Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178574791C>ACA349657831TTN,TTN-AS1c.63637G>T (p.Val21213Phe)
c.44722G>T (p.Val14908Phe)
c.44521G>T (p.Val14841Phe)
c.44146G>T (p.Val14716Phe)
c.71341G>T (p.Val23781Phe)
c.66418G>T (p.Val22140Phe)
n.596+3342C>A
n.2044-7781C>A
c.70438G>T (p.Val23480Phe)
c.44332G>T (p.Val14778Phe)
c.44191G>T (p.Val14731Phe)
c.70234G>T (p.Val23412Phe)
c.65632G>T (p.Val21878Phe)
c.65629G>T (p.Val21877Phe)
c.62671G>T (p.Val20891Phe)
c.44287G>T (p.Val14763Phe)
c.65782G>T (p.Val21928Phe)
c.65779G>T (p.Val21927Phe)
c.65212G>T (p.Val21738Phe)
c.62554G>T (p.Val20852Phe)
c.62473G>T (p.Val20825Phe)
c.44236G>T (p.Val14746Phe)
c.34090G>T (p.Val11364Phe)
2g.178574791C=CA1310532909TTN,TTN-AS1c.63637G= (p.Val21213=)
c.44722G= (p.Val14908=)
c.44521G= (p.Val14841=)
c.44146G= (p.Val14716=)
c.71341G= (p.Val23781=)
c.66418G= (p.Val22140=)
n.596+3342C=
n.2044-7781C=
c.70438G= (p.Val23480=)
c.44332G= (p.Val14778=)
c.44191G= (p.Val14731=)
c.70234G= (p.Val23412=)
c.65632G= (p.Val21878=)
c.65629G= (p.Val21877=)
c.62671G= (p.Val20891=)
c.44287G= (p.Val14763=)
c.65782G= (p.Val21928=)
c.65779G= (p.Val21927=)
c.65212G= (p.Val21738=)
c.62554G= (p.Val20852=)
c.62473G= (p.Val20825=)
c.44236G= (p.Val14746=)
c.34090G= (p.Val11364=)
2g.178574791C>GCA349657832TTN,TTN-AS1c.63637G>C (p.Val21213Leu)
c.44722G>C (p.Val14908Leu)
c.44521G>C (p.Val14841Leu)
c.44146G>C (p.Val14716Leu)
c.71341G>C (p.Val23781Leu)
c.66418G>C (p.Val22140Leu)
n.596+3342C>G
n.2044-7781C>G
c.70438G>C (p.Val23480Leu)
c.44332G>C (p.Val14778Leu)
c.44191G>C (p.Val14731Leu)
c.70234G>C (p.Val23412Leu)
c.65632G>C (p.Val21878Leu)
c.65629G>C (p.Val21877Leu)
c.62671G>C (p.Val20891Leu)
c.44287G>C (p.Val14763Leu)
c.65782G>C (p.Val21928Leu)
c.65779G>C (p.Val21927Leu)
c.65212G>C (p.Val21738Leu)
c.62554G>C (p.Val20852Leu)
c.62473G>C (p.Val20825Leu)
c.44236G>C (p.Val14746Leu)
c.34090G>C (p.Val11364Leu)
2g.178574791C>TCA1990641TTN,TTN-AS1c.63637G>A (p.Val21213Ile)
c.44722G>A (p.Val14908Ile)
c.44521G>A (p.Val14841Ile)
c.44146G>A (p.Val14716Ile)
c.71341G>A (p.Val23781Ile)
c.66418G>A (p.Val22140Ile)
n.596+3342C>T
n.2044-7781C>T
c.70438G>A (p.Val23480Ile)
c.44332G>A (p.Val14778Ile)
c.44191G>A (p.Val14731Ile)
c.70234G>A (p.Val23412Ile)
c.65632G>A (p.Val21878Ile)
c.65629G>A (p.Val21877Ile)
c.62671G>A (p.Val20891Ile)
c.44287G>A (p.Val14763Ile)
c.65782G>A (p.Val21928Ile)
c.65779G>A (p.Val21927Ile)
c.65212G>A (p.Val21738Ile)
c.62554G>A (p.Val20852Ile)
c.62473G>A (p.Val20825Ile)
c.44236G>A (p.Val14746Ile)
c.34090G>A (p.Val11364Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178574792G>ACA1990642TTN,TTN-AS1c.63636C>T (p.Thr21212=)
c.44721C>T (p.Thr14907=)
c.44520C>T (p.Thr14840=)
c.44145C>T (p.Thr14715=)
c.71340C>T (p.Thr23780=)
c.66417C>T (p.Thr22139=)
n.596+3343G>A
n.2044-7780G>A
c.70437C>T (p.Thr23479=)
c.44331C>T (p.Thr14777=)
c.44190C>T (p.Thr14730=)
c.70233C>T (p.Thr23411=)
c.65631C>T (p.Thr21877=)
c.65628C>T (p.Thr21876=)
c.62670C>T (p.Thr20890=)
c.44286C>T (p.Thr14762=)
c.65781C>T (p.Thr21927=)
c.65778C>T (p.Thr21926=)
c.65211C>T (p.Thr21737=)
c.62553C>T (p.Thr20851=)
c.62472C>T (p.Thr20824=)
c.44235C>T (p.Thr14745=)
c.34089C>T (p.Thr11363=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178574792G>CCA430257589TTN,TTN-AS1c.63636C>G (p.Thr21212=)
c.44721C>G (p.Thr14907=)
c.44520C>G (p.Thr14840=)
c.44145C>G (p.Thr14715=)
c.71340C>G (p.Thr23780=)
c.66417C>G (p.Thr22139=)
n.596+3343G>C
n.2044-7780G>C
c.70437C>G (p.Thr23479=)
c.44331C>G (p.Thr14777=)
c.44190C>G (p.Thr14730=)
c.70233C>G (p.Thr23411=)
c.65631C>G (p.Thr21877=)
c.65628C>G (p.Thr21876=)
c.62670C>G (p.Thr20890=)
c.44286C>G (p.Thr14762=)
c.65781C>G (p.Thr21927=)
c.65778C>G (p.Thr21926=)
c.65211C>G (p.Thr21737=)
c.62553C>G (p.Thr20851=)
c.62472C>G (p.Thr20824=)
c.44235C>G (p.Thr14745=)
c.34089C>G (p.Thr11363=)
2g.178574792G=CA1310532910TTN,TTN-AS1c.63636C= (p.Thr21212=)
c.44721C= (p.Thr14907=)
c.44520C= (p.Thr14840=)
c.44145C= (p.Thr14715=)
c.71340C= (p.Thr23780=)
c.66417C= (p.Thr22139=)
n.596+3343G=
n.2044-7780G=
c.70437C= (p.Thr23479=)
c.44331C= (p.Thr14777=)
c.44190C= (p.Thr14730=)
c.70233C= (p.Thr23411=)
c.65631C= (p.Thr21877=)
c.65628C= (p.Thr21876=)
c.62670C= (p.Thr20890=)
c.44286C= (p.Thr14762=)
c.65781C= (p.Thr21927=)
c.65778C= (p.Thr21926=)
c.65211C= (p.Thr21737=)
c.62553C= (p.Thr20851=)
c.62472C= (p.Thr20824=)
c.44235C= (p.Thr14745=)
c.34089C= (p.Thr11363=)
2g.178574792G>TCA430257590TTN,TTN-AS1c.63636C>A (p.Thr21212=)
c.44721C>A (p.Thr14907=)
c.44520C>A (p.Thr14840=)
c.44145C>A (p.Thr14715=)
c.71340C>A (p.Thr23780=)
c.66417C>A (p.Thr22139=)
n.596+3343G>T
n.2044-7780G>T
c.70437C>A (p.Thr23479=)
c.44331C>A (p.Thr14777=)
c.44190C>A (p.Thr14730=)
c.70233C>A (p.Thr23411=)
c.65631C>A (p.Thr21877=)
c.65628C>A (p.Thr21876=)
c.62670C>A (p.Thr20890=)
c.44286C>A (p.Thr14762=)
c.65781C>A (p.Thr21927=)
c.65778C>A (p.Thr21926=)
c.65211C>A (p.Thr21737=)
c.62553C>A (p.Thr20851=)
c.62472C>A (p.Thr20824=)
c.44235C>A (p.Thr14745=)
c.34089C>A (p.Thr11363=)
2g.178574793G>ACA1990643TTN,TTN-AS1c.63635C>T (p.Thr21212Ile)
c.44720C>T (p.Thr14907Ile)
c.44519C>T (p.Thr14840Ile)
c.44144C>T (p.Thr14715Ile)
c.71339C>T (p.Thr23780Ile)
c.66416C>T (p.Thr22139Ile)
n.596+3344G>A
n.2044-7779G>A
c.70436C>T (p.Thr23479Ile)
c.44330C>T (p.Thr14777Ile)
c.44189C>T (p.Thr14730Ile)
c.70232C>T (p.Thr23411Ile)
c.65630C>T (p.Thr21877Ile)
c.65627C>T (p.Thr21876Ile)
c.62669C>T (p.Thr20890Ile)
c.44285C>T (p.Thr14762Ile)
c.65780C>T (p.Thr21927Ile)
c.65777C>T (p.Thr21926Ile)
c.65210C>T (p.Thr21737Ile)
c.62552C>T (p.Thr20851Ile)
c.62471C>T (p.Thr20824Ile)
c.44234C>T (p.Thr14745Ile)
c.34088C>T (p.Thr11363Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178574793G>CCA349657840TTN,TTN-AS1c.63635C>G (p.Thr21212Ser)
c.44720C>G (p.Thr14907Ser)
c.44519C>G (p.Thr14840Ser)
c.44144C>G (p.Thr14715Ser)
c.71339C>G (p.Thr23780Ser)
c.66416C>G (p.Thr22139Ser)
n.596+3344G>C
n.2044-7779G>C
c.70436C>G (p.Thr23479Ser)
c.44330C>G (p.Thr14777Ser)
c.44189C>G (p.Thr14730Ser)
c.70232C>G (p.Thr23411Ser)
c.65630C>G (p.Thr21877Ser)
c.65627C>G (p.Thr21876Ser)
c.62669C>G (p.Thr20890Ser)
c.44285C>G (p.Thr14762Ser)
c.65780C>G (p.Thr21927Ser)
c.65777C>G (p.Thr21926Ser)
c.65210C>G (p.Thr21737Ser)
c.62552C>G (p.Thr20851Ser)
c.62471C>G (p.Thr20824Ser)
c.44234C>G (p.Thr14745Ser)
c.34088C>G (p.Thr11363Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178574793G=CA1310532911TTN,TTN-AS1c.63635C= (p.Thr21212=)
c.44720C= (p.Thr14907=)
c.44519C= (p.Thr14840=)
c.44144C= (p.Thr14715=)
c.71339C= (p.Thr23780=)
c.66416C= (p.Thr22139=)
n.596+3344G=
n.2044-7779G=
c.70436C= (p.Thr23479=)
c.44330C= (p.Thr14777=)
c.44189C= (p.Thr14730=)
c.70232C= (p.Thr23411=)
c.65630C= (p.Thr21877=)
c.65627C= (p.Thr21876=)
c.62669C= (p.Thr20890=)
c.44285C= (p.Thr14762=)
c.65780C= (p.Thr21927=)
c.65777C= (p.Thr21926=)
c.65210C= (p.Thr21737=)
c.62552C= (p.Thr20851=)
c.62471C= (p.Thr20824=)
c.44234C= (p.Thr14745=)
c.34088C= (p.Thr11363=)
2g.178574793G>TCA349657843TTN,TTN-AS1c.63635C>A (p.Thr21212Asn)
c.44720C>A (p.Thr14907Asn)
c.44519C>A (p.Thr14840Asn)
c.44144C>A (p.Thr14715Asn)
c.71339C>A (p.Thr23780Asn)
c.66416C>A (p.Thr22139Asn)
n.596+3344G>T
n.2044-7779G>T
c.70436C>A (p.Thr23479Asn)
c.44330C>A (p.Thr14777Asn)
c.44189C>A (p.Thr14730Asn)
c.70232C>A (p.Thr23411Asn)
c.65630C>A (p.Thr21877Asn)
c.65627C>A (p.Thr21876Asn)
c.62669C>A (p.Thr20890Asn)
c.44285C>A (p.Thr14762Asn)
c.65780C>A (p.Thr21927Asn)
c.65777C>A (p.Thr21926Asn)
c.65210C>A (p.Thr21737Asn)
c.62552C>A (p.Thr20851Asn)
c.62471C>A (p.Thr20824Asn)
c.44234C>A (p.Thr14745Asn)
c.34088C>A (p.Thr11363Asn)
2g.178574794T>ACA349657853TTN,TTN-AS1c.63634A>T (p.Thr21212Ser)
c.44719A>T (p.Thr14907Ser)
c.44518A>T (p.Thr14840Ser)
c.44143A>T (p.Thr14715Ser)
c.71338A>T (p.Thr23780Ser)
c.66415A>T (p.Thr22139Ser)
n.596+3345T>A
n.2044-7778T>A
c.70435A>T (p.Thr23479Ser)
c.44329A>T (p.Thr14777Ser)
c.44188A>T (p.Thr14730Ser)
c.70231A>T (p.Thr23411Ser)
c.65629A>T (p.Thr21877Ser)
c.65626A>T (p.Thr21876Ser)
c.62668A>T (p.Thr20890Ser)
c.44284A>T (p.Thr14762Ser)
c.65779A>T (p.Thr21927Ser)
c.65776A>T (p.Thr21926Ser)
c.65209A>T (p.Thr21737Ser)
c.62551A>T (p.Thr20851Ser)
c.62470A>T (p.Thr20824Ser)
c.44233A>T (p.Thr14745Ser)
c.34087A>T (p.Thr11363Ser)
2g.178574794T>CCA1990644TTN,TTN-AS1c.63634A>G (p.Thr21212Ala)
c.44719A>G (p.Thr14907Ala)
c.44518A>G (p.Thr14840Ala)
c.44143A>G (p.Thr14715Ala)
c.71338A>G (p.Thr23780Ala)
c.66415A>G (p.Thr22139Ala)
n.596+3345T>C
n.2044-7778T>C
c.70435A>G (p.Thr23479Ala)
c.44329A>G (p.Thr14777Ala)
c.44188A>G (p.Thr14730Ala)
c.70231A>G (p.Thr23411Ala)
c.65629A>G (p.Thr21877Ala)
c.65626A>G (p.Thr21876Ala)
c.62668A>G (p.Thr20890Ala)
c.44284A>G (p.Thr14762Ala)
c.65779A>G (p.Thr21927Ala)
c.65776A>G (p.Thr21926Ala)
c.65209A>G (p.Thr21737Ala)
c.62551A>G (p.Thr20851Ala)
c.62470A>G (p.Thr20824Ala)
c.44233A>G (p.Thr14745Ala)
c.34087A>G (p.Thr11363Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178574794T>GCA349657846TTN,TTN-AS1c.63634A>C (p.Thr21212Pro)
c.44719A>C (p.Thr14907Pro)
c.44518A>C (p.Thr14840Pro)
c.44143A>C (p.Thr14715Pro)
c.71338A>C (p.Thr23780Pro)
c.66415A>C (p.Thr22139Pro)
n.596+3345T>G
n.2044-7778T>G
c.70435A>C (p.Thr23479Pro)
c.44329A>C (p.Thr14777Pro)
c.44188A>C (p.Thr14730Pro)
c.70231A>C (p.Thr23411Pro)
c.65629A>C (p.Thr21877Pro)
c.65626A>C (p.Thr21876Pro)
c.62668A>C (p.Thr20890Pro)
c.44284A>C (p.Thr14762Pro)
c.65779A>C (p.Thr21927Pro)
c.65776A>C (p.Thr21926Pro)
c.65209A>C (p.Thr21737Pro)
c.62551A>C (p.Thr20851Pro)
c.62470A>C (p.Thr20824Pro)
c.44233A>C (p.Thr14745Pro)
c.34087A>C (p.Thr11363Pro)
2g.178574794T=CA1310532912TTN,TTN-AS1c.63634A= (p.Thr21212=)
c.44719A= (p.Thr14907=)
c.44518A= (p.Thr14840=)
c.44143A= (p.Thr14715=)
c.71338A= (p.Thr23780=)
c.66415A= (p.Thr22139=)
n.596+3345T=
n.2044-7778T=
c.70435A= (p.Thr23479=)
c.44329A= (p.Thr14777=)
c.44188A= (p.Thr14730=)
c.70231A= (p.Thr23411=)
c.65629A= (p.Thr21877=)
c.65626A= (p.Thr21876=)
c.62668A= (p.Thr20890=)
c.44284A= (p.Thr14762=)
c.65779A= (p.Thr21927=)
c.65776A= (p.Thr21926=)
c.65209A= (p.Thr21737=)
c.62551A= (p.Thr20851=)
c.62470A= (p.Thr20824=)
c.44233A= (p.Thr14745=)
c.34087A= (p.Thr11363=)
2g.178574795G>ACA430257591TTN,TTN-AS1c.63633C>T (p.Thr21211=)
c.44718C>T (p.Thr14906=)
c.44517C>T (p.Thr14839=)
c.44142C>T (p.Thr14714=)
c.71337C>T (p.Thr23779=)
c.66414C>T (p.Thr22138=)
n.596+3346G>A
n.2044-7777G>A
c.70434C>T (p.Thr23478=)
c.44328C>T (p.Thr14776=)
c.44187C>T (p.Thr14729=)
c.70230C>T (p.Thr23410=)
c.65628C>T (p.Thr21876=)
c.65625C>T (p.Thr21875=)
c.62667C>T (p.Thr20889=)
c.44283C>T (p.Thr14761=)
c.65778C>T (p.Thr21926=)
c.65775C>T (p.Thr21925=)
c.65208C>T (p.Thr21736=)
c.62550C>T (p.Thr20850=)
c.62469C>T (p.Thr20823=)
c.44232C>T (p.Thr14744=)
c.34086C>T (p.Thr11362=)
2g.178574795G>CCA430257592TTN,TTN-AS1c.63633C>G (p.Thr21211=)
c.44718C>G (p.Thr14906=)
c.44517C>G (p.Thr14839=)
c.44142C>G (p.Thr14714=)
c.71337C>G (p.Thr23779=)
c.66414C>G (p.Thr22138=)
n.596+3346G>C
n.2044-7777G>C
c.70434C>G (p.Thr23478=)
c.44328C>G (p.Thr14776=)
c.44187C>G (p.Thr14729=)
c.70230C>G (p.Thr23410=)
c.65628C>G (p.Thr21876=)
c.65625C>G (p.Thr21875=)
c.62667C>G (p.Thr20889=)
c.44283C>G (p.Thr14761=)
c.65778C>G (p.Thr21926=)
c.65775C>G (p.Thr21925=)
c.65208C>G (p.Thr21736=)
c.62550C>G (p.Thr20850=)
c.62469C>G (p.Thr20823=)
c.44232C>G (p.Thr14744=)
c.34086C>G (p.Thr11362=)
 COSMIC COSMIC COSMIC COSMIC
2g.178574795G>TCA430257593TTN,TTN-AS1c.63633C>A (p.Thr21211=)
c.44718C>A (p.Thr14906=)
c.44517C>A (p.Thr14839=)
c.44142C>A (p.Thr14714=)
c.71337C>A (p.Thr23779=)
c.66414C>A (p.Thr22138=)
n.596+3346G>T
n.2044-7777G>T
c.70434C>A (p.Thr23478=)
c.44328C>A (p.Thr14776=)
c.44187C>A (p.Thr14729=)
c.70230C>A (p.Thr23410=)
c.65628C>A (p.Thr21876=)
c.65625C>A (p.Thr21875=)
c.62667C>A (p.Thr20889=)
c.44283C>A (p.Thr14761=)
c.65778C>A (p.Thr21926=)
c.65775C>A (p.Thr21925=)
c.65208C>A (p.Thr21736=)
c.62550C>A (p.Thr20850=)
c.62469C>A (p.Thr20823=)
c.44232C>A (p.Thr14744=)
c.34086C>A (p.Thr11362=)
2g.178574796delCA645529220TTN,TTN-AS1c.63633del (p.Thr21212ProfsTer16)
c.44718del (p.Thr14907ProfsTer16)
c.44517del (p.Thr14840ProfsTer16)
c.44142del (p.Thr14715ProfsTer16)
c.71337del (p.Thr23780ProfsTer16)
c.66414del (p.Thr22139ProfsTer16)
n.596+3347del
n.2044-7776del
c.70434del (p.Thr23479ProfsTer16)
c.44328del (p.Thr14777ProfsTer16)
c.44187del (p.Thr14730ProfsTer16)
c.70230del (p.Thr23411ProfsTer16)
c.65628del (p.Thr21877ProfsTer16)
c.65625del (p.Thr21876ProfsTer16)
c.62667del (p.Thr20890ProfsTer16)
c.44283del (p.Thr14762ProfsTer16)
c.65778del (p.Thr21927ProfsTer16)
c.65775del (p.Thr21926ProfsTer16)
c.65208del (p.Thr21737ProfsTer16)
c.62550del (p.Thr20851ProfsTer16)
c.62469del (p.Thr20824ProfsTer16)
c.44232del (p.Thr14745ProfsTer16)
c.34086del (p.Thr11363ProfsTer16)
 COSMIC COSMIC COSMIC COSMIC
2g.178574796G>ACA349657861TTN,TTN-AS1c.63632C>T (p.Thr21211Ile)
c.44717C>T (p.Thr14906Ile)
c.44516C>T (p.Thr14839Ile)
c.44141C>T (p.Thr14714Ile)
c.71336C>T (p.Thr23779Ile)
c.66413C>T (p.Thr22138Ile)
n.596+3347G>A
n.2044-7776G>A
c.70433C>T (p.Thr23478Ile)
c.44327C>T (p.Thr14776Ile)
c.44186C>T (p.Thr14729Ile)
c.70229C>T (p.Thr23410Ile)
c.65627C>T (p.Thr21876Ile)
c.65624C>T (p.Thr21875Ile)
c.62666C>T (p.Thr20889Ile)
c.44282C>T (p.Thr14761Ile)
c.65777C>T (p.Thr21926Ile)
c.65774C>T (p.Thr21925Ile)
c.65207C>T (p.Thr21736Ile)
c.62549C>T (p.Thr20850Ile)
c.62468C>T (p.Thr20823Ile)
c.44231C>T (p.Thr14744Ile)
c.34085C>T (p.Thr11362Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178574796G>CCA349657863TTN,TTN-AS1c.63632C>G (p.Thr21211Ser)
c.44717C>G (p.Thr14906Ser)
c.44516C>G (p.Thr14839Ser)
c.44141C>G (p.Thr14714Ser)
c.71336C>G (p.Thr23779Ser)
c.66413C>G (p.Thr22138Ser)
n.596+3347G>C
n.2044-7776G>C
c.70433C>G (p.Thr23478Ser)
c.44327C>G (p.Thr14776Ser)
c.44186C>G (p.Thr14729Ser)
c.70229C>G (p.Thr23410Ser)
c.65627C>G (p.Thr21876Ser)
c.65624C>G (p.Thr21875Ser)
c.62666C>G (p.Thr20889Ser)
c.44282C>G (p.Thr14761Ser)
c.65777C>G (p.Thr21926Ser)
c.65774C>G (p.Thr21925Ser)
c.65207C>G (p.Thr21736Ser)
c.62549C>G (p.Thr20850Ser)
c.62468C>G (p.Thr20823Ser)
c.44231C>G (p.Thr14744Ser)
c.34085C>G (p.Thr11362Ser)
2g.178574796G=CA1310532913TTN,TTN-AS1c.63632C= (p.Thr21211=)
c.44717C= (p.Thr14906=)
c.44516C= (p.Thr14839=)
c.44141C= (p.Thr14714=)
c.71336C= (p.Thr23779=)
c.66413C= (p.Thr22138=)
n.596+3347G=
n.2044-7776G=
c.70433C= (p.Thr23478=)
c.44327C= (p.Thr14776=)
c.44186C= (p.Thr14729=)
c.70229C= (p.Thr23410=)
c.65627C= (p.Thr21876=)
c.65624C= (p.Thr21875=)
c.62666C= (p.Thr20889=)
c.44282C= (p.Thr14761=)
c.65777C= (p.Thr21926=)
c.65774C= (p.Thr21925=)
c.65207C= (p.Thr21736=)
c.62549C= (p.Thr20850=)
c.62468C= (p.Thr20823=)
c.44231C= (p.Thr14744=)
c.34085C= (p.Thr11362=)
2g.178574796G>TCA349657866TTN,TTN-AS1c.63632C>A (p.Thr21211Asn)
c.44717C>A (p.Thr14906Asn)
c.44516C>A (p.Thr14839Asn)
c.44141C>A (p.Thr14714Asn)
c.71336C>A (p.Thr23779Asn)
c.66413C>A (p.Thr22138Asn)
n.596+3347G>T
n.2044-7776G>T
c.70433C>A (p.Thr23478Asn)
c.44327C>A (p.Thr14776Asn)
c.44186C>A (p.Thr14729Asn)
c.70229C>A (p.Thr23410Asn)
c.65627C>A (p.Thr21876Asn)
c.65624C>A (p.Thr21875Asn)
c.62666C>A (p.Thr20889Asn)
c.44282C>A (p.Thr14761Asn)
c.65777C>A (p.Thr21926Asn)
c.65774C>A (p.Thr21925Asn)
c.65207C>A (p.Thr21736Asn)
c.62549C>A (p.Thr20850Asn)
c.62468C>A (p.Thr20823Asn)
c.44231C>A (p.Thr14744Asn)
c.34085C>A (p.Thr11362Asn)
2g.178574797T>ACA349657871TTN,TTN-AS1c.63631A>T (p.Thr21211Ser)
c.44716A>T (p.Thr14906Ser)
c.44515A>T (p.Thr14839Ser)
c.44140A>T (p.Thr14714Ser)
c.71335A>T (p.Thr23779Ser)
c.66412A>T (p.Thr22138Ser)
n.596+3348T>A
n.2044-7775T>A
c.70432A>T (p.Thr23478Ser)
c.44326A>T (p.Thr14776Ser)
c.44185A>T (p.Thr14729Ser)
c.70228A>T (p.Thr23410Ser)
c.65626A>T (p.Thr21876Ser)
c.65623A>T (p.Thr21875Ser)
c.62665A>T (p.Thr20889Ser)
c.44281A>T (p.Thr14761Ser)
c.65776A>T (p.Thr21926Ser)
c.65773A>T (p.Thr21925Ser)
c.65206A>T (p.Thr21736Ser)
c.62548A>T (p.Thr20850Ser)
c.62467A>T (p.Thr20823Ser)
c.44230A>T (p.Thr14744Ser)
c.34084A>T (p.Thr11362Ser)
2g.178574797T>CCA349657874TTN,TTN-AS1c.63631A>G (p.Thr21211Ala)
c.44716A>G (p.Thr14906Ala)
c.44515A>G (p.Thr14839Ala)
c.44140A>G (p.Thr14714Ala)
c.71335A>G (p.Thr23779Ala)
c.66412A>G (p.Thr22138Ala)
n.596+3348T>C
n.2044-7775T>C
c.70432A>G (p.Thr23478Ala)
c.44326A>G (p.Thr14776Ala)
c.44185A>G (p.Thr14729Ala)
c.70228A>G (p.Thr23410Ala)
c.65626A>G (p.Thr21876Ala)
c.65623A>G (p.Thr21875Ala)
c.62665A>G (p.Thr20889Ala)
c.44281A>G (p.Thr14761Ala)
c.65776A>G (p.Thr21926Ala)
c.65773A>G (p.Thr21925Ala)
c.65206A>G (p.Thr21736Ala)
c.62548A>G (p.Thr20850Ala)
c.62467A>G (p.Thr20823Ala)
c.44230A>G (p.Thr14744Ala)
c.34084A>G (p.Thr11362Ala)
2g.178574797T>GCA349657876TTN,TTN-AS1c.63631A>C (p.Thr21211Pro)
c.44716A>C (p.Thr14906Pro)
c.44515A>C (p.Thr14839Pro)
c.44140A>C (p.Thr14714Pro)
c.71335A>C (p.Thr23779Pro)
c.66412A>C (p.Thr22138Pro)
n.596+3348T>G
n.2044-7775T>G
c.70432A>C (p.Thr23478Pro)
c.44326A>C (p.Thr14776Pro)
c.44185A>C (p.Thr14729Pro)
c.70228A>C (p.Thr23410Pro)
c.65626A>C (p.Thr21876Pro)
c.65623A>C (p.Thr21875Pro)
c.62665A>C (p.Thr20889Pro)
c.44281A>C (p.Thr14761Pro)
c.65776A>C (p.Thr21926Pro)
c.65773A>C (p.Thr21925Pro)
c.65206A>C (p.Thr21736Pro)
c.62548A>C (p.Thr20850Pro)
c.62467A>C (p.Thr20823Pro)
c.44230A>C (p.Thr14744Pro)
c.34084A>C (p.Thr11362Pro)
 dbSNP gnomAD v4
2g.178574797T=CA1310532914TTN,TTN-AS1c.63631A= (p.Thr21211=)
c.44716A= (p.Thr14906=)
c.44515A= (p.Thr14839=)
c.44140A= (p.Thr14714=)
c.71335A= (p.Thr23779=)
c.66412A= (p.Thr22138=)
n.596+3348T=
n.2044-7775T=
c.70432A= (p.Thr23478=)
c.44326A= (p.Thr14776=)
c.44185A= (p.Thr14729=)
c.70228A= (p.Thr23410=)
c.65626A= (p.Thr21876=)
c.65623A= (p.Thr21875=)
c.62665A= (p.Thr20889=)
c.44281A= (p.Thr14761=)
c.65776A= (p.Thr21926=)
c.65773A= (p.Thr21925=)
c.65206A= (p.Thr21736=)
c.62548A= (p.Thr20850=)
c.62467A= (p.Thr20823=)
c.44230A= (p.Thr14744=)
c.34084A= (p.Thr11362=)
2g.178574798T>ACA430257598TTN,TTN-AS1c.63630A>T (p.Ala21210=)
c.44715A>T (p.Ala14905=)
c.44514A>T (p.Ala14838=)
c.44139A>T (p.Ala14713=)
c.71334A>T (p.Ala23778=)
c.66411A>T (p.Ala22137=)
n.596+3349T>A
n.2044-7774T>A
c.70431A>T (p.Ala23477=)
c.44325A>T (p.Ala14775=)
c.44184A>T (p.Ala14728=)
c.70227A>T (p.Ala23409=)
c.65625A>T (p.Ala21875=)
c.65622A>T (p.Ala21874=)
c.62664A>T (p.Ala20888=)
c.44280A>T (p.Ala14760=)
c.65775A>T (p.Ala21925=)
c.65772A>T (p.Ala21924=)
c.65205A>T (p.Ala21735=)
c.62547A>T (p.Ala20849=)
c.62466A>T (p.Ala20822=)
c.44229A>T (p.Ala14743=)
c.34083A>T (p.Ala11361=)
2g.178574798T>CCA430257600TTN,TTN-AS1c.63630A>G (p.Ala21210=)
c.44715A>G (p.Ala14905=)
c.44514A>G (p.Ala14838=)
c.44139A>G (p.Ala14713=)
c.71334A>G (p.Ala23778=)
c.66411A>G (p.Ala22137=)
n.596+3349T>C
n.2044-7774T>C
c.70431A>G (p.Ala23477=)
c.44325A>G (p.Ala14775=)
c.44184A>G (p.Ala14728=)
c.70227A>G (p.Ala23409=)
c.65625A>G (p.Ala21875=)
c.65622A>G (p.Ala21874=)
c.62664A>G (p.Ala20888=)
c.44280A>G (p.Ala14760=)
c.65775A>G (p.Ala21925=)
c.65772A>G (p.Ala21924=)
c.65205A>G (p.Ala21735=)
c.62547A>G (p.Ala20849=)
c.62466A>G (p.Ala20822=)
c.44229A>G (p.Ala14743=)
c.34083A>G (p.Ala11361=)
2g.178574798T>GCA430257599TTN,TTN-AS1c.63630A>C (p.Ala21210=)
c.44715A>C (p.Ala14905=)
c.44514A>C (p.Ala14838=)
c.44139A>C (p.Ala14713=)
c.71334A>C (p.Ala23778=)
c.66411A>C (p.Ala22137=)
n.596+3349T>G
n.2044-7774T>G
c.70431A>C (p.Ala23477=)
c.44325A>C (p.Ala14775=)
c.44184A>C (p.Ala14728=)
c.70227A>C (p.Ala23409=)
c.65625A>C (p.Ala21875=)
c.65622A>C (p.Ala21874=)
c.62664A>C (p.Ala20888=)
c.44280A>C (p.Ala14760=)
c.65775A>C (p.Ala21925=)
c.65772A>C (p.Ala21924=)
c.65205A>C (p.Ala21735=)
c.62547A>C (p.Ala20849=)
c.62466A>C (p.Ala20822=)
c.44229A>C (p.Ala14743=)
c.34083A>C (p.Ala11361=)
2g.178574799G>ACA61001904TTN,TTN-AS1c.63629C>T (p.Ala21210Val)
c.44714C>T (p.Ala14905Val)
c.44513C>T (p.Ala14838Val)
c.44138C>T (p.Ala14713Val)
c.71333C>T (p.Ala23778Val)
c.66410C>T (p.Ala22137Val)
n.596+3350G>A
n.2044-7773G>A
c.70430C>T (p.Ala23477Val)
c.44324C>T (p.Ala14775Val)
c.44183C>T (p.Ala14728Val)
c.70226C>T (p.Ala23409Val)
c.65624C>T (p.Ala21875Val)
c.65621C>T (p.Ala21874Val)
c.62663C>T (p.Ala20888Val)
c.44279C>T (p.Ala14760Val)
c.65774C>T (p.Ala21925Val)
c.65771C>T (p.Ala21924Val)
c.65204C>T (p.Ala21735Val)
c.62546C>T (p.Ala20849Val)
c.62465C>T (p.Ala20822Val)
c.44228C>T (p.Ala14743Val)
c.34082C>T (p.Ala11361Val)
 dbSNP
2g.178574799G>CCA349657877TTN,TTN-AS1c.63629C>G (p.Ala21210Gly)
c.44714C>G (p.Ala14905Gly)
c.44513C>G (p.Ala14838Gly)
c.44138C>G (p.Ala14713Gly)
c.71333C>G (p.Ala23778Gly)
c.66410C>G (p.Ala22137Gly)
n.596+3350G>C
n.2044-7773G>C
c.70430C>G (p.Ala23477Gly)
c.44324C>G (p.Ala14775Gly)
c.44183C>G (p.Ala14728Gly)
c.70226C>G (p.Ala23409Gly)
c.65624C>G (p.Ala21875Gly)
c.65621C>G (p.Ala21874Gly)
c.62663C>G (p.Ala20888Gly)
c.44279C>G (p.Ala14760Gly)
c.65774C>G (p.Ala21925Gly)
c.65771C>G (p.Ala21924Gly)
c.65204C>G (p.Ala21735Gly)
c.62546C>G (p.Ala20849Gly)
c.62465C>G (p.Ala20822Gly)
c.44228C>G (p.Ala14743Gly)
c.34082C>G (p.Ala11361Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178574799G=CA1310532915TTN,TTN-AS1c.63629C= (p.Ala21210=)
c.44714C= (p.Ala14905=)
c.44513C= (p.Ala14838=)
c.44138C= (p.Ala14713=)
c.71333C= (p.Ala23778=)
c.66410C= (p.Ala22137=)
n.596+3350G=
n.2044-7773G=
c.70430C= (p.Ala23477=)
c.44324C= (p.Ala14775=)
c.44183C= (p.Ala14728=)
c.70226C= (p.Ala23409=)
c.65624C= (p.Ala21875=)
c.65621C= (p.Ala21874=)
c.62663C= (p.Ala20888=)
c.44279C= (p.Ala14760=)
c.65774C= (p.Ala21925=)
c.65771C= (p.Ala21924=)
c.65204C= (p.Ala21735=)
c.62546C= (p.Ala20849=)
c.62465C= (p.Ala20822=)
c.44228C= (p.Ala14743=)
c.34082C= (p.Ala11361=)
2g.178574799G>TCA349657879TTN,TTN-AS1c.63629C>A (p.Ala21210Glu)
c.44714C>A (p.Ala14905Glu)
c.44513C>A (p.Ala14838Glu)
c.44138C>A (p.Ala14713Glu)
c.71333C>A (p.Ala23778Glu)
c.66410C>A (p.Ala22137Glu)
n.596+3350G>T
n.2044-7773G>T
c.70430C>A (p.Ala23477Glu)
c.44324C>A (p.Ala14775Glu)
c.44183C>A (p.Ala14728Glu)
c.70226C>A (p.Ala23409Glu)
c.65624C>A (p.Ala21875Glu)
c.65621C>A (p.Ala21874Glu)
c.62663C>A (p.Ala20888Glu)
c.44279C>A (p.Ala14760Glu)
c.65774C>A (p.Ala21925Glu)
c.65771C>A (p.Ala21924Glu)
c.65204C>A (p.Ala21735Glu)
c.62546C>A (p.Ala20849Glu)
c.62465C>A (p.Ala20822Glu)
c.44228C>A (p.Ala14743Glu)
c.34082C>A (p.Ala11361Glu)
2g.178574800C>ACA349657881TTN,TTN-AS1c.63628G>T (p.Ala21210Ser)
c.44713G>T (p.Ala14905Ser)
c.44512G>T (p.Ala14838Ser)
c.44137G>T (p.Ala14713Ser)
c.71332G>T (p.Ala23778Ser)
c.66409G>T (p.Ala22137Ser)
n.596+3351C>A
n.2044-7772C>A
c.70429G>T (p.Ala23477Ser)
c.44323G>T (p.Ala14775Ser)
c.44182G>T (p.Ala14728Ser)
c.70225G>T (p.Ala23409Ser)
c.65623G>T (p.Ala21875Ser)
c.65620G>T (p.Ala21874Ser)
c.62662G>T (p.Ala20888Ser)
c.44278G>T (p.Ala14760Ser)
c.65773G>T (p.Ala21925Ser)
c.65770G>T (p.Ala21924Ser)
c.65203G>T (p.Ala21735Ser)
c.62545G>T (p.Ala20849Ser)
c.62464G>T (p.Ala20822Ser)
c.44227G>T (p.Ala14743Ser)
c.34081G>T (p.Ala11361Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178574800C=CA1310532916TTN,TTN-AS1c.63628G= (p.Ala21210=)
c.44713G= (p.Ala14905=)
c.44512G= (p.Ala14838=)
c.44137G= (p.Ala14713=)
c.71332G= (p.Ala23778=)
c.66409G= (p.Ala22137=)
n.596+3351C=
n.2044-7772C=
c.70429G= (p.Ala23477=)
c.44323G= (p.Ala14775=)
c.44182G= (p.Ala14728=)
c.70225G= (p.Ala23409=)
c.65623G= (p.Ala21875=)
c.65620G= (p.Ala21874=)
c.62662G= (p.Ala20888=)
c.44278G= (p.Ala14760=)
c.65773G= (p.Ala21925=)
c.65770G= (p.Ala21924=)
c.65203G= (p.Ala21735=)
c.62545G= (p.Ala20849=)
c.62464G= (p.Ala20822=)
c.44227G= (p.Ala14743=)
c.34081G= (p.Ala11361=)
2g.178574800C>GCA349657884TTN,TTN-AS1c.63628G>C (p.Ala21210Pro)
c.44713G>C (p.Ala14905Pro)
c.44512G>C (p.Ala14838Pro)
c.44137G>C (p.Ala14713Pro)
c.71332G>C (p.Ala23778Pro)
c.66409G>C (p.Ala22137Pro)
n.596+3351C>G
n.2044-7772C>G
c.70429G>C (p.Ala23477Pro)
c.44323G>C (p.Ala14775Pro)
c.44182G>C (p.Ala14728Pro)
c.70225G>C (p.Ala23409Pro)
c.65623G>C (p.Ala21875Pro)
c.65620G>C (p.Ala21874Pro)
c.62662G>C (p.Ala20888Pro)
c.44278G>C (p.Ala14760Pro)
c.65773G>C (p.Ala21925Pro)
c.65770G>C (p.Ala21924Pro)
c.65203G>C (p.Ala21735Pro)
c.62545G>C (p.Ala20849Pro)
c.62464G>C (p.Ala20822Pro)
c.44227G>C (p.Ala14743Pro)
c.34081G>C (p.Ala11361Pro)
2g.178574800C>TCA178523TTN,TTN-AS1c.63628G>A (p.Ala21210Thr)
c.44713G>A (p.Ala14905Thr)
c.44512G>A (p.Ala14838Thr)
c.44137G>A (p.Ala14713Thr)
c.71332G>A (p.Ala23778Thr)
c.66409G>A (p.Ala22137Thr)
n.596+3351C>T
n.2044-7772C>T
c.70429G>A (p.Ala23477Thr)
c.44323G>A (p.Ala14775Thr)
c.44182G>A (p.Ala14728Thr)
c.70225G>A (p.Ala23409Thr)
c.65623G>A (p.Ala21875Thr)
c.65620G>A (p.Ala21874Thr)
c.62662G>A (p.Ala20888Thr)
c.44278G>A (p.Ala14760Thr)
c.65773G>A (p.Ala21925Thr)
c.65770G>A (p.Ala21924Thr)
c.65203G>A (p.Ala21735Thr)
c.62545G>A (p.Ala20849Thr)
c.62464G>A (p.Ala20822Thr)
c.44227G>A (p.Ala14743Thr)
c.34081G>A (p.Ala11361Thr)
 ClinVar dbSNP
2g.178574802_178574805dupCA1139657510TTN,TTN-AS1c.63625_63628dup (p.Ala21210ValfsTer11)
c.44710_44713dup (p.Ala14905ValfsTer11)
c.44509_44512dup (p.Ala14838ValfsTer11)
c.44134_44137dup (p.Ala14713ValfsTer11)
c.71329_71332dup (p.Ala23778ValfsTer11)
c.66406_66409dup (p.Ala22137ValfsTer11)
n.596+3353_596+3356dup
n.2044-7770_2044-7767dup
c.70426_70429dup (p.Ala23477ValfsTer11)
c.44320_44323dup (p.Ala14775ValfsTer11)
c.44179_44182dup (p.Ala14728ValfsTer11)
c.70222_70225dup (p.Ala23409ValfsTer11)
c.65620_65623dup (p.Ala21875ValfsTer11)
c.65617_65620dup (p.Ala21874ValfsTer11)
c.62659_62662dup (p.Ala20888ValfsTer11)
c.44275_44278dup (p.Ala14760ValfsTer11)
c.65770_65773dup (p.Ala21925ValfsTer11)
c.65767_65770dup (p.Ala21924ValfsTer11)
c.65200_65203dup (p.Ala21735ValfsTer11)
c.62542_62545dup (p.Ala20849ValfsTer11)
c.62461_62464dup (p.Ala20822ValfsTer11)
c.44224_44227dup (p.Ala14743ValfsTer11)
c.34078_34081dup (p.Ala11361ValfsTer11)
 ClinVar dbSNP
2g.178574801T>ACA349657887TTN,TTN-AS1c.63627A>T (p.Leu21209Phe)
c.44712A>T (p.Leu14904Phe)
c.44511A>T (p.Leu14837Phe)
c.44136A>T (p.Leu14712Phe)
c.71331A>T (p.Leu23777Phe)
c.66408A>T (p.Leu22136Phe)
n.596+3352T>A
n.2044-7771T>A
c.70428A>T (p.Leu23476Phe)
c.44322A>T (p.Leu14774Phe)
c.44181A>T (p.Leu14727Phe)
c.70224A>T (p.Leu23408Phe)
c.65622A>T (p.Leu21874Phe)
c.65619A>T (p.Leu21873Phe)
c.62661A>T (p.Leu20887Phe)
c.44277A>T (p.Leu14759Phe)
c.65772A>T (p.Leu21924Phe)
c.65769A>T (p.Leu21923Phe)
c.65202A>T (p.Leu21734Phe)
c.62544A>T (p.Leu20848Phe)
c.62463A>T (p.Leu20821Phe)
c.44226A>T (p.Leu14742Phe)
c.34080A>T (p.Leu11360Phe)
2g.178574801T>CCA430257602TTN,TTN-AS1c.63627A>G (p.Leu21209=)
c.44712A>G (p.Leu14904=)
c.44511A>G (p.Leu14837=)
c.44136A>G (p.Leu14712=)
c.71331A>G (p.Leu23777=)
c.66408A>G (p.Leu22136=)
n.596+3352T>C
n.2044-7771T>C
c.70428A>G (p.Leu23476=)
c.44322A>G (p.Leu14774=)
c.44181A>G (p.Leu14727=)
c.70224A>G (p.Leu23408=)
c.65622A>G (p.Leu21874=)
c.65619A>G (p.Leu21873=)
c.62661A>G (p.Leu20887=)
c.44277A>G (p.Leu14759=)
c.65772A>G (p.Leu21924=)
c.65769A>G (p.Leu21923=)
c.65202A>G (p.Leu21734=)
c.62544A>G (p.Leu20848=)
c.62463A>G (p.Leu20821=)
c.44226A>G (p.Leu14742=)
c.34080A>G (p.Leu11360=)
2g.178574801T>GCA349657889TTN,TTN-AS1c.63627A>C (p.Leu21209Phe)
c.44712A>C (p.Leu14904Phe)
c.44511A>C (p.Leu14837Phe)
c.44136A>C (p.Leu14712Phe)
c.71331A>C (p.Leu23777Phe)
c.66408A>C (p.Leu22136Phe)
n.596+3352T>G
n.2044-7771T>G
c.70428A>C (p.Leu23476Phe)
c.44322A>C (p.Leu14774Phe)
c.44181A>C (p.Leu14727Phe)
c.70224A>C (p.Leu23408Phe)
c.65622A>C (p.Leu21874Phe)
c.65619A>C (p.Leu21873Phe)
c.62661A>C (p.Leu20887Phe)
c.44277A>C (p.Leu14759Phe)
c.65772A>C (p.Leu21924Phe)
c.65769A>C (p.Leu21923Phe)
c.65202A>C (p.Leu21734Phe)
c.62544A>C (p.Leu20848Phe)
c.62463A>C (p.Leu20821Phe)
c.44226A>C (p.Leu14742Phe)
c.34080A>C (p.Leu11360Phe)
2g.178574802A>CCA349657891TTN,TTN-AS1c.63626T>G (p.Leu21209Ter)
c.44711T>G (p.Leu14904Ter)
c.44510T>G (p.Leu14837Ter)
c.44135T>G (p.Leu14712Ter)
c.71330T>G (p.Leu23777Ter)
c.66407T>G (p.Leu22136Ter)
n.596+3353A>C
n.2044-7770A>C
c.70427T>G (p.Leu23476Ter)
c.44321T>G (p.Leu14774Ter)
c.44180T>G (p.Leu14727Ter)
c.70223T>G (p.Leu23408Ter)
c.65621T>G (p.Leu21874Ter)
c.65618T>G (p.Leu21873Ter)
c.62660T>G (p.Leu20887Ter)
c.44276T>G (p.Leu14759Ter)
c.65771T>G (p.Leu21924Ter)
c.65768T>G (p.Leu21923Ter)
c.65201T>G (p.Leu21734Ter)
c.62543T>G (p.Leu20848Ter)
c.62462T>G (p.Leu20821Ter)
c.44225T>G (p.Leu14742Ter)
c.34079T>G (p.Leu11360Ter)
2g.178574802A>GCA349657895TTN,TTN-AS1c.63626T>C (p.Leu21209Ser)
c.44711T>C (p.Leu14904Ser)
c.44510T>C (p.Leu14837Ser)
c.44135T>C (p.Leu14712Ser)
c.71330T>C (p.Leu23777Ser)
c.66407T>C (p.Leu22136Ser)
n.596+3353A>G
n.2044-7770A>G
c.70427T>C (p.Leu23476Ser)
c.44321T>C (p.Leu14774Ser)
c.44180T>C (p.Leu14727Ser)
c.70223T>C (p.Leu23408Ser)
c.65621T>C (p.Leu21874Ser)
c.65618T>C (p.Leu21873Ser)
c.62660T>C (p.Leu20887Ser)
c.44276T>C (p.Leu14759Ser)
c.65771T>C (p.Leu21924Ser)
c.65768T>C (p.Leu21923Ser)
c.65201T>C (p.Leu21734Ser)
c.62543T>C (p.Leu20848Ser)
c.62462T>C (p.Leu20821Ser)
c.44225T>C (p.Leu14742Ser)
c.34079T>C (p.Leu11360Ser)
2g.178574802A>TCA349657890TTN,TTN-AS1c.63626T>A (p.Leu21209Ter)
c.44711T>A (p.Leu14904Ter)
c.44510T>A (p.Leu14837Ter)
c.44135T>A (p.Leu14712Ter)
c.71330T>A (p.Leu23777Ter)
c.66407T>A (p.Leu22136Ter)
n.596+3353A>T
n.2044-7770A>T
c.70427T>A (p.Leu23476Ter)
c.44321T>A (p.Leu14774Ter)
c.44180T>A (p.Leu14727Ter)
c.70223T>A (p.Leu23408Ter)
c.65621T>A (p.Leu21874Ter)
c.65618T>A (p.Leu21873Ter)
c.62660T>A (p.Leu20887Ter)
c.44276T>A (p.Leu14759Ter)
c.65771T>A (p.Leu21924Ter)
c.65768T>A (p.Leu21923Ter)
c.65201T>A (p.Leu21734Ter)
c.62543T>A (p.Leu20848Ter)
c.62462T>A (p.Leu20821Ter)
c.44225T>A (p.Leu14742Ter)
c.34079T>A (p.Leu11360Ter)
2g.178574803A>CCA349657896TTN,TTN-AS1c.63625T>G (p.Leu21209Val)
c.44710T>G (p.Leu14904Val)
c.44509T>G (p.Leu14837Val)
c.44134T>G (p.Leu14712Val)
c.71329T>G (p.Leu23777Val)
c.66406T>G (p.Leu22136Val)
n.596+3354A>C
n.2044-7769A>C
c.70426T>G (p.Leu23476Val)
c.44320T>G (p.Leu14774Val)
c.44179T>G (p.Leu14727Val)
c.70222T>G (p.Leu23408Val)
c.65620T>G (p.Leu21874Val)
c.65617T>G (p.Leu21873Val)
c.62659T>G (p.Leu20887Val)
c.44275T>G (p.Leu14759Val)
c.65770T>G (p.Leu21924Val)
c.65767T>G (p.Leu21923Val)
c.65200T>G (p.Leu21734Val)
c.62542T>G (p.Leu20848Val)
c.62461T>G (p.Leu20821Val)
c.44224T>G (p.Leu14742Val)
c.34078T>G (p.Leu11360Val)
2g.178574803A>GCA430257607TTN,TTN-AS1c.63625T>C (p.Leu21209=)
c.44710T>C (p.Leu14904=)
c.44509T>C (p.Leu14837=)
c.44134T>C (p.Leu14712=)
c.71329T>C (p.Leu23777=)
c.66406T>C (p.Leu22136=)
n.596+3354A>G
n.2044-7769A>G
c.70426T>C (p.Leu23476=)
c.44320T>C (p.Leu14774=)
c.44179T>C (p.Leu14727=)
c.70222T>C (p.Leu23408=)
c.65620T>C (p.Leu21874=)
c.65617T>C (p.Leu21873=)
c.62659T>C (p.Leu20887=)
c.44275T>C (p.Leu14759=)
c.65770T>C (p.Leu21924=)
c.65767T>C (p.Leu21923=)
c.65200T>C (p.Leu21734=)
c.62542T>C (p.Leu20848=)
c.62461T>C (p.Leu20821=)
c.44224T>C (p.Leu14742=)
c.34078T>C (p.Leu11360=)
2g.178574803A>TCA349657898TTN,TTN-AS1c.63625T>A (p.Leu21209Ile)
c.44710T>A (p.Leu14904Ile)
c.44509T>A (p.Leu14837Ile)
c.44134T>A (p.Leu14712Ile)
c.71329T>A (p.Leu23777Ile)
c.66406T>A (p.Leu22136Ile)
n.596+3354A>T
n.2044-7769A>T
c.70426T>A (p.Leu23476Ile)
c.44320T>A (p.Leu14774Ile)
c.44179T>A (p.Leu14727Ile)
c.70222T>A (p.Leu23408Ile)
c.65620T>A (p.Leu21874Ile)
c.65617T>A (p.Leu21873Ile)
c.62659T>A (p.Leu20887Ile)
c.44275T>A (p.Leu14759Ile)
c.65770T>A (p.Leu21924Ile)
c.65767T>A (p.Leu21923Ile)
c.65200T>A (p.Leu21734Ile)
c.62542T>A (p.Leu20848Ile)
c.62461T>A (p.Leu20821Ile)
c.44224T>A (p.Leu14742Ile)
c.34078T>A (p.Leu11360Ile)
2g.178574804C>ACA349657900TTN,TTN-AS1c.63624G>T (p.Glu21208Asp)
c.44709G>T (p.Glu14903Asp)
c.44508G>T (p.Glu14836Asp)
c.44133G>T (p.Glu14711Asp)
c.71328G>T (p.Glu23776Asp)
c.66405G>T (p.Glu22135Asp)
n.596+3355C>A
n.2044-7768C>A
c.70425G>T (p.Glu23475Asp)
c.44319G>T (p.Glu14773Asp)
c.44178G>T (p.Glu14726Asp)
c.70221G>T (p.Glu23407Asp)
c.65619G>T (p.Glu21873Asp)
c.65616G>T (p.Glu21872Asp)
c.62658G>T (p.Glu20886Asp)
c.44274G>T (p.Glu14758Asp)
c.65769G>T (p.Glu21923Asp)
c.65766G>T (p.Glu21922Asp)
c.65199G>T (p.Glu21733Asp)
c.62541G>T (p.Glu20847Asp)
c.62460G>T (p.Glu20820Asp)
c.44223G>T (p.Glu14741Asp)
c.34077G>T (p.Glu11359Asp)

Number of alleles fetched