp23159Asn)
c.66517G>A (p.Asp22173Asn)
c.48133G>A (p.Asp16045Asn)
c.69628G>A (p.Asp23210Asn)
c.69625G>A (p.Asp23209Asn)
c.69058G>A (p.Asp23020Asn)
c.66400G>A (p.Asp22134Asn)
c.66319G>A (p.Asp22107Asn)
c.48082G>A (p.Asp16028Asn)
c.37936G>A (p.Asp12646Asn)
2g.178570946A=CA1310531322TTN,TTN-AS1c.67482T= (p.Ile22494=)
c.48567T= (p.Ile16189=)
c.48366T= (p.Ile16122=)
c.47991T= (p.Ile15997=)
c.75186T= (p.Ile25062=)
c.70263T= (p.Ile23421=)
n.447-354A=
n.2044-11626A=
c.74283T= (p.Ile24761=)
c.48177T= (p.Ile16059=)
c.48036T= (p.Ile16012=)
c.74079T= (p.Ile24693=)
c.69477T= (p.Ile23159=)
c.69474T= (p.Ile23158=)
c.66516T= (p.Ile22172=)
c.48132T= (p.Ile16044=)
c.69627T= (p.Ile23209=)
c.69624T= (p.Ile23208=)
c.69057T= (p.Ile23019=)
c.66399T= (p.Ile22133=)
c.66318T= (p.Ile22106=)
c.48081T= (p.Ile16027=)
c.37935T= (p.Ile12645=)
2g.178570946A>CCA349628195TTN,TTN-AS1c.67482T>G (p.Ile22494Met)
c.48567T>G (p.Ile16189Met)
c.48366T>G (p.Ile16122Met)
c.47991T>G (p.Ile15997Met)
c.75186T>G (p.Ile25062Met)
c.70263T>G (p.Ile23421Met)
n.447-354A>C
n.2044-11626A>C
c.74283T>G (p.Ile24761Met)
c.48177T>G (p.Ile16059Met)
c.48036T>G (p.Ile16012Met)
c.74079T>G (p.Ile24693Met)
c.69477T>G (p.Ile23159Met)
c.69474T>G (p.Ile23158Met)
c.66516T>G (p.Ile22172Met)
c.48132T>G (p.Ile16044Met)
c.69627T>G (p.Ile23209Met)
c.69624T>G (p.Ile23208Met)
c.69057T>G (p.Ile23019Met)
c.66399T>G (p.Ile22133Met)
c.66318T>G (p.Ile22106Met)
c.48081T>G (p.Ile16027Met)
c.37935T>G (p.Ile12645Met)
2g.178570946A>GCA430255172TTN,TTN-AS1c.67482T>C (p.Ile22494=)
c.48567T>C (p.Ile16189=)
c.48366T>C (p.Ile16122=)
c.47991T>C (p.Ile15997=)
c.75186T>C (p.Ile25062=)
c.70263T>C (p.Ile23421=)
n.447-354A>G
n.2044-11626A>G
c.74283T>C (p.Ile24761=)
c.48177T>C (p.Ile16059=)
c.48036T>C (p.Ile16012=)
c.74079T>C (p.Ile24693=)
c.69477T>C (p.Ile23159=)
c.69474T>C (p.Ile23158=)
c.66516T>C (p.Ile22172=)
c.48132T>C (p.Ile16044=)
c.69627T>C (p.Ile23209=)
c.69624T>C (p.Ile23208=)
c.69057T>C (p.Ile23019=)
c.66399T>C (p.Ile22133=)
c.66318T>C (p.Ile22106=)
c.48081T>C (p.Ile16027=)
c.37935T>C (p.Ile12645=)
 dbSNP
2g.178570946A>TCA430255174TTN,TTN-AS1c.67482T>A (p.Ile22494=)
c.48567T>A (p.Ile16189=)
c.48366T>A (p.Ile16122=)
c.47991T>A (p.Ile15997=)
c.75186T>A (p.Ile25062=)
c.70263T>A (p.Ile23421=)
n.447-354A>T
n.2044-11626A>T
c.74283T>A (p.Ile24761=)
c.48177T>A (p.Ile16059=)
c.48036T>A (p.Ile16012=)
c.74079T>A (p.Ile24693=)
c.69477T>A (p.Ile23159=)
c.69474T>A (p.Ile23158=)
c.66516T>A (p.Ile22172=)
c.48132T>A (p.Ile16044=)
c.69627T>A (p.Ile23209=)
c.69624T>A (p.Ile23208=)
c.69057T>A (p.Ile23019=)
c.66399T>A (p.Ile22133=)
c.66318T>A (p.Ile22106=)
c.48081T>A (p.Ile16027=)
c.37935T>A (p.Ile12645=)
2g.178570950_178570952delCA2662129163TTN,TTN-AS1c.67480_67482del (p.Ile22494del)
c.48565_48567del (p.Ile16189del)
c.48364_48366del (p.Ile16122del)
c.47989_47991del (p.Ile15997del)
c.75184_75186del (p.Ile25062del)
c.70261_70263del (p.Ile23421del)
n.447-350_447-348del
n.2044-11622_2044-11620del
c.74281_74283del (p.Ile24761del)
c.48175_48177del (p.Ile16059del)
c.48034_48036del (p.Ile16012del)
c.74077_74079del (p.Ile24693del)
c.69475_69477del (p.Ile23159del)
c.69472_69474del (p.Ile23158del)
c.66514_66516del (p.Ile22172del)
c.48130_48132del (p.Ile16044del)
c.69625_69627del (p.Ile23209del)
c.69622_69624del (p.Ile23208del)
c.69055_69057del (p.Ile23019del)
c.66397_66399del (p.Ile22133del)
c.66316_66318del (p.Ile22106del)
c.48079_48081del (p.Ile16027del)
c.37933_37935del (p.Ile12645del)
 gnomAD v4
2g.178570947A=CA1310531323TTN,TTN-AS1c.67481T= (p.Ile22494=)
c.48566T= (p.Ile16189=)
c.48365T= (p.Ile16122=)
c.47990T= (p.Ile15997=)
c.75185T= (p.Ile25062=)
c.70262T= (p.Ile23421=)
n.447-353A=
n.2044-11625A=
c.74282T= (p.Ile24761=)
c.48176T= (p.Ile16059=)
c.48035T= (p.Ile16012=)
c.74078T= (p.Ile24693=)
c.69476T= (p.Ile23159=)
c.69473T= (p.Ile23158=)
c.66515T= (p.Ile22172=)
c.48131T= (p.Ile16044=)
c.69626T= (p.Ile23209=)
c.69623T= (p.Ile23208=)
c.69056T= (p.Ile23019=)
c.66398T= (p.Ile22133=)
c.66317T= (p.Ile22106=)
c.48080T= (p.Ile16027=)
c.37934T= (p.Ile12645=)
2g.178570947A>CCA349628197TTN,TTN-AS1c.67481T>G (p.Ile22494Ser)
c.48566T>G (p.Ile16189Ser)
c.48365T>G (p.Ile16122Ser)
c.47990T>G (p.Ile15997Ser)
c.75185T>G (p.Ile25062Ser)
c.70262T>G (p.Ile23421Ser)
n.447-353A>C
n.2044-11625A>C
c.74282T>G (p.Ile24761Ser)
c.48176T>G (p.Ile16059Ser)
c.48035T>G (p.Ile16012Ser)
c.74078T>G (p.Ile24693Ser)
c.69476T>G (p.Ile23159Ser)
c.69473T>G (p.Ile23158Ser)
c.66515T>G (p.Ile22172Ser)
c.48131T>G (p.Ile16044Ser)
c.69626T>G (p.Ile23209Ser)
c.69623T>G (p.Ile23208Ser)
c.69056T>G (p.Ile23019Ser)
c.66398T>G (p.Ile22133Ser)
c.66317T>G (p.Ile22106Ser)
c.48080T>G (p.Ile16027Ser)
c.37934T>G (p.Ile12645Ser)
 gnomAD v4
2g.178570947A>GCA60996326TTN,TTN-AS1c.67481T>C (p.Ile22494Thr)
c.48566T>C (p.Ile16189Thr)
c.48365T>C (p.Ile16122Thr)
c.47990T>C (p.Ile15997Thr)
c.75185T>C (p.Ile25062Thr)
c.70262T>C (p.Ile23421Thr)
n.447-353A>G
n.2044-11625A>G
c.74282T>C (p.Ile24761Thr)
c.48176T>C (p.Ile16059Thr)
c.48035T>C (p.Ile16012Thr)
c.74078T>C (p.Ile24693Thr)
c.69476T>C (p.Ile23159Thr)
c.69473T>C (p.Ile23158Thr)
c.66515T>C (p.Ile22172Thr)
c.48131T>C (p.Ile16044Thr)
c.69626T>C (p.Ile23209Thr)
c.69623T>C (p.Ile23208Thr)
c.69056T>C (p.Ile23019Thr)
c.66398T>C (p.Ile22133Thr)
c.66317T>C (p.Ile22106Thr)
c.48080T>C (p.Ile16027Thr)
c.37934T>C (p.Ile12645Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178570947A>TCA349628205TTN,TTN-AS1c.67481T>A (p.Ile22494Asn)
c.48566T>A (p.Ile16189Asn)
c.48365T>A (p.Ile16122Asn)
c.47990T>A (p.Ile15997Asn)
c.75185T>A (p.Ile25062Asn)
c.70262T>A (p.Ile23421Asn)
n.447-353A>T
n.2044-11625A>T
c.74282T>A (p.Ile24761Asn)
c.48176T>A (p.Ile16059Asn)
c.48035T>A (p.Ile16012Asn)
c.74078T>A (p.Ile24693Asn)
c.69476T>A (p.Ile23159Asn)
c.69473T>A (p.Ile23158Asn)
c.66515T>A (p.Ile22172Asn)
c.48131T>A (p.Ile16044Asn)
c.69626T>A (p.Ile23209Asn)
c.69623T>A (p.Ile23208Asn)
c.69056T>A (p.Ile23019Asn)
c.66398T>A (p.Ile22133Asn)
c.66317T>A (p.Ile22106Asn)
c.48080T>A (p.Ile16027Asn)
c.37934T>A (p.Ile12645Asn)
2g.178570948T>ACA349628210TTN,TTN-AS1c.67480A>T (p.Ile22494Phe)
c.48565A>T (p.Ile16189Phe)
c.48364A>T (p.Ile16122Phe)
c.47989A>T (p.Ile15997Phe)
c.75184A>T (p.Ile25062Phe)
c.70261A>T (p.Ile23421Phe)
n.447-352T>A
n.2044-11624T>A
c.74281A>T (p.Ile24761Phe)
c.48175A>T (p.Ile16059Phe)
c.48034A>T (p.Ile16012Phe)
c.74077A>T (p.Ile24693Phe)
c.69475A>T (p.Ile23159Phe)
c.69472A>T (p.Ile23158Phe)
c.66514A>T (p.Ile22172Phe)
c.48130A>T (p.Ile16044Phe)
c.69625A>T (p.Ile23209Phe)
c.69622A>T (p.Ile23208Phe)
c.69055A>T (p.Ile23019Phe)
c.66397A>T (p.Ile22133Phe)
c.66316A>T (p.Ile22106Phe)
c.48079A>T (p.Ile16027Phe)
c.37933A>T (p.Ile12645Phe)
2g.178570948T>CCA349628218TTN,TTN-AS1c.67480A>G (p.Ile22494Val)
c.48565A>G (p.Ile16189Val)
c.48364A>G (p.Ile16122Val)
c.47989A>G (p.Ile15997Val)
c.75184A>G (p.Ile25062Val)
c.70261A>G (p.Ile23421Val)
n.447-352T>C
n.2044-11624T>C
c.74281A>G (p.Ile24761Val)
c.48175A>G (p.Ile16059Val)
c.48034A>G (p.Ile16012Val)
c.74077A>G (p.Ile24693Val)
c.69475A>G (p.Ile23159Val)
c.69472A>G (p.Ile23158Val)
c.66514A>G (p.Ile22172Val)
c.48130A>G (p.Ile16044Val)
c.69625A>G (p.Ile23209Val)
c.69622A>G (p.Ile23208Val)
c.69055A>G (p.Ile23019Val)
c.66397A>G (p.Ile22133Val)
c.66316A>G (p.Ile22106Val)
c.48079A>G (p.Ile16027Val)
c.37933A>G (p.Ile12645Val)
2g.178570948T>GCA349628216TTN,TTN-AS1c.67480A>C (p.Ile22494Leu)
c.48565A>C (p.Ile16189Leu)
c.48364A>C (p.Ile16122Leu)
c.47989A>C (p.Ile15997Leu)
c.75184A>C (p.Ile25062Leu)
c.70261A>C (p.Ile23421Leu)
n.447-352T>G
n.2044-11624T>G
c.74281A>C (p.Ile24761Leu)
c.48175A>C (p.Ile16059Leu)
c.48034A>C (p.Ile16012Leu)
c.74077A>C (p.Ile24693Leu)
c.69475A>C (p.Ile23159Leu)
c.69472A>C (p.Ile23158Leu)
c.66514A>C (p.Ile22172Leu)
c.48130A>C (p.Ile16044Leu)
c.69625A>C (p.Ile23209Leu)
c.69622A>C (p.Ile23208Leu)
c.69055A>C (p.Ile23019Leu)
c.66397A>C (p.Ile22133Leu)
c.66316A>C (p.Ile22106Leu)
c.48079A>C (p.Ile16027Leu)
c.37933A>C (p.Ile12645Leu)
2g.178570949A>CCA349628222TTN,TTN-AS1c.67479T>G (p.Ile22493Met)
c.48564T>G (p.Ile16188Met)
c.48363T>G (p.Ile16121Met)
c.47988T>G (p.Ile15996Met)
c.75183T>G (p.Ile25061Met)
c.70260T>G (p.Ile23420Met)
n.447-351A>C
n.2044-11623A>C
c.74280T>G (p.Ile24760Met)
c.48174T>G (p.Ile16058Met)
c.48033T>G (p.Ile16011Met)
c.74076T>G (p.Ile24692Met)
c.69474T>G (p.Ile23158Met)
c.69471T>G (p.Ile23157Met)
c.66513T>G (p.Ile22171Met)
c.48129T>G (p.Ile16043Met)
c.69624T>G (p.Ile23208Met)
c.69621T>G (p.Ile23207Met)
c.69054T>G (p.Ile23018Met)
c.66396T>G (p.Ile22132Met)
c.66315T>G (p.Ile22105Met)
c.48078T>G (p.Ile16026Met)
c.37932T>G (p.Ile12644Met)
2g.178570949A>GCA430255180TTN,TTN-AS1c.67479T>C (p.Ile22493=)
c.48564T>C (p.Ile16188=)
c.48363T>C (p.Ile16121=)
c.47988T>C (p.Ile15996=)
c.75183T>C (p.Ile25061=)
c.70260T>C (p.Ile23420=)
n.447-351A>G
n.2044-11623A>G
c.74280T>C (p.Ile24760=)
c.48174T>C (p.Ile16058=)
c.48033T>C (p.Ile16011=)
c.74076T>C (p.Ile24692=)
c.69474T>C (p.Ile23158=)
c.69471T>C (p.Ile23157=)
c.66513T>C (p.Ile22171=)
c.48129T>C (p.Ile16043=)
c.69624T>C (p.Ile23208=)
c.69621T>C (p.Ile23207=)
c.69054T>C (p.Ile23018=)
c.66396T>C (p.Ile22132=)
c.66315T>C (p.Ile22105=)
c.48078T>C (p.Ile16026=)
c.37932T>C (p.Ile12644=)
2g.178570949A>TCA430255182TTN,TTN-AS1c.67479T>A (p.Ile22493=)
c.48564T>A (p.Ile16188=)
c.48363T>A (p.Ile16121=)
c.47988T>A (p.Ile15996=)
c.75183T>A (p.Ile25061=)
c.70260T>A (p.Ile23420=)
n.447-351A>T
n.2044-11623A>T
c.74280T>A (p.Ile24760=)
c.48174T>A (p.Ile16058=)
c.48033T>A (p.Ile16011=)
c.74076T>A (p.Ile24692=)
c.69474T>A (p.Ile23158=)
c.69471T>A (p.Ile23157=)
c.66513T>A (p.Ile22171=)
c.48129T>A (p.Ile16043=)
c.69624T>A (p.Ile23208=)
c.69621T>A (p.Ile23207=)
c.69054T>A (p.Ile23018=)
c.66396T>A (p.Ile22132=)
c.66315T>A (p.Ile22105=)
c.48078T>A (p.Ile16026=)
c.37932T>A (p.Ile12644=)
2g.178570950A=CA1310531324TTN,TTN-AS1c.67478T= (p.Ile22493=)
c.48563T= (p.Ile16188=)
c.48362T= (p.Ile16121=)
c.47987T= (p.Ile15996=)
c.75182T= (p.Ile25061=)
c.70259T= (p.Ile23420=)
n.447-350A=
n.2044-11622A=
c.74279T= (p.Ile24760=)
c.48173T= (p.Ile16058=)
c.48032T= (p.Ile16011=)
c.74075T= (p.Ile24692=)
c.69473T= (p.Ile23158=)
c.69470T= (p.Ile23157=)
c.66512T= (p.Ile22171=)
c.48128T= (p.Ile16043=)
c.69623T= (p.Ile23208=)
c.69620T= (p.Ile23207=)
c.69053T= (p.Ile23018=)
c.66395T= (p.Ile22132=)
c.66314T= (p.Ile22105=)
c.48077T= (p.Ile16026=)
c.37931T= (p.Ile12644=)
2g.178570950A>CCA349628230TTN,TTN-AS1c.67478T>G (p.Ile22493Ser)
c.48563T>G (p.Ile16188Ser)
c.48362T>G (p.Ile16121Ser)
c.47987T>G (p.Ile15996Ser)
c.75182T>G (p.Ile25061Ser)
c.70259T>G (p.Ile23420Ser)
n.447-350A>C
n.2044-11622A>C
c.74279T>G (p.Ile24760Ser)
c.48173T>G (p.Ile16058Ser)
c.48032T>G (p.Ile16011Ser)
c.74075T>G (p.Ile24692Ser)
c.69473T>G (p.Ile23158Ser)
c.69470T>G (p.Ile23157Ser)
c.66512T>G (p.Ile22171Ser)
c.48128T>G (p.Ile16043Ser)
c.69623T>G (p.Ile23208Ser)
c.69620T>G (p.Ile23207Ser)
c.69053T>G (p.Ile23018Ser)
c.66395T>G (p.Ile22132Ser)
c.66314T>G (p.Ile22105Ser)
c.48077T>G (p.Ile16026Ser)
c.37931T>G (p.Ile12644Ser)
2g.178570950A>GCA349628233TTN,TTN-AS1c.67478T>C (p.Ile22493Thr)
c.48563T>C (p.Ile16188Thr)
c.48362T>C (p.Ile16121Thr)
c.47987T>C (p.Ile15996Thr)
c.75182T>C (p.Ile25061Thr)
c.70259T>C (p.Ile23420Thr)
n.447-350A>G
n.2044-11622A>G
c.74279T>C (p.Ile24760Thr)
c.48173T>C (p.Ile16058Thr)
c.48032T>C (p.Ile16011Thr)
c.74075T>C (p.Ile24692Thr)
c.69473T>C (p.Ile23158Thr)
c.69470T>C (p.Ile23157Thr)
c.66512T>C (p.Ile22171Thr)
c.48128T>C (p.Ile16043Thr)
c.69623T>C (p.Ile23208Thr)
c.69620T>C (p.Ile23207Thr)
c.69053T>C (p.Ile23018Thr)
c.66395T>C (p.Ile22132Thr)
c.66314T>C (p.Ile22105Thr)
c.48077T>C (p.Ile16026Thr)
c.37931T>C (p.Ile12644Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178570950A>TCA349628239TTN,TTN-AS1c.67478T>A (p.Ile22493Asn)
c.48563T>A (p.Ile16188Asn)
c.48362T>A (p.Ile16121Asn)
c.47987T>A (p.Ile15996Asn)
c.75182T>A (p.Ile25061Asn)
c.70259T>A (p.Ile23420Asn)
n.447-350A>T
n.2044-11622A>T
c.74279T>A (p.Ile24760Asn)
c.48173T>A (p.Ile16058Asn)
c.48032T>A (p.Ile16011Asn)
c.74075T>A (p.Ile24692Asn)
c.69473T>A (p.Ile23158Asn)
c.69470T>A (p.Ile23157Asn)
c.66512T>A (p.Ile22171Asn)
c.48128T>A (p.Ile16043Asn)
c.69623T>A (p.Ile23208Asn)
c.69620T>A (p.Ile23207Asn)
c.69053T>A (p.Ile23018Asn)
c.66395T>A (p.Ile22132Asn)
c.66314T>A (p.Ile22105Asn)
c.48077T>A (p.Ile16026Asn)
c.37931T>A (p.Ile12644Asn)
2g.178570951T>ACA349628245TTN,TTN-AS1c.67477A>T (p.Ile22493Phe)
c.48562A>T (p.Ile16188Phe)
c.48361A>T (p.Ile16121Phe)
c.47986A>T (p.Ile15996Phe)
c.75181A>T (p.Ile25061Phe)
c.70258A>T (p.Ile23420Phe)
n.447-349T>A
n.2044-11621T>A
c.74278A>T (p.Ile24760Phe)
c.48172A>T (p.Ile16058Phe)
c.48031A>T (p.Ile16011Phe)
c.74074A>T (p.Ile24692Phe)
c.69472A>T (p.Ile23158Phe)
c.69469A>T (p.Ile23157Phe)
c.66511A>T (p.Ile22171Phe)
c.48127A>T (p.Ile16043Phe)
c.69622A>T (p.Ile23208Phe)
c.69619A>T (p.Ile23207Phe)
c.69052A>T (p.Ile23018Phe)
c.66394A>T (p.Ile22132Phe)
c.66313A>T (p.Ile22105Phe)
c.48076A>T (p.Ile16026Phe)
c.37930A>T (p.Ile12644Phe)

Number of alleles fetched