Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618677A>CCA349621832TTN,TTN-AS1c.39169T>G (p.Leu13057Val)
c.20254T>G (p.Leu6752Val)
c.20053T>G (p.Leu6685Val)
c.19678T>G (p.Leu6560Val)
c.46873T>G (p.Leu15625Val)
c.41950T>G (p.Leu13984Val)
n.1605-1076A>C
c.45970T>G (p.Leu15324Val)
c.19864T>G (p.Leu6622Val)
c.19723T>G (p.Leu6575Val)
c.45766T>G (p.Leu15256Val)
c.41164T>G (p.Leu13722Val)
c.41161T>G (p.Leu13721Val)
c.38203T>G (p.Leu12735Val)
c.19819T>G (p.Leu6607Val)
c.41314T>G (p.Leu13772Val)
c.41311T>G (p.Leu13771Val)
c.40744T>G (p.Leu13582Val)
c.38086T>G (p.Leu12696Val)
c.38005T>G (p.Leu12669Val)
c.19768T>G (p.Leu6590Val)
c.9622T>G (p.Leu3208Val)
2g.178618677A>GCA430274851TTN,TTN-AS1c.39169T>C (p.Leu13057=)
c.20254T>C (p.Leu6752=)
c.20053T>C (p.Leu6685=)
c.19678T>C (p.Leu6560=)
c.46873T>C (p.Leu15625=)
c.41950T>C (p.Leu13984=)
n.1605-1076A>G
c.45970T>C (p.Leu15324=)
c.19864T>C (p.Leu6622=)
c.19723T>C (p.Leu6575=)
c.45766T>C (p.Leu15256=)
c.41164T>C (p.Leu13722=)
c.41161T>C (p.Leu13721=)
c.38203T>C (p.Leu12735=)
c.19819T>C (p.Leu6607=)
c.41314T>C (p.Leu13772=)
c.41311T>C (p.Leu13771=)
c.40744T>C (p.Leu13582=)
c.38086T>C (p.Leu12696=)
c.38005T>C (p.Leu12669=)
c.19768T>C (p.Leu6590=)
c.9622T>C (p.Leu3208=)
2g.178618677A>TCA349621836TTN,TTN-AS1c.39169T>A (p.Leu13057Ile)
c.20254T>A (p.Leu6752Ile)
c.20053T>A (p.Leu6685Ile)
c.19678T>A (p.Leu6560Ile)
c.46873T>A (p.Leu15625Ile)
c.41950T>A (p.Leu13984Ile)
n.1605-1076A>T
c.45970T>A (p.Leu15324Ile)
c.19864T>A (p.Leu6622Ile)
c.19723T>A (p.Leu6575Ile)
c.45766T>A (p.Leu15256Ile)
c.41164T>A (p.Leu13722Ile)
c.41161T>A (p.Leu13721Ile)
c.38203T>A (p.Leu12735Ile)
c.19819T>A (p.Leu6607Ile)
c.41314T>A (p.Leu13772Ile)
c.41311T>A (p.Leu13771Ile)
c.40744T>A (p.Leu13582Ile)
c.38086T>A (p.Leu12696Ile)
c.38005T>A (p.Leu12669Ile)
c.19768T>A (p.Leu6590Ile)
c.9622T>A (p.Leu3208Ile)
2g.178618678A>CCA349621838TTN,TTN-AS1c.39168T>G (p.Ile13056Met)
c.20253T>G (p.Ile6751Met)
c.20052T>G (p.Ile6684Met)
c.19677T>G (p.Ile6559Met)
c.46872T>G (p.Ile15624Met)
c.41949T>G (p.Ile13983Met)
n.1605-1075A>C
c.45969T>G (p.Ile15323Met)
c.19863T>G (p.Ile6621Met)
c.19722T>G (p.Ile6574Met)
c.45765T>G (p.Ile15255Met)
c.41163T>G (p.Ile13721Met)
c.41160T>G (p.Ile13720Met)
c.38202T>G (p.Ile12734Met)
c.19818T>G (p.Ile6606Met)
c.41313T>G (p.Ile13771Met)
c.41310T>G (p.Ile13770Met)
c.40743T>G (p.Ile13581Met)
c.38085T>G (p.Ile12695Met)
c.38004T>G (p.Ile12668Met)
c.19767T>G (p.Ile6589Met)
c.9621T>G (p.Ile3207Met)
2g.178618678A>GCA430274854TTN,TTN-AS1c.39168T>C (p.Ile13056=)
c.20253T>C (p.Ile6751=)
c.20052T>C (p.Ile6684=)
c.19677T>C (p.Ile6559=)
c.46872T>C (p.Ile15624=)
c.41949T>C (p.Ile13983=)
n.1605-1075A>G
c.45969T>C (p.Ile15323=)
c.19863T>C (p.Ile6621=)
c.19722T>C (p.Ile6574=)
c.45765T>C (p.Ile15255=)
c.41163T>C (p.Ile13721=)
c.41160T>C (p.Ile13720=)
c.38202T>C (p.Ile12734=)
c.19818T>C (p.Ile6606=)
c.41313T>C (p.Ile13771=)
c.41310T>C (p.Ile13770=)
c.40743T>C (p.Ile13581=)
c.38085T>C (p.Ile12695=)
c.38004T>C (p.Ile12668=)
c.19767T>C (p.Ile6589=)
c.9621T>C (p.Ile3207=)
 ClinVar dbSNP
2g.178618678A>TCA430274855TTN,TTN-AS1c.39168T>A (p.Ile13056=)
c.20253T>A (p.Ile6751=)
c.20052T>A (p.Ile6684=)
c.19677T>A (p.Ile6559=)
c.46872T>A (p.Ile15624=)
c.41949T>A (p.Ile13983=)
n.1605-1075A>T
c.45969T>A (p.Ile15323=)
c.19863T>A (p.Ile6621=)
c.19722T>A (p.Ile6574=)
c.45765T>A (p.Ile15255=)
c.41163T>A (p.Ile13721=)
c.41160T>A (p.Ile13720=)
c.38202T>A (p.Ile12734=)
c.19818T>A (p.Ile6606=)
c.41313T>A (p.Ile13771=)
c.41310T>A (p.Ile13770=)
c.40743T>A (p.Ile13581=)
c.38085T>A (p.Ile12695=)
c.38004T>A (p.Ile12668=)
c.19767T>A (p.Ile6589=)
c.9621T>A (p.Ile3207=)
2g.178618679A>CCA349621843TTN,TTN-AS1c.39167T>G (p.Ile13056Ser)
c.20252T>G (p.Ile6751Ser)
c.20051T>G (p.Ile6684Ser)
c.19676T>G (p.Ile6559Ser)
c.46871T>G (p.Ile15624Ser)
c.41948T>G (p.Ile13983Ser)
n.1605-1074A>C
c.45968T>G (p.Ile15323Ser)
c.19862T>G (p.Ile6621Ser)
c.19721T>G (p.Ile6574Ser)
c.45764T>G (p.Ile15255Ser)
c.41162T>G (p.Ile13721Ser)
c.41159T>G (p.Ile13720Ser)
c.38201T>G (p.Ile12734Ser)
c.19817T>G (p.Ile6606Ser)
c.41312T>G (p.Ile13771Ser)
c.41309T>G (p.Ile13770Ser)
c.40742T>G (p.Ile13581Ser)
c.38084T>G (p.Ile12695Ser)
c.38003T>G (p.Ile12668Ser)
c.19766T>G (p.Ile6589Ser)
c.9620T>G (p.Ile3207Ser)
2g.178618679A>GCA349621844TTN,TTN-AS1c.39167T>C (p.Ile13056Thr)
c.20252T>C (p.Ile6751Thr)
c.20051T>C (p.Ile6684Thr)
c.19676T>C (p.Ile6559Thr)
c.46871T>C (p.Ile15624Thr)
c.41948T>C (p.Ile13983Thr)
n.1605-1074A>G
c.45968T>C (p.Ile15323Thr)
c.19862T>C (p.Ile6621Thr)
c.19721T>C (p.Ile6574Thr)
c.45764T>C (p.Ile15255Thr)
c.41162T>C (p.Ile13721Thr)
c.41159T>C (p.Ile13720Thr)
c.38201T>C (p.Ile12734Thr)
c.19817T>C (p.Ile6606Thr)
c.41312T>C (p.Ile13771Thr)
c.41309T>C (p.Ile13770Thr)
c.40742T>C (p.Ile13581Thr)
c.38084T>C (p.Ile12695Thr)
c.38003T>C (p.Ile12668Thr)
c.19766T>C (p.Ile6589Thr)
c.9620T>C (p.Ile3207Thr)
2g.178618679A>TCA349621845TTN,TTN-AS1c.39167T>A (p.Ile13056Asn)
c.20252T>A (p.Ile6751Asn)
c.20051T>A (p.Ile6684Asn)
c.19676T>A (p.Ile6559Asn)
c.46871T>A (p.Ile15624Asn)
c.41948T>A (p.Ile13983Asn)
n.1605-1074A>T
c.45968T>A (p.Ile15323Asn)
c.19862T>A (p.Ile6621Asn)
c.19721T>A (p.Ile6574Asn)
c.45764T>A (p.Ile15255Asn)
c.41162T>A (p.Ile13721Asn)
c.41159T>A (p.Ile13720Asn)
c.38201T>A (p.Ile12734Asn)
c.19817T>A (p.Ile6606Asn)
c.41312T>A (p.Ile13771Asn)
c.41309T>A (p.Ile13770Asn)
c.40742T>A (p.Ile13581Asn)
c.38084T>A (p.Ile12695Asn)
c.38003T>A (p.Ile12668Asn)
c.19766T>A (p.Ile6589Asn)
c.9620T>A (p.Ile3207Asn)
2g.178618680T>ACA349621846TTN,TTN-AS1c.39166A>T (p.Ile13056Phe)
c.20251A>T (p.Ile6751Phe)
c.20050A>T (p.Ile6684Phe)
c.19675A>T (p.Ile6559Phe)
c.46870A>T (p.Ile15624Phe)
c.41947A>T (p.Ile13983Phe)
n.1605-1073T>A
c.45967A>T (p.Ile15323Phe)
c.19861A>T (p.Ile6621Phe)
c.19720A>T (p.Ile6574Phe)
c.45763A>T (p.Ile15255Phe)
c.41161A>T (p.Ile13721Phe)
c.41158A>T (p.Ile13720Phe)
c.38200A>T (p.Ile12734Phe)
c.19816A>T (p.Ile6606Phe)
c.41311A>T (p.Ile13771Phe)
c.41308A>T (p.Ile13770Phe)
c.40741A>T (p.Ile13581Phe)
c.38083A>T (p.Ile12695Phe)
c.38002A>T (p.Ile12668Phe)
c.19765A>T (p.Ile6589Phe)
c.9619A>T (p.Ile3207Phe)
2g.178618680T>CCA349621847TTN,TTN-AS1c.39166A>G (p.Ile13056Val)
c.20251A>G (p.Ile6751Val)
c.20050A>G (p.Ile6684Val)
c.19675A>G (p.Ile6559Val)
c.46870A>G (p.Ile15624Val)
c.41947A>G (p.Ile13983Val)
n.1605-1073T>C
c.45967A>G (p.Ile15323Val)
c.19861A>G (p.Ile6621Val)
c.19720A>G (p.Ile6574Val)
c.45763A>G (p.Ile15255Val)
c.41161A>G (p.Ile13721Val)
c.41158A>G (p.Ile13720Val)
c.38200A>G (p.Ile12734Val)
c.19816A>G (p.Ile6606Val)
c.41311A>G (p.Ile13771Val)
c.41308A>G (p.Ile13770Val)
c.40741A>G (p.Ile13581Val)
c.38083A>G (p.Ile12695Val)
c.38002A>G (p.Ile12668Val)
c.19765A>G (p.Ile6589Val)
c.9619A>G (p.Ile3207Val)
 dbSNP gnomAD v2
2g.178618680T>GCA349621848TTN,TTN-AS1c.39166A>C (p.Ile13056Leu)
c.20251A>C (p.Ile6751Leu)
c.20050A>C (p.Ile6684Leu)
c.19675A>C (p.Ile6559Leu)
c.46870A>C (p.Ile15624Leu)
c.41947A>C (p.Ile13983Leu)
n.1605-1073T>G
c.45967A>C (p.Ile15323Leu)
c.19861A>C (p.Ile6621Leu)
c.19720A>C (p.Ile6574Leu)
c.45763A>C (p.Ile15255Leu)
c.41161A>C (p.Ile13721Leu)
c.41158A>C (p.Ile13720Leu)
c.38200A>C (p.Ile12734Leu)
c.19816A>C (p.Ile6606Leu)
c.41311A>C (p.Ile13771Leu)
c.41308A>C (p.Ile13770Leu)
c.40741A>C (p.Ile13581Leu)
c.38083A>C (p.Ile12695Leu)
c.38002A>C (p.Ile12668Leu)
c.19765A>C (p.Ile6589Leu)
c.9619A>C (p.Ile3207Leu)
2g.178618680T=CA1310551138TTN,TTN-AS1c.39166A= (p.Ile13056=)
c.20251A= (p.Ile6751=)
c.20050A= (p.Ile6684=)
c.19675A= (p.Ile6559=)
c.46870A= (p.Ile15624=)
c.41947A= (p.Ile13983=)
n.1605-1073T=
c.45967A= (p.Ile15323=)
c.19861A= (p.Ile6621=)
c.19720A= (p.Ile6574=)
c.45763A= (p.Ile15255=)
c.41161A= (p.Ile13721=)
c.41158A= (p.Ile13720=)
c.38200A= (p.Ile12734=)
c.19816A= (p.Ile6606=)
c.41311A= (p.Ile13771=)
c.41308A= (p.Ile13770=)
c.40741A= (p.Ile13581=)
c.38083A= (p.Ile12695=)
c.38002A= (p.Ile12668=)
c.19765A= (p.Ile6589=)
c.9619A= (p.Ile3207=)
2g.178618681T>ACA349621850TTN,TTN-AS1c.39165A>T (p.Arg13055Ser)
c.20250A>T (p.Arg6750Ser)
c.20049A>T (p.Arg6683Ser)
c.19674A>T (p.Arg6558Ser)
c.46869A>T (p.Arg15623Ser)
c.41946A>T (p.Arg13982Ser)
n.1605-1072T>A
c.45966A>T (p.Arg15322Ser)
c.19860A>T (p.Arg6620Ser)
c.19719A>T (p.Arg6573Ser)
c.45762A>T (p.Arg15254Ser)
c.41160A>T (p.Arg13720Ser)
c.41157A>T (p.Arg13719Ser)
c.38199A>T (p.Arg12733Ser)
c.19815A>T (p.Arg6605Ser)
c.41310A>T (p.Arg13770Ser)
c.41307A>T (p.Arg13769Ser)
c.40740A>T (p.Arg13580Ser)
c.38082A>T (p.Arg12694Ser)
c.38001A>T (p.Arg12667Ser)
c.19764A>T (p.Arg6588Ser)
c.9618A>T (p.Arg3206Ser)
2g.178618681T>CCA430274857TTN,TTN-AS1c.39165A>G (p.Arg13055=)
c.20250A>G (p.Arg6750=)
c.20049A>G (p.Arg6683=)
c.19674A>G (p.Arg6558=)
c.46869A>G (p.Arg15623=)
c.41946A>G (p.Arg13982=)
n.1605-1072T>C
c.45966A>G (p.Arg15322=)
c.19860A>G (p.Arg6620=)
c.19719A>G (p.Arg6573=)
c.45762A>G (p.Arg15254=)
c.41160A>G (p.Arg13720=)
c.41157A>G (p.Arg13719=)
c.38199A>G (p.Arg12733=)
c.19815A>G (p.Arg6605=)
c.41310A>G (p.Arg13770=)
c.41307A>G (p.Arg13769=)
c.40740A>G (p.Arg13580=)
c.38082A>G (p.Arg12694=)
c.38001A>G (p.Arg12667=)
c.19764A>G (p.Arg6588=)
c.9618A>G (p.Arg3206=)
 ClinVar dbSNP
2g.178618681T>GCA349621849TTN,TTN-AS1c.39165A>C (p.Arg13055Ser)
c.20250A>C (p.Arg6750Ser)
c.20049A>C (p.Arg6683Ser)
c.19674A>C (p.Arg6558Ser)
c.46869A>C (p.Arg15623Ser)
c.41946A>C (p.Arg13982Ser)
n.1605-1072T>G
c.45966A>C (p.Arg15322Ser)
c.19860A>C (p.Arg6620Ser)
c.19719A>C (p.Arg6573Ser)
c.45762A>C (p.Arg15254Ser)
c.41160A>C (p.Arg13720Ser)
c.41157A>C (p.Arg13719Ser)
c.38199A>C (p.Arg12733Ser)
c.19815A>C (p.Arg6605Ser)
c.41310A>C (p.Arg13770Ser)
c.41307A>C (p.Arg13769Ser)
c.40740A>C (p.Arg13580Ser)
c.38082A>C (p.Arg12694Ser)
c.38001A>C (p.Arg12667Ser)
c.19764A>C (p.Arg6588Ser)
c.9618A>C (p.Arg3206Ser)
2g.178618681T=CA1310551139TTN,TTN-AS1c.39165A= (p.Arg13055=)
c.20250A= (p.Arg6750=)
c.20049A= (p.Arg6683=)
c.19674A= (p.Arg6558=)
c.46869A= (p.Arg15623=)
c.41946A= (p.Arg13982=)
n.1605-1072T=
c.45966A= (p.Arg15322=)
c.19860A= (p.Arg6620=)
c.19719A= (p.Arg6573=)
c.45762A= (p.Arg15254=)
c.41160A= (p.Arg13720=)
c.41157A= (p.Arg13719=)
c.38199A= (p.Arg12733=)
c.19815A= (p.Arg6605=)
c.41310A= (p.Arg13770=)
c.41307A= (p.Arg13769=)
c.40740A= (p.Arg13580=)
c.38082A= (p.Arg12694=)
c.38001A= (p.Arg12667=)
c.19764A= (p.Arg6588=)
c.9618A= (p.Arg3206=)
2g.178618682C>ACA349621851TTN,TTN-AS1c.39164G>T (p.Arg13055Ile)
c.20249G>T (p.Arg6750Ile)
c.20048G>T (p.Arg6683Ile)
c.19673G>T (p.Arg6558Ile)
c.46868G>T (p.Arg15623Ile)
c.41945G>T (p.Arg13982Ile)
n.1605-1071C>A
c.45965G>T (p.Arg15322Ile)
c.19859G>T (p.Arg6620Ile)
c.19718G>T (p.Arg6573Ile)
c.45761G>T (p.Arg15254Ile)
c.41159G>T (p.Arg13720Ile)
c.41156G>T (p.Arg13719Ile)
c.38198G>T (p.Arg12733Ile)
c.19814G>T (p.Arg6605Ile)
c.41309G>T (p.Arg13770Ile)
c.41306G>T (p.Arg13769Ile)
c.40739G>T (p.Arg13580Ile)
c.38081G>T (p.Arg12694Ile)
c.38000G>T (p.Arg12667Ile)
c.19763G>T (p.Arg6588Ile)
c.9617G>T (p.Arg3206Ile)
2g.178618682C>GCA349621852TTN,TTN-AS1c.39164G>C (p.Arg13055Thr)
c.20249G>C (p.Arg6750Thr)
c.20048G>C (p.Arg6683Thr)
c.19673G>C (p.Arg6558Thr)
c.46868G>C (p.Arg15623Thr)
c.41945G>C (p.Arg13982Thr)
n.1605-1071C>G
c.45965G>C (p.Arg15322Thr)
c.19859G>C (p.Arg6620Thr)
c.19718G>C (p.Arg6573Thr)
c.45761G>C (p.Arg15254Thr)
c.41159G>C (p.Arg13720Thr)
c.41156G>C (p.Arg13719Thr)
c.38198G>C (p.Arg12733Thr)
c.19814G>C (p.Arg6605Thr)
c.41309G>C (p.Arg13770Thr)
c.41306G>C (p.Arg13769Thr)
c.40739G>C (p.Arg13580Thr)
c.38081G>C (p.Arg12694Thr)
c.38000G>C (p.Arg12667Thr)
c.19763G>C (p.Arg6588Thr)
c.9617G>C (p.Arg3206Thr)
2g.178618682C>TCA349621857TTN,TTN-AS1c.39164G>A (p.Arg13055Lys)
c.20249G>A (p.Arg6750Lys)
c.20048G>A (p.Arg6683Lys)
c.19673G>A (p.Arg6558Lys)
c.46868G>A (p.Arg15623Lys)
c.41945G>A (p.Arg13982Lys)
n.1605-1071C>T
c.45965G>A (p.Arg15322Lys)
c.19859G>A (p.Arg6620Lys)
c.19718G>A (p.Arg6573Lys)
c.45761G>A (p.Arg15254Lys)
c.41159G>A (p.Arg13720Lys)
c.41156G>A (p.Arg13719Lys)
c.38198G>A (p.Arg12733Lys)
c.19814G>A (p.Arg6605Lys)
c.41309G>A (p.Arg13770Lys)
c.41306G>A (p.Arg13769Lys)
c.40739G>A (p.Arg13580Lys)
c.38081G>A (p.Arg12694Lys)
c.38000G>A (p.Arg12667Lys)
c.19763G>A (p.Arg6588Lys)
c.9617G>A (p.Arg3206Lys)
2g.178618683T>ACA349621860TTN,TTN-AS1c.39163A>T (p.Arg13055Ter)
c.20248A>T (p.Arg6750Ter)
c.20047A>T (p.Arg6683Ter)
c.19672A>T (p.Arg6558Ter)
c.46867A>T (p.Arg15623Ter)
c.41944A>T (p.Arg13982Ter)
n.1605-1070T>A
c.45964A>T (p.Arg15322Ter)
c.19858A>T (p.Arg6620Ter)
c.19717A>T (p.Arg6573Ter)
c.45760A>T (p.Arg15254Ter)
c.41158A>T (p.Arg13720Ter)
c.41155A>T (p.Arg13719Ter)
c.38197A>T (p.Arg12733Ter)
c.19813A>T (p.Arg6605Ter)
c.41308A>T (p.Arg13770Ter)
c.41305A>T (p.Arg13769Ter)
c.40738A>T (p.Arg13580Ter)
c.38080A>T (p.Arg12694Ter)
c.37999A>T (p.Arg12667Ter)
c.19762A>T (p.Arg6588Ter)
c.9616A>T (p.Arg3206Ter)
2g.178618683T>CCA349621863TTN,TTN-AS1c.39163A>G (p.Arg13055Gly)
c.20248A>G (p.Arg6750Gly)
c.20047A>G (p.Arg6683Gly)
c.19672A>G (p.Arg6558Gly)
c.46867A>G (p.Arg15623Gly)
c.41944A>G (p.Arg13982Gly)
n.1605-1070T>C
c.45964A>G (p.Arg15322Gly)
c.19858A>G (p.Arg6620Gly)
c.19717A>G (p.Arg6573Gly)
c.45760A>G (p.Arg15254Gly)
c.41158A>G (p.Arg13720Gly)
c.41155A>G (p.Arg13719Gly)
c.38197A>G (p.Arg12733Gly)
c.19813A>G (p.Arg6605Gly)
c.41308A>G (p.Arg13770Gly)
c.41305A>G (p.Arg13769Gly)
c.40738A>G (p.Arg13580Gly)
c.38080A>G (p.Arg12694Gly)
c.37999A>G (p.Arg12667Gly)
c.19762A>G (p.Arg6588Gly)
c.9616A>G (p.Arg3206Gly)
 gnomAD v4
2g.178618683T>GCA430274858TTN,TTN-AS1c.39163A>C (p.Arg13055=)
c.20248A>C (p.Arg6750=)
c.20047A>C (p.Arg6683=)
c.19672A>C (p.Arg6558=)
c.46867A>C (p.Arg15623=)
c.41944A>C (p.Arg13982=)
n.1605-1070T>G
c.45964A>C (p.Arg15322=)
c.19858A>C (p.Arg6620=)
c.19717A>C (p.Arg6573=)
c.45760A>C (p.Arg15254=)
c.41158A>C (p.Arg13720=)
c.41155A>C (p.Arg13719=)
c.38197A>C (p.Arg12733=)
c.19813A>C (p.Arg6605=)
c.41308A>C (p.Arg13770=)
c.41305A>C (p.Arg13769=)
c.40738A>C (p.Arg13580=)
c.38080A>C (p.Arg12694=)
c.37999A>C (p.Arg12667=)
c.19762A>C (p.Arg6588=)
c.9616A>C (p.Arg3206=)
2g.178618684G>ACA430274860TTN,TTN-AS1c.39162C>T (p.Phe13054=)
c.20247C>T (p.Phe6749=)
c.20046C>T (p.Phe6682=)
c.19671C>T (p.Phe6557=)
c.46866C>T (p.Phe15622=)
c.41943C>T (p.Phe13981=)
n.1605-1069G>A
c.45963C>T (p.Phe15321=)
c.19857C>T (p.Phe6619=)
c.19716C>T (p.Phe6572=)
c.45759C>T (p.Phe15253=)
c.41157C>T (p.Phe13719=)
c.41154C>T (p.Phe13718=)
c.38196C>T (p.Phe12732=)
c.19812C>T (p.Phe6604=)
c.41307C>T (p.Phe13769=)
c.41304C>T (p.Phe13768=)
c.40737C>T (p.Phe13579=)
c.38079C>T (p.Phe12693=)
c.37998C>T (p.Phe12666=)
c.19761C>T (p.Phe6587=)
c.9615C>T (p.Phe3205=)
 gnomAD v4
2g.178618684G>CCA349621865TTN,TTN-AS1c.39162C>G (p.Phe13054Leu)
c.20247C>G (p.Phe6749Leu)
c.20046C>G (p.Phe6682Leu)
c.19671C>G (p.Phe6557Leu)
c.46866C>G (p.Phe15622Leu)
c.41943C>G (p.Phe13981Leu)
n.1605-1069G>C
c.45963C>G (p.Phe15321Leu)
c.19857C>G (p.Phe6619Leu)
c.19716C>G (p.Phe6572Leu)
c.45759C>G (p.Phe15253Leu)
c.41157C>G (p.Phe13719Leu)
c.41154C>G (p.Phe13718Leu)
c.38196C>G (p.Phe12732Leu)
c.19812C>G (p.Phe6604Leu)
c.41307C>G (p.Phe13769Leu)
c.41304C>G (p.Phe13768Leu)
c.40737C>G (p.Phe13579Leu)
c.38079C>G (p.Phe12693Leu)
c.37998C>G (p.Phe12666Leu)
c.19761C>G (p.Phe6587Leu)
c.9615C>G (p.Phe3205Leu)
 gnomAD v4
2g.178618684G>TCA349621868TTN,TTN-AS1c.39162C>A (p.Phe13054Leu)
c.20247C>A (p.Phe6749Leu)
c.20046C>A (p.Phe6682Leu)
c.19671C>A (p.Phe6557Leu)
c.46866C>A (p.Phe15622Leu)
c.41943C>A (p.Phe13981Leu)
n.1605-1069G>T
c.45963C>A (p.Phe15321Leu)
c.19857C>A (p.Phe6619Leu)
c.19716C>A (p.Phe6572Leu)
c.45759C>A (p.Phe15253Leu)
c.41157C>A (p.Phe13719Leu)
c.41154C>A (p.Phe13718Leu)
c.38196C>A (p.Phe12732Leu)
c.19812C>A (p.Phe6604Leu)
c.41307C>A (p.Phe13769Leu)
c.41304C>A (p.Phe13768Leu)
c.40737C>A (p.Phe13579Leu)
c.38079C>A (p.Phe12693Leu)
c.37998C>A (p.Phe12666Leu)
c.19761C>A (p.Phe6587Leu)
c.9615C>A (p.Phe3205Leu)
2g.178618685A=CA1310551141TTN,TTN-AS1c.39161T= (p.Phe13054=)
c.20246T= (p.Phe6749=)
c.20045T= (p.Phe6682=)
c.19670T= (p.Phe6557=)
c.46865T= (p.Phe15622=)
c.41942T= (p.Phe13981=)
n.1605-1068A=
c.45962T= (p.Phe15321=)
c.19856T= (p.Phe6619=)
c.19715T= (p.Phe6572=)
c.45758T= (p.Phe15253=)
c.41156T= (p.Phe13719=)
c.41153T= (p.Phe13718=)
c.38195T= (p.Phe12732=)
c.19811T= (p.Phe6604=)
c.41306T= (p.Phe13769=)
c.41303T= (p.Phe13768=)
c.40736T= (p.Phe13579=)
c.38078T= (p.Phe12693=)
c.37997T= (p.Phe12666=)
c.19760T= (p.Phe6587=)
c.9614T= (p.Phe3205=)
2g.178618685A>CCA349621873TTN,TTN-AS1c.39161T>G (p.Phe13054Cys)
c.20246T>G (p.Phe6749Cys)
c.20045T>G (p.Phe6682Cys)
c.19670T>G (p.Phe6557Cys)
c.46865T>G (p.Phe15622Cys)
c.41942T>G (p.Phe13981Cys)
n.1605-1068A>C
c.45962T>G (p.Phe15321Cys)
c.19856T>G (p.Phe6619Cys)
c.19715T>G (p.Phe6572Cys)
c.45758T>G (p.Phe15253Cys)
c.41156T>G (p.Phe13719Cys)
c.41153T>G (p.Phe13718Cys)
c.38195T>G (p.Phe12732Cys)
c.19811T>G (p.Phe6604Cys)
c.41306T>G (p.Phe13769Cys)
c.41303T>G (p.Phe13768Cys)
c.40736T>G (p.Phe13579Cys)
c.38078T>G (p.Phe12693Cys)
c.37997T>G (p.Phe12666Cys)
c.19760T>G (p.Phe6587Cys)
c.9614T>G (p.Phe3205Cys)
 dbSNP
2g.178618685A>GCA349621882TTN,TTN-AS1c.39161T>C (p.Phe13054Ser)
c.20246T>C (p.Phe6749Ser)
c.20045T>C (p.Phe6682Ser)
c.19670T>C (p.Phe6557Ser)
c.46865T>C (p.Phe15622Ser)
c.41942T>C (p.Phe13981Ser)
n.1605-1068A>G
c.45962T>C (p.Phe15321Ser)
c.19856T>C (p.Phe6619Ser)
c.19715T>C (p.Phe6572Ser)
c.45758T>C (p.Phe15253Ser)
c.41156T>C (p.Phe13719Ser)
c.41153T>C (p.Phe13718Ser)
c.38195T>C (p.Phe12732Ser)
c.19811T>C (p.Phe6604Ser)
c.41306T>C (p.Phe13769Ser)
c.41303T>C (p.Phe13768Ser)
c.40736T>C (p.Phe13579Ser)
c.38078T>C (p.Phe12693Ser)
c.37997T>C (p.Phe12666Ser)
c.19760T>C (p.Phe6587Ser)
c.9614T>C (p.Phe3205Ser)
2g.178618685A>TCA349621884TTN,TTN-AS1c.39161T>A (p.Phe13054Tyr)
c.20246T>A (p.Phe6749Tyr)
c.20045T>A (p.Phe6682Tyr)
c.19670T>A (p.Phe6557Tyr)
c.46865T>A (p.Phe15622Tyr)
c.41942T>A (p.Phe13981Tyr)
n.1605-1068A>T
c.45962T>A (p.Phe15321Tyr)
c.19856T>A (p.Phe6619Tyr)
c.19715T>A (p.Phe6572Tyr)
c.45758T>A (p.Phe15253Tyr)
c.41156T>A (p.Phe13719Tyr)
c.41153T>A (p.Phe13718Tyr)
c.38195T>A (p.Phe12732Tyr)
c.19811T>A (p.Phe6604Tyr)
c.41306T>A (p.Phe13769Tyr)
c.41303T>A (p.Phe13768Tyr)
c.40736T>A (p.Phe13579Tyr)
c.38078T>A (p.Phe12693Tyr)
c.37997T>A (p.Phe12666Tyr)
c.19760T>A (p.Phe6587Tyr)
c.9614T>A (p.Phe3205Tyr)
2g.178618687delCA2740096130TTN,TTN-AS1c.39161del (p.Phe13054SerfsTer4)
c.20246del (p.Phe6749SerfsTer4)
c.20045del (p.Phe6682SerfsTer4)
c.19670del (p.Phe6557SerfsTer4)
c.46865del (p.Phe15622SerfsTer4)
c.41942del (p.Phe13981SerfsTer4)
n.1605-1066del
c.45962del (p.Phe15321SerfsTer4)
c.19856del (p.Phe6619SerfsTer4)
c.19715del (p.Phe6572SerfsTer4)
c.45758del (p.Phe15253SerfsTer4)
c.41156del (p.Phe13719SerfsTer4)
c.41153del (p.Phe13718SerfsTer4)
c.38195del (p.Phe12732SerfsTer4)
c.19811del (p.Phe6604SerfsTer4)
c.41306del (p.Phe13769SerfsTer4)
c.41303del (p.Phe13768SerfsTer4)
c.40736del (p.Phe13579SerfsTer4)
c.38078del (p.Phe12693SerfsTer4)
c.37997del (p.Phe12666SerfsTer4)
c.19760del (p.Phe6587SerfsTer4)
c.9614del (p.Phe3205SerfsTer4)
 ClinVar
2g.178618685_178618688delinsAAAGCA1310551140TTN,TTN-AS1c.39158_39161delinsCTTT (p.Ser13053=)
c.20243_20246delinsCTTT (p.Ser6748=)
c.20042_20045delinsCTTT (p.Ser6681=)
c.19667_19670delinsCTTT (p.Ser6556=)
c.46862_46865delinsCTTT (p.Ser15621=)
c.41939_41942delinsCTTT (p.Ser13980=)
n.1605-1068_1605-1065delinsAAAG
c.45959_45962delinsCTTT (p.Ser15320=)
c.19853_19856delinsCTTT (p.Ser6618=)
c.19712_19715delinsCTTT (p.Ser6571=)
c.45755_45758delinsCTTT (p.Ser15252=)
c.41153_41156delinsCTTT (p.Ser13718=)
c.41150_41153delinsCTTT (p.Ser13717=)
c.38192_38195delinsCTTT (p.Ser12731=)
c.19808_19811delinsCTTT (p.Ser6603=)
c.41303_41306delinsCTTT (p.Ser13768=)
c.41300_41303delinsCTTT (p.Ser13767=)
c.40733_40736delinsCTTT (p.Ser13578=)
c.38075_38078delinsCTTT (p.Ser12692=)
c.37994_37997delinsCTTT (p.Ser12665=)
c.19757_19760delinsCTTT (p.Ser6586=)
c.9611_9614delinsCTTT (p.Ser3204=)
2g.178618686A=CA1310551142TTN,TTN-AS1c.39160T= (p.Phe13054=)
c.20245T= (p.Phe6749=)
c.20044T= (p.Phe6682=)
c.19669T= (p.Phe6557=)
c.46864T= (p.Phe15622=)
c.41941T= (p.Phe13981=)
n.1605-1067A=
c.45961T= (p.Phe15321=)
c.19855T= (p.Phe6619=)
c.19714T= (p.Phe6572=)
c.45757T= (p.Phe15253=)
c.41155T= (p.Phe13719=)
c.41152T= (p.Phe13718=)
c.38194T= (p.Phe12732=)
c.19810T= (p.Phe6604=)
c.41305T= (p.Phe13769=)
c.41302T= (p.Phe13768=)
c.40735T= (p.Phe13579=)
c.38077T= (p.Phe12693=)
c.37996T= (p.Phe12666=)
c.19759T= (p.Phe6587=)
c.9613T= (p.Phe3205=)
2g.178618686A>CCA349621887TTN,TTN-AS1c.39160T>G (p.Phe13054Val)
c.20245T>G (p.Phe6749Val)
c.20044T>G (p.Phe6682Val)
c.19669T>G (p.Phe6557Val)
c.46864T>G (p.Phe15622Val)
c.41941T>G (p.Phe13981Val)
n.1605-1067A>C
c.45961T>G (p.Phe15321Val)
c.19855T>G (p.Phe6619Val)
c.19714T>G (p.Phe6572Val)
c.45757T>G (p.Phe15253Val)
c.41155T>G (p.Phe13719Val)
c.41152T>G (p.Phe13718Val)
c.38194T>G (p.Phe12732Val)
c.19810T>G (p.Phe6604Val)
c.41305T>G (p.Phe13769Val)
c.41302T>G (p.Phe13768Val)
c.40735T>G (p.Phe13579Val)
c.38077T>G (p.Phe12693Val)
c.37996T>G (p.Phe12666Val)
c.19759T>G (p.Phe6587Val)
c.9613T>G (p.Phe3205Val)
2g.178618686A>GCA1995158TTN,TTN-AS1c.39160T>C (p.Phe13054Leu)
c.20245T>C (p.Phe6749Leu)
c.20044T>C (p.Phe6682Leu)
c.19669T>C (p.Phe6557Leu)
c.46864T>C (p.Phe15622Leu)
c.41941T>C (p.Phe13981Leu)
n.1605-1067A>G
c.45961T>C (p.Phe15321Leu)
c.19855T>C (p.Phe6619Leu)
c.19714T>C (p.Phe6572Leu)
c.45757T>C (p.Phe15253Leu)
c.41155T>C (p.Phe13719Leu)
c.41152T>C (p.Phe13718Leu)
c.38194T>C (p.Phe12732Leu)
c.19810T>C (p.Phe6604Leu)
c.41305T>C (p.Phe13769Leu)
c.41302T>C (p.Phe13768Leu)
c.40735T>C (p.Phe13579Leu)
c.38077T>C (p.Phe12693Leu)
c.37996T>C (p.Phe12666Leu)
c.19759T>C (p.Phe6587Leu)
c.9613T>C (p.Phe3205Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618686A>TCA349621889TTN,TTN-AS1c.39160T>A (p.Phe13054Ile)
c.20245T>A (p.Phe6749Ile)
c.20044T>A (p.Phe6682Ile)
c.19669T>A (p.Phe6557Ile)
c.46864T>A (p.Phe15622Ile)
c.41941T>A (p.Phe13981Ile)
n.1605-1067A>T
c.45961T>A (p.Phe15321Ile)
c.19855T>A (p.Phe6619Ile)
c.19714T>A (p.Phe6572Ile)
c.45757T>A (p.Phe15253Ile)
c.41155T>A (p.Phe13719Ile)
c.41152T>A (p.Phe13718Ile)
c.38194T>A (p.Phe12732Ile)
c.19810T>A (p.Phe6604Ile)
c.41305T>A (p.Phe13769Ile)
c.41302T>A (p.Phe13768Ile)
c.40735T>A (p.Phe13579Ile)
c.38077T>A (p.Phe12693Ile)
c.37996T>A (p.Phe12666Ile)
c.19759T>A (p.Phe6587Ile)
c.9613T>A (p.Phe3205Ile)
2g.178618689_178618691delCA916720276TTN,TTN-AS1c.39158_39160del (p.Ser13053del)
c.20243_20245del (p.Ser6748del)
c.20042_20044del (p.Ser6681del)
c.19667_19669del (p.Ser6556del)
c.46862_46864del (p.Ser15621del)
c.41939_41941del (p.Ser13980del)
n.1605-1064_1605-1062del
c.45959_45961del (p.Ser15320del)
c.19853_19855del (p.Ser6618del)
c.19712_19714del (p.Ser6571del)
c.45755_45757del (p.Ser15252del)
c.41153_41155del (p.Ser13718del)
c.41150_41152del (p.Ser13717del)
c.38192_38194del (p.Ser12731del)
c.19808_19810del (p.Ser6603del)
c.41303_41305del (p.Ser13768del)
c.41300_41302del (p.Ser13767del)
c.40733_40735del (p.Ser13578del)
c.38075_38077del (p.Ser12692del)
c.37994_37996del (p.Ser12665del)
c.19757_19759del (p.Ser6586del)
c.9611_9613del (p.Ser3204del)
 dbSNP
2g.178618687A=CA1310551143TTN,TTN-AS1c.39159T= (p.Ser13053=)
c.20244T= (p.Ser6748=)
c.20043T= (p.Ser6681=)
c.19668T= (p.Ser6556=)
c.46863T= (p.Ser15621=)
c.41940T= (p.Ser13980=)
n.1605-1066A=
c.45960T= (p.Ser15320=)
c.19854T= (p.Ser6618=)
c.19713T= (p.Ser6571=)
c.45756T= (p.Ser15252=)
c.41154T= (p.Ser13718=)
c.41151T= (p.Ser13717=)
c.38193T= (p.Ser12731=)
c.19809T= (p.Ser6603=)
c.41304T= (p.Ser13768=)
c.41301T= (p.Ser13767=)
c.40734T= (p.Ser13578=)
c.38076T= (p.Ser12692=)
c.37995T= (p.Ser12665=)
c.19758T= (p.Ser6586=)
c.9612T= (p.Ser3204=)
2g.178618687A>CCA430274864TTN,TTN-AS1c.39159T>G (p.Ser13053=)
c.20244T>G (p.Ser6748=)
c.20043T>G (p.Ser6681=)
c.19668T>G (p.Ser6556=)
c.46863T>G (p.Ser15621=)
c.41940T>G (p.Ser13980=)
n.1605-1066A>C
c.45960T>G (p.Ser15320=)
c.19854T>G (p.Ser6618=)
c.19713T>G (p.Ser6571=)
c.45756T>G (p.Ser15252=)
c.41154T>G (p.Ser13718=)
c.41151T>G (p.Ser13717=)
c.38193T>G (p.Ser12731=)
c.19809T>G (p.Ser6603=)
c.41304T>G (p.Ser13768=)
c.41301T>G (p.Ser13767=)
c.40734T>G (p.Ser13578=)
c.38076T>G (p.Ser12692=)
c.37995T>G (p.Ser12665=)
c.19758T>G (p.Ser6586=)
c.9612T>G (p.Ser3204=)
2g.178618687A>GCA430274866TTN,TTN-AS1c.39159T>C (p.Ser13053=)
c.20244T>C (p.Ser6748=)
c.20043T>C (p.Ser6681=)
c.19668T>C (p.Ser6556=)
c.46863T>C (p.Ser15621=)
c.41940T>C (p.Ser13980=)
n.1605-1066A>G
c.45960T>C (p.Ser15320=)
c.19854T>C (p.Ser6618=)
c.19713T>C (p.Ser6571=)
c.45756T>C (p.Ser15252=)
c.41154T>C (p.Ser13718=)
c.41151T>C (p.Ser13717=)
c.38193T>C (p.Ser12731=)
c.19809T>C (p.Ser6603=)
c.41304T>C (p.Ser13768=)
c.41301T>C (p.Ser13767=)
c.40734T>C (p.Ser13578=)
c.38076T>C (p.Ser12692=)
c.37995T>C (p.Ser12665=)
c.19758T>C (p.Ser6586=)
c.9612T>C (p.Ser3204=)
 dbSNP gnomAD v2
2g.178618687A>TCA430274865TTN,TTN-AS1c.39159T>A (p.Ser13053=)
c.20244T>A (p.Ser6748=)
c.20043T>A (p.Ser6681=)
c.19668T>A (p.Ser6556=)
c.46863T>A (p.Ser15621=)
c.41940T>A (p.Ser13980=)
n.1605-1066A>T
c.45960T>A (p.Ser15320=)
c.19854T>A (p.Ser6618=)
c.19713T>A (p.Ser6571=)
c.45756T>A (p.Ser15252=)
c.41154T>A (p.Ser13718=)
c.41151T>A (p.Ser13717=)
c.38193T>A (p.Ser12731=)
c.19809T>A (p.Ser6603=)
c.41304T>A (p.Ser13768=)
c.41301T>A (p.Ser13767=)
c.40734T>A (p.Ser13578=)
c.38076T>A (p.Ser12692=)
c.37995T>A (p.Ser12665=)
c.19758T>A (p.Ser6586=)
c.9612T>A (p.Ser3204=)
2g.178618688G>ACA349621897TTN,TTN-AS1c.39158C>T (p.Ser13053Phe)
c.20243C>T (p.Ser6748Phe)
c.20042C>T (p.Ser6681Phe)
c.19667C>T (p.Ser6556Phe)
c.46862C>T (p.Ser15621Phe)
c.41939C>T (p.Ser13980Phe)
n.1605-1065G>A
c.45959C>T (p.Ser15320Phe)
c.19853C>T (p.Ser6618Phe)
c.19712C>T (p.Ser6571Phe)
c.45755C>T (p.Ser15252Phe)
c.41153C>T (p.Ser13718Phe)
c.41150C>T (p.Ser13717Phe)
c.38192C>T (p.Ser12731Phe)
c.19808C>T (p.Ser6603Phe)
c.41303C>T (p.Ser13768Phe)
c.41300C>T (p.Ser13767Phe)
c.40733C>T (p.Ser13578Phe)
c.38075C>T (p.Ser12692Phe)
c.37994C>T (p.Ser12665Phe)
c.19757C>T (p.Ser6586Phe)
c.9611C>T (p.Ser3204Phe)
2g.178618688G>CCA349621900TTN,TTN-AS1c.39158C>G (p.Ser13053Cys)
c.20243C>G (p.Ser6748Cys)
c.20042C>G (p.Ser6681Cys)
c.19667C>G (p.Ser6556Cys)
c.46862C>G (p.Ser15621Cys)
c.41939C>G (p.Ser13980Cys)
n.1605-1065G>C
c.45959C>G (p.Ser15320Cys)
c.19853C>G (p.Ser6618Cys)
c.19712C>G (p.Ser6571Cys)
c.45755C>G (p.Ser15252Cys)
c.41153C>G (p.Ser13718Cys)
c.41150C>G (p.Ser13717Cys)
c.38192C>G (p.Ser12731Cys)
c.19808C>G (p.Ser6603Cys)
c.41303C>G (p.Ser13768Cys)
c.41300C>G (p.Ser13767Cys)
c.40733C>G (p.Ser13578Cys)
c.38075C>G (p.Ser12692Cys)
c.37994C>G (p.Ser12665Cys)
c.19757C>G (p.Ser6586Cys)
c.9611C>G (p.Ser3204Cys)
2g.178618688G>TCA349621898TTN,TTN-AS1c.39158C>A (p.Ser13053Tyr)
c.20243C>A (p.Ser6748Tyr)
c.20042C>A (p.Ser6681Tyr)
c.19667C>A (p.Ser6556Tyr)
c.46862C>A (p.Ser15621Tyr)
c.41939C>A (p.Ser13980Tyr)
n.1605-1065G>T
c.45959C>A (p.Ser15320Tyr)
c.19853C>A (p.Ser6618Tyr)
c.19712C>A (p.Ser6571Tyr)
c.45755C>A (p.Ser15252Tyr)
c.41153C>A (p.Ser13718Tyr)
c.41150C>A (p.Ser13717Tyr)
c.38192C>A (p.Ser12731Tyr)
c.19808C>A (p.Ser6603Tyr)
c.41303C>A (p.Ser13768Tyr)
c.41300C>A (p.Ser13767Tyr)
c.40733C>A (p.Ser13578Tyr)
c.38075C>A (p.Ser12692Tyr)
c.37994C>A (p.Ser12665Tyr)
c.19757C>A (p.Ser6586Tyr)
c.9611C>A (p.Ser3204Tyr)
2g.178618689A>CCA349621905TTN,TTN-AS1c.39157T>G (p.Ser13053Ala)
c.20242T>G (p.Ser6748Ala)
c.20041T>G (p.Ser6681Ala)
c.19666T>G (p.Ser6556Ala)
c.46861T>G (p.Ser15621Ala)
c.41938T>G (p.Ser13980Ala)
n.1605-1064A>C
c.45958T>G (p.Ser15320Ala)
c.19852T>G (p.Ser6618Ala)
c.19711T>G (p.Ser6571Ala)
c.45754T>G (p.Ser15252Ala)
c.41152T>G (p.Ser13718Ala)
c.41149T>G (p.Ser13717Ala)
c.38191T>G (p.Ser12731Ala)
c.19807T>G (p.Ser6603Ala)
c.41302T>G (p.Ser13768Ala)
c.41299T>G (p.Ser13767Ala)
c.40732T>G (p.Ser13578Ala)
c.38074T>G (p.Ser12692Ala)
c.37993T>G (p.Ser12665Ala)
c.19756T>G (p.Ser6586Ala)
c.9610T>G (p.Ser3204Ala)
 gnomAD v4
2g.178618689A>GCA349621907TTN,TTN-AS1c.39157T>C (p.Ser13053Pro)
c.20242T>C (p.Ser6748Pro)
c.20041T>C (p.Ser6681Pro)
c.19666T>C (p.Ser6556Pro)
c.46861T>C (p.Ser15621Pro)
c.41938T>C (p.Ser13980Pro)
n.1605-1064A>G
c.45958T>C (p.Ser15320Pro)
c.19852T>C (p.Ser6618Pro)
c.19711T>C (p.Ser6571Pro)
c.45754T>C (p.Ser15252Pro)
c.41152T>C (p.Ser13718Pro)
c.41149T>C (p.Ser13717Pro)
c.38191T>C (p.Ser12731Pro)
c.19807T>C (p.Ser6603Pro)
c.41302T>C (p.Ser13768Pro)
c.41299T>C (p.Ser13767Pro)
c.40732T>C (p.Ser13578Pro)
c.38074T>C (p.Ser12692Pro)
c.37993T>C (p.Ser12665Pro)
c.19756T>C (p.Ser6586Pro)
c.9610T>C (p.Ser3204Pro)
2g.178618689A>TCA349621906TTN,TTN-AS1c.39157T>A (p.Ser13053Thr)
c.20242T>A (p.Ser6748Thr)
c.20041T>A (p.Ser6681Thr)
c.19666T>A (p.Ser6556Thr)
c.46861T>A (p.Ser15621Thr)
c.41938T>A (p.Ser13980Thr)
n.1605-1064A>T
c.45958T>A (p.Ser15320Thr)
c.19852T>A (p.Ser6618Thr)
c.19711T>A (p.Ser6571Thr)
c.45754T>A (p.Ser15252Thr)
c.41152T>A (p.Ser13718Thr)
c.41149T>A (p.Ser13717Thr)
c.38191T>A (p.Ser12731Thr)
c.19807T>A (p.Ser6603Thr)
c.41302T>A (p.Ser13768Thr)
c.41299T>A (p.Ser13767Thr)
c.40732T>A (p.Ser13578Thr)
c.38074T>A (p.Ser12692Thr)
c.37993T>A (p.Ser12665Thr)
c.19756T>A (p.Ser6586Thr)
c.9610T>A (p.Ser3204Thr)
2g.178618690A>CCA430274870TTN,TTN-AS1c.39156T>G (p.Thr13052=)
c.20241T>G (p.Thr6747=)
c.20040T>G (p.Thr6680=)
c.19665T>G (p.Thr6555=)
c.46860T>G (p.Thr15620=)
c.41937T>G (p.Thr13979=)
n.1605-1063A>C
c.45957T>G (p.Thr15319=)
c.19851T>G (p.Thr6617=)
c.19710T>G (p.Thr6570=)
c.45753T>G (p.Thr15251=)
c.41151T>G (p.Thr13717=)
c.41148T>G (p.Thr13716=)
c.38190T>G (p.Thr12730=)
c.19806T>G (p.Thr6602=)
c.41301T>G (p.Thr13767=)
c.41298T>G (p.Thr13766=)
c.40731T>G (p.Thr13577=)
c.38073T>G (p.Thr12691=)
c.37992T>G (p.Thr12664=)
c.19755T>G (p.Thr6585=)
c.9609T>G (p.Thr3203=)
2g.178618690A>GCA430274871TTN,TTN-AS1c.39156T>C (p.Thr13052=)
c.20241T>C (p.Thr6747=)
c.20040T>C (p.Thr6680=)
c.19665T>C (p.Thr6555=)
c.46860T>C (p.Thr15620=)
c.41937T>C (p.Thr13979=)
n.1605-1063A>G
c.45957T>C (p.Thr15319=)
c.19851T>C (p.Thr6617=)
c.19710T>C (p.Thr6570=)
c.45753T>C (p.Thr15251=)
c.41151T>C (p.Thr13717=)
c.41148T>C (p.Thr13716=)
c.38190T>C (p.Thr12730=)
c.19806T>C (p.Thr6602=)
c.41301T>C (p.Thr13767=)
c.41298T>C (p.Thr13766=)
c.40731T>C (p.Thr13577=)
c.38073T>C (p.Thr12691=)
c.37992T>C (p.Thr12664=)
c.19755T>C (p.Thr6585=)
c.9609T>C (p.Thr3203=)
2g.178618690A>TCA430274872TTN,TTN-AS1c.39156T>A (p.Thr13052=)
c.20241T>A (p.Thr6747=)
c.20040T>A (p.Thr6680=)
c.19665T>A (p.Thr6555=)
c.46860T>A (p.Thr15620=)
c.41937T>A (p.Thr13979=)
n.1605-1063A>T
c.45957T>A (p.Thr15319=)
c.19851T>A (p.Thr6617=)
c.19710T>A (p.Thr6570=)
c.45753T>A (p.Thr15251=)
c.41151T>A (p.Thr13717=)
c.41148T>A (p.Thr13716=)
c.38190T>A (p.Thr12730=)
c.19806T>A (p.Thr6602=)
c.41301T>A (p.Thr13767=)
c.41298T>A (p.Thr13766=)
c.40731T>A (p.Thr13577=)
c.38073T>A (p.Thr12691=)
c.37992T>A (p.Thr12664=)
c.19755T>A (p.Thr6585=)
c.9609T>A (p.Thr3203=)

Number of alleles fetched