Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618044A=CA1310550888TTN,TTN-AS1c.39603T= (p.Asp13201=)
c.20688T= (p.Asp6896=)
c.20487T= (p.Asp6829=)
c.20112T= (p.Asp6704=)
c.47307T= (p.Asp15769=)
c.42384T= (p.Asp14128=)
n.1605-1709A=
c.46404T= (p.Asp15468=)
c.20298T= (p.Asp6766=)
c.20157T= (p.Asp6719=)
c.46200T= (p.Asp15400=)
c.41598T= (p.Asp13866=)
c.41595T= (p.Asp13865=)
c.38637T= (p.Asp12879=)
c.20253T= (p.Asp6751=)
c.41748T= (p.Asp13916=)
c.41745T= (p.Asp13915=)
c.41178T= (p.Asp13726=)
c.38520T= (p.Asp12840=)
c.38439T= (p.Asp12813=)
c.20202T= (p.Asp6734=)
c.10056T= (p.Asp3352=)
2g.178618044A>CCA349618077TTN,TTN-AS1c.39603T>G (p.Asp13201Glu)
c.20688T>G (p.Asp6896Glu)
c.20487T>G (p.Asp6829Glu)
c.20112T>G (p.Asp6704Glu)
c.47307T>G (p.Asp15769Glu)
c.42384T>G (p.Asp14128Glu)
n.1605-1709A>C
c.46404T>G (p.Asp15468Glu)
c.20298T>G (p.Asp6766Glu)
c.20157T>G (p.Asp6719Glu)
c.46200T>G (p.Asp15400Glu)
c.41598T>G (p.Asp13866Glu)
c.41595T>G (p.Asp13865Glu)
c.38637T>G (p.Asp12879Glu)
c.20253T>G (p.Asp6751Glu)
c.41748T>G (p.Asp13916Glu)
c.41745T>G (p.Asp13915Glu)
c.41178T>G (p.Asp13726Glu)
c.38520T>G (p.Asp12840Glu)
c.38439T>G (p.Asp12813Glu)
c.20202T>G (p.Asp6734Glu)
c.10056T>G (p.Asp3352Glu)
2g.178618044A>GCA1995067TTN,TTN-AS1c.39603T>C (p.Asp13201=)
c.20688T>C (p.Asp6896=)
c.20487T>C (p.Asp6829=)
c.20112T>C (p.Asp6704=)
c.47307T>C (p.Asp15769=)
c.42384T>C (p.Asp14128=)
n.1605-1709A>G
c.46404T>C (p.Asp15468=)
c.20298T>C (p.Asp6766=)
c.20157T>C (p.Asp6719=)
c.46200T>C (p.Asp15400=)
c.41598T>C (p.Asp13866=)
c.41595T>C (p.Asp13865=)
c.38637T>C (p.Asp12879=)
c.20253T>C (p.Asp6751=)
c.41748T>C (p.Asp13916=)
c.41745T>C (p.Asp13915=)
c.41178T>C (p.Asp13726=)
c.38520T>C (p.Asp12840=)
c.38439T>C (p.Asp12813=)
c.20202T>C (p.Asp6734=)
c.10056T>C (p.Asp3352=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618044A>TCA349618080TTN,TTN-AS1c.39603T>A (p.Asp13201Glu)
c.20688T>A (p.Asp6896Glu)
c.20487T>A (p.Asp6829Glu)
c.20112T>A (p.Asp6704Glu)
c.47307T>A (p.Asp15769Glu)
c.42384T>A (p.Asp14128Glu)
n.1605-1709A>T
c.46404T>A (p.Asp15468Glu)
c.20298T>A (p.Asp6766Glu)
c.20157T>A (p.Asp6719Glu)
c.46200T>A (p.Asp15400Glu)
c.41598T>A (p.Asp13866Glu)
c.41595T>A (p.Asp13865Glu)
c.38637T>A (p.Asp12879Glu)
c.20253T>A (p.Asp6751Glu)
c.41748T>A (p.Asp13916Glu)
c.41745T>A (p.Asp13915Glu)
c.41178T>A (p.Asp13726Glu)
c.38520T>A (p.Asp12840Glu)
c.38439T>A (p.Asp12813Glu)
c.20202T>A (p.Asp6734Glu)
c.10056T>A (p.Asp3352Glu)
2g.178618045T>ACA349618084TTN,TTN-AS1c.39602A>T (p.Asp13201Val)
c.20687A>T (p.Asp6896Val)
c.20486A>T (p.Asp6829Val)
c.20111A>T (p.Asp6704Val)
c.47306A>T (p.Asp15769Val)
c.42383A>T (p.Asp14128Val)
n.1605-1708T>A
c.46403A>T (p.Asp15468Val)
c.20297A>T (p.Asp6766Val)
c.20156A>T (p.Asp6719Val)
c.46199A>T (p.Asp15400Val)
c.41597A>T (p.Asp13866Val)
c.41594A>T (p.Asp13865Val)
c.38636A>T (p.Asp12879Val)
c.20252A>T (p.Asp6751Val)
c.41747A>T (p.Asp13916Val)
c.41744A>T (p.Asp13915Val)
c.41177A>T (p.Asp13726Val)
c.38519A>T (p.Asp12840Val)
c.38438A>T (p.Asp12813Val)
c.20201A>T (p.Asp6734Val)
c.10055A>T (p.Asp3352Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178618045T>CCA349618087TTN,TTN-AS1c.39602A>G (p.Asp13201Gly)
c.20687A>G (p.Asp6896Gly)
c.20486A>G (p.Asp6829Gly)
c.20111A>G (p.Asp6704Gly)
c.47306A>G (p.Asp15769Gly)
c.42383A>G (p.Asp14128Gly)
n.1605-1708T>C
c.46403A>G (p.Asp15468Gly)
c.20297A>G (p.Asp6766Gly)
c.20156A>G (p.Asp6719Gly)
c.46199A>G (p.Asp15400Gly)
c.41597A>G (p.Asp13866Gly)
c.41594A>G (p.Asp13865Gly)
c.38636A>G (p.Asp12879Gly)
c.20252A>G (p.Asp6751Gly)
c.41747A>G (p.Asp13916Gly)
c.41744A>G (p.Asp13915Gly)
c.41177A>G (p.Asp13726Gly)
c.38519A>G (p.Asp12840Gly)
c.38438A>G (p.Asp12813Gly)
c.20201A>G (p.Asp6734Gly)
c.10055A>G (p.Asp3352Gly)
2g.178618045T>GCA349618090TTN,TTN-AS1c.39602A>C (p.Asp13201Ala)
c.20687A>C (p.Asp6896Ala)
c.20486A>C (p.Asp6829Ala)
c.20111A>C (p.Asp6704Ala)
c.47306A>C (p.Asp15769Ala)
c.42383A>C (p.Asp14128Ala)
n.1605-1708T>G
c.46403A>C (p.Asp15468Ala)
c.20297A>C (p.Asp6766Ala)
c.20156A>C (p.Asp6719Ala)
c.46199A>C (p.Asp15400Ala)
c.41597A>C (p.Asp13866Ala)
c.41594A>C (p.Asp13865Ala)
c.38636A>C (p.Asp12879Ala)
c.20252A>C (p.Asp6751Ala)
c.41747A>C (p.Asp13916Ala)
c.41744A>C (p.Asp13915Ala)
c.41177A>C (p.Asp13726Ala)
c.38519A>C (p.Asp12840Ala)
c.38438A>C (p.Asp12813Ala)
c.20201A>C (p.Asp6734Ala)
c.10055A>C (p.Asp3352Ala)
2g.178618046C>ACA349618092TTN,TTN-AS1c.39601G>T (p.Asp13201Tyr)
c.20686G>T (p.Asp6896Tyr)
c.20485G>T (p.Asp6829Tyr)
c.20110G>T (p.Asp6704Tyr)
c.47305G>T (p.Asp15769Tyr)
c.42382G>T (p.Asp14128Tyr)
n.1605-1707C>A
c.46402G>T (p.Asp15468Tyr)
c.20296G>T (p.Asp6766Tyr)
c.20155G>T (p.Asp6719Tyr)
c.46198G>T (p.Asp15400Tyr)
c.41596G>T (p.Asp13866Tyr)
c.41593G>T (p.Asp13865Tyr)
c.38635G>T (p.Asp12879Tyr)
c.20251G>T (p.Asp6751Tyr)
c.41746G>T (p.Asp13916Tyr)
c.41743G>T (p.Asp13915Tyr)
c.41176G>T (p.Asp13726Tyr)
c.38518G>T (p.Asp12840Tyr)
c.38437G>T (p.Asp12813Tyr)
c.20200G>T (p.Asp6734Tyr)
c.10054G>T (p.Asp3352Tyr)
2g.178618046C>GCA349618094TTN,TTN-AS1c.39601G>C (p.Asp13201His)
c.20686G>C (p.Asp6896His)
c.20485G>C (p.Asp6829His)
c.20110G>C (p.Asp6704His)
c.47305G>C (p.Asp15769His)
c.42382G>C (p.Asp14128His)
n.1605-1707C>G
c.46402G>C (p.Asp15468His)
c.20296G>C (p.Asp6766His)
c.20155G>C (p.Asp6719His)
c.46198G>C (p.Asp15400His)
c.41596G>C (p.Asp13866His)
c.41593G>C (p.Asp13865His)
c.38635G>C (p.Asp12879His)
c.20251G>C (p.Asp6751His)
c.41746G>C (p.Asp13916His)
c.41743G>C (p.Asp13915His)
c.41176G>C (p.Asp13726His)
c.38518G>C (p.Asp12840His)
c.38437G>C (p.Asp12813His)
c.20200G>C (p.Asp6734His)
c.10054G>C (p.Asp3352His)
 gnomAD v4
2g.178618046C>TCA349618097TTN,TTN-AS1c.39601G>A (p.Asp13201Asn)
c.20686G>A (p.Asp6896Asn)
c.20485G>A (p.Asp6829Asn)
c.20110G>A (p.Asp6704Asn)
c.47305G>A (p.Asp15769Asn)
c.42382G>A (p.Asp14128Asn)
n.1605-1707C>T
c.46402G>A (p.Asp15468Asn)
c.20296G>A (p.Asp6766Asn)
c.20155G>A (p.Asp6719Asn)
c.46198G>A (p.Asp15400Asn)
c.41596G>A (p.Asp13866Asn)
c.41593G>A (p.Asp13865Asn)
c.38635G>A (p.Asp12879Asn)
c.20251G>A (p.Asp6751Asn)
c.41746G>A (p.Asp13916Asn)
c.41743G>A (p.Asp13915Asn)
c.41176G>A (p.Asp13726Asn)
c.38518G>A (p.Asp12840Asn)
c.38437G>A (p.Asp12813Asn)
c.20200G>A (p.Asp6734Asn)
c.10054G>A (p.Asp3352Asn)
2g.178618047A>CCA430274458TTN,TTN-AS1c.39600T>G (p.Thr13200=)
c.20685T>G (p.Thr6895=)
c.20484T>G (p.Thr6828=)
c.20109T>G (p.Thr6703=)
c.47304T>G (p.Thr15768=)
c.42381T>G (p.Thr14127=)
n.1605-1706A>C
c.46401T>G (p.Thr15467=)
c.20295T>G (p.Thr6765=)
c.20154T>G (p.Thr6718=)
c.46197T>G (p.Thr15399=)
c.41595T>G (p.Thr13865=)
c.41592T>G (p.Thr13864=)
c.38634T>G (p.Thr12878=)
c.20250T>G (p.Thr6750=)
c.41745T>G (p.Thr13915=)
c.41742T>G (p.Thr13914=)
c.41175T>G (p.Thr13725=)
c.38517T>G (p.Thr12839=)
c.38436T>G (p.Thr12812=)
c.20199T>G (p.Thr6733=)
c.10053T>G (p.Thr3351=)
2g.178618047A>GCA430274459TTN,TTN-AS1c.39600T>C (p.Thr13200=)
c.20685T>C (p.Thr6895=)
c.20484T>C (p.Thr6828=)
c.20109T>C (p.Thr6703=)
c.47304T>C (p.Thr15768=)
c.42381T>C (p.Thr14127=)
n.1605-1706A>G
c.46401T>C (p.Thr15467=)
c.20295T>C (p.Thr6765=)
c.20154T>C (p.Thr6718=)
c.46197T>C (p.Thr15399=)
c.41595T>C (p.Thr13865=)
c.41592T>C (p.Thr13864=)
c.38634T>C (p.Thr12878=)
c.20250T>C (p.Thr6750=)
c.41745T>C (p.Thr13915=)
c.41742T>C (p.Thr13914=)
c.41175T>C (p.Thr13725=)
c.38517T>C (p.Thr12839=)
c.38436T>C (p.Thr12812=)
c.20199T>C (p.Thr6733=)
c.10053T>C (p.Thr3351=)
2g.178618047A>TCA430274460TTN,TTN-AS1c.39600T>A (p.Thr13200=)
c.20685T>A (p.Thr6895=)
c.20484T>A (p.Thr6828=)
c.20109T>A (p.Thr6703=)
c.47304T>A (p.Thr15768=)
c.42381T>A (p.Thr14127=)
n.1605-1706A>T
c.46401T>A (p.Thr15467=)
c.20295T>A (p.Thr6765=)
c.20154T>A (p.Thr6718=)
c.46197T>A (p.Thr15399=)
c.41595T>A (p.Thr13865=)
c.41592T>A (p.Thr13864=)
c.38634T>A (p.Thr12878=)
c.20250T>A (p.Thr6750=)
c.41745T>A (p.Thr13915=)
c.41742T>A (p.Thr13914=)
c.41175T>A (p.Thr13725=)
c.38517T>A (p.Thr12839=)
c.38436T>A (p.Thr12812=)
c.20199T>A (p.Thr6733=)
c.10053T>A (p.Thr3351=)
 gnomAD v4
2g.178618048G>ACA349618102TTN,TTN-AS1c.39599C>T (p.Thr13200Ile)
c.20684C>T (p.Thr6895Ile)
c.20483C>T (p.Thr6828Ile)
c.20108C>T (p.Thr6703Ile)
c.47303C>T (p.Thr15768Ile)
c.42380C>T (p.Thr14127Ile)
n.1605-1705G>A
c.46400C>T (p.Thr15467Ile)
c.20294C>T (p.Thr6765Ile)
c.20153C>T (p.Thr6718Ile)
c.46196C>T (p.Thr15399Ile)
c.41594C>T (p.Thr13865Ile)
c.41591C>T (p.Thr13864Ile)
c.38633C>T (p.Thr12878Ile)
c.20249C>T (p.Thr6750Ile)
c.41744C>T (p.Thr13915Ile)
c.41741C>T (p.Thr13914Ile)
c.41174C>T (p.Thr13725Ile)
c.38516C>T (p.Thr12839Ile)
c.38435C>T (p.Thr12812Ile)
c.20198C>T (p.Thr6733Ile)
c.10052C>T (p.Thr3351Ile)
2g.178618048G>CCA349618104TTN,TTN-AS1c.39599C>G (p.Thr13200Ser)
c.20684C>G (p.Thr6895Ser)
c.20483C>G (p.Thr6828Ser)
c.20108C>G (p.Thr6703Ser)
c.47303C>G (p.Thr15768Ser)
c.42380C>G (p.Thr14127Ser)
n.1605-1705G>C
c.46400C>G (p.Thr15467Ser)
c.20294C>G (p.Thr6765Ser)
c.20153C>G (p.Thr6718Ser)
c.46196C>G (p.Thr15399Ser)
c.41594C>G (p.Thr13865Ser)
c.41591C>G (p.Thr13864Ser)
c.38633C>G (p.Thr12878Ser)
c.20249C>G (p.Thr6750Ser)
c.41744C>G (p.Thr13915Ser)
c.41741C>G (p.Thr13914Ser)
c.41174C>G (p.Thr13725Ser)
c.38516C>G (p.Thr12839Ser)
c.38435C>G (p.Thr12812Ser)
c.20198C>G (p.Thr6733Ser)
c.10052C>G (p.Thr3351Ser)
2g.178618048G>TCA349618100TTN,TTN-AS1c.39599C>A (p.Thr13200Asn)
c.20684C>A (p.Thr6895Asn)
c.20483C>A (p.Thr6828Asn)
c.20108C>A (p.Thr6703Asn)
c.47303C>A (p.Thr15768Asn)
c.42380C>A (p.Thr14127Asn)
n.1605-1705G>T
c.46400C>A (p.Thr15467Asn)
c.20294C>A (p.Thr6765Asn)
c.20153C>A (p.Thr6718Asn)
c.46196C>A (p.Thr15399Asn)
c.41594C>A (p.Thr13865Asn)
c.41591C>A (p.Thr13864Asn)
c.38633C>A (p.Thr12878Asn)
c.20249C>A (p.Thr6750Asn)
c.41744C>A (p.Thr13915Asn)
c.41741C>A (p.Thr13914Asn)
c.41174C>A (p.Thr13725Asn)
c.38516C>A (p.Thr12839Asn)
c.38435C>A (p.Thr12812Asn)
c.20198C>A (p.Thr6733Asn)
c.10052C>A (p.Thr3351Asn)
2g.178618049T>ACA349618108TTN,TTN-AS1c.39598A>T (p.Thr13200Ser)
c.20683A>T (p.Thr6895Ser)
c.20482A>T (p.Thr6828Ser)
c.20107A>T (p.Thr6703Ser)
c.47302A>T (p.Thr15768Ser)
c.42379A>T (p.Thr14127Ser)
n.1605-1704T>A
c.46399A>T (p.Thr15467Ser)
c.20293A>T (p.Thr6765Ser)
c.20152A>T (p.Thr6718Ser)
c.46195A>T (p.Thr15399Ser)
c.41593A>T (p.Thr13865Ser)
c.41590A>T (p.Thr13864Ser)
c.38632A>T (p.Thr12878Ser)
c.20248A>T (p.Thr6750Ser)
c.41743A>T (p.Thr13915Ser)
c.41740A>T (p.Thr13914Ser)
c.41173A>T (p.Thr13725Ser)
c.38515A>T (p.Thr12839Ser)
c.38434A>T (p.Thr12812Ser)
c.20197A>T (p.Thr6733Ser)
c.10051A>T (p.Thr3351Ser)
2g.178618049T>CCA349618118TTN,TTN-AS1c.39598A>G (p.Thr13200Ala)
c.20683A>G (p.Thr6895Ala)
c.20482A>G (p.Thr6828Ala)
c.20107A>G (p.Thr6703Ala)
c.47302A>G (p.Thr15768Ala)
c.42379A>G (p.Thr14127Ala)
n.1605-1704T>C
c.46399A>G (p.Thr15467Ala)
c.20293A>G (p.Thr6765Ala)
c.20152A>G (p.Thr6718Ala)
c.46195A>G (p.Thr15399Ala)
c.41593A>G (p.Thr13865Ala)
c.41590A>G (p.Thr13864Ala)
c.38632A>G (p.Thr12878Ala)
c.20248A>G (p.Thr6750Ala)
c.41743A>G (p.Thr13915Ala)
c.41740A>G (p.Thr13914Ala)
c.41173A>G (p.Thr13725Ala)
c.38515A>G (p.Thr12839Ala)
c.38434A>G (p.Thr12812Ala)
c.20197A>G (p.Thr6733Ala)
c.10051A>G (p.Thr3351Ala)
 gnomAD v4
2g.178618049T>GCA349618121TTN,TTN-AS1c.39598A>C (p.Thr13200Pro)
c.20683A>C (p.Thr6895Pro)
c.20482A>C (p.Thr6828Pro)
c.20107A>C (p.Thr6703Pro)
c.47302A>C (p.Thr15768Pro)
c.42379A>C (p.Thr14127Pro)
n.1605-1704T>G
c.46399A>C (p.Thr15467Pro)
c.20293A>C (p.Thr6765Pro)
c.20152A>C (p.Thr6718Pro)
c.46195A>C (p.Thr15399Pro)
c.41593A>C (p.Thr13865Pro)
c.41590A>C (p.Thr13864Pro)
c.38632A>C (p.Thr12878Pro)
c.20248A>C (p.Thr6750Pro)
c.41743A>C (p.Thr13915Pro)
c.41740A>C (p.Thr13914Pro)
c.41173A>C (p.Thr13725Pro)
c.38515A>C (p.Thr12839Pro)
c.38434A>C (p.Thr12812Pro)
c.20197A>C (p.Thr6733Pro)
c.10051A>C (p.Thr3351Pro)
2g.178618050G>ACA430274470TTN,TTN-AS1c.39597C>T (p.Ile13199=)
c.20682C>T (p.Ile6894=)
c.20481C>T (p.Ile6827=)
c.20106C>T (p.Ile6702=)
c.47301C>T (p.Ile15767=)
c.42378C>T (p.Ile14126=)
n.1605-1703G>A
c.46398C>T (p.Ile15466=)
c.20292C>T (p.Ile6764=)
c.20151C>T (p.Ile6717=)
c.46194C>T (p.Ile15398=)
c.41592C>T (p.Ile13864=)
c.41589C>T (p.Ile13863=)
c.38631C>T (p.Ile12877=)
c.20247C>T (p.Ile6749=)
c.41742C>T (p.Ile13914=)
c.41739C>T (p.Ile13913=)
c.41172C>T (p.Ile13724=)
c.38514C>T (p.Ile12838=)
c.38433C>T (p.Ile12811=)
c.20196C>T (p.Ile6732=)
c.10050C>T (p.Ile3350=)
 gnomAD v4
2g.178618050G>CCA349618131TTN,TTN-AS1c.39597C>G (p.Ile13199Met)
c.20682C>G (p.Ile6894Met)
c.20481C>G (p.Ile6827Met)
c.20106C>G (p.Ile6702Met)
c.47301C>G (p.Ile15767Met)
c.42378C>G (p.Ile14126Met)
n.1605-1703G>C
c.46398C>G (p.Ile15466Met)
c.20292C>G (p.Ile6764Met)
c.20151C>G (p.Ile6717Met)
c.46194C>G (p.Ile15398Met)
c.41592C>G (p.Ile13864Met)
c.41589C>G (p.Ile13863Met)
c.38631C>G (p.Ile12877Met)
c.20247C>G (p.Ile6749Met)
c.41742C>G (p.Ile13914Met)
c.41739C>G (p.Ile13913Met)
c.41172C>G (p.Ile13724Met)
c.38514C>G (p.Ile12838Met)
c.38433C>G (p.Ile12811Met)
c.20196C>G (p.Ile6732Met)
c.10050C>G (p.Ile3350Met)
2g.178618050G>TCA430274468TTN,TTN-AS1c.39597C>A (p.Ile13199=)
c.20682C>A (p.Ile6894=)
c.20481C>A (p.Ile6827=)
c.20106C>A (p.Ile6702=)
c.47301C>A (p.Ile15767=)
c.42378C>A (p.Ile14126=)
n.1605-1703G>T
c.46398C>A (p.Ile15466=)
c.20292C>A (p.Ile6764=)
c.20151C>A (p.Ile6717=)
c.46194C>A (p.Ile15398=)
c.41592C>A (p.Ile13864=)
c.41589C>A (p.Ile13863=)
c.38631C>A (p.Ile12877=)
c.20247C>A (p.Ile6749=)
c.41742C>A (p.Ile13914=)
c.41739C>A (p.Ile13913=)
c.41172C>A (p.Ile13724=)
c.38514C>A (p.Ile12838=)
c.38433C>A (p.Ile12811=)
c.20196C>A (p.Ile6732=)
c.10050C>A (p.Ile3350=)
2g.178618051A>CCA349618152TTN,TTN-AS1c.39596T>G (p.Ile13199Ser)
c.20681T>G (p.Ile6894Ser)
c.20480T>G (p.Ile6827Ser)
c.20105T>G (p.Ile6702Ser)
c.47300T>G (p.Ile15767Ser)
c.42377T>G (p.Ile14126Ser)
n.1605-1702A>C
c.46397T>G (p.Ile15466Ser)
c.20291T>G (p.Ile6764Ser)
c.20150T>G (p.Ile6717Ser)
c.46193T>G (p.Ile15398Ser)
c.41591T>G (p.Ile13864Ser)
c.41588T>G (p.Ile13863Ser)
c.38630T>G (p.Ile12877Ser)
c.20246T>G (p.Ile6749Ser)
c.41741T>G (p.Ile13914Ser)
c.41738T>G (p.Ile13913Ser)
c.41171T>G (p.Ile13724Ser)
c.38513T>G (p.Ile12838Ser)
c.38432T>G (p.Ile12811Ser)
c.20195T>G (p.Ile6732Ser)
c.10049T>G (p.Ile3350Ser)
2g.178618051A>GCA349618148TTN,TTN-AS1c.39596T>C (p.Ile13199Thr)
c.20681T>C (p.Ile6894Thr)
c.20480T>C (p.Ile6827Thr)
c.20105T>C (p.Ile6702Thr)
c.47300T>C (p.Ile15767Thr)
c.42377T>C (p.Ile14126Thr)
n.1605-1702A>G
c.46397T>C (p.Ile15466Thr)
c.20291T>C (p.Ile6764Thr)
c.20150T>C (p.Ile6717Thr)
c.46193T>C (p.Ile15398Thr)
c.41591T>C (p.Ile13864Thr)
c.41588T>C (p.Ile13863Thr)
c.38630T>C (p.Ile12877Thr)
c.20246T>C (p.Ile6749Thr)
c.41741T>C (p.Ile13914Thr)
c.41738T>C (p.Ile13913Thr)
c.41171T>C (p.Ile13724Thr)
c.38513T>C (p.Ile12838Thr)
c.38432T>C (p.Ile12811Thr)
c.20195T>C (p.Ile6732Thr)
c.10049T>C (p.Ile3350Thr)
2g.178618051A>TCA349618144TTN,TTN-AS1c.39596T>A (p.Ile13199Asn)
c.20681T>A (p.Ile6894Asn)
c.20480T>A (p.Ile6827Asn)
c.20105T>A (p.Ile6702Asn)
c.47300T>A (p.Ile15767Asn)
c.42377T>A (p.Ile14126Asn)
n.1605-1702A>T
c.46397T>A (p.Ile15466Asn)
c.20291T>A (p.Ile6764Asn)
c.20150T>A (p.Ile6717Asn)
c.46193T>A (p.Ile15398Asn)
c.41591T>A (p.Ile13864Asn)
c.41588T>A (p.Ile13863Asn)
c.38630T>A (p.Ile12877Asn)
c.20246T>A (p.Ile6749Asn)
c.41741T>A (p.Ile13914Asn)
c.41738T>A (p.Ile13913Asn)
c.41171T>A (p.Ile13724Asn)
c.38513T>A (p.Ile12838Asn)
c.38432T>A (p.Ile12811Asn)
c.20195T>A (p.Ile6732Asn)
c.10049T>A (p.Ile3350Asn)
2g.178618052T>ACA349618162TTN,TTN-AS1c.39595A>T (p.Ile13199Phe)
c.20680A>T (p.Ile6894Phe)
c.20479A>T (p.Ile6827Phe)
c.20104A>T (p.Ile6702Phe)
c.47299A>T (p.Ile15767Phe)
c.42376A>T (p.Ile14126Phe)
n.1605-1701T>A
c.46396A>T (p.Ile15466Phe)
c.20290A>T (p.Ile6764Phe)
c.20149A>T (p.Ile6717Phe)
c.46192A>T (p.Ile15398Phe)
c.41590A>T (p.Ile13864Phe)
c.41587A>T (p.Ile13863Phe)
c.38629A>T (p.Ile12877Phe)
c.20245A>T (p.Ile6749Phe)
c.41740A>T (p.Ile13914Phe)
c.41737A>T (p.Ile13913Phe)
c.41170A>T (p.Ile13724Phe)
c.38512A>T (p.Ile12838Phe)
c.38431A>T (p.Ile12811Phe)
c.20194A>T (p.Ile6732Phe)
c.10048A>T (p.Ile3350Phe)
2g.178618052T>CCA349618165TTN,TTN-AS1c.39595A>G (p.Ile13199Val)
c.20680A>G (p.Ile6894Val)
c.20479A>G (p.Ile6827Val)
c.20104A>G (p.Ile6702Val)
c.47299A>G (p.Ile15767Val)
c.42376A>G (p.Ile14126Val)
n.1605-1701T>C
c.46396A>G (p.Ile15466Val)
c.20290A>G (p.Ile6764Val)
c.20149A>G (p.Ile6717Val)
c.46192A>G (p.Ile15398Val)
c.41590A>G (p.Ile13864Val)
c.41587A>G (p.Ile13863Val)
c.38629A>G (p.Ile12877Val)
c.20245A>G (p.Ile6749Val)
c.41740A>G (p.Ile13914Val)
c.41737A>G (p.Ile13913Val)
c.41170A>G (p.Ile13724Val)
c.38512A>G (p.Ile12838Val)
c.38431A>G (p.Ile12811Val)
c.20194A>G (p.Ile6732Val)
c.10048A>G (p.Ile3350Val)
2g.178618052T>GCA349618169TTN,TTN-AS1c.39595A>C (p.Ile13199Leu)
c.20680A>C (p.Ile6894Leu)
c.20479A>C (p.Ile6827Leu)
c.20104A>C (p.Ile6702Leu)
c.47299A>C (p.Ile15767Leu)
c.42376A>C (p.Ile14126Leu)
n.1605-1701T>G
c.46396A>C (p.Ile15466Leu)
c.20290A>C (p.Ile6764Leu)
c.20149A>C (p.Ile6717Leu)
c.46192A>C (p.Ile15398Leu)
c.41590A>C (p.Ile13864Leu)
c.41587A>C (p.Ile13863Leu)
c.38629A>C (p.Ile12877Leu)
c.20245A>C (p.Ile6749Leu)
c.41740A>C (p.Ile13914Leu)
c.41737A>C (p.Ile13913Leu)
c.41170A>C (p.Ile13724Leu)
c.38512A>C (p.Ile12838Leu)
c.38431A>C (p.Ile12811Leu)
c.20194A>C (p.Ile6732Leu)
c.10048A>C (p.Ile3350Leu)
2g.178618053G>ACA430274473TTN,TTN-AS1c.39594C>T (p.Thr13198=)
c.20679C>T (p.Thr6893=)
c.20478C>T (p.Thr6826=)
c.20103C>T (p.Thr6701=)
c.47298C>T (p.Thr15766=)
c.42375C>T (p.Thr14125=)
n.1605-1700G>A
c.46395C>T (p.Thr15465=)
c.20289C>T (p.Thr6763=)
c.20148C>T (p.Thr6716=)
c.46191C>T (p.Thr15397=)
c.41589C>T (p.Thr13863=)
c.41586C>T (p.Thr13862=)
c.38628C>T (p.Thr12876=)
c.20244C>T (p.Thr6748=)
c.41739C>T (p.Thr13913=)
c.41736C>T (p.Thr13912=)
c.41169C>T (p.Thr13723=)
c.38511C>T (p.Thr12837=)
c.38430C>T (p.Thr12810=)
c.20193C>T (p.Thr6731=)
c.10047C>T (p.Thr3349=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178618053G>CCA430274474TTN,TTN-AS1c.39594C>G (p.Thr13198=)
c.20679C>G (p.Thr6893=)
c.20478C>G (p.Thr6826=)
c.20103C>G (p.Thr6701=)
c.47298C>G (p.Thr15766=)
c.42375C>G (p.Thr14125=)
n.1605-1700G>C
c.46395C>G (p.Thr15465=)
c.20289C>G (p.Thr6763=)
c.20148C>G (p.Thr6716=)
c.46191C>G (p.Thr15397=)
c.41589C>G (p.Thr13863=)
c.41586C>G (p.Thr13862=)
c.38628C>G (p.Thr12876=)
c.20244C>G (p.Thr6748=)
c.41739C>G (p.Thr13913=)
c.41736C>G (p.Thr13912=)
c.41169C>G (p.Thr13723=)
c.38511C>G (p.Thr12837=)
c.38430C>G (p.Thr12810=)
c.20193C>G (p.Thr6731=)
c.10047C>G (p.Thr3349=)
2g.178618053G=CA1310550889TTN,TTN-AS1c.39594C= (p.Thr13198=)
c.20679C= (p.Thr6893=)
c.20478C= (p.Thr6826=)
c.20103C= (p.Thr6701=)
c.47298C= (p.Thr15766=)
c.42375C= (p.Thr14125=)
n.1605-1700G=
c.46395C= (p.Thr15465=)
c.20289C= (p.Thr6763=)
c.20148C= (p.Thr6716=)
c.46191C= (p.Thr15397=)
c.41589C= (p.Thr13863=)
c.41586C= (p.Thr13862=)
c.38628C= (p.Thr12876=)
c.20244C= (p.Thr6748=)
c.41739C= (p.Thr13913=)
c.41736C= (p.Thr13912=)
c.41169C= (p.Thr13723=)
c.38511C= (p.Thr12837=)
c.38430C= (p.Thr12810=)
c.20193C= (p.Thr6731=)
c.10047C= (p.Thr3349=)
2g.178618053G>TCA430274476TTN,TTN-AS1c.39594C>A (p.Thr13198=)
c.20679C>A (p.Thr6893=)
c.20478C>A (p.Thr6826=)
c.20103C>A (p.Thr6701=)
c.47298C>A (p.Thr15766=)
c.42375C>A (p.Thr14125=)
n.1605-1700G>T
c.46395C>A (p.Thr15465=)
c.20289C>A (p.Thr6763=)
c.20148C>A (p.Thr6716=)
c.46191C>A (p.Thr15397=)
c.41589C>A (p.Thr13863=)
c.41586C>A (p.Thr13862=)
c.38628C>A (p.Thr12876=)
c.20244C>A (p.Thr6748=)
c.41739C>A (p.Thr13913=)
c.41736C>A (p.Thr13912=)
c.41169C>A (p.Thr13723=)
c.38511C>A (p.Thr12837=)
c.38430C>A (p.Thr12810=)
c.20193C>A (p.Thr6731=)
c.10047C>A (p.Thr3349=)
2g.178618054G>ACA349618174TTN,TTN-AS1c.39593C>T (p.Thr13198Ile)
c.20678C>T (p.Thr6893Ile)
c.20477C>T (p.Thr6826Ile)
c.20102C>T (p.Thr6701Ile)
c.47297C>T (p.Thr15766Ile)
c.42374C>T (p.Thr14125Ile)
n.1605-1699G>A
c.46394C>T (p.Thr15465Ile)
c.20288C>T (p.Thr6763Ile)
c.20147C>T (p.Thr6716Ile)
c.46190C>T (p.Thr15397Ile)
c.41588C>T (p.Thr13863Ile)
c.41585C>T (p.Thr13862Ile)
c.38627C>T (p.Thr12876Ile)
c.20243C>T (p.Thr6748Ile)
c.41738C>T (p.Thr13913Ile)
c.41735C>T (p.Thr13912Ile)
c.41168C>T (p.Thr13723Ile)
c.38510C>T (p.Thr12837Ile)
c.38429C>T (p.Thr12810Ile)
c.20192C>T (p.Thr6731Ile)
c.10046C>T (p.Thr3349Ile)
 gnomAD v4
2g.178618054G>CCA349618178TTN,TTN-AS1c.39593C>G (p.Thr13198Ser)
c.20678C>G (p.Thr6893Ser)
c.20477C>G (p.Thr6826Ser)
c.20102C>G (p.Thr6701Ser)
c.47297C>G (p.Thr15766Ser)
c.42374C>G (p.Thr14125Ser)
n.1605-1699G>C
c.46394C>G (p.Thr15465Ser)
c.20288C>G (p.Thr6763Ser)
c.20147C>G (p.Thr6716Ser)
c.46190C>G (p.Thr15397Ser)
c.41588C>G (p.Thr13863Ser)
c.41585C>G (p.Thr13862Ser)
c.38627C>G (p.Thr12876Ser)
c.20243C>G (p.Thr6748Ser)
c.41738C>G (p.Thr13913Ser)
c.41735C>G (p.Thr13912Ser)
c.41168C>G (p.Thr13723Ser)
c.38510C>G (p.Thr12837Ser)
c.38429C>G (p.Thr12810Ser)
c.20192C>G (p.Thr6731Ser)
c.10046C>G (p.Thr3349Ser)
2g.178618054G=CA1310550890TTN,TTN-AS1c.39593C= (p.Thr13198=)
c.20678C= (p.Thr6893=)
c.20477C= (p.Thr6826=)
c.20102C= (p.Thr6701=)
c.47297C= (p.Thr15766=)
c.42374C= (p.Thr14125=)
n.1605-1699G=
c.46394C= (p.Thr15465=)
c.20288C= (p.Thr6763=)
c.20147C= (p.Thr6716=)
c.46190C= (p.Thr15397=)
c.41588C= (p.Thr13863=)
c.41585C= (p.Thr13862=)
c.38627C= (p.Thr12876=)
c.20243C= (p.Thr6748=)
c.41738C= (p.Thr13913=)
c.41735C= (p.Thr13912=)
c.41168C= (p.Thr13723=)
c.38510C= (p.Thr12837=)
c.38429C= (p.Thr12810=)
c.20192C= (p.Thr6731=)
c.10046C= (p.Thr3349=)
2g.178618054G>TCA1995068TTN,TTN-AS1c.39593C>A (p.Thr13198Asn)
c.20678C>A (p.Thr6893Asn)
c.20477C>A (p.Thr6826Asn)
c.20102C>A (p.Thr6701Asn)
c.47297C>A (p.Thr15766Asn)
c.42374C>A (p.Thr14125Asn)
n.1605-1699G>T
c.46394C>A (p.Thr15465Asn)
c.20288C>A (p.Thr6763Asn)
c.20147C>A (p.Thr6716Asn)
c.46190C>A (p.Thr15397Asn)
c.41588C>A (p.Thr13863Asn)
c.41585C>A (p.Thr13862Asn)
c.38627C>A (p.Thr12876Asn)
c.20243C>A (p.Thr6748Asn)
c.41738C>A (p.Thr13913Asn)
c.41735C>A (p.Thr13912Asn)
c.41168C>A (p.Thr13723Asn)
c.38510C>A (p.Thr12837Asn)
c.38429C>A (p.Thr12810Asn)
c.20192C>A (p.Thr6731Asn)
c.10046C>A (p.Thr3349Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618055T>ACA10581867TTN,TTN-AS1c.39592A>T (p.Thr13198Ser)
c.20677A>T (p.Thr6893Ser)
c.20476A>T (p.Thr6826Ser)
c.20101A>T (p.Thr6701Ser)
c.47296A>T (p.Thr15766Ser)
c.42373A>T (p.Thr14125Ser)
n.1605-1698T>A
c.46393A>T (p.Thr15465Ser)
c.20287A>T (p.Thr6763Ser)
c.20146A>T (p.Thr6716Ser)
c.46189A>T (p.Thr15397Ser)
c.41587A>T (p.Thr13863Ser)
c.41584A>T (p.Thr13862Ser)
c.38626A>T (p.Thr12876Ser)
c.20242A>T (p.Thr6748Ser)
c.41737A>T (p.Thr13913Ser)
c.41734A>T (p.Thr13912Ser)
c.41167A>T (p.Thr13723Ser)
c.38509A>T (p.Thr12837Ser)
c.38428A>T (p.Thr12810Ser)
c.20191A>T (p.Thr6731Ser)
c.10045A>T (p.Thr3349Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178618055T>CCA349618186TTN,TTN-AS1c.39592A>G (p.Thr13198Ala)
c.20677A>G (p.Thr6893Ala)
c.20476A>G (p.Thr6826Ala)
c.20101A>G (p.Thr6701Ala)
c.47296A>G (p.Thr15766Ala)
c.42373A>G (p.Thr14125Ala)
n.1605-1698T>C
c.46393A>G (p.Thr15465Ala)
c.20287A>G (p.Thr6763Ala)
c.20146A>G (p.Thr6716Ala)
c.46189A>G (p.Thr15397Ala)
c.41587A>G (p.Thr13863Ala)
c.41584A>G (p.Thr13862Ala)
c.38626A>G (p.Thr12876Ala)
c.20242A>G (p.Thr6748Ala)
c.41737A>G (p.Thr13913Ala)
c.41734A>G (p.Thr13912Ala)
c.41167A>G (p.Thr13723Ala)
c.38509A>G (p.Thr12837Ala)
c.38428A>G (p.Thr12810Ala)
c.20191A>G (p.Thr6731Ala)
c.10045A>G (p.Thr3349Ala)
2g.178618055T>GCA349618189TTN,TTN-AS1c.39592A>C (p.Thr13198Pro)
c.20677A>C (p.Thr6893Pro)
c.20476A>C (p.Thr6826Pro)
c.20101A>C (p.Thr6701Pro)
c.47296A>C (p.Thr15766Pro)
c.42373A>C (p.Thr14125Pro)
n.1605-1698T>G
c.46393A>C (p.Thr15465Pro)
c.20287A>C (p.Thr6763Pro)
c.20146A>C (p.Thr6716Pro)
c.46189A>C (p.Thr15397Pro)
c.41587A>C (p.Thr13863Pro)
c.41584A>C (p.Thr13862Pro)
c.38626A>C (p.Thr12876Pro)
c.20242A>C (p.Thr6748Pro)
c.41737A>C (p.Thr13913Pro)
c.41734A>C (p.Thr13912Pro)
c.41167A>C (p.Thr13723Pro)
c.38509A>C (p.Thr12837Pro)
c.38428A>C (p.Thr12810Pro)
c.20191A>C (p.Thr6731Pro)
c.10045A>C (p.Thr3349Pro)
2g.178618055T=CA1310550891TTN,TTN-AS1c.39592A= (p.Thr13198=)
c.20677A= (p.Thr6893=)
c.20476A= (p.Thr6826=)
c.20101A= (p.Thr6701=)
c.47296A= (p.Thr15766=)
c.42373A= (p.Thr14125=)
n.1605-1698T=
c.46393A= (p.Thr15465=)
c.20287A= (p.Thr6763=)
c.20146A= (p.Thr6716=)
c.46189A= (p.Thr15397=)
c.41587A= (p.Thr13863=)
c.41584A= (p.Thr13862=)
c.38626A= (p.Thr12876=)
c.20242A= (p.Thr6748=)
c.41737A= (p.Thr13913=)
c.41734A= (p.Thr13912=)
c.41167A= (p.Thr13723=)
c.38509A= (p.Thr12837=)
c.38428A= (p.Thr12810=)
c.20191A= (p.Thr6731=)
c.10045A= (p.Thr3349=)
2g.178618056T>ACA430274488TTN,TTN-AS1c.39591A>T (p.Val13197=)
c.20676A>T (p.Val6892=)
c.20475A>T (p.Val6825=)
c.20100A>T (p.Val6700=)
c.47295A>T (p.Val15765=)
c.42372A>T (p.Val14124=)
n.1605-1697T>A
c.46392A>T (p.Val15464=)
c.20286A>T (p.Val6762=)
c.20145A>T (p.Val6715=)
c.46188A>T (p.Val15396=)
c.41586A>T (p.Val13862=)
c.41583A>T (p.Val13861=)
c.38625A>T (p.Val12875=)
c.20241A>T (p.Val6747=)
c.41736A>T (p.Val13912=)
c.41733A>T (p.Val13911=)
c.41166A>T (p.Val13722=)
c.38508A>T (p.Val12836=)
c.38427A>T (p.Val12809=)
c.20190A>T (p.Val6730=)
c.10044A>T (p.Val3348=)
 dbSNP gnomAD v4
2g.178618056T>CCA430274491TTN,TTN-AS1c.39591A>G (p.Val13197=)
c.20676A>G (p.Val6892=)
c.20475A>G (p.Val6825=)
c.20100A>G (p.Val6700=)
c.47295A>G (p.Val15765=)
c.42372A>G (p.Val14124=)
n.1605-1697T>C
c.46392A>G (p.Val15464=)
c.20286A>G (p.Val6762=)
c.20145A>G (p.Val6715=)
c.46188A>G (p.Val15396=)
c.41586A>G (p.Val13862=)
c.41583A>G (p.Val13861=)
c.38625A>G (p.Val12875=)
c.20241A>G (p.Val6747=)
c.41736A>G (p.Val13912=)
c.41733A>G (p.Val13911=)
c.41166A>G (p.Val13722=)
c.38508A>G (p.Val12836=)
c.38427A>G (p.Val12809=)
c.20190A>G (p.Val6730=)
c.10044A>G (p.Val3348=)
2g.178618056T>GCA430274492TTN,TTN-AS1c.39591A>C (p.Val13197=)
c.20676A>C (p.Val6892=)
c.20475A>C (p.Val6825=)
c.20100A>C (p.Val6700=)
c.47295A>C (p.Val15765=)
c.42372A>C (p.Val14124=)
n.1605-1697T>G
c.46392A>C (p.Val15464=)
c.20286A>C (p.Val6762=)
c.20145A>C (p.Val6715=)
c.46188A>C (p.Val15396=)
c.41586A>C (p.Val13862=)
c.41583A>C (p.Val13861=)
c.38625A>C (p.Val12875=)
c.20241A>C (p.Val6747=)
c.41736A>C (p.Val13912=)
c.41733A>C (p.Val13911=)
c.41166A>C (p.Val13722=)
c.38508A>C (p.Val12836=)
c.38427A>C (p.Val12809=)
c.20190A>C (p.Val6730=)
c.10044A>C (p.Val3348=)
2g.178618056T=CA1310550892TTN,TTN-AS1c.39591A= (p.Val13197=)
c.20676A= (p.Val6892=)
c.20475A= (p.Val6825=)
c.20100A= (p.Val6700=)
c.47295A= (p.Val15765=)
c.42372A= (p.Val14124=)
n.1605-1697T=
c.46392A= (p.Val15464=)
c.20286A= (p.Val6762=)
c.20145A= (p.Val6715=)
c.46188A= (p.Val15396=)
c.41586A= (p.Val13862=)
c.41583A= (p.Val13861=)
c.38625A= (p.Val12875=)
c.20241A= (p.Val6747=)
c.41736A= (p.Val13912=)
c.41733A= (p.Val13911=)
c.41166A= (p.Val13722=)
c.38508A= (p.Val12836=)
c.38427A= (p.Val12809=)
c.20190A= (p.Val6730=)
c.10044A= (p.Val3348=)
2g.178618057A>CCA349618197TTN,TTN-AS1c.39590T>G (p.Val13197Gly)
c.20675T>G (p.Val6892Gly)
c.20474T>G (p.Val6825Gly)
c.20099T>G (p.Val6700Gly)
c.47294T>G (p.Val15765Gly)
c.42371T>G (p.Val14124Gly)
n.1605-1696A>C
c.46391T>G (p.Val15464Gly)
c.20285T>G (p.Val6762Gly)
c.20144T>G (p.Val6715Gly)
c.46187T>G (p.Val15396Gly)
c.41585T>G (p.Val13862Gly)
c.41582T>G (p.Val13861Gly)
c.38624T>G (p.Val12875Gly)
c.20240T>G (p.Val6747Gly)
c.41735T>G (p.Val13912Gly)
c.41732T>G (p.Val13911Gly)
c.41165T>G (p.Val13722Gly)
c.38507T>G (p.Val12836Gly)
c.38426T>G (p.Val12809Gly)
c.20189T>G (p.Val6730Gly)
c.10043T>G (p.Val3348Gly)
2g.178618057A>GCA349618201TTN,TTN-AS1c.39590T>C (p.Val13197Ala)
c.20675T>C (p.Val6892Ala)
c.20474T>C (p.Val6825Ala)
c.20099T>C (p.Val6700Ala)
c.47294T>C (p.Val15765Ala)
c.42371T>C (p.Val14124Ala)
n.1605-1696A>G
c.46391T>C (p.Val15464Ala)
c.20285T>C (p.Val6762Ala)
c.20144T>C (p.Val6715Ala)
c.46187T>C (p.Val15396Ala)
c.41585T>C (p.Val13862Ala)
c.41582T>C (p.Val13861Ala)
c.38624T>C (p.Val12875Ala)
c.20240T>C (p.Val6747Ala)
c.41735T>C (p.Val13912Ala)
c.41732T>C (p.Val13911Ala)
c.41165T>C (p.Val13722Ala)
c.38507T>C (p.Val12836Ala)
c.38426T>C (p.Val12809Ala)
c.20189T>C (p.Val6730Ala)
c.10043T>C (p.Val3348Ala)
2g.178618057A>TCA349618200TTN,TTN-AS1c.39590T>A (p.Val13197Glu)
c.20675T>A (p.Val6892Glu)
c.20474T>A (p.Val6825Glu)
c.20099T>A (p.Val6700Glu)
c.47294T>A (p.Val15765Glu)
c.42371T>A (p.Val14124Glu)
n.1605-1696A>T
c.46391T>A (p.Val15464Glu)
c.20285T>A (p.Val6762Glu)
c.20144T>A (p.Val6715Glu)
c.46187T>A (p.Val15396Glu)
c.41585T>A (p.Val13862Glu)
c.41582T>A (p.Val13861Glu)
c.38624T>A (p.Val12875Glu)
c.20240T>A (p.Val6747Glu)
c.41735T>A (p.Val13912Glu)
c.41732T>A (p.Val13911Glu)
c.41165T>A (p.Val13722Glu)
c.38507T>A (p.Val12836Glu)
c.38426T>A (p.Val12809Glu)
c.20189T>A (p.Val6730Glu)
c.10043T>A (p.Val3348Glu)
2g.178618058C>ACA349618202TTN,TTN-AS1c.39589G>T (p.Val13197Leu)
c.20674G>T (p.Val6892Leu)
c.20473G>T (p.Val6825Leu)
c.20098G>T (p.Val6700Leu)
c.47293G>T (p.Val15765Leu)
c.42370G>T (p.Val14124Leu)
n.1605-1695C>A
c.46390G>T (p.Val15464Leu)
c.20284G>T (p.Val6762Leu)
c.20143G>T (p.Val6715Leu)
c.46186G>T (p.Val15396Leu)
c.41584G>T (p.Val13862Leu)
c.41581G>T (p.Val13861Leu)
c.38623G>T (p.Val12875Leu)
c.20239G>T (p.Val6747Leu)
c.41734G>T (p.Val13912Leu)
c.41731G>T (p.Val13911Leu)
c.41164G>T (p.Val13722Leu)
c.38506G>T (p.Val12836Leu)
c.38425G>T (p.Val12809Leu)
c.20188G>T (p.Val6730Leu)
c.10042G>T (p.Val3348Leu)
2g.178618058C=CA1310550894TTN,TTN-AS1c.39589G= (p.Val13197=)
c.20674G= (p.Val6892=)
c.20473G= (p.Val6825=)
c.20098G= (p.Val6700=)
c.47293G= (p.Val15765=)
c.42370G= (p.Val14124=)
n.1605-1695C=
c.46390G= (p.Val15464=)
c.20284G= (p.Val6762=)
c.20143G= (p.Val6715=)
c.46186G= (p.Val15396=)
c.41584G= (p.Val13862=)
c.41581G= (p.Val13861=)
c.38623G= (p.Val12875=)
c.20239G= (p.Val6747=)
c.41734G= (p.Val13912=)
c.41731G= (p.Val13911=)
c.41164G= (p.Val13722=)
c.38506G= (p.Val12836=)
c.38425G= (p.Val12809=)
c.20188G= (p.Val6730=)
c.10042G= (p.Val3348=)
2g.178618058C>GCA349618206TTN,TTN-AS1c.39589G>C (p.Val13197Leu)
c.20674G>C (p.Val6892Leu)
c.20473G>C (p.Val6825Leu)
c.20098G>C (p.Val6700Leu)
c.47293G>C (p.Val15765Leu)
c.42370G>C (p.Val14124Leu)
n.1605-1695C>G
c.46390G>C (p.Val15464Leu)
c.20284G>C (p.Val6762Leu)
c.20143G>C (p.Val6715Leu)
c.46186G>C (p.Val15396Leu)
c.41584G>C (p.Val13862Leu)
c.41581G>C (p.Val13861Leu)
c.38623G>C (p.Val12875Leu)
c.20239G>C (p.Val6747Leu)
c.41734G>C (p.Val13912Leu)
c.41731G>C (p.Val13911Leu)
c.41164G>C (p.Val13722Leu)
c.38506G>C (p.Val12836Leu)
c.38425G>C (p.Val12809Leu)
c.20188G>C (p.Val6730Leu)
c.10042G>C (p.Val3348Leu)

Number of alleles fetched