Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614644T>ACA430273844TTN,TTN-AS1c.41166A>T (p.Ile13722=)
c.22251A>T (p.Ile7417=)
c.22050A>T (p.Ile7350=)
c.21675A>T (p.Ile7225=)
c.48870A>T (p.Ile16290=)
c.43947A>T (p.Ile14649=)
n.1392T>A
c.47967A>T (p.Ile15989=)
c.21861A>T (p.Ile7287=)
c.21720A>T (p.Ile7240=)
c.47763A>T (p.Ile15921=)
c.43161A>T (p.Ile14387=)
c.43158A>T (p.Ile14386=)
c.40200A>T (p.Ile13400=)
c.21816A>T (p.Ile7272=)
c.43311A>T (p.Ile14437=)
c.43308A>T (p.Ile14436=)
c.42741A>T (p.Ile14247=)
c.40083A>T (p.Ile13361=)
c.40002A>T (p.Ile13334=)
c.21765A>T (p.Ile7255=)
c.11619A>T (p.Ile3873=)
2g.178614644T>CCA349607646TTN,TTN-AS1c.41166A>G (p.Ile13722Met)
c.22251A>G (p.Ile7417Met)
c.22050A>G (p.Ile7350Met)
c.21675A>G (p.Ile7225Met)
c.48870A>G (p.Ile16290Met)
c.43947A>G (p.Ile14649Met)
n.1392T>C
c.47967A>G (p.Ile15989Met)
c.21861A>G (p.Ile7287Met)
c.21720A>G (p.Ile7240Met)
c.47763A>G (p.Ile15921Met)
c.43161A>G (p.Ile14387Met)
c.43158A>G (p.Ile14386Met)
c.40200A>G (p.Ile13400Met)
c.21816A>G (p.Ile7272Met)
c.43311A>G (p.Ile14437Met)
c.43308A>G (p.Ile14436Met)
c.42741A>G (p.Ile14247Met)
c.40083A>G (p.Ile13361Met)
c.40002A>G (p.Ile13334Met)
c.21765A>G (p.Ile7255Met)
c.11619A>G (p.Ile3873Met)
2g.178614644T>GCA430273854TTN,TTN-AS1c.41166A>C (p.Ile13722=)
c.22251A>C (p.Ile7417=)
c.22050A>C (p.Ile7350=)
c.21675A>C (p.Ile7225=)
c.48870A>C (p.Ile16290=)
c.43947A>C (p.Ile14649=)
n.1392T>G
c.47967A>C (p.Ile15989=)
c.21861A>C (p.Ile7287=)
c.21720A>C (p.Ile7240=)
c.47763A>C (p.Ile15921=)
c.43161A>C (p.Ile14387=)
c.43158A>C (p.Ile14386=)
c.40200A>C (p.Ile13400=)
c.21816A>C (p.Ile7272=)
c.43311A>C (p.Ile14437=)
c.43308A>C (p.Ile14436=)
c.42741A>C (p.Ile14247=)
c.40083A>C (p.Ile13361=)
c.40002A>C (p.Ile13334=)
c.21765A>C (p.Ile7255=)
c.11619A>C (p.Ile3873=)
2g.178614645A>CCA349607649TTN,TTN-AS1c.41165T>G (p.Ile13722Arg)
c.22250T>G (p.Ile7417Arg)
c.22049T>G (p.Ile7350Arg)
c.21674T>G (p.Ile7225Arg)
c.48869T>G (p.Ile16290Arg)
c.43946T>G (p.Ile14649Arg)
n.1393A>C
c.47966T>G (p.Ile15989Arg)
c.21860T>G (p.Ile7287Arg)
c.21719T>G (p.Ile7240Arg)
c.47762T>G (p.Ile15921Arg)
c.43160T>G (p.Ile14387Arg)
c.43157T>G (p.Ile14386Arg)
c.40199T>G (p.Ile13400Arg)
c.21815T>G (p.Ile7272Arg)
c.43310T>G (p.Ile14437Arg)
c.43307T>G (p.Ile14436Arg)
c.42740T>G (p.Ile14247Arg)
c.40082T>G (p.Ile13361Arg)
c.40001T>G (p.Ile13334Arg)
c.21764T>G (p.Ile7255Arg)
c.11618T>G (p.Ile3873Arg)
2g.178614645A>GCA349607650TTN,TTN-AS1c.41165T>C (p.Ile13722Thr)
c.22250T>C (p.Ile7417Thr)
c.22049T>C (p.Ile7350Thr)
c.21674T>C (p.Ile7225Thr)
c.48869T>C (p.Ile16290Thr)
c.43946T>C (p.Ile14649Thr)
n.1393A>G
c.47966T>C (p.Ile15989Thr)
c.21860T>C (p.Ile7287Thr)
c.21719T>C (p.Ile7240Thr)
c.47762T>C (p.Ile15921Thr)
c.43160T>C (p.Ile14387Thr)
c.43157T>C (p.Ile14386Thr)
c.40199T>C (p.Ile13400Thr)
c.21815T>C (p.Ile7272Thr)
c.43310T>C (p.Ile14437Thr)
c.43307T>C (p.Ile14436Thr)
c.42740T>C (p.Ile14247Thr)
c.40082T>C (p.Ile13361Thr)
c.40001T>C (p.Ile13334Thr)
c.21764T>C (p.Ile7255Thr)
c.11618T>C (p.Ile3873Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178614645A>TCA349607652TTN,TTN-AS1c.41165T>A (p.Ile13722Lys)
c.22250T>A (p.Ile7417Lys)
c.22049T>A (p.Ile7350Lys)
c.21674T>A (p.Ile7225Lys)
c.48869T>A (p.Ile16290Lys)
c.43946T>A (p.Ile14649Lys)
n.1393A>T
c.47966T>A (p.Ile15989Lys)
c.21860T>A (p.Ile7287Lys)
c.21719T>A (p.Ile7240Lys)
c.47762T>A (p.Ile15921Lys)
c.43160T>A (p.Ile14387Lys)
c.43157T>A (p.Ile14386Lys)
c.40199T>A (p.Ile13400Lys)
c.21815T>A (p.Ile7272Lys)
c.43310T>A (p.Ile14437Lys)
c.43307T>A (p.Ile14436Lys)
c.42740T>A (p.Ile14247Lys)
c.40082T>A (p.Ile13361Lys)
c.40001T>A (p.Ile13334Lys)
c.21764T>A (p.Ile7255Lys)
c.11618T>A (p.Ile3873Lys)
2g.178614646T>ACA349607655TTN,TTN-AS1c.41164A>T (p.Ile13722Leu)
c.22249A>T (p.Ile7417Leu)
c.22048A>T (p.Ile7350Leu)
c.21673A>T (p.Ile7225Leu)
c.48868A>T (p.Ile16290Leu)
c.43945A>T (p.Ile14649Leu)
n.1394T>A
c.47965A>T (p.Ile15989Leu)
c.21859A>T (p.Ile7287Leu)
c.21718A>T (p.Ile7240Leu)
c.47761A>T (p.Ile15921Leu)
c.43159A>T (p.Ile14387Leu)
c.43156A>T (p.Ile14386Leu)
c.40198A>T (p.Ile13400Leu)
c.21814A>T (p.Ile7272Leu)
c.43309A>T (p.Ile14437Leu)
c.43306A>T (p.Ile14436Leu)
c.42739A>T (p.Ile14247Leu)
c.40081A>T (p.Ile13361Leu)
c.40000A>T (p.Ile13334Leu)
c.21763A>T (p.Ile7255Leu)
c.11617A>T (p.Ile3873Leu)
2g.178614646T>CCA1994730TTN,TTN-AS1c.41164A>G (p.Ile13722Val)
c.22249A>G (p.Ile7417Val)
c.22048A>G (p.Ile7350Val)
c.21673A>G (p.Ile7225Val)
c.48868A>G (p.Ile16290Val)
c.43945A>G (p.Ile14649Val)
n.1394T>C
c.47965A>G (p.Ile15989Val)
c.21859A>G (p.Ile7287Val)
c.21718A>G (p.Ile7240Val)
c.47761A>G (p.Ile15921Val)
c.43159A>G (p.Ile14387Val)
c.43156A>G (p.Ile14386Val)
c.40198A>G (p.Ile13400Val)
c.21814A>G (p.Ile7272Val)
c.43309A>G (p.Ile14437Val)
c.43306A>G (p.Ile14436Val)
c.42739A>G (p.Ile14247Val)
c.40081A>G (p.Ile13361Val)
c.40000A>G (p.Ile13334Val)
c.21763A>G (p.Ile7255Val)
c.11617A>G (p.Ile3873Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614646T>GCA349607657TTN,TTN-AS1c.41164A>C (p.Ile13722Leu)
c.22249A>C (p.Ile7417Leu)
c.22048A>C (p.Ile7350Leu)
c.21673A>C (p.Ile7225Leu)
c.48868A>C (p.Ile16290Leu)
c.43945A>C (p.Ile14649Leu)
n.1394T>G
c.47965A>C (p.Ile15989Leu)
c.21859A>C (p.Ile7287Leu)
c.21718A>C (p.Ile7240Leu)
c.47761A>C (p.Ile15921Leu)
c.43159A>C (p.Ile14387Leu)
c.43156A>C (p.Ile14386Leu)
c.40198A>C (p.Ile13400Leu)
c.21814A>C (p.Ile7272Leu)
c.43309A>C (p.Ile14437Leu)
c.43306A>C (p.Ile14436Leu)
c.42739A>C (p.Ile14247Leu)
c.40081A>C (p.Ile13361Leu)
c.40000A>C (p.Ile13334Leu)
c.21763A>C (p.Ile7255Leu)
c.11617A>C (p.Ile3873Leu)
2g.178614646T=CA1310549452TTN,TTN-AS1c.41164A= (p.Ile13722=)
c.22249A= (p.Ile7417=)
c.22048A= (p.Ile7350=)
c.21673A= (p.Ile7225=)
c.48868A= (p.Ile16290=)
c.43945A= (p.Ile14649=)
n.1394T=
c.47965A= (p.Ile15989=)
c.21859A= (p.Ile7287=)
c.21718A= (p.Ile7240=)
c.47761A= (p.Ile15921=)
c.43159A= (p.Ile14387=)
c.43156A= (p.Ile14386=)
c.40198A= (p.Ile13400=)
c.21814A= (p.Ile7272=)
c.43309A= (p.Ile14437=)
c.43306A= (p.Ile14436=)
c.42739A= (p.Ile14247=)
c.40081A= (p.Ile13361=)
c.40000A= (p.Ile13334=)
c.21763A= (p.Ile7255=)
c.11617A= (p.Ile3873=)
2g.178614647T>ACA349607660TTN,TTN-AS1c.41163A>T (p.Lys13721Asn)
c.22248A>T (p.Lys7416Asn)
c.22047A>T (p.Lys7349Asn)
c.21672A>T (p.Lys7224Asn)
c.48867A>T (p.Lys16289Asn)
c.43944A>T (p.Lys14648Asn)
n.1395T>A
c.47964A>T (p.Lys15988Asn)
c.21858A>T (p.Lys7286Asn)
c.21717A>T (p.Lys7239Asn)
c.47760A>T (p.Lys15920Asn)
c.43158A>T (p.Lys14386Asn)
c.43155A>T (p.Lys14385Asn)
c.40197A>T (p.Lys13399Asn)
c.21813A>T (p.Lys7271Asn)
c.43308A>T (p.Lys14436Asn)
c.43305A>T (p.Lys14435Asn)
c.42738A>T (p.Lys14246Asn)
c.40080A>T (p.Lys13360Asn)
c.39999A>T (p.Lys13333Asn)
c.21762A>T (p.Lys7254Asn)
c.11616A>T (p.Lys3872Asn)
2g.178614647T>CCA430273859TTN,TTN-AS1c.41163A>G (p.Lys13721=)
c.22248A>G (p.Lys7416=)
c.22047A>G (p.Lys7349=)
c.21672A>G (p.Lys7224=)
c.48867A>G (p.Lys16289=)
c.43944A>G (p.Lys14648=)
n.1395T>C
c.47964A>G (p.Lys15988=)
c.21858A>G (p.Lys7286=)
c.21717A>G (p.Lys7239=)
c.47760A>G (p.Lys15920=)
c.43158A>G (p.Lys14386=)
c.43155A>G (p.Lys14385=)
c.40197A>G (p.Lys13399=)
c.21813A>G (p.Lys7271=)
c.43308A>G (p.Lys14436=)
c.43305A>G (p.Lys14435=)
c.42738A>G (p.Lys14246=)
c.40080A>G (p.Lys13360=)
c.39999A>G (p.Lys13333=)
c.21762A>G (p.Lys7254=)
c.11616A>G (p.Lys3872=)
2g.178614647T>GCA349607662TTN,TTN-AS1c.41163A>C (p.Lys13721Asn)
c.22248A>C (p.Lys7416Asn)
c.22047A>C (p.Lys7349Asn)
c.21672A>C (p.Lys7224Asn)
c.48867A>C (p.Lys16289Asn)
c.43944A>C (p.Lys14648Asn)
n.1395T>G
c.47964A>C (p.Lys15988Asn)
c.21858A>C (p.Lys7286Asn)
c.21717A>C (p.Lys7239Asn)
c.47760A>C (p.Lys15920Asn)
c.43158A>C (p.Lys14386Asn)
c.43155A>C (p.Lys14385Asn)
c.40197A>C (p.Lys13399Asn)
c.21813A>C (p.Lys7271Asn)
c.43308A>C (p.Lys14436Asn)
c.43305A>C (p.Lys14435Asn)
c.42738A>C (p.Lys14246Asn)
c.40080A>C (p.Lys13360Asn)
c.39999A>C (p.Lys13333Asn)
c.21762A>C (p.Lys7254Asn)
c.11616A>C (p.Lys3872Asn)
2g.178614648T>ACA349607664TTN,TTN-AS1c.41162A>T (p.Lys13721Ile)
c.22247A>T (p.Lys7416Ile)
c.22046A>T (p.Lys7349Ile)
c.21671A>T (p.Lys7224Ile)
c.48866A>T (p.Lys16289Ile)
c.43943A>T (p.Lys14648Ile)
n.1396T>A
c.47963A>T (p.Lys15988Ile)
c.21857A>T (p.Lys7286Ile)
c.21716A>T (p.Lys7239Ile)
c.47759A>T (p.Lys15920Ile)
c.43157A>T (p.Lys14386Ile)
c.43154A>T (p.Lys14385Ile)
c.40196A>T (p.Lys13399Ile)
c.21812A>T (p.Lys7271Ile)
c.43307A>T (p.Lys14436Ile)
c.43304A>T (p.Lys14435Ile)
c.42737A>T (p.Lys14246Ile)
c.40079A>T (p.Lys13360Ile)
c.39998A>T (p.Lys13333Ile)
c.21761A>T (p.Lys7254Ile)
c.11615A>T (p.Lys3872Ile)
2g.178614648T>CCA349607666TTN,TTN-AS1c.41162A>G (p.Lys13721Arg)
c.22247A>G (p.Lys7416Arg)
c.22046A>G (p.Lys7349Arg)
c.21671A>G (p.Lys7224Arg)
c.48866A>G (p.Lys16289Arg)
c.43943A>G (p.Lys14648Arg)
n.1396T>C
c.47963A>G (p.Lys15988Arg)
c.21857A>G (p.Lys7286Arg)
c.21716A>G (p.Lys7239Arg)
c.47759A>G (p.Lys15920Arg)
c.43157A>G (p.Lys14386Arg)
c.43154A>G (p.Lys14385Arg)
c.40196A>G (p.Lys13399Arg)
c.21812A>G (p.Lys7271Arg)
c.43307A>G (p.Lys14436Arg)
c.43304A>G (p.Lys14435Arg)
c.42737A>G (p.Lys14246Arg)
c.40079A>G (p.Lys13360Arg)
c.39998A>G (p.Lys13333Arg)
c.21761A>G (p.Lys7254Arg)
c.11615A>G (p.Lys3872Arg)
2g.178614648T>GCA349607668TTN,TTN-AS1c.41162A>C (p.Lys13721Thr)
c.22247A>C (p.Lys7416Thr)
c.22046A>C (p.Lys7349Thr)
c.21671A>C (p.Lys7224Thr)
c.48866A>C (p.Lys16289Thr)
c.43943A>C (p.Lys14648Thr)
n.1396T>G
c.47963A>C (p.Lys15988Thr)
c.21857A>C (p.Lys7286Thr)
c.21716A>C (p.Lys7239Thr)
c.47759A>C (p.Lys15920Thr)
c.43157A>C (p.Lys14386Thr)
c.43154A>C (p.Lys14385Thr)
c.40196A>C (p.Lys13399Thr)
c.21812A>C (p.Lys7271Thr)
c.43307A>C (p.Lys14436Thr)
c.43304A>C (p.Lys14435Thr)
c.42737A>C (p.Lys14246Thr)
c.40079A>C (p.Lys13360Thr)
c.39998A>C (p.Lys13333Thr)
c.21761A>C (p.Lys7254Thr)
c.11615A>C (p.Lys3872Thr)
 gnomAD v4
2g.178614649T>ACA349607674TTN,TTN-AS1c.41161A>T (p.Lys13721Ter)
c.22246A>T (p.Lys7416Ter)
c.22045A>T (p.Lys7349Ter)
c.21670A>T (p.Lys7224Ter)
c.48865A>T (p.Lys16289Ter)
c.43942A>T (p.Lys14648Ter)
n.1397T>A
c.47962A>T (p.Lys15988Ter)
c.21856A>T (p.Lys7286Ter)
c.21715A>T (p.Lys7239Ter)
c.47758A>T (p.Lys15920Ter)
c.43156A>T (p.Lys14386Ter)
c.43153A>T (p.Lys14385Ter)
c.40195A>T (p.Lys13399Ter)
c.21811A>T (p.Lys7271Ter)
c.43306A>T (p.Lys14436Ter)
c.43303A>T (p.Lys14435Ter)
c.42736A>T (p.Lys14246Ter)
c.40078A>T (p.Lys13360Ter)
c.39997A>T (p.Lys13333Ter)
c.21760A>T (p.Lys7254Ter)
c.11614A>T (p.Lys3872Ter)
2g.178614649T>CCA349607672TTN,TTN-AS1c.41161A>G (p.Lys13721Glu)
c.22246A>G (p.Lys7416Glu)
c.22045A>G (p.Lys7349Glu)
c.21670A>G (p.Lys7224Glu)
c.48865A>G (p.Lys16289Glu)
c.43942A>G (p.Lys14648Glu)
n.1397T>C
c.47962A>G (p.Lys15988Glu)
c.21856A>G (p.Lys7286Glu)
c.21715A>G (p.Lys7239Glu)
c.47758A>G (p.Lys15920Glu)
c.43156A>G (p.Lys14386Glu)
c.43153A>G (p.Lys14385Glu)
c.40195A>G (p.Lys13399Glu)
c.21811A>G (p.Lys7271Glu)
c.43306A>G (p.Lys14436Glu)
c.43303A>G (p.Lys14435Glu)
c.42736A>G (p.Lys14246Glu)
c.40078A>G (p.Lys13360Glu)
c.39997A>G (p.Lys13333Glu)
c.21760A>G (p.Lys7254Glu)
c.11614A>G (p.Lys3872Glu)
 dbSNP
2g.178614649T>GCA349607670TTN,TTN-AS1c.41161A>C (p.Lys13721Gln)
c.22246A>C (p.Lys7416Gln)
c.22045A>C (p.Lys7349Gln)
c.21670A>C (p.Lys7224Gln)
c.48865A>C (p.Lys16289Gln)
c.43942A>C (p.Lys14648Gln)
n.1397T>G
c.47962A>C (p.Lys15988Gln)
c.21856A>C (p.Lys7286Gln)
c.21715A>C (p.Lys7239Gln)
c.47758A>C (p.Lys15920Gln)
c.43156A>C (p.Lys14386Gln)
c.43153A>C (p.Lys14385Gln)
c.40195A>C (p.Lys13399Gln)
c.21811A>C (p.Lys7271Gln)
c.43306A>C (p.Lys14436Gln)
c.43303A>C (p.Lys14435Gln)
c.42736A>C (p.Lys14246Gln)
c.40078A>C (p.Lys13360Gln)
c.39997A>C (p.Lys13333Gln)
c.21760A>C (p.Lys7254Gln)
c.11614A>C (p.Lys3872Gln)
2g.178614649T=CA1310549453TTN,TTN-AS1c.41161A= (p.Lys13721=)
c.22246A= (p.Lys7416=)
c.22045A= (p.Lys7349=)
c.21670A= (p.Lys7224=)
c.48865A= (p.Lys16289=)
c.43942A= (p.Lys14648=)
n.1397T=
c.47962A= (p.Lys15988=)
c.21856A= (p.Lys7286=)
c.21715A= (p.Lys7239=)
c.47758A= (p.Lys15920=)
c.43156A= (p.Lys14386=)
c.43153A= (p.Lys14385=)
c.40195A= (p.Lys13399=)
c.21811A= (p.Lys7271=)
c.43306A= (p.Lys14436=)
c.43303A= (p.Lys14435=)
c.42736A= (p.Lys14246=)
c.40078A= (p.Lys13360=)
c.39997A= (p.Lys13333=)
c.21760A= (p.Lys7254=)
c.11614A= (p.Lys3872=)
2g.178614650A>CCA430273878TTN,TTN-AS1c.41160T>G (p.Pro13720=)
c.22245T>G (p.Pro7415=)
c.22044T>G (p.Pro7348=)
c.21669T>G (p.Pro7223=)
c.48864T>G (p.Pro16288=)
c.43941T>G (p.Pro14647=)
n.1398A>C
c.47961T>G (p.Pro15987=)
c.21855T>G (p.Pro7285=)
c.21714T>G (p.Pro7238=)
c.47757T>G (p.Pro15919=)
c.43155T>G (p.Pro14385=)
c.43152T>G (p.Pro14384=)
c.40194T>G (p.Pro13398=)
c.21810T>G (p.Pro7270=)
c.43305T>G (p.Pro14435=)
c.43302T>G (p.Pro14434=)
c.42735T>G (p.Pro14245=)
c.40077T>G (p.Pro13359=)
c.39996T>G (p.Pro13332=)
c.21759T>G (p.Pro7253=)
c.11613T>G (p.Pro3871=)
2g.178614650A>GCA430273873TTN,TTN-AS1c.41160T>C (p.Pro13720=)
c.22245T>C (p.Pro7415=)
c.22044T>C (p.Pro7348=)
c.21669T>C (p.Pro7223=)
c.48864T>C (p.Pro16288=)
c.43941T>C (p.Pro14647=)
n.1398A>G
c.47961T>C (p.Pro15987=)
c.21855T>C (p.Pro7285=)
c.21714T>C (p.Pro7238=)
c.47757T>C (p.Pro15919=)
c.43155T>C (p.Pro14385=)
c.43152T>C (p.Pro14384=)
c.40194T>C (p.Pro13398=)
c.21810T>C (p.Pro7270=)
c.43305T>C (p.Pro14435=)
c.43302T>C (p.Pro14434=)
c.42735T>C (p.Pro14245=)
c.40077T>C (p.Pro13359=)
c.39996T>C (p.Pro13332=)
c.21759T>C (p.Pro7253=)
c.11613T>C (p.Pro3871=)
2g.178614650A>TCA430273877TTN,TTN-AS1c.41160T>A (p.Pro13720=)
c.22245T>A (p.Pro7415=)
c.22044T>A (p.Pro7348=)
c.21669T>A (p.Pro7223=)
c.48864T>A (p.Pro16288=)
c.43941T>A (p.Pro14647=)
n.1398A>T
c.47961T>A (p.Pro15987=)
c.21855T>A (p.Pro7285=)
c.21714T>A (p.Pro7238=)
c.47757T>A (p.Pro15919=)
c.43155T>A (p.Pro14385=)
c.43152T>A (p.Pro14384=)
c.40194T>A (p.Pro13398=)
c.21810T>A (p.Pro7270=)
c.43305T>A (p.Pro14435=)
c.43302T>A (p.Pro14434=)
c.42735T>A (p.Pro14245=)
c.40077T>A (p.Pro13359=)
c.39996T>A (p.Pro13332=)
c.21759T>A (p.Pro7253=)
c.11613T>A (p.Pro3871=)
 ClinVar dbSNP
2g.178614650_178614651delinsAGCA1310549454TTN,TTN-AS1c.41159_41160delinsCT (p.Pro13720=)
c.22244_22245delinsCT (p.Pro7415=)
c.22043_22044delinsCT (p.Pro7348=)
c.21668_21669delinsCT (p.Pro7223=)
c.48863_48864delinsCT (p.Pro16288=)
c.43940_43941delinsCT (p.Pro14647=)
n.1398_1399delinsAG
c.47960_47961delinsCT (p.Pro15987=)
c.21854_21855delinsCT (p.Pro7285=)
c.21713_21714delinsCT (p.Pro7238=)
c.47756_47757delinsCT (p.Pro15919=)
c.43154_43155delinsCT (p.Pro14385=)
c.43151_43152delinsCT (p.Pro14384=)
c.40193_40194delinsCT (p.Pro13398=)
c.21809_21810delinsCT (p.Pro7270=)
c.43304_43305delinsCT (p.Pro14435=)
c.43301_43302delinsCT (p.Pro14434=)
c.42734_42735delinsCT (p.Pro14245=)
c.40076_40077delinsCT (p.Pro13359=)
c.39995_39996delinsCT (p.Pro13332=)
c.21758_21759delinsCT (p.Pro7253=)
c.11612_11613delinsCT (p.Pro3871=)
2g.178614651G>ACA349607676TTN,TTN-AS1c.41159C>T (p.Pro13720Leu)
c.22244C>T (p.Pro7415Leu)
c.22043C>T (p.Pro7348Leu)
c.21668C>T (p.Pro7223Leu)
c.48863C>T (p.Pro16288Leu)
c.43940C>T (p.Pro14647Leu)
n.1399G>A
c.47960C>T (p.Pro15987Leu)
c.21854C>T (p.Pro7285Leu)
c.21713C>T (p.Pro7238Leu)
c.47756C>T (p.Pro15919Leu)
c.43154C>T (p.Pro14385Leu)
c.43151C>T (p.Pro14384Leu)
c.40193C>T (p.Pro13398Leu)
c.21809C>T (p.Pro7270Leu)
c.43304C>T (p.Pro14435Leu)
c.43301C>T (p.Pro14434Leu)
c.42734C>T (p.Pro14245Leu)
c.40076C>T (p.Pro13359Leu)
c.39995C>T (p.Pro13332Leu)
c.21758C>T (p.Pro7253Leu)
c.11612C>T (p.Pro3871Leu)
 gnomAD v4
2g.178614651G>CCA1994731TTN,TTN-AS1c.41159C>G (p.Pro13720Arg)
c.22244C>G (p.Pro7415Arg)
c.22043C>G (p.Pro7348Arg)
c.21668C>G (p.Pro7223Arg)
c.48863C>G (p.Pro16288Arg)
c.43940C>G (p.Pro14647Arg)
n.1399G>C
c.47960C>G (p.Pro15987Arg)
c.21854C>G (p.Pro7285Arg)
c.21713C>G (p.Pro7238Arg)
c.47756C>G (p.Pro15919Arg)
c.43154C>G (p.Pro14385Arg)
c.43151C>G (p.Pro14384Arg)
c.40193C>G (p.Pro13398Arg)
c.21809C>G (p.Pro7270Arg)
c.43304C>G (p.Pro14435Arg)
c.43301C>G (p.Pro14434Arg)
c.42734C>G (p.Pro14245Arg)
c.40076C>G (p.Pro13359Arg)
c.39995C>G (p.Pro13332Arg)
c.21758C>G (p.Pro7253Arg)
c.11612C>G (p.Pro3871Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614651G=CA1310549455TTN,TTN-AS1c.41159C= (p.Pro13720=)
c.22244C= (p.Pro7415=)
c.22043C= (p.Pro7348=)
c.21668C= (p.Pro7223=)
c.48863C= (p.Pro16288=)
c.43940C= (p.Pro14647=)
n.1399G=
c.47960C= (p.Pro15987=)
c.21854C= (p.Pro7285=)
c.21713C= (p.Pro7238=)
c.47756C= (p.Pro15919=)
c.43154C= (p.Pro14385=)
c.43151C= (p.Pro14384=)
c.40193C= (p.Pro13398=)
c.21809C= (p.Pro7270=)
c.43304C= (p.Pro14435=)
c.43301C= (p.Pro14434=)
c.42734C= (p.Pro14245=)
c.40076C= (p.Pro13359=)
c.39995C= (p.Pro13332=)
c.21758C= (p.Pro7253=)
c.11612C= (p.Pro3871=)
2g.178614651G>TCA349607680TTN,TTN-AS1c.41159C>A (p.Pro13720His)
c.22244C>A (p.Pro7415His)
c.22043C>A (p.Pro7348His)
c.21668C>A (p.Pro7223His)
c.48863C>A (p.Pro16288His)
c.43940C>A (p.Pro14647His)
n.1399G>T
c.47960C>A (p.Pro15987His)
c.21854C>A (p.Pro7285His)
c.21713C>A (p.Pro7238His)
c.47756C>A (p.Pro15919His)
c.43154C>A (p.Pro14385His)
c.43151C>A (p.Pro14384His)
c.40193C>A (p.Pro13398His)
c.21809C>A (p.Pro7270His)
c.43304C>A (p.Pro14435His)
c.43301C>A (p.Pro14434His)
c.42734C>A (p.Pro14245His)
c.40076C>A (p.Pro13359His)
c.39995C>A (p.Pro13332His)
c.21758C>A (p.Pro7253His)
c.11612C>A (p.Pro3871His)
 dbSNP
2g.178614652delCA309407TTN,TTN-AS1c.41159del (p.Pro13720LeufsTer3)
c.22244del (p.Pro7415LeufsTer3)
c.22043del (p.Pro7348LeufsTer3)
c.21668del (p.Pro7223LeufsTer3)
c.48863del (p.Pro16288LeufsTer3)
c.43940del (p.Pro14647LeufsTer3)
n.1400del
c.47960del (p.Pro15987LeufsTer3)
c.21854del (p.Pro7285LeufsTer3)
c.21713del (p.Pro7238LeufsTer3)
c.47756del (p.Pro15919LeufsTer3)
c.43154del (p.Pro14385LeufsTer3)
c.43151del (p.Pro14384LeufsTer3)
c.40193del (p.Pro13398LeufsTer3)
c.21809del (p.Pro7270LeufsTer3)
c.43304del (p.Pro14435LeufsTer3)
c.43301del (p.Pro14434LeufsTer3)
c.42734del (p.Pro14245LeufsTer3)
c.40076del (p.Pro13359LeufsTer3)
c.39995del (p.Pro13332LeufsTer3)
c.21758del (p.Pro7253LeufsTer3)
c.11612del (p.Pro3871LeufsTer3)
 ClinVar dbSNP gnomAD v4
2g.178614652G>ACA60987700TTN,TTN-AS1c.41158C>T (p.Pro13720Ser)
c.22243C>T (p.Pro7415Ser)
c.22042C>T (p.Pro7348Ser)
c.21667C>T (p.Pro7223Ser)
c.48862C>T (p.Pro16288Ser)
c.43939C>T (p.Pro14647Ser)
n.1400G>A
c.47959C>T (p.Pro15987Ser)
c.21853C>T (p.Pro7285Ser)
c.21712C>T (p.Pro7238Ser)
c.47755C>T (p.Pro15919Ser)
c.43153C>T (p.Pro14385Ser)
c.43150C>T (p.Pro14384Ser)
c.40192C>T (p.Pro13398Ser)
c.21808C>T (p.Pro7270Ser)
c.43303C>T (p.Pro14435Ser)
c.43300C>T (p.Pro14434Ser)
c.42733C>T (p.Pro14245Ser)
c.40075C>T (p.Pro13359Ser)
c.39994C>T (p.Pro13332Ser)
c.21757C>T (p.Pro7253Ser)
c.11611C>T (p.Pro3871Ser)
 ClinVar dbSNP gnomAD v4
2g.178614652G>CCA349607683TTN,TTN-AS1c.41158C>G (p.Pro13720Ala)
c.22243C>G (p.Pro7415Ala)
c.22042C>G (p.Pro7348Ala)
c.21667C>G (p.Pro7223Ala)
c.48862C>G (p.Pro16288Ala)
c.43939C>G (p.Pro14647Ala)
n.1400G>C
c.47959C>G (p.Pro15987Ala)
c.21853C>G (p.Pro7285Ala)
c.21712C>G (p.Pro7238Ala)
c.47755C>G (p.Pro15919Ala)
c.43153C>G (p.Pro14385Ala)
c.43150C>G (p.Pro14384Ala)
c.40192C>G (p.Pro13398Ala)
c.21808C>G (p.Pro7270Ala)
c.43303C>G (p.Pro14435Ala)
c.43300C>G (p.Pro14434Ala)
c.42733C>G (p.Pro14245Ala)
c.40075C>G (p.Pro13359Ala)
c.39994C>G (p.Pro13332Ala)
c.21757C>G (p.Pro7253Ala)
c.11611C>G (p.Pro3871Ala)
2g.178614652G=CA1310549456TTN,TTN-AS1c.41158C= (p.Pro13720=)
c.22243C= (p.Pro7415=)
c.22042C= (p.Pro7348=)
c.21667C= (p.Pro7223=)
c.48862C= (p.Pro16288=)
c.43939C= (p.Pro14647=)
n.1400G=
c.47959C= (p.Pro15987=)
c.21853C= (p.Pro7285=)
c.21712C= (p.Pro7238=)
c.47755C= (p.Pro15919=)
c.43153C= (p.Pro14385=)
c.43150C= (p.Pro14384=)
c.40192C= (p.Pro13398=)
c.21808C= (p.Pro7270=)
c.43303C= (p.Pro14435=)
c.43300C= (p.Pro14434=)
c.42733C= (p.Pro14245=)
c.40075C= (p.Pro13359=)
c.39994C= (p.Pro13332=)
c.21757C= (p.Pro7253=)
c.11611C= (p.Pro3871=)
2g.178614652G>TCA349607685TTN,TTN-AS1c.41158C>A (p.Pro13720Thr)
c.22243C>A (p.Pro7415Thr)
c.22042C>A (p.Pro7348Thr)
c.21667C>A (p.Pro7223Thr)
c.48862C>A (p.Pro16288Thr)
c.43939C>A (p.Pro14647Thr)
n.1400G>T
c.47959C>A (p.Pro15987Thr)
c.21853C>A (p.Pro7285Thr)
c.21712C>A (p.Pro7238Thr)
c.47755C>A (p.Pro15919Thr)
c.43153C>A (p.Pro14385Thr)
c.43150C>A (p.Pro14384Thr)
c.40192C>A (p.Pro13398Thr)
c.21808C>A (p.Pro7270Thr)
c.43303C>A (p.Pro14435Thr)
c.43300C>A (p.Pro14434Thr)
c.42733C>A (p.Pro14245Thr)
c.40075C>A (p.Pro13359Thr)
c.39994C>A (p.Pro13332Thr)
c.21757C>A (p.Pro7253Thr)
c.11611C>A (p.Pro3871Thr)
2g.178614653T>ACA349607688TTN,TTN-AS1c.41157A>T (p.Glu13719Asp)
c.22242A>T (p.Glu7414Asp)
c.22041A>T (p.Glu7347Asp)
c.21666A>T (p.Glu7222Asp)
c.48861A>T (p.Glu16287Asp)
c.43938A>T (p.Glu14646Asp)
n.1401T>A
c.47958A>T (p.Glu15986Asp)
c.21852A>T (p.Glu7284Asp)
c.21711A>T (p.Glu7237Asp)
c.47754A>T (p.Glu15918Asp)
c.43152A>T (p.Glu14384Asp)
c.43149A>T (p.Glu14383Asp)
c.40191A>T (p.Glu13397Asp)
c.21807A>T (p.Glu7269Asp)
c.43302A>T (p.Glu14434Asp)
c.43299A>T (p.Glu14433Asp)
c.42732A>T (p.Glu14244Asp)
c.40074A>T (p.Glu13358Asp)
c.39993A>T (p.Glu13331Asp)
c.21756A>T (p.Glu7252Asp)
c.11610A>T (p.Glu3870Asp)
2g.178614653T>CCA430273895TTN,TTN-AS1c.41157A>G (p.Glu13719=)
c.22242A>G (p.Glu7414=)
c.22041A>G (p.Glu7347=)
c.21666A>G (p.Glu7222=)
c.48861A>G (p.Glu16287=)
c.43938A>G (p.Glu14646=)
n.1401T>C
c.47958A>G (p.Glu15986=)
c.21852A>G (p.Glu7284=)
c.21711A>G (p.Glu7237=)
c.47754A>G (p.Glu15918=)
c.43152A>G (p.Glu14384=)
c.43149A>G (p.Glu14383=)
c.40191A>G (p.Glu13397=)
c.21807A>G (p.Glu7269=)
c.43302A>G (p.Glu14434=)
c.43299A>G (p.Glu14433=)
c.42732A>G (p.Glu14244=)
c.40074A>G (p.Glu13358=)
c.39993A>G (p.Glu13331=)
c.21756A>G (p.Glu7252=)
c.11610A>G (p.Glu3870=)
2g.178614653T>GCA349607689TTN,TTN-AS1c.41157A>C (p.Glu13719Asp)
c.22242A>C (p.Glu7414Asp)
c.22041A>C (p.Glu7347Asp)
c.21666A>C (p.Glu7222Asp)
c.48861A>C (p.Glu16287Asp)
c.43938A>C (p.Glu14646Asp)
n.1401T>G
c.47958A>C (p.Glu15986Asp)
c.21852A>C (p.Glu7284Asp)
c.21711A>C (p.Glu7237Asp)
c.47754A>C (p.Glu15918Asp)
c.43152A>C (p.Glu14384Asp)
c.43149A>C (p.Glu14383Asp)
c.40191A>C (p.Glu13397Asp)
c.21807A>C (p.Glu7269Asp)
c.43302A>C (p.Glu14434Asp)
c.43299A>C (p.Glu14433Asp)
c.42732A>C (p.Glu14244Asp)
c.40074A>C (p.Glu13358Asp)
c.39993A>C (p.Glu13331Asp)
c.21756A>C (p.Glu7252Asp)
c.11610A>C (p.Glu3870Asp)
2g.178614654T>ACA349607691TTN,TTN-AS1c.41156A>T (p.Glu13719Val)
c.22241A>T (p.Glu7414Val)
c.22040A>T (p.Glu7347Val)
c.21665A>T (p.Glu7222Val)
c.48860A>T (p.Glu16287Val)
c.43937A>T (p.Glu14646Val)
n.1402T>A
c.47957A>T (p.Glu15986Val)
c.21851A>T (p.Glu7284Val)
c.21710A>T (p.Glu7237Val)
c.47753A>T (p.Glu15918Val)
c.43151A>T (p.Glu14384Val)
c.43148A>T (p.Glu14383Val)
c.40190A>T (p.Glu13397Val)
c.21806A>T (p.Glu7269Val)
c.43301A>T (p.Glu14434Val)
c.43298A>T (p.Glu14433Val)
c.42731A>T (p.Glu14244Val)
c.40073A>T (p.Glu13358Val)
c.39992A>T (p.Glu13331Val)
c.21755A>T (p.Glu7252Val)
c.11609A>T (p.Glu3870Val)
2g.178614654T>CCA349607692TTN,TTN-AS1c.41156A>G (p.Glu13719Gly)
c.22241A>G (p.Glu7414Gly)
c.22040A>G (p.Glu7347Gly)
c.21665A>G (p.Glu7222Gly)
c.48860A>G (p.Glu16287Gly)
c.43937A>G (p.Glu14646Gly)
n.1402T>C
c.47957A>G (p.Glu15986Gly)
c.21851A>G (p.Glu7284Gly)
c.21710A>G (p.Glu7237Gly)
c.47753A>G (p.Glu15918Gly)
c.43151A>G (p.Glu14384Gly)
c.43148A>G (p.Glu14383Gly)
c.40190A>G (p.Glu13397Gly)
c.21806A>G (p.Glu7269Gly)
c.43301A>G (p.Glu14434Gly)
c.43298A>G (p.Glu14433Gly)
c.42731A>G (p.Glu14244Gly)
c.40073A>G (p.Glu13358Gly)
c.39992A>G (p.Glu13331Gly)
c.21755A>G (p.Glu7252Gly)
c.11609A>G (p.Glu3870Gly)
2g.178614654T>GCA349607693TTN,TTN-AS1c.41156A>C (p.Glu13719Ala)
c.22241A>C (p.Glu7414Ala)
c.22040A>C (p.Glu7347Ala)
c.21665A>C (p.Glu7222Ala)
c.48860A>C (p.Glu16287Ala)
c.43937A>C (p.Glu14646Ala)
n.1402T>G
c.47957A>C (p.Glu15986Ala)
c.21851A>C (p.Glu7284Ala)
c.21710A>C (p.Glu7237Ala)
c.47753A>C (p.Glu15918Ala)
c.43151A>C (p.Glu14384Ala)
c.43148A>C (p.Glu14383Ala)
c.40190A>C (p.Glu13397Ala)
c.21806A>C (p.Glu7269Ala)
c.43301A>C (p.Glu14434Ala)
c.43298A>C (p.Glu14433Ala)
c.42731A>C (p.Glu14244Ala)
c.40073A>C (p.Glu13358Ala)
c.39992A>C (p.Glu13331Ala)
c.21755A>C (p.Glu7252Ala)
c.11609A>C (p.Glu3870Ala)
2g.178614655C>ACA349607697TTN,TTN-AS1c.41155G>T (p.Glu13719Ter)
c.22240G>T (p.Glu7414Ter)
c.22039G>T (p.Glu7347Ter)
c.21664G>T (p.Glu7222Ter)
c.48859G>T (p.Glu16287Ter)
c.43936G>T (p.Glu14646Ter)
n.1403C>A
c.47956G>T (p.Glu15986Ter)
c.21850G>T (p.Glu7284Ter)
c.21709G>T (p.Glu7237Ter)
c.47752G>T (p.Glu15918Ter)
c.43150G>T (p.Glu14384Ter)
c.43147G>T (p.Glu14383Ter)
c.40189G>T (p.Glu13397Ter)
c.21805G>T (p.Glu7269Ter)
c.43300G>T (p.Glu14434Ter)
c.43297G>T (p.Glu14433Ter)
c.42730G>T (p.Glu14244Ter)
c.40072G>T (p.Glu13358Ter)
c.39991G>T (p.Glu13331Ter)
c.21754G>T (p.Glu7252Ter)
c.11608G>T (p.Glu3870Ter)
2g.178614655C>GCA349607696TTN,TTN-AS1c.41155G>C (p.Glu13719Gln)
c.22240G>C (p.Glu7414Gln)
c.22039G>C (p.Glu7347Gln)
c.21664G>C (p.Glu7222Gln)
c.48859G>C (p.Glu16287Gln)
c.43936G>C (p.Glu14646Gln)
n.1403C>G
c.47956G>C (p.Glu15986Gln)
c.21850G>C (p.Glu7284Gln)
c.21709G>C (p.Glu7237Gln)
c.47752G>C (p.Glu15918Gln)
c.43150G>C (p.Glu14384Gln)
c.43147G>C (p.Glu14383Gln)
c.40189G>C (p.Glu13397Gln)
c.21805G>C (p.Glu7269Gln)
c.43300G>C (p.Glu14434Gln)
c.43297G>C (p.Glu14433Gln)
c.42730G>C (p.Glu14244Gln)
c.40072G>C (p.Glu13358Gln)
c.39991G>C (p.Glu13331Gln)
c.21754G>C (p.Glu7252Gln)
c.11608G>C (p.Glu3870Gln)
2g.178614655C>TCA349607695TTN,TTN-AS1c.41155G>A (p.Glu13719Lys)
c.22240G>A (p.Glu7414Lys)
c.22039G>A (p.Glu7347Lys)
c.21664G>A (p.Glu7222Lys)
c.48859G>A (p.Glu16287Lys)
c.43936G>A (p.Glu14646Lys)
n.1403C>T
c.47956G>A (p.Glu15986Lys)
c.21850G>A (p.Glu7284Lys)
c.21709G>A (p.Glu7237Lys)
c.47752G>A (p.Glu15918Lys)
c.43150G>A (p.Glu14384Lys)
c.43147G>A (p.Glu14383Lys)
c.40189G>A (p.Glu13397Lys)
c.21805G>A (p.Glu7269Lys)
c.43300G>A (p.Glu14434Lys)
c.43297G>A (p.Glu14433Lys)
c.42730G>A (p.Glu14244Lys)
c.40072G>A (p.Glu13358Lys)
c.39991G>A (p.Glu13331Lys)
c.21754G>A (p.Glu7252Lys)
c.11608G>A (p.Glu3870Lys)
 gnomAD v4
2g.178614656A=CA1310549457TTN,TTN-AS1c.41154T= (p.Pro13718=)
c.22239T= (p.Pro7413=)
c.22038T= (p.Pro7346=)
c.21663T= (p.Pro7221=)
c.48858T= (p.Pro16286=)
c.43935T= (p.Pro14645=)
n.1404A=
c.47955T= (p.Pro15985=)
c.21849T= (p.Pro7283=)
c.21708T= (p.Pro7236=)
c.47751T= (p.Pro15917=)
c.43149T= (p.Pro14383=)
c.43146T= (p.Pro14382=)
c.40188T= (p.Pro13396=)
c.21804T= (p.Pro7268=)
c.43299T= (p.Pro14433=)
c.43296T= (p.Pro14432=)
c.42729T= (p.Pro14243=)
c.40071T= (p.Pro13357=)
c.39990T= (p.Pro13330=)
c.21753T= (p.Pro7251=)
c.11607T= (p.Pro3869=)
2g.178614656A>CCA430273910TTN,TTN-AS1c.41154T>G (p.Pro13718=)
c.22239T>G (p.Pro7413=)
c.22038T>G (p.Pro7346=)
c.21663T>G (p.Pro7221=)
c.48858T>G (p.Pro16286=)
c.43935T>G (p.Pro14645=)
n.1404A>C
c.47955T>G (p.Pro15985=)
c.21849T>G (p.Pro7283=)
c.21708T>G (p.Pro7236=)
c.47751T>G (p.Pro15917=)
c.43149T>G (p.Pro14383=)
c.43146T>G (p.Pro14382=)
c.40188T>G (p.Pro13396=)
c.21804T>G (p.Pro7268=)
c.43299T>G (p.Pro14433=)
c.43296T>G (p.Pro14432=)
c.42729T>G (p.Pro14243=)
c.40071T>G (p.Pro13357=)
c.39990T>G (p.Pro13330=)
c.21753T>G (p.Pro7251=)
c.11607T>G (p.Pro3869=)
2g.178614656A>GCA1994732TTN,TTN-AS1c.41154T>C (p.Pro13718=)
c.22239T>C (p.Pro7413=)
c.22038T>C (p.Pro7346=)
c.21663T>C (p.Pro7221=)
c.48858T>C (p.Pro16286=)
c.43935T>C (p.Pro14645=)
n.1404A>G
c.47955T>C (p.Pro15985=)
c.21849T>C (p.Pro7283=)
c.21708T>C (p.Pro7236=)
c.47751T>C (p.Pro15917=)
c.43149T>C (p.Pro14383=)
c.43146T>C (p.Pro14382=)
c.40188T>C (p.Pro13396=)
c.21804T>C (p.Pro7268=)
c.43299T>C (p.Pro14433=)
c.43296T>C (p.Pro14432=)
c.42729T>C (p.Pro14243=)
c.40071T>C (p.Pro13357=)
c.39990T>C (p.Pro13330=)
c.21753T>C (p.Pro7251=)
c.11607T>C (p.Pro3869=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614656A>TCA430273913TTN,TTN-AS1c.41154T>A (p.Pro13718=)
c.22239T>A (p.Pro7413=)
c.22038T>A (p.Pro7346=)
c.21663T>A (p.Pro7221=)
c.48858T>A (p.Pro16286=)
c.43935T>A (p.Pro14645=)
n.1404A>T
c.47955T>A (p.Pro15985=)
c.21849T>A (p.Pro7283=)
c.21708T>A (p.Pro7236=)
c.47751T>A (p.Pro15917=)
c.43149T>A (p.Pro14383=)
c.43146T>A (p.Pro14382=)
c.40188T>A (p.Pro13396=)
c.21804T>A (p.Pro7268=)
c.43299T>A (p.Pro14433=)
c.43296T>A (p.Pro14432=)
c.42729T>A (p.Pro14243=)
c.40071T>A (p.Pro13357=)
c.39990T>A (p.Pro13330=)
c.21753T>A (p.Pro7251=)
c.11607T>A (p.Pro3869=)
2g.178614657G>ACA349607699TTN,TTN-AS1c.41153C>T (p.Pro13718Leu)
c.22238C>T (p.Pro7413Leu)
c.22037C>T (p.Pro7346Leu)
c.21662C>T (p.Pro7221Leu)
c.48857C>T (p.Pro16286Leu)
c.43934C>T (p.Pro14645Leu)
n.1405G>A
c.47954C>T (p.Pro15985Leu)
c.21848C>T (p.Pro7283Leu)
c.21707C>T (p.Pro7236Leu)
c.47750C>T (p.Pro15917Leu)
c.43148C>T (p.Pro14383Leu)
c.43145C>T (p.Pro14382Leu)
c.40187C>T (p.Pro13396Leu)
c.21803C>T (p.Pro7268Leu)
c.43298C>T (p.Pro14433Leu)
c.43295C>T (p.Pro14432Leu)
c.42728C>T (p.Pro14243Leu)
c.40070C>T (p.Pro13357Leu)
c.39989C>T (p.Pro13330Leu)
c.21752C>T (p.Pro7251Leu)
c.11606C>T (p.Pro3869Leu)
2g.178614657G>CCA349607701TTN,TTN-AS1c.41153C>G (p.Pro13718Arg)
c.22238C>G (p.Pro7413Arg)
c.22037C>G (p.Pro7346Arg)
c.21662C>G (p.Pro7221Arg)
c.48857C>G (p.Pro16286Arg)
c.43934C>G (p.Pro14645Arg)
n.1405G>C
c.47954C>G (p.Pro15985Arg)
c.21848C>G (p.Pro7283Arg)
c.21707C>G (p.Pro7236Arg)
c.47750C>G (p.Pro15917Arg)
c.43148C>G (p.Pro14383Arg)
c.43145C>G (p.Pro14382Arg)
c.40187C>G (p.Pro13396Arg)
c.21803C>G (p.Pro7268Arg)
c.43298C>G (p.Pro14433Arg)
c.43295C>G (p.Pro14432Arg)
c.42728C>G (p.Pro14243Arg)
c.40070C>G (p.Pro13357Arg)
c.39989C>G (p.Pro13330Arg)
c.21752C>G (p.Pro7251Arg)
c.11606C>G (p.Pro3869Arg)
2g.178614657G>TCA349607703TTN,TTN-AS1c.41153C>A (p.Pro13718His)
c.22238C>A (p.Pro7413His)
c.22037C>A (p.Pro7346His)
c.21662C>A (p.Pro7221His)
c.48857C>A (p.Pro16286His)
c.43934C>A (p.Pro14645His)
n.1405G>T
c.47954C>A (p.Pro15985His)
c.21848C>A (p.Pro7283His)
c.21707C>A (p.Pro7236His)
c.47750C>A (p.Pro15917His)
c.43148C>A (p.Pro14383His)
c.43145C>A (p.Pro14382His)
c.40187C>A (p.Pro13396His)
c.21803C>A (p.Pro7268His)
c.43298C>A (p.Pro14433His)
c.43295C>A (p.Pro14432His)
c.42728C>A (p.Pro14243His)
c.40070C>A (p.Pro13357His)
c.39989C>A (p.Pro13330His)
c.21752C>A (p.Pro7251His)
c.11606C>A (p.Pro3869His)
2g.178614658G>ACA349607706TTN,TTN-AS1c.41152C>T (p.Pro13718Ser)
c.22237C>T (p.Pro7413Ser)
c.22036C>T (p.Pro7346Ser)
c.21661C>T (p.Pro7221Ser)
c.48856C>T (p.Pro16286Ser)
c.43933C>T (p.Pro14645Ser)
n.1406G>A
c.47953C>T (p.Pro15985Ser)
c.21847C>T (p.Pro7283Ser)
c.21706C>T (p.Pro7236Ser)
c.47749C>T (p.Pro15917Ser)
c.43147C>T (p.Pro14383Ser)
c.43144C>T (p.Pro14382Ser)
c.40186C>T (p.Pro13396Ser)
c.21802C>T (p.Pro7268Ser)
c.43297C>T (p.Pro14433Ser)
c.43294C>T (p.Pro14432Ser)
c.42727C>T (p.Pro14243Ser)
c.40069C>T (p.Pro13357Ser)
c.39988C>T (p.Pro13330Ser)
c.21751C>T (p.Pro7251Ser)
c.11605C>T (p.Pro3869Ser)

Number of alleles fetched