Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178579563A>CCA349423323TTN,TTN-AS1c.59930T>G (p.Val19977Gly)
c.41015T>G (p.Val13672Gly)
c.40814T>G (p.Val13605Gly)
c.40439T>G (p.Val13480Gly)
c.67634T>G (p.Val22545Gly)
c.62711T>G (p.Val20904Gly)
n.596+8114A>C
n.2044-3009A>C
c.66731T>G (p.Val22244Gly)
c.40625T>G (p.Val13542Gly)
c.40484T>G (p.Val13495Gly)
c.66527T>G (p.Val22176Gly)
c.61925T>G (p.Val20642Gly)
c.61922T>G (p.Val20641Gly)
c.58964T>G (p.Val19655Gly)
c.40580T>G (p.Val13527Gly)
c.62075T>G (p.Val20692Gly)
c.62072T>G (p.Val20691Gly)
c.61505T>G (p.Val20502Gly)
c.58847T>G (p.Val19616Gly)
c.58766T>G (p.Val19589Gly)
c.40529T>G (p.Val13510Gly)
c.30383T>G (p.Val10128Gly)
2g.178579563A>GCA349423322TTN,TTN-AS1c.59930T>C (p.Val19977Ala)
c.41015T>C (p.Val13672Ala)
c.40814T>C (p.Val13605Ala)
c.40439T>C (p.Val13480Ala)
c.67634T>C (p.Val22545Ala)
c.62711T>C (p.Val20904Ala)
n.596+8114A>G
n.2044-3009A>G
c.66731T>C (p.Val22244Ala)
c.40625T>C (p.Val13542Ala)
c.40484T>C (p.Val13495Ala)
c.66527T>C (p.Val22176Ala)
c.61925T>C (p.Val20642Ala)
c.61922T>C (p.Val20641Ala)
c.58964T>C (p.Val19655Ala)
c.40580T>C (p.Val13527Ala)
c.62075T>C (p.Val20692Ala)
c.62072T>C (p.Val20691Ala)
c.61505T>C (p.Val20502Ala)
c.58847T>C (p.Val19616Ala)
c.58766T>C (p.Val19589Ala)
c.40529T>C (p.Val13510Ala)
c.30383T>C (p.Val10128Ala)
2g.178579563A>TCA349423321TTN,TTN-AS1c.59930T>A (p.Val19977Asp)
c.41015T>A (p.Val13672Asp)
c.40814T>A (p.Val13605Asp)
c.40439T>A (p.Val13480Asp)
c.67634T>A (p.Val22545Asp)
c.62711T>A (p.Val20904Asp)
n.596+8114A>T
n.2044-3009A>T
c.66731T>A (p.Val22244Asp)
c.40625T>A (p.Val13542Asp)
c.40484T>A (p.Val13495Asp)
c.66527T>A (p.Val22176Asp)
c.61925T>A (p.Val20642Asp)
c.61922T>A (p.Val20641Asp)
c.58964T>A (p.Val19655Asp)
c.40580T>A (p.Val13527Asp)
c.62075T>A (p.Val20692Asp)
c.62072T>A (p.Val20691Asp)
c.61505T>A (p.Val20502Asp)
c.58847T>A (p.Val19616Asp)
c.58766T>A (p.Val19589Asp)
c.40529T>A (p.Val13510Asp)
c.30383T>A (p.Val10128Asp)
2g.178579564C>ACA349423324TTN,TTN-AS1c.59929G>T (p.Val19977Phe)
c.41014G>T (p.Val13672Phe)
c.40813G>T (p.Val13605Phe)
c.40438G>T (p.Val13480Phe)
c.67633G>T (p.Val22545Phe)
c.62710G>T (p.Val20904Phe)
n.596+8115C>A
n.2044-3008C>A
c.66730G>T (p.Val22244Phe)
c.40624G>T (p.Val13542Phe)
c.40483G>T (p.Val13495Phe)
c.66526G>T (p.Val22176Phe)
c.61924G>T (p.Val20642Phe)
c.61921G>T (p.Val20641Phe)
c.58963G>T (p.Val19655Phe)
c.40579G>T (p.Val13527Phe)
c.62074G>T (p.Val20692Phe)
c.62071G>T (p.Val20691Phe)
c.61504G>T (p.Val20502Phe)
c.58846G>T (p.Val19616Phe)
c.58765G>T (p.Val19589Phe)
c.40528G>T (p.Val13510Phe)
c.30382G>T (p.Val10128Phe)
2g.178579564C>GCA349423325TTN,TTN-AS1c.59929G>C (p.Val19977Leu)
c.41014G>C (p.Val13672Leu)
c.40813G>C (p.Val13605Leu)
c.40438G>C (p.Val13480Leu)
c.67633G>C (p.Val22545Leu)
c.62710G>C (p.Val20904Leu)
n.596+8115C>G
n.2044-3008C>G
c.66730G>C (p.Val22244Leu)
c.40624G>C (p.Val13542Leu)
c.40483G>C (p.Val13495Leu)
c.66526G>C (p.Val22176Leu)
c.61924G>C (p.Val20642Leu)
c.61921G>C (p.Val20641Leu)
c.58963G>C (p.Val19655Leu)
c.40579G>C (p.Val13527Leu)
c.62074G>C (p.Val20692Leu)
c.62071G>C (p.Val20691Leu)
c.61504G>C (p.Val20502Leu)
c.58846G>C (p.Val19616Leu)
c.58765G>C (p.Val19589Leu)
c.40528G>C (p.Val13510Leu)
c.30382G>C (p.Val10128Leu)
2g.178579564C>TCA349423326TTN,TTN-AS1c.59929G>A (p.Val19977Ile)
c.41014G>A (p.Val13672Ile)
c.40813G>A (p.Val13605Ile)
c.40438G>A (p.Val13480Ile)
c.67633G>A (p.Val22545Ile)
c.62710G>A (p.Val20904Ile)
n.596+8115C>T
n.2044-3008C>T
c.66730G>A (p.Val22244Ile)
c.40624G>A (p.Val13542Ile)
c.40483G>A (p.Val13495Ile)
c.66526G>A (p.Val22176Ile)
c.61924G>A (p.Val20642Ile)
c.61921G>A (p.Val20641Ile)
c.58963G>A (p.Val19655Ile)
c.40579G>A (p.Val13527Ile)
c.62074G>A (p.Val20692Ile)
c.62071G>A (p.Val20691Ile)
c.61504G>A (p.Val20502Ile)
c.58846G>A (p.Val19616Ile)
c.58765G>A (p.Val19589Ile)
c.40528G>A (p.Val13510Ile)
c.30382G>A (p.Val10128Ile)
2g.178579565A=CA1310534547TTN,TTN-AS1c.59928T= (p.Asp19976=)
c.41013T= (p.Asp13671=)
c.40812T= (p.Asp13604=)
c.40437T= (p.Asp13479=)
c.67632T= (p.Asp22544=)
c.62709T= (p.Asp20903=)
n.596+8116A=
n.2044-3007A=
c.66729T= (p.Asp22243=)
c.40623T= (p.Asp13541=)
c.40482T= (p.Asp13494=)
c.66525T= (p.Asp22175=)
c.61923T= (p.Asp20641=)
c.61920T= (p.Asp20640=)
c.58962T= (p.Asp19654=)
c.40578T= (p.Asp13526=)
c.62073T= (p.Asp20691=)
c.62070T= (p.Asp20690=)
c.61503T= (p.Asp20501=)
c.58845T= (p.Asp19615=)
c.58764T= (p.Asp19588=)
c.40527T= (p.Asp13509=)
c.30381T= (p.Asp10127=)
2g.178579565A>CCA349423327TTN,TTN-AS1c.59928T>G (p.Asp19976Glu)
c.41013T>G (p.Asp13671Glu)
c.40812T>G (p.Asp13604Glu)
c.40437T>G (p.Asp13479Glu)
c.67632T>G (p.Asp22544Glu)
c.62709T>G (p.Asp20903Glu)
n.596+8116A>C
n.2044-3007A>C
c.66729T>G (p.Asp22243Glu)
c.40623T>G (p.Asp13541Glu)
c.40482T>G (p.Asp13494Glu)
c.66525T>G (p.Asp22175Glu)
c.61923T>G (p.Asp20641Glu)
c.61920T>G (p.Asp20640Glu)
c.58962T>G (p.Asp19654Glu)
c.40578T>G (p.Asp13526Glu)
c.62073T>G (p.Asp20691Glu)
c.62070T>G (p.Asp20690Glu)
c.61503T>G (p.Asp20501Glu)
c.58845T>G (p.Asp19615Glu)
c.58764T>G (p.Asp19588Glu)
c.40527T>G (p.Asp13509Glu)
c.30381T>G (p.Asp10127Glu)
2g.178579565A>GCA430260988TTN,TTN-AS1c.59928T>C (p.Asp19976=)
c.41013T>C (p.Asp13671=)
c.40812T>C (p.Asp13604=)
c.40437T>C (p.Asp13479=)
c.67632T>C (p.Asp22544=)
c.62709T>C (p.Asp20903=)
n.596+8116A>G
n.2044-3007A>G
c.66729T>C (p.Asp22243=)
c.40623T>C (p.Asp13541=)
c.40482T>C (p.Asp13494=)
c.66525T>C (p.Asp22175=)
c.61923T>C (p.Asp20641=)
c.61920T>C (p.Asp20640=)
c.58962T>C (p.Asp19654=)
c.40578T>C (p.Asp13526=)
c.62073T>C (p.Asp20691=)
c.62070T>C (p.Asp20690=)
c.61503T>C (p.Asp20501=)
c.58845T>C (p.Asp19615=)
c.58764T>C (p.Asp19588=)
c.40527T>C (p.Asp13509=)
c.30381T>C (p.Asp10127=)
 dbSNP
2g.178579565A>TCA349423328TTN,TTN-AS1c.59928T>A (p.Asp19976Glu)
c.41013T>A (p.Asp13671Glu)
c.40812T>A (p.Asp13604Glu)
c.40437T>A (p.Asp13479Glu)
c.67632T>A (p.Asp22544Glu)
c.62709T>A (p.Asp20903Glu)
n.596+8116A>T
n.2044-3007A>T
c.66729T>A (p.Asp22243Glu)
c.40623T>A (p.Asp13541Glu)
c.40482T>A (p.Asp13494Glu)
c.66525T>A (p.Asp22175Glu)
c.61923T>A (p.Asp20641Glu)
c.61920T>A (p.Asp20640Glu)
c.58962T>A (p.Asp19654Glu)
c.40578T>A (p.Asp13526Glu)
c.62073T>A (p.Asp20691Glu)
c.62070T>A (p.Asp20690Glu)
c.61503T>A (p.Asp20501Glu)
c.58845T>A (p.Asp19615Glu)
c.58764T>A (p.Asp19588Glu)
c.40527T>A (p.Asp13509Glu)
c.30381T>A (p.Asp10127Glu)
2g.178579566T>ACA349423329TTN,TTN-AS1c.59927A>T (p.Asp19976Val)
c.41012A>T (p.Asp13671Val)
c.40811A>T (p.Asp13604Val)
c.40436A>T (p.Asp13479Val)
c.67631A>T (p.Asp22544Val)
c.62708A>T (p.Asp20903Val)
n.596+8117T>A
n.2044-3006T>A
c.66728A>T (p.Asp22243Val)
c.40622A>T (p.Asp13541Val)
c.40481A>T (p.Asp13494Val)
c.66524A>T (p.Asp22175Val)
c.61922A>T (p.Asp20641Val)
c.61919A>T (p.Asp20640Val)
c.58961A>T (p.Asp19654Val)
c.40577A>T (p.Asp13526Val)
c.62072A>T (p.Asp20691Val)
c.62069A>T (p.Asp20690Val)
c.61502A>T (p.Asp20501Val)
c.58844A>T (p.Asp19615Val)
c.58763A>T (p.Asp19588Val)
c.40526A>T (p.Asp13509Val)
c.30380A>T (p.Asp10127Val)
2g.178579566T>CCA349423330TTN,TTN-AS1c.59927A>G (p.Asp19976Gly)
c.41012A>G (p.Asp13671Gly)
c.40811A>G (p.Asp13604Gly)
c.40436A>G (p.Asp13479Gly)
c.67631A>G (p.Asp22544Gly)
c.62708A>G (p.Asp20903Gly)
n.596+8117T>C
n.2044-3006T>C
c.66728A>G (p.Asp22243Gly)
c.40622A>G (p.Asp13541Gly)
c.40481A>G (p.Asp13494Gly)
c.66524A>G (p.Asp22175Gly)
c.61922A>G (p.Asp20641Gly)
c.61919A>G (p.Asp20640Gly)
c.58961A>G (p.Asp19654Gly)
c.40577A>G (p.Asp13526Gly)
c.62072A>G (p.Asp20691Gly)
c.62069A>G (p.Asp20690Gly)
c.61502A>G (p.Asp20501Gly)
c.58844A>G (p.Asp19615Gly)
c.58763A>G (p.Asp19588Gly)
c.40526A>G (p.Asp13509Gly)
c.30380A>G (p.Asp10127Gly)
2g.178579566T>GCA349423331TTN,TTN-AS1c.59927A>C (p.Asp19976Ala)
c.41012A>C (p.Asp13671Ala)
c.40811A>C (p.Asp13604Ala)
c.40436A>C (p.Asp13479Ala)
c.67631A>C (p.Asp22544Ala)
c.62708A>C (p.Asp20903Ala)
n.596+8117T>G
n.2044-3006T>G
c.66728A>C (p.Asp22243Ala)
c.40622A>C (p.Asp13541Ala)
c.40481A>C (p.Asp13494Ala)
c.66524A>C (p.Asp22175Ala)
c.61922A>C (p.Asp20641Ala)
c.61919A>C (p.Asp20640Ala)
c.58961A>C (p.Asp19654Ala)
c.40577A>C (p.Asp13526Ala)
c.62072A>C (p.Asp20691Ala)
c.62069A>C (p.Asp20690Ala)
c.61502A>C (p.Asp20501Ala)
c.58844A>C (p.Asp19615Ala)
c.58763A>C (p.Asp19588Ala)
c.40526A>C (p.Asp13509Ala)
c.30380A>C (p.Asp10127Ala)
2g.178579567C>ACA349423332TTN,TTN-AS1c.59926G>T (p.Asp19976Tyr)
c.41011G>T (p.Asp13671Tyr)
c.40810G>T (p.Asp13604Tyr)
c.40435G>T (p.Asp13479Tyr)
c.67630G>T (p.Asp22544Tyr)
c.62707G>T (p.Asp20903Tyr)
n.596+8118C>A
n.2044-3005C>A
c.66727G>T (p.Asp22243Tyr)
c.40621G>T (p.Asp13541Tyr)
c.40480G>T (p.Asp13494Tyr)
c.66523G>T (p.Asp22175Tyr)
c.61921G>T (p.Asp20641Tyr)
c.61918G>T (p.Asp20640Tyr)
c.58960G>T (p.Asp19654Tyr)
c.40576G>T (p.Asp13526Tyr)
c.62071G>T (p.Asp20691Tyr)
c.62068G>T (p.Asp20690Tyr)
c.61501G>T (p.Asp20501Tyr)
c.58843G>T (p.Asp19615Tyr)
c.58762G>T (p.Asp19588Tyr)
c.40525G>T (p.Asp13509Tyr)
c.30379G>T (p.Asp10127Tyr)
2g.178579567C>GCA349423333TTN,TTN-AS1c.59926G>C (p.Asp19976His)
c.41011G>C (p.Asp13671His)
c.40810G>C (p.Asp13604His)
c.40435G>C (p.Asp13479His)
c.67630G>C (p.Asp22544His)
c.62707G>C (p.Asp20903His)
n.596+8118C>G
n.2044-3005C>G
c.66727G>C (p.Asp22243His)
c.40621G>C (p.Asp13541His)
c.40480G>C (p.Asp13494His)
c.66523G>C (p.Asp22175His)
c.61921G>C (p.Asp20641His)
c.61918G>C (p.Asp20640His)
c.58960G>C (p.Asp19654His)
c.40576G>C (p.Asp13526His)
c.62071G>C (p.Asp20691His)
c.62068G>C (p.Asp20690His)
c.61501G>C (p.Asp20501His)
c.58843G>C (p.Asp19615His)
c.58762G>C (p.Asp19588His)
c.40525G>C (p.Asp13509His)
c.30379G>C (p.Asp10127His)
2g.178579567C>TCA349423334TTN,TTN-AS1c.59926G>A (p.Asp19976Asn)
c.41011G>A (p.Asp13671Asn)
c.40810G>A (p.Asp13604Asn)
c.40435G>A (p.Asp13479Asn)
c.67630G>A (p.Asp22544Asn)
c.62707G>A (p.Asp20903Asn)
n.596+8118C>T
n.2044-3005C>T
c.66727G>A (p.Asp22243Asn)
c.40621G>A (p.Asp13541Asn)
c.40480G>A (p.Asp13494Asn)
c.66523G>A (p.Asp22175Asn)
c.61921G>A (p.Asp20641Asn)
c.61918G>A (p.Asp20640Asn)
c.58960G>A (p.Asp19654Asn)
c.40576G>A (p.Asp13526Asn)
c.62071G>A (p.Asp20691Asn)
c.62068G>A (p.Asp20690Asn)
c.61501G>A (p.Asp20501Asn)
c.58843G>A (p.Asp19615Asn)
c.58762G>A (p.Asp19588Asn)
c.40525G>A (p.Asp13509Asn)
c.30379G>A (p.Asp10127Asn)
2g.178579568A>CCA349423335TTN,TTN-AS1c.59925T>G (p.Asp19975Glu)
c.41010T>G (p.Asp13670Glu)
c.40809T>G (p.Asp13603Glu)
c.40434T>G (p.Asp13478Glu)
c.67629T>G (p.Asp22543Glu)
c.62706T>G (p.Asp20902Glu)
n.596+8119A>C
n.2044-3004A>C
c.66726T>G (p.Asp22242Glu)
c.40620T>G (p.Asp13540Glu)
c.40479T>G (p.Asp13493Glu)
c.66522T>G (p.Asp22174Glu)
c.61920T>G (p.Asp20640Glu)
c.61917T>G (p.Asp20639Glu)
c.58959T>G (p.Asp19653Glu)
c.40575T>G (p.Asp13525Glu)
c.62070T>G (p.Asp20690Glu)
c.62067T>G (p.Asp20689Glu)
c.61500T>G (p.Asp20500Glu)
c.58842T>G (p.Asp19614Glu)
c.58761T>G (p.Asp19587Glu)
c.40524T>G (p.Asp13508Glu)
c.30378T>G (p.Asp10126Glu)
2g.178579568A>GCA430261001TTN,TTN-AS1c.59925T>C (p.Asp19975=)
c.41010T>C (p.Asp13670=)
c.40809T>C (p.Asp13603=)
c.40434T>C (p.Asp13478=)
c.67629T>C (p.Asp22543=)
c.62706T>C (p.Asp20902=)
n.596+8119A>G
n.2044-3004A>G
c.66726T>C (p.Asp22242=)
c.40620T>C (p.Asp13540=)
c.40479T>C (p.Asp13493=)
c.66522T>C (p.Asp22174=)
c.61920T>C (p.Asp20640=)
c.61917T>C (p.Asp20639=)
c.58959T>C (p.Asp19653=)
c.40575T>C (p.Asp13525=)
c.62070T>C (p.Asp20690=)
c.62067T>C (p.Asp20689=)
c.61500T>C (p.Asp20500=)
c.58842T>C (p.Asp19614=)
c.58761T>C (p.Asp19587=)
c.40524T>C (p.Asp13508=)
c.30378T>C (p.Asp10126=)
2g.178579568A>TCA349423336TTN,TTN-AS1c.59925T>A (p.Asp19975Glu)
c.41010T>A (p.Asp13670Glu)
c.40809T>A (p.Asp13603Glu)
c.40434T>A (p.Asp13478Glu)
c.67629T>A (p.Asp22543Glu)
c.62706T>A (p.Asp20902Glu)
n.596+8119A>T
n.2044-3004A>T
c.66726T>A (p.Asp22242Glu)
c.40620T>A (p.Asp13540Glu)
c.40479T>A (p.Asp13493Glu)
c.66522T>A (p.Asp22174Glu)
c.61920T>A (p.Asp20640Glu)
c.61917T>A (p.Asp20639Glu)
c.58959T>A (p.Asp19653Glu)
c.40575T>A (p.Asp13525Glu)
c.62070T>A (p.Asp20690Glu)
c.62067T>A (p.Asp20689Glu)
c.61500T>A (p.Asp20500Glu)
c.58842T>A (p.Asp19614Glu)
c.58761T>A (p.Asp19587Glu)
c.40524T>A (p.Asp13508Glu)
c.30378T>A (p.Asp10126Glu)
2g.178579569T>ACA349423338TTN,TTN-AS1c.59924A>T (p.Asp19975Val)
c.41009A>T (p.Asp13670Val)
c.40808A>T (p.Asp13603Val)
c.40433A>T (p.Asp13478Val)
c.67628A>T (p.Asp22543Val)
c.62705A>T (p.Asp20902Val)
n.596+8120T>A
n.2044-3003T>A
c.66725A>T (p.Asp22242Val)
c.40619A>T (p.Asp13540Val)
c.40478A>T (p.Asp13493Val)
c.66521A>T (p.Asp22174Val)
c.61919A>T (p.Asp20640Val)
c.61916A>T (p.Asp20639Val)
c.58958A>T (p.Asp19653Val)
c.40574A>T (p.Asp13525Val)
c.62069A>T (p.Asp20690Val)
c.62066A>T (p.Asp20689Val)
c.61499A>T (p.Asp20500Val)
c.58841A>T (p.Asp19614Val)
c.58760A>T (p.Asp19587Val)
c.40523A>T (p.Asp13508Val)
c.30377A>T (p.Asp10126Val)
2g.178579569T>CCA349423339TTN,TTN-AS1c.59924A>G (p.Asp19975Gly)
c.41009A>G (p.Asp13670Gly)
c.40808A>G (p.Asp13603Gly)
c.40433A>G (p.Asp13478Gly)
c.67628A>G (p.Asp22543Gly)
c.62705A>G (p.Asp20902Gly)
n.596+8120T>C
n.2044-3003T>C
c.66725A>G (p.Asp22242Gly)
c.40619A>G (p.Asp13540Gly)
c.40478A>G (p.Asp13493Gly)
c.66521A>G (p.Asp22174Gly)
c.61919A>G (p.Asp20640Gly)
c.61916A>G (p.Asp20639Gly)
c.58958A>G (p.Asp19653Gly)
c.40574A>G (p.Asp13525Gly)
c.62069A>G (p.Asp20690Gly)
c.62066A>G (p.Asp20689Gly)
c.61499A>G (p.Asp20500Gly)
c.58841A>G (p.Asp19614Gly)
c.58760A>G (p.Asp19587Gly)
c.40523A>G (p.Asp13508Gly)
c.30377A>G (p.Asp10126Gly)
2g.178579569T>GCA349423337TTN,TTN-AS1c.59924A>C (p.Asp19975Ala)
c.41009A>C (p.Asp13670Ala)
c.40808A>C (p.Asp13603Ala)
c.40433A>C (p.Asp13478Ala)
c.67628A>C (p.Asp22543Ala)
c.62705A>C (p.Asp20902Ala)
n.596+8120T>G
n.2044-3003T>G
c.66725A>C (p.Asp22242Ala)
c.40619A>C (p.Asp13540Ala)
c.40478A>C (p.Asp13493Ala)
c.66521A>C (p.Asp22174Ala)
c.61919A>C (p.Asp20640Ala)
c.61916A>C (p.Asp20639Ala)
c.58958A>C (p.Asp19653Ala)
c.40574A>C (p.Asp13525Ala)
c.62069A>C (p.Asp20690Ala)
c.62066A>C (p.Asp20689Ala)
c.61499A>C (p.Asp20500Ala)
c.58841A>C (p.Asp19614Ala)
c.58760A>C (p.Asp19587Ala)
c.40523A>C (p.Asp13508Ala)
c.30377A>C (p.Asp10126Ala)
2g.178579570C>ACA349423342TTN,TTN-AS1c.59923G>T (p.Asp19975Tyr)
c.41008G>T (p.Asp13670Tyr)
c.40807G>T (p.Asp13603Tyr)
c.40432G>T (p.Asp13478Tyr)
c.67627G>T (p.Asp22543Tyr)
c.62704G>T (p.Asp20902Tyr)
n.596+8121C>A
n.2044-3002C>A
c.66724G>T (p.Asp22242Tyr)
c.40618G>T (p.Asp13540Tyr)
c.40477G>T (p.Asp13493Tyr)
c.66520G>T (p.Asp22174Tyr)
c.61918G>T (p.Asp20640Tyr)
c.61915G>T (p.Asp20639Tyr)
c.58957G>T (p.Asp19653Tyr)
c.40573G>T (p.Asp13525Tyr)
c.62068G>T (p.Asp20690Tyr)
c.62065G>T (p.Asp20689Tyr)
c.61498G>T (p.Asp20500Tyr)
c.58840G>T (p.Asp19614Tyr)
c.58759G>T (p.Asp19587Tyr)
c.40522G>T (p.Asp13508Tyr)
c.30376G>T (p.Asp10126Tyr)
2g.178579570C=CA1310534550TTN,TTN-AS1c.59923G= (p.Asp19975=)
c.41008G= (p.Asp13670=)
c.40807G= (p.Asp13603=)
c.40432G= (p.Asp13478=)
c.67627G= (p.Asp22543=)
c.62704G= (p.Asp20902=)
n.596+8121C=
n.2044-3002C=
c.66724G= (p.Asp22242=)
c.40618G= (p.Asp13540=)
c.40477G= (p.Asp13493=)
c.66520G= (p.Asp22174=)
c.61918G= (p.Asp20640=)
c.61915G= (p.Asp20639=)
c.58957G= (p.Asp19653=)
c.40573G= (p.Asp13525=)
c.62068G= (p.Asp20690=)
c.62065G= (p.Asp20689=)
c.61498G= (p.Asp20500=)
c.58840G= (p.Asp19614=)
c.58759G= (p.Asp19587=)
c.40522G= (p.Asp13508=)
c.30376G= (p.Asp10126=)
2g.178579570C>GCA349423340TTN,TTN-AS1c.59923G>C (p.Asp19975His)
c.41008G>C (p.Asp13670His)
c.40807G>C (p.Asp13603His)
c.40432G>C (p.Asp13478His)
c.67627G>C (p.Asp22543His)
c.62704G>C (p.Asp20902His)
n.596+8121C>G
n.2044-3002C>G
c.66724G>C (p.Asp22242His)
c.40618G>C (p.Asp13540His)
c.40477G>C (p.Asp13493His)
c.66520G>C (p.Asp22174His)
c.61918G>C (p.Asp20640His)
c.61915G>C (p.Asp20639His)
c.58957G>C (p.Asp19653His)
c.40573G>C (p.Asp13525His)
c.62068G>C (p.Asp20690His)
c.62065G>C (p.Asp20689His)
c.61498G>C (p.Asp20500His)
c.58840G>C (p.Asp19614His)
c.58759G>C (p.Asp19587His)
c.40522G>C (p.Asp13508His)
c.30376G>C (p.Asp10126His)
2g.178579570C>TCA349423341TTN,TTN-AS1c.59923G>A (p.Asp19975Asn)
c.41008G>A (p.Asp13670Asn)
c.40807G>A (p.Asp13603Asn)
c.40432G>A (p.Asp13478Asn)
c.67627G>A (p.Asp22543Asn)
c.62704G>A (p.Asp20902Asn)
n.596+8121C>T
n.2044-3002C>T
c.66724G>A (p.Asp22242Asn)
c.40618G>A (p.Asp13540Asn)
c.40477G>A (p.Asp13493Asn)
c.66520G>A (p.Asp22174Asn)
c.61918G>A (p.Asp20640Asn)
c.61915G>A (p.Asp20639Asn)
c.58957G>A (p.Asp19653Asn)
c.40573G>A (p.Asp13525Asn)
c.62068G>A (p.Asp20690Asn)
c.62065G>A (p.Asp20689Asn)
c.61498G>A (p.Asp20500Asn)
c.58840G>A (p.Asp19614Asn)
c.58759G>A (p.Asp19587Asn)
c.40522G>A (p.Asp13508Asn)
c.30376G>A (p.Asp10126Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178579571C>ACA349423343TTN,TTN-AS1c.59922G>T (p.Arg19974Ser)
c.41007G>T (p.Arg13669Ser)
c.40806G>T (p.Arg13602Ser)
c.40431G>T (p.Arg13477Ser)
c.67626G>T (p.Arg22542Ser)
c.62703G>T (p.Arg20901Ser)
n.596+8122C>A
n.2044-3001C>A
c.66723G>T (p.Arg22241Ser)
c.40617G>T (p.Arg13539Ser)
c.40476G>T (p.Arg13492Ser)
c.66519G>T (p.Arg22173Ser)
c.61917G>T (p.Arg20639Ser)
c.61914G>T (p.Arg20638Ser)
c.58956G>T (p.Arg19652Ser)
c.40572G>T (p.Arg13524Ser)
c.62067G>T (p.Arg20689Ser)
c.62064G>T (p.Arg20688Ser)
c.61497G>T (p.Arg20499Ser)
c.58839G>T (p.Arg19613Ser)
c.58758G>T (p.Arg19586Ser)
c.40521G>T (p.Arg13507Ser)
c.30375G>T (p.Arg10125Ser)
2g.178579571C>GCA349423344TTN,TTN-AS1c.59922G>C (p.Arg19974Ser)
c.41007G>C (p.Arg13669Ser)
c.40806G>C (p.Arg13602Ser)
c.40431G>C (p.Arg13477Ser)
c.67626G>C (p.Arg22542Ser)
c.62703G>C (p.Arg20901Ser)
n.596+8122C>G
n.2044-3001C>G
c.66723G>C (p.Arg22241Ser)
c.40617G>C (p.Arg13539Ser)
c.40476G>C (p.Arg13492Ser)
c.66519G>C (p.Arg22173Ser)
c.61917G>C (p.Arg20639Ser)
c.61914G>C (p.Arg20638Ser)
c.58956G>C (p.Arg19652Ser)
c.40572G>C (p.Arg13524Ser)
c.62067G>C (p.Arg20689Ser)
c.62064G>C (p.Arg20688Ser)
c.61497G>C (p.Arg20499Ser)
c.58839G>C (p.Arg19613Ser)
c.58758G>C (p.Arg19586Ser)
c.40521G>C (p.Arg13507Ser)
c.30375G>C (p.Arg10125Ser)
2g.178579571C>TCA430261021TTN,TTN-AS1c.59922G>A (p.Arg19974=)
c.41007G>A (p.Arg13669=)
c.40806G>A (p.Arg13602=)
c.40431G>A (p.Arg13477=)
c.67626G>A (p.Arg22542=)
c.62703G>A (p.Arg20901=)
n.596+8122C>T
n.2044-3001C>T
c.66723G>A (p.Arg22241=)
c.40617G>A (p.Arg13539=)
c.40476G>A (p.Arg13492=)
c.66519G>A (p.Arg22173=)
c.61917G>A (p.Arg20639=)
c.61914G>A (p.Arg20638=)
c.58956G>A (p.Arg19652=)
c.40572G>A (p.Arg13524=)
c.62067G>A (p.Arg20689=)
c.62064G>A (p.Arg20688=)
c.61497G>A (p.Arg20499=)
c.58839G>A (p.Arg19613=)
c.58758G>A (p.Arg19586=)
c.40521G>A (p.Arg13507=)
c.30375G>A (p.Arg10125=)
2g.178579572C>ACA349423345TTN,TTN-AS1c.59921G>T (p.Arg19974Met)
c.41006G>T (p.Arg13669Met)
c.40805G>T (p.Arg13602Met)
c.40430G>T (p.Arg13477Met)
c.67625G>T (p.Arg22542Met)
c.62702G>T (p.Arg20901Met)
n.596+8123C>A
n.2044-3000C>A
c.66722G>T (p.Arg22241Met)
c.40616G>T (p.Arg13539Met)
c.40475G>T (p.Arg13492Met)
c.66518G>T (p.Arg22173Met)
c.61916G>T (p.Arg20639Met)
c.61913G>T (p.Arg20638Met)
c.58955G>T (p.Arg19652Met)
c.40571G>T (p.Arg13524Met)
c.62066G>T (p.Arg20689Met)
c.62063G>T (p.Arg20688Met)
c.61496G>T (p.Arg20499Met)
c.58838G>T (p.Arg19613Met)
c.58757G>T (p.Arg19586Met)
c.40520G>T (p.Arg13507Met)
c.30374G>T (p.Arg10125Met)
2g.178579572C>GCA349423346TTN,TTN-AS1c.59921G>C (p.Arg19974Thr)
c.41006G>C (p.Arg13669Thr)
c.40805G>C (p.Arg13602Thr)
c.40430G>C (p.Arg13477Thr)
c.67625G>C (p.Arg22542Thr)
c.62702G>C (p.Arg20901Thr)
n.596+8123C>G
n.2044-3000C>G
c.66722G>C (p.Arg22241Thr)
c.40616G>C (p.Arg13539Thr)
c.40475G>C (p.Arg13492Thr)
c.66518G>C (p.Arg22173Thr)
c.61916G>C (p.Arg20639Thr)
c.61913G>C (p.Arg20638Thr)
c.58955G>C (p.Arg19652Thr)
c.40571G>C (p.Arg13524Thr)
c.62066G>C (p.Arg20689Thr)
c.62063G>C (p.Arg20688Thr)
c.61496G>C (p.Arg20499Thr)
c.58838G>C (p.Arg19613Thr)
c.58757G>C (p.Arg19586Thr)
c.40520G>C (p.Arg13507Thr)
c.30374G>C (p.Arg10125Thr)
2g.178579572C>TCA349423347TTN,TTN-AS1c.59921G>A (p.Arg19974Lys)
c.41006G>A (p.Arg13669Lys)
c.40805G>A (p.Arg13602Lys)
c.40430G>A (p.Arg13477Lys)
c.67625G>A (p.Arg22542Lys)
c.62702G>A (p.Arg20901Lys)
n.596+8123C>T
n.2044-3000C>T
c.66722G>A (p.Arg22241Lys)
c.40616G>A (p.Arg13539Lys)
c.40475G>A (p.Arg13492Lys)
c.66518G>A (p.Arg22173Lys)
c.61916G>A (p.Arg20639Lys)
c.61913G>A (p.Arg20638Lys)
c.58955G>A (p.Arg19652Lys)
c.40571G>A (p.Arg13524Lys)
c.62066G>A (p.Arg20689Lys)
c.62063G>A (p.Arg20688Lys)
c.61496G>A (p.Arg20499Lys)
c.58838G>A (p.Arg19613Lys)
c.58757G>A (p.Arg19586Lys)
c.40520G>A (p.Arg13507Lys)
c.30374G>A (p.Arg10125Lys)
2g.178579573T>ACA349423349TTN,TTN-AS1c.59920A>T (p.Arg19974Trp)
c.41005A>T (p.Arg13669Trp)
c.40804A>T (p.Arg13602Trp)
c.40429A>T (p.Arg13477Trp)
c.67624A>T (p.Arg22542Trp)
c.62701A>T (p.Arg20901Trp)
n.596+8124T>A
n.2044-2999T>A
c.66721A>T (p.Arg22241Trp)
c.40615A>T (p.Arg13539Trp)
c.40474A>T (p.Arg13492Trp)
c.66517A>T (p.Arg22173Trp)
c.61915A>T (p.Arg20639Trp)
c.61912A>T (p.Arg20638Trp)
c.58954A>T (p.Arg19652Trp)
c.40570A>T (p.Arg13524Trp)
c.62065A>T (p.Arg20689Trp)
c.62062A>T (p.Arg20688Trp)
c.61495A>T (p.Arg20499Trp)
c.58837A>T (p.Arg19613Trp)
c.58756A>T (p.Arg19586Trp)
c.40519A>T (p.Arg13507Trp)
c.30373A>T (p.Arg10125Trp)
2g.178579573T>CCA349423348TTN,TTN-AS1c.59920A>G (p.Arg19974Gly)
c.41005A>G (p.Arg13669Gly)
c.40804A>G (p.Arg13602Gly)
c.40429A>G (p.Arg13477Gly)
c.67624A>G (p.Arg22542Gly)
c.62701A>G (p.Arg20901Gly)
n.596+8124T>C
n.2044-2999T>C
c.66721A>G (p.Arg22241Gly)
c.40615A>G (p.Arg13539Gly)
c.40474A>G (p.Arg13492Gly)
c.66517A>G (p.Arg22173Gly)
c.61915A>G (p.Arg20639Gly)
c.61912A>G (p.Arg20638Gly)
c.58954A>G (p.Arg19652Gly)
c.40570A>G (p.Arg13524Gly)
c.62065A>G (p.Arg20689Gly)
c.62062A>G (p.Arg20688Gly)
c.61495A>G (p.Arg20499Gly)
c.58837A>G (p.Arg19613Gly)
c.58756A>G (p.Arg19586Gly)
c.40519A>G (p.Arg13507Gly)
c.30373A>G (p.Arg10125Gly)
2g.178579573T>GCA430261026TTN,TTN-AS1c.59920A>C (p.Arg19974=)
c.41005A>C (p.Arg13669=)
c.40804A>C (p.Arg13602=)
c.40429A>C (p.Arg13477=)
c.67624A>C (p.Arg22542=)
c.62701A>C (p.Arg20901=)
n.596+8124T>G
n.2044-2999T>G
c.66721A>C (p.Arg22241=)
c.40615A>C (p.Arg13539=)
c.40474A>C (p.Arg13492=)
c.66517A>C (p.Arg22173=)
c.61915A>C (p.Arg20639=)
c.61912A>C (p.Arg20638=)
c.58954A>C (p.Arg19652=)
c.40570A>C (p.Arg13524=)
c.62065A>C (p.Arg20689=)
c.62062A>C (p.Arg20688=)
c.61495A>C (p.Arg20499=)
c.58837A>C (p.Arg19613=)
c.58756A>C (p.Arg19586=)
c.40519A>C (p.Arg13507=)
c.30373A>C (p.Arg10125=)
2g.178579574T>ACA430261032TTN,TTN-AS1c.59919A>T (p.Ala19973=)
c.41004A>T (p.Ala13668=)
c.40803A>T (p.Ala13601=)
c.40428A>T (p.Ala13476=)
c.67623A>T (p.Ala22541=)
c.62700A>T (p.Ala20900=)
n.596+8125T>A
n.2044-2998T>A
c.66720A>T (p.Ala22240=)
c.40614A>T (p.Ala13538=)
c.40473A>T (p.Ala13491=)
c.66516A>T (p.Ala22172=)
c.61914A>T (p.Ala20638=)
c.61911A>T (p.Ala20637=)
c.58953A>T (p.Ala19651=)
c.40569A>T (p.Ala13523=)
c.62064A>T (p.Ala20688=)
c.62061A>T (p.Ala20687=)
c.61494A>T (p.Ala20498=)
c.58836A>T (p.Ala19612=)
c.58755A>T (p.Ala19585=)
c.40518A>T (p.Ala13506=)
c.30372A>T (p.Ala10124=)
2g.178579574T>CCA430261035TTN,TTN-AS1c.59919A>G (p.Ala19973=)
c.41004A>G (p.Ala13668=)
c.40803A>G (p.Ala13601=)
c.40428A>G (p.Ala13476=)
c.67623A>G (p.Ala22541=)
c.62700A>G (p.Ala20900=)
n.596+8125T>C
n.2044-2998T>C
c.66720A>G (p.Ala22240=)
c.40614A>G (p.Ala13538=)
c.40473A>G (p.Ala13491=)
c.66516A>G (p.Ala22172=)
c.61914A>G (p.Ala20638=)
c.61911A>G (p.Ala20637=)
c.58953A>G (p.Ala19651=)
c.40569A>G (p.Ala13523=)
c.62064A>G (p.Ala20688=)
c.62061A>G (p.Ala20687=)
c.61494A>G (p.Ala20498=)
c.58836A>G (p.Ala19612=)
c.58755A>G (p.Ala19585=)
c.40518A>G (p.Ala13506=)
c.30372A>G (p.Ala10124=)
2g.178579574T>GCA430261036TTN,TTN-AS1c.59919A>C (p.Ala19973=)
c.41004A>C (p.Ala13668=)
c.40803A>C (p.Ala13601=)
c.40428A>C (p.Ala13476=)
c.67623A>C (p.Ala22541=)
c.62700A>C (p.Ala20900=)
n.596+8125T>G
n.2044-2998T>G
c.66720A>C (p.Ala22240=)
c.40614A>C (p.Ala13538=)
c.40473A>C (p.Ala13491=)
c.66516A>C (p.Ala22172=)
c.61914A>C (p.Ala20638=)
c.61911A>C (p.Ala20637=)
c.58953A>C (p.Ala19651=)
c.40569A>C (p.Ala13523=)
c.62064A>C (p.Ala20688=)
c.62061A>C (p.Ala20687=)
c.61494A>C (p.Ala20498=)
c.58836A>C (p.Ala19612=)
c.58755A>C (p.Ala19585=)
c.40518A>C (p.Ala13506=)
c.30372A>C (p.Ala10124=)
2g.178579575G>ACA349423350TTN,TTN-AS1c.59918C>T (p.Ala19973Val)
c.41003C>T (p.Ala13668Val)
c.40802C>T (p.Ala13601Val)
c.40427C>T (p.Ala13476Val)
c.67622C>T (p.Ala22541Val)
c.62699C>T (p.Ala20900Val)
n.596+8126G>A
n.2044-2997G>A
c.66719C>T (p.Ala22240Val)
c.40613C>T (p.Ala13538Val)
c.40472C>T (p.Ala13491Val)
c.66515C>T (p.Ala22172Val)
c.61913C>T (p.Ala20638Val)
c.61910C>T (p.Ala20637Val)
c.58952C>T (p.Ala19651Val)
c.40568C>T (p.Ala13523Val)
c.62063C>T (p.Ala20688Val)
c.62060C>T (p.Ala20687Val)
c.61493C>T (p.Ala20498Val)
c.58835C>T (p.Ala19612Val)
c.58754C>T (p.Ala19585Val)
c.40517C>T (p.Ala13506Val)
c.30371C>T (p.Ala10124Val)
2g.178579575G>CCA349423351TTN,TTN-AS1c.59918C>G (p.Ala19973Gly)
c.41003C>G (p.Ala13668Gly)
c.40802C>G (p.Ala13601Gly)
c.40427C>G (p.Ala13476Gly)
c.67622C>G (p.Ala22541Gly)
c.62699C>G (p.Ala20900Gly)
n.596+8126G>C
n.2044-2997G>C
c.66719C>G (p.Ala22240Gly)
c.40613C>G (p.Ala13538Gly)
c.40472C>G (p.Ala13491Gly)
c.66515C>G (p.Ala22172Gly)
c.61913C>G (p.Ala20638Gly)
c.61910C>G (p.Ala20637Gly)
c.58952C>G (p.Ala19651Gly)
c.40568C>G (p.Ala13523Gly)
c.62063C>G (p.Ala20688Gly)
c.62060C>G (p.Ala20687Gly)
c.61493C>G (p.Ala20498Gly)
c.58835C>G (p.Ala19612Gly)
c.58754C>G (p.Ala19585Gly)
c.40517C>G (p.Ala13506Gly)
c.30371C>G (p.Ala10124Gly)
2g.178579575G>TCA349423352TTN,TTN-AS1c.59918C>A (p.Ala19973Glu)
c.41003C>A (p.Ala13668Glu)
c.40802C>A (p.Ala13601Glu)
c.40427C>A (p.Ala13476Glu)
c.67622C>A (p.Ala22541Glu)
c.62699C>A (p.Ala20900Glu)
n.596+8126G>T
n.2044-2997G>T
c.66719C>A (p.Ala22240Glu)
c.40613C>A (p.Ala13538Glu)
c.40472C>A (p.Ala13491Glu)
c.66515C>A (p.Ala22172Glu)
c.61913C>A (p.Ala20638Glu)
c.61910C>A (p.Ala20637Glu)
c.58952C>A (p.Ala19651Glu)
c.40568C>A (p.Ala13523Glu)
c.62063C>A (p.Ala20688Glu)
c.62060C>A (p.Ala20687Glu)
c.61493C>A (p.Ala20498Glu)
c.58835C>A (p.Ala19612Glu)
c.58754C>A (p.Ala19585Glu)
c.40517C>A (p.Ala13506Glu)
c.30371C>A (p.Ala10124Glu)
2g.178579576C>ACA349423353TTN,TTN-AS1c.59917G>T (p.Ala19973Ser)
c.41002G>T (p.Ala13668Ser)
c.40801G>T (p.Ala13601Ser)
c.40426G>T (p.Ala13476Ser)
c.67621G>T (p.Ala22541Ser)
c.62698G>T (p.Ala20900Ser)
n.596+8127C>A
n.2044-2996C>A
c.66718G>T (p.Ala22240Ser)
c.40612G>T (p.Ala13538Ser)
c.40471G>T (p.Ala13491Ser)
c.66514G>T (p.Ala22172Ser)
c.61912G>T (p.Ala20638Ser)
c.61909G>T (p.Ala20637Ser)
c.58951G>T (p.Ala19651Ser)
c.40567G>T (p.Ala13523Ser)
c.62062G>T (p.Ala20688Ser)
c.62059G>T (p.Ala20687Ser)
c.61492G>T (p.Ala20498Ser)
c.58834G>T (p.Ala19612Ser)
c.58753G>T (p.Ala19585Ser)
c.40516G>T (p.Ala13506Ser)
c.30370G>T (p.Ala10124Ser)
2g.178579576C=CA1310534552TTN,TTN-AS1c.59917G= (p.Ala19973=)
c.41002G= (p.Ala13668=)
c.40801G= (p.Ala13601=)
c.40426G= (p.Ala13476=)
c.67621G= (p.Ala22541=)
c.62698G= (p.Ala20900=)
n.596+8127C=
n.2044-2996C=
c.66718G= (p.Ala22240=)
c.40612G= (p.Ala13538=)
c.40471G= (p.Ala13491=)
c.66514G= (p.Ala22172=)
c.61912G= (p.Ala20638=)
c.61909G= (p.Ala20637=)
c.58951G= (p.Ala19651=)
c.40567G= (p.Ala13523=)
c.62062G= (p.Ala20688=)
c.62059G= (p.Ala20687=)
c.61492G= (p.Ala20498=)
c.58834G= (p.Ala19612=)
c.58753G= (p.Ala19585=)
c.40516G= (p.Ala13506=)
c.30370G= (p.Ala10124=)
2g.178579576C>GCA349423354TTN,TTN-AS1c.59917G>C (p.Ala19973Pro)
c.41002G>C (p.Ala13668Pro)
c.40801G>C (p.Ala13601Pro)
c.40426G>C (p.Ala13476Pro)
c.67621G>C (p.Ala22541Pro)
c.62698G>C (p.Ala20900Pro)
n.596+8127C>G
n.2044-2996C>G
c.66718G>C (p.Ala22240Pro)
c.40612G>C (p.Ala13538Pro)
c.40471G>C (p.Ala13491Pro)
c.66514G>C (p.Ala22172Pro)
c.61912G>C (p.Ala20638Pro)
c.61909G>C (p.Ala20637Pro)
c.58951G>C (p.Ala19651Pro)
c.40567G>C (p.Ala13523Pro)
c.62062G>C (p.Ala20688Pro)
c.62059G>C (p.Ala20687Pro)
c.61492G>C (p.Ala20498Pro)
c.58834G>C (p.Ala19612Pro)
c.58753G>C (p.Ala19585Pro)
c.40516G>C (p.Ala13506Pro)
c.30370G>C (p.Ala10124Pro)
2g.178579576C>TCA349423355TTN,TTN-AS1c.59917G>A (p.Ala19973Thr)
c.41002G>A (p.Ala13668Thr)
c.40801G>A (p.Ala13601Thr)
c.40426G>A (p.Ala13476Thr)
c.67621G>A (p.Ala22541Thr)
c.62698G>A (p.Ala20900Thr)
n.596+8127C>T
n.2044-2996C>T
c.66718G>A (p.Ala22240Thr)
c.40612G>A (p.Ala13538Thr)
c.40471G>A (p.Ala13491Thr)
c.66514G>A (p.Ala22172Thr)
c.61912G>A (p.Ala20638Thr)
c.61909G>A (p.Ala20637Thr)
c.58951G>A (p.Ala19651Thr)
c.40567G>A (p.Ala13523Thr)
c.62062G>A (p.Ala20688Thr)
c.62059G>A (p.Ala20687Thr)
c.61492G>A (p.Ala20498Thr)
c.58834G>A (p.Ala19612Thr)
c.58753G>A (p.Ala19585Thr)
c.40516G>A (p.Ala13506Thr)
c.30370G>A (p.Ala10124Thr)
 dbSNP
2g.178579577C>ACA430261062TTN,TTN-AS1c.59916G>T (p.Val19972=)
c.41001G>T (p.Val13667=)
c.40800G>T (p.Val13600=)
c.40425G>T (p.Val13475=)
c.67620G>T (p.Val22540=)
c.62697G>T (p.Val20899=)
n.596+8128C>A
n.2044-2995C>A
c.66717G>T (p.Val22239=)
c.40611G>T (p.Val13537=)
c.40470G>T (p.Val13490=)
c.66513G>T (p.Val22171=)
c.61911G>T (p.Val20637=)
c.61908G>T (p.Val20636=)
c.58950G>T (p.Val19650=)
c.40566G>T (p.Val13522=)
c.62061G>T (p.Val20687=)
c.62058G>T (p.Val20686=)
c.61491G>T (p.Val20497=)
c.58833G>T (p.Val19611=)
c.58752G>T (p.Val19584=)
c.40515G>T (p.Val13505=)
c.30369G>T (p.Val10123=)
2g.178579577C=CA1310534556TTN,TTN-AS1c.59916G= (p.Val19972=)
c.41001G= (p.Val13667=)
c.40800G= (p.Val13600=)
c.40425G= (p.Val13475=)
c.67620G= (p.Val22540=)
c.62697G= (p.Val20899=)
n.596+8128C=
n.2044-2995C=
c.66717G= (p.Val22239=)
c.40611G= (p.Val13537=)
c.40470G= (p.Val13490=)
c.66513G= (p.Val22171=)
c.61911G= (p.Val20637=)
c.61908G= (p.Val20636=)
c.58950G= (p.Val19650=)
c.40566G= (p.Val13522=)
c.62061G= (p.Val20687=)
c.62058G= (p.Val20686=)
c.61491G= (p.Val20497=)
c.58833G= (p.Val19611=)
c.58752G= (p.Val19584=)
c.40515G= (p.Val13505=)
c.30369G= (p.Val10123=)
2g.178579577C>GCA430261064TTN,TTN-AS1c.59916G>C (p.Val19972=)
c.41001G>C (p.Val13667=)
c.40800G>C (p.Val13600=)
c.40425G>C (p.Val13475=)
c.67620G>C (p.Val22540=)
c.62697G>C (p.Val20899=)
n.596+8128C>G
n.2044-2995C>G
c.66717G>C (p.Val22239=)
c.40611G>C (p.Val13537=)
c.40470G>C (p.Val13490=)
c.66513G>C (p.Val22171=)
c.61911G>C (p.Val20637=)
c.61908G>C (p.Val20636=)
c.58950G>C (p.Val19650=)
c.40566G>C (p.Val13522=)
c.62061G>C (p.Val20687=)
c.62058G>C (p.Val20686=)
c.61491G>C (p.Val20497=)
c.58833G>C (p.Val19611=)
c.58752G>C (p.Val19584=)
c.40515G>C (p.Val13505=)
c.30369G>C (p.Val10123=)
2g.178579577C>TCA430261067TTN,TTN-AS1c.59916G>A (p.Val19972=)
c.41001G>A (p.Val13667=)
c.40800G>A (p.Val13600=)
c.40425G>A (p.Val13475=)
c.67620G>A (p.Val22540=)
c.62697G>A (p.Val20899=)
n.596+8128C>T
n.2044-2995C>T
c.66717G>A (p.Val22239=)
c.40611G>A (p.Val13537=)
c.40470G>A (p.Val13490=)
c.66513G>A (p.Val22171=)
c.61911G>A (p.Val20637=)
c.61908G>A (p.Val20636=)
c.58950G>A (p.Val19650=)
c.40566G>A (p.Val13522=)
c.62061G>A (p.Val20687=)
c.62058G>A (p.Val20686=)
c.61491G>A (p.Val20497=)
c.58833G>A (p.Val19611=)
c.58752G>A (p.Val19584=)
c.40515G>A (p.Val13505=)
c.30369G>A (p.Val10123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178579578A>CCA349423356TTN,TTN-AS1c.59915T>G (p.Val19972Gly)
c.41000T>G (p.Val13667Gly)
c.40799T>G (p.Val13600Gly)
c.40424T>G (p.Val13475Gly)
c.67619T>G (p.Val22540Gly)
c.62696T>G (p.Val20899Gly)
n.596+8129A>C
n.2044-2994A>C
c.66716T>G (p.Val22239Gly)
c.40610T>G (p.Val13537Gly)
c.40469T>G (p.Val13490Gly)
c.66512T>G (p.Val22171Gly)
c.61910T>G (p.Val20637Gly)
c.61907T>G (p.Val20636Gly)
c.58949T>G (p.Val19650Gly)
c.40565T>G (p.Val13522Gly)
c.62060T>G (p.Val20687Gly)
c.62057T>G (p.Val20686Gly)
c.61490T>G (p.Val20497Gly)
c.58832T>G (p.Val19611Gly)
c.58751T>G (p.Val19584Gly)
c.40514T>G (p.Val13505Gly)
c.30368T>G (p.Val10123Gly)

Number of alleles fetched