Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530119_178530242delCA2753330714TTN,TTN-AS1c.98670+2_98671del
c.79755+2_79756del
c.79554+2_79555del
c.79179+2_79180del
c.106374+2_106375del
c.101451+2_101452del
n.446+6483_446+6606del
n.220-5613_220-5490del
c.105471+2_105472del
c.79365+2_79366del
c.79224+2_79225del
c.105267+2_105268del
c.100665+2_100666del
c.100662+2_100663del
c.97704+2_97705del
c.79320+2_79321del
c.100815+2_100816del
c.100812+2_100813del
c.100245+2_100246del
c.97587+2_97588del
c.97506+2_97507del
c.79269+2_79270del
c.69123+2_69124del
2g.178530219_178530222delinsGAGACA1310511633TTN,TTN-AS1c.98670+19_98670+22delinsTCTC (n.98670+19_98670+22delinsTCTC)
c.79755+19_79755+22delinsTCTC (n.79755+19_79755+22delinsTCTC)
c.79554+19_79554+22delinsTCTC (n.79554+19_79554+22delinsTCTC)
c.79179+19_79179+22delinsTCTC (n.79179+19_79179+22delinsTCTC)
c.106374+19_106374+22delinsTCTC (n.106374+19_106374+22delinsTCTC)
c.101451+19_101451+22delinsTCTC (n.101451+19_101451+22delinsTCTC)
n.446+6583_446+6586delinsGAGA
n.220-5513_220-5510delinsGAGA
c.105471+19_105471+22delinsTCTC (n.105471+19_105471+22delinsTCTC)
c.79365+19_79365+22delinsTCTC (n.79365+19_79365+22delinsTCTC)
c.79224+19_79224+22delinsTCTC (n.79224+19_79224+22delinsTCTC)
c.105267+19_105267+22delinsTCTC (n.105267+19_105267+22delinsTCTC)
c.100665+19_100665+22delinsTCTC (n.100665+19_100665+22delinsTCTC)
c.100662+19_100662+22delinsTCTC (n.100662+19_100662+22delinsTCTC)
c.97704+19_97704+22delinsTCTC (n.97704+19_97704+22delinsTCTC)
c.79320+19_79320+22delinsTCTC (n.79320+19_79320+22delinsTCTC)
c.100815+19_100815+22delinsTCTC (n.100815+19_100815+22delinsTCTC)
c.100812+19_100812+22delinsTCTC (n.100812+19_100812+22delinsTCTC)
c.100245+19_100245+22delinsTCTC (n.100245+19_100245+22delinsTCTC)
c.97587+19_97587+22delinsTCTC (n.97587+19_97587+22delinsTCTC)
c.97506+19_97506+22delinsTCTC (n.97506+19_97506+22delinsTCTC)
c.79269+19_79269+22delinsTCTC (n.79269+19_79269+22delinsTCTC)
c.69123+19_69123+22delinsTCTC (n.69123+19_69123+22delinsTCTC)
2g.178530220_178530222delCA538434974TTN,TTN-AS1c.98670+19_98670+21del (n.98670+19_98670+21del)
c.79755+19_79755+21del (n.79755+19_79755+21del)
c.79554+19_79554+21del (n.79554+19_79554+21del)
c.79179+19_79179+21del (n.79179+19_79179+21del)
c.106374+19_106374+21del (n.106374+19_106374+21del)
c.101451+19_101451+21del (n.101451+19_101451+21del)
n.446+6584_446+6586del
n.220-5512_220-5510del
c.105471+19_105471+21del (n.105471+19_105471+21del)
c.79365+19_79365+21del (n.79365+19_79365+21del)
c.79224+19_79224+21del (n.79224+19_79224+21del)
c.105267+19_105267+21del (n.105267+19_105267+21del)
c.100665+19_100665+21del (n.100665+19_100665+21del)
c.100662+19_100662+21del (n.100662+19_100662+21del)
c.97704+19_97704+21del (n.97704+19_97704+21del)
c.79320+19_79320+21del (n.79320+19_79320+21del)
c.100815+19_100815+21del (n.100815+19_100815+21del)
c.100812+19_100812+21del (n.100812+19_100812+21del)
c.100245+19_100245+21del (n.100245+19_100245+21del)
c.97587+19_97587+21del (n.97587+19_97587+21del)
c.97506+19_97506+21del (n.97506+19_97506+21del)
c.79269+19_79269+21del (n.79269+19_79269+21del)
c.69123+19_69123+21del (n.69123+19_69123+21del)
 dbSNP gnomAD v2
2g.178530221G>ACA2662125540TTN,TTN-AS1c.98670+20C>T (n.98670+20C>T)
c.79755+20C>T (n.79755+20C>T)
c.79554+20C>T (n.79554+20C>T)
c.79179+20C>T (n.79179+20C>T)
c.106374+20C>T (n.106374+20C>T)
c.101451+20C>T (n.101451+20C>T)
n.446+6585G>A
n.220-5511G>A
c.105471+20C>T (n.105471+20C>T)
c.79365+20C>T (n.79365+20C>T)
c.79224+20C>T (n.79224+20C>T)
c.105267+20C>T (n.105267+20C>T)
c.100665+20C>T (n.100665+20C>T)
c.100662+20C>T (n.100662+20C>T)
c.97704+20C>T (n.97704+20C>T)
c.79320+20C>T (n.79320+20C>T)
c.100815+20C>T (n.100815+20C>T)
c.100812+20C>T (n.100812+20C>T)
c.100245+20C>T (n.100245+20C>T)
c.97587+20C>T (n.97587+20C>T)
c.97506+20C>T (n.97506+20C>T)
c.79269+20C>T (n.79269+20C>T)
c.69123+20C>T (n.69123+20C>T)
 gnomAD v4
2g.178530221G>CCA2662125542TTN,TTN-AS1c.98670+20C>G (n.98670+20C>G)
c.79755+20C>G (n.79755+20C>G)
c.79554+20C>G (n.79554+20C>G)
c.79179+20C>G (n.79179+20C>G)
c.106374+20C>G (n.106374+20C>G)
c.101451+20C>G (n.101451+20C>G)
n.446+6585G>C
n.220-5511G>C
c.105471+20C>G (n.105471+20C>G)
c.79365+20C>G (n.79365+20C>G)
c.79224+20C>G (n.79224+20C>G)
c.105267+20C>G (n.105267+20C>G)
c.100665+20C>G (n.100665+20C>G)
c.100662+20C>G (n.100662+20C>G)
c.97704+20C>G (n.97704+20C>G)
c.79320+20C>G (n.79320+20C>G)
c.100815+20C>G (n.100815+20C>G)
c.100812+20C>G (n.100812+20C>G)
c.100245+20C>G (n.100245+20C>G)
c.97587+20C>G (n.97587+20C>G)
c.97506+20C>G (n.97506+20C>G)
c.79269+20C>G (n.79269+20C>G)
c.69123+20C>G (n.69123+20C>G)
 gnomAD v4
2g.178530223C>ACA2662125544TTN,TTN-AS1c.98670+18G>T (n.98670+18G>T)
c.79755+18G>T (n.79755+18G>T)
c.79554+18G>T (n.79554+18G>T)
c.79179+18G>T (n.79179+18G>T)
c.106374+18G>T (n.106374+18G>T)
c.101451+18G>T (n.101451+18G>T)
n.446+6587C>A
n.220-5509C>A
c.105471+18G>T (n.105471+18G>T)
c.79365+18G>T (n.79365+18G>T)
c.79224+18G>T (n.79224+18G>T)
c.105267+18G>T (n.105267+18G>T)
c.100665+18G>T (n.100665+18G>T)
c.100662+18G>T (n.100662+18G>T)
c.97704+18G>T (n.97704+18G>T)
c.79320+18G>T (n.79320+18G>T)
c.100815+18G>T (n.100815+18G>T)
c.100812+18G>T (n.100812+18G>T)
c.100245+18G>T (n.100245+18G>T)
c.97587+18G>T (n.97587+18G>T)
c.97506+18G>T (n.97506+18G>T)
c.79269+18G>T (n.79269+18G>T)
c.69123+18G>T (n.69123+18G>T)
 gnomAD v4
2g.178530223C=CA1310511636TTN,TTN-AS1c.98670+18G= (n.98670+18G=)
c.79755+18G= (n.79755+18G=)
c.79554+18G= (n.79554+18G=)
c.79179+18G= (n.79179+18G=)
c.106374+18G= (n.106374+18G=)
c.101451+18G= (n.101451+18G=)
n.446+6587C=
n.220-5509C=
c.105471+18G= (n.105471+18G=)
c.79365+18G= (n.79365+18G=)
c.79224+18G= (n.79224+18G=)
c.105267+18G= (n.105267+18G=)
c.100665+18G= (n.100665+18G=)
c.100662+18G= (n.100662+18G=)
c.97704+18G= (n.97704+18G=)
c.79320+18G= (n.79320+18G=)
c.100815+18G= (n.100815+18G=)
c.100812+18G= (n.100812+18G=)
c.100245+18G= (n.100245+18G=)
c.97587+18G= (n.97587+18G=)
c.97506+18G= (n.97506+18G=)
c.79269+18G= (n.79269+18G=)
c.69123+18G= (n.69123+18G=)
2g.178530223C>TCA538434975TTN,TTN-AS1c.98670+18G>A (n.98670+18G>A)
c.79755+18G>A (n.79755+18G>A)
c.79554+18G>A (n.79554+18G>A)
c.79179+18G>A (n.79179+18G>A)
c.106374+18G>A (n.106374+18G>A)
c.101451+18G>A (n.101451+18G>A)
n.446+6587C>T
n.220-5509C>T
c.105471+18G>A (n.105471+18G>A)
c.79365+18G>A (n.79365+18G>A)
c.79224+18G>A (n.79224+18G>A)
c.105267+18G>A (n.105267+18G>A)
c.100665+18G>A (n.100665+18G>A)
c.100662+18G>A (n.100662+18G>A)
c.97704+18G>A (n.97704+18G>A)
c.79320+18G>A (n.79320+18G>A)
c.100815+18G>A (n.100815+18G>A)
c.100812+18G>A (n.100812+18G>A)
c.100245+18G>A (n.100245+18G>A)
c.97587+18G>A (n.97587+18G>A)
c.97506+18G>A (n.97506+18G>A)
c.79269+18G>A (n.79269+18G>A)
c.69123+18G>A (n.69123+18G>A)
 dbSNP gnomAD v2
2g.178530227T>CCA60953186TTN,TTN-AS1c.98670+14A>G (n.98670+14A>G)
c.79755+14A>G (n.79755+14A>G)
c.79554+14A>G (n.79554+14A>G)
c.79179+14A>G (n.79179+14A>G)
c.106374+14A>G (n.106374+14A>G)
c.101451+14A>G (n.101451+14A>G)
n.446+6591T>C
n.220-5505T>C
c.105471+14A>G (n.105471+14A>G)
c.79365+14A>G (n.79365+14A>G)
c.79224+14A>G (n.79224+14A>G)
c.105267+14A>G (n.105267+14A>G)
c.100665+14A>G (n.100665+14A>G)
c.100662+14A>G (n.100662+14A>G)
c.97704+14A>G (n.97704+14A>G)
c.79320+14A>G (n.79320+14A>G)
c.100815+14A>G (n.100815+14A>G)
c.100812+14A>G (n.100812+14A>G)
c.100245+14A>G (n.100245+14A>G)
c.97587+14A>G (n.97587+14A>G)
c.97506+14A>G (n.97506+14A>G)
c.79269+14A>G (n.79269+14A>G)
c.69123+14A>G (n.69123+14A>G)
 dbSNP
2g.178530227T=CA1310511638TTN,TTN-AS1c.98670+14A= (n.98670+14A=)
c.79755+14A= (n.79755+14A=)
c.79554+14A= (n.79554+14A=)
c.79179+14A= (n.79179+14A=)
c.106374+14A= (n.106374+14A=)
c.101451+14A= (n.101451+14A=)
n.446+6591T=
n.220-5505T=
c.105471+14A= (n.105471+14A=)
c.79365+14A= (n.79365+14A=)
c.79224+14A= (n.79224+14A=)
c.105267+14A= (n.105267+14A=)
c.100665+14A= (n.100665+14A=)
c.100662+14A= (n.100662+14A=)
c.97704+14A= (n.97704+14A=)
c.79320+14A= (n.79320+14A=)
c.100815+14A= (n.100815+14A=)
c.100812+14A= (n.100812+14A=)
c.100245+14A= (n.100245+14A=)
c.97587+14A= (n.97587+14A=)
c.97506+14A= (n.97506+14A=)
c.79269+14A= (n.79269+14A=)
c.69123+14A= (n.69123+14A=)
2g.178530230G>ACA2662125545TTN,TTN-AS1c.98670+11C>T (n.98670+11C>T)
c.79755+11C>T (n.79755+11C>T)
c.79554+11C>T (n.79554+11C>T)
c.79179+11C>T (n.79179+11C>T)
c.106374+11C>T (n.106374+11C>T)
c.101451+11C>T (n.101451+11C>T)
n.446+6594G>A
n.220-5502G>A
c.105471+11C>T (n.105471+11C>T)
c.79365+11C>T (n.79365+11C>T)
c.79224+11C>T (n.79224+11C>T)
c.105267+11C>T (n.105267+11C>T)
c.100665+11C>T (n.100665+11C>T)
c.100662+11C>T (n.100662+11C>T)
c.97704+11C>T (n.97704+11C>T)
c.79320+11C>T (n.79320+11C>T)
c.100815+11C>T (n.100815+11C>T)
c.100812+11C>T (n.100812+11C>T)
c.100245+11C>T (n.100245+11C>T)
c.97587+11C>T (n.97587+11C>T)
c.97506+11C>T (n.97506+11C>T)
c.79269+11C>T (n.79269+11C>T)
c.69123+11C>T (n.69123+11C>T)
 gnomAD v4
2g.178530232A>CCA2662125546TTN,TTN-AS1c.98670+9T>G (n.98670+9T>G)
c.79755+9T>G (n.79755+9T>G)
c.79554+9T>G (n.79554+9T>G)
c.79179+9T>G (n.79179+9T>G)
c.106374+9T>G (n.106374+9T>G)
c.101451+9T>G (n.101451+9T>G)
n.446+6596A>C
n.220-5500A>C
c.105471+9T>G (n.105471+9T>G)
c.79365+9T>G (n.79365+9T>G)
c.79224+9T>G (n.79224+9T>G)
c.105267+9T>G (n.105267+9T>G)
c.100665+9T>G (n.100665+9T>G)
c.100662+9T>G (n.100662+9T>G)
c.97704+9T>G (n.97704+9T>G)
c.79320+9T>G (n.79320+9T>G)
c.100815+9T>G (n.100815+9T>G)
c.100812+9T>G (n.100812+9T>G)
c.100245+9T>G (n.100245+9T>G)
c.97587+9T>G (n.97587+9T>G)
c.97506+9T>G (n.97506+9T>G)
c.79269+9T>G (n.79269+9T>G)
c.69123+9T>G (n.69123+9T>G)
 gnomAD v4
2g.178530233C>GCA2662125547TTN,TTN-AS1c.98670+8G>C (n.98670+8G>C)
c.79755+8G>C (n.79755+8G>C)
c.79554+8G>C (n.79554+8G>C)
c.79179+8G>C (n.79179+8G>C)
c.106374+8G>C (n.106374+8G>C)
c.101451+8G>C (n.101451+8G>C)
n.446+6597C>G
n.220-5499C>G
c.105471+8G>C (n.105471+8G>C)
c.79365+8G>C (n.79365+8G>C)
c.79224+8G>C (n.79224+8G>C)
c.105267+8G>C (n.105267+8G>C)
c.100665+8G>C (n.100665+8G>C)
c.100662+8G>C (n.100662+8G>C)
c.97704+8G>C (n.97704+8G>C)
c.79320+8G>C (n.79320+8G>C)
c.100815+8G>C (n.100815+8G>C)
c.100812+8G>C (n.100812+8G>C)
c.100245+8G>C (n.100245+8G>C)
c.97587+8G>C (n.97587+8G>C)
c.97506+8G>C (n.97506+8G>C)
c.79269+8G>C (n.79269+8G>C)
c.69123+8G>C (n.69123+8G>C)
 gnomAD v4
2g.178530236G>ACA2563514932TTN,TTN-AS1c.98670+5C>T (n.98670+5C>T)
c.79755+5C>T (n.79755+5C>T)
c.79554+5C>T (n.79554+5C>T)
c.79179+5C>T (n.79179+5C>T)
c.106374+5C>T (n.106374+5C>T)
c.101451+5C>T (n.101451+5C>T)
n.446+6600G>A
n.220-5496G>A
c.105471+5C>T (n.105471+5C>T)
c.79365+5C>T (n.79365+5C>T)
c.79224+5C>T (n.79224+5C>T)
c.105267+5C>T (n.105267+5C>T)
c.100665+5C>T (n.100665+5C>T)
c.100662+5C>T (n.100662+5C>T)
c.97704+5C>T (n.97704+5C>T)
c.79320+5C>T (n.79320+5C>T)
c.100815+5C>T (n.100815+5C>T)
c.100812+5C>T (n.100812+5C>T)
c.100245+5C>T (n.100245+5C>T)
c.97587+5C>T (n.97587+5C>T)
c.97506+5C>T (n.97506+5C>T)
c.79269+5C>T (n.79269+5C>T)
c.69123+5C>T (n.69123+5C>T)
2g.178530236G>TCA2586970731TTN,TTN-AS1c.98670+5C>A (n.98670+5C>A)
c.79755+5C>A (n.79755+5C>A)
c.79554+5C>A (n.79554+5C>A)
c.79179+5C>A (n.79179+5C>A)
c.106374+5C>A (n.106374+5C>A)
c.101451+5C>A (n.101451+5C>A)
n.446+6600G>T
n.220-5496G>T
c.105471+5C>A (n.105471+5C>A)
c.79365+5C>A (n.79365+5C>A)
c.79224+5C>A (n.79224+5C>A)
c.105267+5C>A (n.105267+5C>A)
c.100665+5C>A (n.100665+5C>A)
c.100662+5C>A (n.100662+5C>A)
c.97704+5C>A (n.97704+5C>A)
c.79320+5C>A (n.79320+5C>A)
c.100815+5C>A (n.100815+5C>A)
c.100812+5C>A (n.100812+5C>A)
c.100245+5C>A (n.100245+5C>A)
c.97587+5C>A (n.97587+5C>A)
c.97506+5C>A (n.97506+5C>A)
c.79269+5C>A (n.79269+5C>A)
c.69123+5C>A (n.69123+5C>A)
2g.178530237T>ACA2662125548TTN,TTN-AS1c.98670+4A>T (n.98670+4A>T)
c.79755+4A>T (n.79755+4A>T)
c.79554+4A>T (n.79554+4A>T)
c.79179+4A>T (n.79179+4A>T)
c.106374+4A>T (n.106374+4A>T)
c.101451+4A>T (n.101451+4A>T)
n.446+6601T>A
n.220-5495T>A
c.105471+4A>T (n.105471+4A>T)
c.79365+4A>T (n.79365+4A>T)
c.79224+4A>T (n.79224+4A>T)
c.105267+4A>T (n.105267+4A>T)
c.100665+4A>T (n.100665+4A>T)
c.100662+4A>T (n.100662+4A>T)
c.97704+4A>T (n.97704+4A>T)
c.79320+4A>T (n.79320+4A>T)
c.100815+4A>T (n.100815+4A>T)
c.100812+4A>T (n.100812+4A>T)
c.100245+4A>T (n.100245+4A>T)
c.97587+4A>T (n.97587+4A>T)
c.97506+4A>T (n.97506+4A>T)
c.79269+4A>T (n.79269+4A>T)
c.69123+4A>T (n.69123+4A>T)
 gnomAD v4
2g.178530238T>CCA60953193TTN,TTN-AS1c.98670+3A>G (n.98670+3A>G)
c.79755+3A>G (n.79755+3A>G)
c.79554+3A>G (n.79554+3A>G)
c.79179+3A>G (n.79179+3A>G)
c.106374+3A>G (n.106374+3A>G)
c.101451+3A>G (n.101451+3A>G)
n.446+6602T>C
n.220-5494T>C
c.105471+3A>G (n.105471+3A>G)
c.79365+3A>G (n.79365+3A>G)
c.79224+3A>G (n.79224+3A>G)
c.105267+3A>G (n.105267+3A>G)
c.100665+3A>G (n.100665+3A>G)
c.100662+3A>G (n.100662+3A>G)
c.97704+3A>G (n.97704+3A>G)
c.79320+3A>G (n.79320+3A>G)
c.100815+3A>G (n.100815+3A>G)
c.100812+3A>G (n.100812+3A>G)
c.100245+3A>G (n.100245+3A>G)
c.97587+3A>G (n.97587+3A>G)
c.97506+3A>G (n.97506+3A>G)
c.79269+3A>G (n.79269+3A>G)
c.69123+3A>G (n.69123+3A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530238T=CA1310511640TTN,TTN-AS1c.98670+3A= (n.98670+3A=)
c.79755+3A= (n.79755+3A=)
c.79554+3A= (n.79554+3A=)
c.79179+3A= (n.79179+3A=)
c.106374+3A= (n.106374+3A=)
c.101451+3A= (n.101451+3A=)
n.446+6602T=
n.220-5494T=
c.105471+3A= (n.105471+3A=)
c.79365+3A= (n.79365+3A=)
c.79224+3A= (n.79224+3A=)
c.105267+3A= (n.105267+3A=)
c.100665+3A= (n.100665+3A=)
c.100662+3A= (n.100662+3A=)
c.97704+3A= (n.97704+3A=)
c.79320+3A= (n.79320+3A=)
c.100815+3A= (n.100815+3A=)
c.100812+3A= (n.100812+3A=)
c.100245+3A= (n.100245+3A=)
c.97587+3A= (n.97587+3A=)
c.97506+3A= (n.97506+3A=)
c.79269+3A= (n.79269+3A=)
c.69123+3A= (n.69123+3A=)
2g.178530239A>CCA349405704TTN,TTN-AS1c.98670+2T>G (n.98670+2T>G)
c.79755+2T>G (n.79755+2T>G)
c.79554+2T>G (n.79554+2T>G)
c.79179+2T>G (n.79179+2T>G)
c.106374+2T>G (n.106374+2T>G)
c.101451+2T>G (n.101451+2T>G)
n.446+6603A>C
n.220-5493A>C
c.105471+2T>G (n.105471+2T>G)
c.79365+2T>G (n.79365+2T>G)
c.79224+2T>G (n.79224+2T>G)
c.105267+2T>G (n.105267+2T>G)
c.100665+2T>G (n.100665+2T>G)
c.100662+2T>G (n.100662+2T>G)
c.97704+2T>G (n.97704+2T>G)
c.79320+2T>G (n.79320+2T>G)
c.100815+2T>G (n.100815+2T>G)
c.100812+2T>G (n.100812+2T>G)
c.100245+2T>G (n.100245+2T>G)
c.97587+2T>G (n.97587+2T>G)
c.97506+2T>G (n.97506+2T>G)
c.79269+2T>G (n.79269+2T>G)
c.69123+2T>G (n.69123+2T>G)
2g.178530239A>GCA349405698TTN,TTN-AS1c.98670+2T>C (n.98670+2T>C)
c.79755+2T>C (n.79755+2T>C)
c.79554+2T>C (n.79554+2T>C)
c.79179+2T>C (n.79179+2T>C)
c.106374+2T>C (n.106374+2T>C)
c.101451+2T>C (n.101451+2T>C)
n.446+6603A>G
n.220-5493A>G
c.105471+2T>C (n.105471+2T>C)
c.79365+2T>C (n.79365+2T>C)
c.79224+2T>C (n.79224+2T>C)
c.105267+2T>C (n.105267+2T>C)
c.100665+2T>C (n.100665+2T>C)
c.100662+2T>C (n.100662+2T>C)
c.97704+2T>C (n.97704+2T>C)
c.79320+2T>C (n.79320+2T>C)
c.100815+2T>C (n.100815+2T>C)
c.100812+2T>C (n.100812+2T>C)
c.100245+2T>C (n.100245+2T>C)
c.97587+2T>C (n.97587+2T>C)
c.97506+2T>C (n.97506+2T>C)
c.79269+2T>C (n.79269+2T>C)
c.69123+2T>C (n.69123+2T>C)
2g.178530239A>TCA349405701TTN,TTN-AS1c.98670+2T>A (n.98670+2T>A)
c.79755+2T>A (n.79755+2T>A)
c.79554+2T>A (n.79554+2T>A)
c.79179+2T>A (n.79179+2T>A)
c.106374+2T>A (n.106374+2T>A)
c.101451+2T>A (n.101451+2T>A)
n.446+6603A>T
n.220-5493A>T
c.105471+2T>A (n.105471+2T>A)
c.79365+2T>A (n.79365+2T>A)
c.79224+2T>A (n.79224+2T>A)
c.105267+2T>A (n.105267+2T>A)
c.100665+2T>A (n.100665+2T>A)
c.100662+2T>A (n.100662+2T>A)
c.97704+2T>A (n.97704+2T>A)
c.79320+2T>A (n.79320+2T>A)
c.100815+2T>A (n.100815+2T>A)
c.100812+2T>A (n.100812+2T>A)
c.100245+2T>A (n.100245+2T>A)
c.97587+2T>A (n.97587+2T>A)
c.97506+2T>A (n.97506+2T>A)
c.79269+2T>A (n.79269+2T>A)
c.69123+2T>A (n.69123+2T>A)
 COSMIC COSMIC COSMIC COSMIC
2g.178530239_178530240delinsACCA1310511643TTN,TTN-AS1c.98670+1_98670+2delinsGT (n.98670+1_98670+2delinsGT)
c.79755+1_79755+2delinsGT (n.79755+1_79755+2delinsGT)
c.79554+1_79554+2delinsGT (n.79554+1_79554+2delinsGT)
c.79179+1_79179+2delinsGT (n.79179+1_79179+2delinsGT)
c.106374+1_106374+2delinsGT (n.106374+1_106374+2delinsGT)
c.101451+1_101451+2delinsGT (n.101451+1_101451+2delinsGT)
n.446+6603_446+6604delinsAC
n.220-5493_220-5492delinsAC
c.105471+1_105471+2delinsGT (n.105471+1_105471+2delinsGT)
c.79365+1_79365+2delinsGT (n.79365+1_79365+2delinsGT)
c.79224+1_79224+2delinsGT (n.79224+1_79224+2delinsGT)
c.105267+1_105267+2delinsGT (n.105267+1_105267+2delinsGT)
c.100665+1_100665+2delinsGT (n.100665+1_100665+2delinsGT)
c.100662+1_100662+2delinsGT (n.100662+1_100662+2delinsGT)
c.97704+1_97704+2delinsGT (n.97704+1_97704+2delinsGT)
c.79320+1_79320+2delinsGT (n.79320+1_79320+2delinsGT)
c.100815+1_100815+2delinsGT (n.100815+1_100815+2delinsGT)
c.100812+1_100812+2delinsGT (n.100812+1_100812+2delinsGT)
c.100245+1_100245+2delinsGT (n.100245+1_100245+2delinsGT)
c.97587+1_97587+2delinsGT (n.97587+1_97587+2delinsGT)
c.97506+1_97506+2delinsGT (n.97506+1_97506+2delinsGT)
c.79269+1_79269+2delinsGT (n.79269+1_79269+2delinsGT)
c.69123+1_69123+2delinsGT (n.69123+1_69123+2delinsGT)
2g.178530240C>ACA349405709TTN,TTN-AS1c.98670+1G>T (n.98670+1G>T)
c.79755+1G>T (n.79755+1G>T)
c.79554+1G>T (n.79554+1G>T)
c.79179+1G>T (n.79179+1G>T)
c.106374+1G>T (n.106374+1G>T)
c.101451+1G>T (n.101451+1G>T)
n.446+6604C>A
n.220-5492C>A
c.105471+1G>T (n.105471+1G>T)
c.79365+1G>T (n.79365+1G>T)
c.79224+1G>T (n.79224+1G>T)
c.105267+1G>T (n.105267+1G>T)
c.100665+1G>T (n.100665+1G>T)
c.100662+1G>T (n.100662+1G>T)
c.97704+1G>T (n.97704+1G>T)
c.79320+1G>T (n.79320+1G>T)
c.100815+1G>T (n.100815+1G>T)
c.100812+1G>T (n.100812+1G>T)
c.100245+1G>T (n.100245+1G>T)
c.97587+1G>T (n.97587+1G>T)
c.97506+1G>T (n.97506+1G>T)
c.79269+1G>T (n.79269+1G>T)
c.69123+1G>T (n.69123+1G>T)
 gnomAD v4
2g.178530240C>GCA349405713TTN,TTN-AS1c.98670+1G>C (n.98670+1G>C)
c.79755+1G>C (n.79755+1G>C)
c.79554+1G>C (n.79554+1G>C)
c.79179+1G>C (n.79179+1G>C)
c.106374+1G>C (n.106374+1G>C)
c.101451+1G>C (n.101451+1G>C)
n.446+6604C>G
n.220-5492C>G
c.105471+1G>C (n.105471+1G>C)
c.79365+1G>C (n.79365+1G>C)
c.79224+1G>C (n.79224+1G>C)
c.105267+1G>C (n.105267+1G>C)
c.100665+1G>C (n.100665+1G>C)
c.100662+1G>C (n.100662+1G>C)
c.97704+1G>C (n.97704+1G>C)
c.79320+1G>C (n.79320+1G>C)
c.100815+1G>C (n.100815+1G>C)
c.100812+1G>C (n.100812+1G>C)
c.100245+1G>C (n.100245+1G>C)
c.97587+1G>C (n.97587+1G>C)
c.97506+1G>C (n.97506+1G>C)
c.79269+1G>C (n.79269+1G>C)
c.69123+1G>C (n.69123+1G>C)
2g.178530240C>TCA349405717TTN,TTN-AS1c.98670+1G>A (n.98670+1G>A)
c.79755+1G>A (n.79755+1G>A)
c.79554+1G>A (n.79554+1G>A)
c.79179+1G>A (n.79179+1G>A)
c.106374+1G>A (n.106374+1G>A)
c.101451+1G>A (n.101451+1G>A)
n.446+6604C>T
n.220-5492C>T
c.105471+1G>A (n.105471+1G>A)
c.79365+1G>A (n.79365+1G>A)
c.79224+1G>A (n.79224+1G>A)
c.105267+1G>A (n.105267+1G>A)
c.100665+1G>A (n.100665+1G>A)
c.100662+1G>A (n.100662+1G>A)
c.97704+1G>A (n.97704+1G>A)
c.79320+1G>A (n.79320+1G>A)
c.100815+1G>A (n.100815+1G>A)
c.100812+1G>A (n.100812+1G>A)
c.100245+1G>A (n.100245+1G>A)
c.97587+1G>A (n.97587+1G>A)
c.97506+1G>A (n.97506+1G>A)
c.79269+1G>A (n.79269+1G>A)
c.69123+1G>A (n.69123+1G>A)
2g.178530241delCA090791TTN,TTN-AS1c.98670+1del
c.79755+1del
c.79554+1del
c.79179+1del
c.106374+1del
c.101451+1del
n.446+6605del
n.220-5491del
c.105471+1del
c.79365+1del
c.79224+1del
c.105267+1del
c.100665+1del
c.100662+1del
c.97704+1del
c.79320+1del
c.100815+1del
c.100812+1del
c.100245+1del
c.97587+1del
c.97506+1del
c.79269+1del
c.69123+1del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530241C>ACA349405722TTN,TTN-AS1c.98670G>T (p.Lys32890Asn)
c.79755G>T (p.Lys26585Asn)
c.79554G>T (p.Lys26518Asn)
c.79179G>T (p.Lys26393Asn)
c.106374G>T (p.Lys35458Asn)
c.101451G>T (p.Lys33817Asn)
n.446+6605C>A
n.220-5491C>A
c.105471G>T (p.Lys35157Asn)
c.79365G>T (p.Lys26455Asn)
c.79224G>T (p.Lys26408Asn)
c.105267G>T (p.Lys35089Asn)
c.100665G>T (p.Lys33555Asn)
c.100662G>T (p.Lys33554Asn)
c.97704G>T (p.Lys32568Asn)
c.79320G>T (p.Lys26440Asn)
c.100815G>T (p.Lys33605Asn)
c.100812G>T (p.Lys33604Asn)
c.100245G>T (p.Lys33415Asn)
c.97587G>T (p.Lys32529Asn)
c.97506G>T (p.Lys32502Asn)
c.79269G>T (p.Lys26423Asn)
c.69123G>T (p.Lys23041Asn)
2g.178530241C>GCA349405729TTN,TTN-AS1c.98670G>C (p.Lys32890Asn)
c.79755G>C (p.Lys26585Asn)
c.79554G>C (p.Lys26518Asn)
c.79179G>C (p.Lys26393Asn)
c.106374G>C (p.Lys35458Asn)
c.101451G>C (p.Lys33817Asn)
n.446+6605C>G
n.220-5491C>G
c.105471G>C (p.Lys35157Asn)
c.79365G>C (p.Lys26455Asn)
c.79224G>C (p.Lys26408Asn)
c.105267G>C (p.Lys35089Asn)
c.100665G>C (p.Lys33555Asn)
c.100662G>C (p.Lys33554Asn)
c.97704G>C (p.Lys32568Asn)
c.79320G>C (p.Lys26440Asn)
c.100815G>C (p.Lys33605Asn)
c.100812G>C (p.Lys33604Asn)
c.100245G>C (p.Lys33415Asn)
c.97587G>C (p.Lys32529Asn)
c.97506G>C (p.Lys32502Asn)
c.79269G>C (p.Lys26423Asn)
c.69123G>C (p.Lys23041Asn)
2g.178530241C>TCA430234991TTN,TTN-AS1c.98670G>A (p.Lys32890=)
c.79755G>A (p.Lys26585=)
c.79554G>A (p.Lys26518=)
c.79179G>A (p.Lys26393=)
c.106374G>A (p.Lys35458=)
c.101451G>A (p.Lys33817=)
n.446+6605C>T
n.220-5491C>T
c.105471G>A (p.Lys35157=)
c.79365G>A (p.Lys26455=)
c.79224G>A (p.Lys26408=)
c.105267G>A (p.Lys35089=)
c.100665G>A (p.Lys33555=)
c.100662G>A (p.Lys33554=)
c.97704G>A (p.Lys32568=)
c.79320G>A (p.Lys26440=)
c.100815G>A (p.Lys33605=)
c.100812G>A (p.Lys33604=)
c.100245G>A (p.Lys33415=)
c.97587G>A (p.Lys32529=)
c.97506G>A (p.Lys32502=)
c.79269G>A (p.Lys26423=)
c.69123G>A (p.Lys23041=)
 ClinVar dbSNP
2g.178530242T>ACA349405731TTN,TTN-AS1c.98669A>T (p.Lys32890Met)
c.79754A>T (p.Lys26585Met)
c.79553A>T (p.Lys26518Met)
c.79178A>T (p.Lys26393Met)
c.106373A>T (p.Lys35458Met)
c.101450A>T (p.Lys33817Met)
n.446+6606T>A
n.220-5490T>A
c.105470A>T (p.Lys35157Met)
c.79364A>T (p.Lys26455Met)
c.79223A>T (p.Lys26408Met)
c.105266A>T (p.Lys35089Met)
c.100664A>T (p.Lys33555Met)
c.100661A>T (p.Lys33554Met)
c.97703A>T (p.Lys32568Met)
c.79319A>T (p.Lys26440Met)
c.100814A>T (p.Lys33605Met)
c.100811A>T (p.Lys33604Met)
c.100244A>T (p.Lys33415Met)
c.97586A>T (p.Lys32529Met)
c.97505A>T (p.Lys32502Met)
c.79268A>T (p.Lys26423Met)
c.69122A>T (p.Lys23041Met)
2g.178530242T>CCA349405734TTN,TTN-AS1c.98669A>G (p.Lys32890Arg)
c.79754A>G (p.Lys26585Arg)
c.79553A>G (p.Lys26518Arg)
c.79178A>G (p.Lys26393Arg)
c.106373A>G (p.Lys35458Arg)
c.101450A>G (p.Lys33817Arg)
n.446+6606T>C
n.220-5490T>C
c.105470A>G (p.Lys35157Arg)
c.79364A>G (p.Lys26455Arg)
c.79223A>G (p.Lys26408Arg)
c.105266A>G (p.Lys35089Arg)
c.100664A>G (p.Lys33555Arg)
c.100661A>G (p.Lys33554Arg)
c.97703A>G (p.Lys32568Arg)
c.79319A>G (p.Lys26440Arg)
c.100814A>G (p.Lys33605Arg)
c.100811A>G (p.Lys33604Arg)
c.100244A>G (p.Lys33415Arg)
c.97586A>G (p.Lys32529Arg)
c.97505A>G (p.Lys32502Arg)
c.79268A>G (p.Lys26423Arg)
c.69122A>G (p.Lys23041Arg)
 dbSNP
2g.178530242T>GCA349405737TTN,TTN-AS1c.98669A>C (p.Lys32890Thr)
c.79754A>C (p.Lys26585Thr)
c.79553A>C (p.Lys26518Thr)
c.79178A>C (p.Lys26393Thr)
c.106373A>C (p.Lys35458Thr)
c.101450A>C (p.Lys33817Thr)
n.446+6606T>G
n.220-5490T>G
c.105470A>C (p.Lys35157Thr)
c.79364A>C (p.Lys26455Thr)
c.79223A>C (p.Lys26408Thr)
c.105266A>C (p.Lys35089Thr)
c.100664A>C (p.Lys33555Thr)
c.100661A>C (p.Lys33554Thr)
c.97703A>C (p.Lys32568Thr)
c.79319A>C (p.Lys26440Thr)
c.100814A>C (p.Lys33605Thr)
c.100811A>C (p.Lys33604Thr)
c.100244A>C (p.Lys33415Thr)
c.97586A>C (p.Lys32529Thr)
c.97505A>C (p.Lys32502Thr)
c.79268A>C (p.Lys26423Thr)
c.69122A>C (p.Lys23041Thr)
 gnomAD v4
2g.178530242T=CA1310511652TTN,TTN-AS1c.98669A= (p.Lys32890=)
c.79754A= (p.Lys26585=)
c.79553A= (p.Lys26518=)
c.79178A= (p.Lys26393=)
c.106373A= (p.Lys35458=)
c.101450A= (p.Lys33817=)
n.446+6606T=
n.220-5490T=
c.105470A= (p.Lys35157=)
c.79364A= (p.Lys26455=)
c.79223A= (p.Lys26408=)
c.105266A= (p.Lys35089=)
c.100664A= (p.Lys33555=)
c.100661A= (p.Lys33554=)
c.97703A= (p.Lys32568=)
c.79319A= (p.Lys26440=)
c.100814A= (p.Lys33605=)
c.100811A= (p.Lys33604=)
c.100244A= (p.Lys33415=)
c.97586A= (p.Lys32529=)
c.97505A= (p.Lys32502=)
c.79268A= (p.Lys26423=)
c.69122A= (p.Lys23041=)
2g.178530243T>ACA349405747TTN,TTN-AS1c.98668A>T (p.Lys32890Ter)
c.79753A>T (p.Lys26585Ter)
c.79552A>T (p.Lys26518Ter)
c.79177A>T (p.Lys26393Ter)
c.106372A>T (p.Lys35458Ter)
c.101449A>T (p.Lys33817Ter)
n.446+6607T>A
n.220-5489T>A
c.105469A>T (p.Lys35157Ter)
c.79363A>T (p.Lys26455Ter)
c.79222A>T (p.Lys26408Ter)
c.105265A>T (p.Lys35089Ter)
c.100663A>T (p.Lys33555Ter)
c.100660A>T (p.Lys33554Ter)
c.97702A>T (p.Lys32568Ter)
c.79318A>T (p.Lys26440Ter)
c.100813A>T (p.Lys33605Ter)
c.100810A>T (p.Lys33604Ter)
c.100243A>T (p.Lys33415Ter)
c.97585A>T (p.Lys32529Ter)
c.97504A>T (p.Lys32502Ter)
c.79267A>T (p.Lys26423Ter)
c.69121A>T (p.Lys23041Ter)
2g.178530243T>CCA349405749TTN,TTN-AS1c.98668A>G (p.Lys32890Glu)
c.79753A>G (p.Lys26585Glu)
c.79552A>G (p.Lys26518Glu)
c.79177A>G (p.Lys26393Glu)
c.106372A>G (p.Lys35458Glu)
c.101449A>G (p.Lys33817Glu)
n.446+6607T>C
n.220-5489T>C
c.105469A>G (p.Lys35157Glu)
c.79363A>G (p.Lys26455Glu)
c.79222A>G (p.Lys26408Glu)
c.105265A>G (p.Lys35089Glu)
c.100663A>G (p.Lys33555Glu)
c.100660A>G (p.Lys33554Glu)
c.97702A>G (p.Lys32568Glu)
c.79318A>G (p.Lys26440Glu)
c.100813A>G (p.Lys33605Glu)
c.100810A>G (p.Lys33604Glu)
c.100243A>G (p.Lys33415Glu)
c.97585A>G (p.Lys32529Glu)
c.97504A>G (p.Lys32502Glu)
c.79267A>G (p.Lys26423Glu)
c.69121A>G (p.Lys23041Glu)
 ClinVar gnomAD v4
2g.178530243T>GCA349405753TTN,TTN-AS1c.98668A>C (p.Lys32890Gln)
c.79753A>C (p.Lys26585Gln)
c.79552A>C (p.Lys26518Gln)
c.79177A>C (p.Lys26393Gln)
c.106372A>C (p.Lys35458Gln)
c.101449A>C (p.Lys33817Gln)
n.446+6607T>G
n.220-5489T>G
c.105469A>C (p.Lys35157Gln)
c.79363A>C (p.Lys26455Gln)
c.79222A>C (p.Lys26408Gln)
c.105265A>C (p.Lys35089Gln)
c.100663A>C (p.Lys33555Gln)
c.100660A>C (p.Lys33554Gln)
c.97702A>C (p.Lys32568Gln)
c.79318A>C (p.Lys26440Gln)
c.100813A>C (p.Lys33605Gln)
c.100810A>C (p.Lys33604Gln)
c.100243A>C (p.Lys33415Gln)
c.97585A>C (p.Lys32529Gln)
c.97504A>C (p.Lys32502Gln)
c.79267A>C (p.Lys26423Gln)
c.69121A>C (p.Lys23041Gln)
2g.178530244T>ACA430234993TTN,TTN-AS1c.98667A>T (p.Gly32889=)
c.79752A>T (p.Gly26584=)
c.79551A>T (p.Gly26517=)
c.79176A>T (p.Gly26392=)
c.106371A>T (p.Gly35457=)
c.101448A>T (p.Gly33816=)
n.446+6608T>A
n.220-5488T>A
c.105468A>T (p.Gly35156=)
c.79362A>T (p.Gly26454=)
c.79221A>T (p.Gly26407=)
c.105264A>T (p.Gly35088=)
c.100662A>T (p.Gly33554=)
c.100659A>T (p.Gly33553=)
c.97701A>T (p.Gly32567=)
c.79317A>T (p.Gly26439=)
c.100812A>T (p.Gly33604=)
c.100809A>T (p.Gly33603=)
c.100242A>T (p.Gly33414=)
c.97584A>T (p.Gly32528=)
c.97503A>T (p.Gly32501=)
c.79266A>T (p.Gly26422=)
c.69120A>T (p.Gly23040=)
2g.178530244T>CCA430234995TTN,TTN-AS1c.98667A>G (p.Gly32889=)
c.79752A>G (p.Gly26584=)
c.79551A>G (p.Gly26517=)
c.79176A>G (p.Gly26392=)
c.106371A>G (p.Gly35457=)
c.101448A>G (p.Gly33816=)
n.446+6608T>C
n.220-5488T>C
c.105468A>G (p.Gly35156=)
c.79362A>G (p.Gly26454=)
c.79221A>G (p.Gly26407=)
c.105264A>G (p.Gly35088=)
c.100662A>G (p.Gly33554=)
c.100659A>G (p.Gly33553=)
c.97701A>G (p.Gly32567=)
c.79317A>G (p.Gly26439=)
c.100812A>G (p.Gly33604=)
c.100809A>G (p.Gly33603=)
c.100242A>G (p.Gly33414=)
c.97584A>G (p.Gly32528=)
c.97503A>G (p.Gly32501=)
c.79266A>G (p.Gly26422=)
c.69120A>G (p.Gly23040=)
2g.178530244T>GCA430234996TTN,TTN-AS1c.98667A>C (p.Gly32889=)
c.79752A>C (p.Gly26584=)
c.79551A>C (p.Gly26517=)
c.79176A>C (p.Gly26392=)
c.106371A>C (p.Gly35457=)
c.101448A>C (p.Gly33816=)
n.446+6608T>G
n.220-5488T>G
c.105468A>C (p.Gly35156=)
c.79362A>C (p.Gly26454=)
c.79221A>C (p.Gly26407=)
c.105264A>C (p.Gly35088=)
c.100662A>C (p.Gly33554=)
c.100659A>C (p.Gly33553=)
c.97701A>C (p.Gly32567=)
c.79317A>C (p.Gly26439=)
c.100812A>C (p.Gly33604=)
c.100809A>C (p.Gly33603=)
c.100242A>C (p.Gly33414=)
c.97584A>C (p.Gly32528=)
c.97503A>C (p.Gly32501=)
c.79266A>C (p.Gly26422=)
c.69120A>C (p.Gly23040=)
2g.178530245C>ACA349405762TTN,TTN-AS1c.98666G>T (p.Gly32889Val)
c.79751G>T (p.Gly26584Val)
c.79550G>T (p.Gly26517Val)
c.79175G>T (p.Gly26392Val)
c.106370G>T (p.Gly35457Val)
c.101447G>T (p.Gly33816Val)
n.446+6609C>A
n.220-5487C>A
c.105467G>T (p.Gly35156Val)
c.79361G>T (p.Gly26454Val)
c.79220G>T (p.Gly26407Val)
c.105263G>T (p.Gly35088Val)
c.100661G>T (p.Gly33554Val)
c.100658G>T (p.Gly33553Val)
c.97700G>T (p.Gly32567Val)
c.79316G>T (p.Gly26439Val)
c.100811G>T (p.Gly33604Val)
c.100808G>T (p.Gly33603Val)
c.100241G>T (p.Gly33414Val)
c.97583G>T (p.Gly32528Val)
c.97502G>T (p.Gly32501Val)
c.79265G>T (p.Gly26422Val)
c.69119G>T (p.Gly23040Val)
 gnomAD v4
2g.178530245C=CA1310511654TTN,TTN-AS1c.98666G= (p.Gly32889=)
c.79751G= (p.Gly26584=)
c.79550G= (p.Gly26517=)
c.79175G= (p.Gly26392=)
c.106370G= (p.Gly35457=)
c.101447G= (p.Gly33816=)
n.446+6609C=
n.220-5487C=
c.105467G= (p.Gly35156=)
c.79361G= (p.Gly26454=)
c.79220G= (p.Gly26407=)
c.105263G= (p.Gly35088=)
c.100661G= (p.Gly33554=)
c.100658G= (p.Gly33553=)
c.97700G= (p.Gly32567=)
c.79316G= (p.Gly26439=)
c.100811G= (p.Gly33604=)
c.100808G= (p.Gly33603=)
c.100241G= (p.Gly33414=)
c.97583G= (p.Gly32528=)
c.97502G= (p.Gly32501=)
c.79265G= (p.Gly26422=)
c.69119G= (p.Gly23040=)
2g.178530245C>GCA349405764TTN,TTN-AS1c.98666G>C (p.Gly32889Ala)
c.79751G>C (p.Gly26584Ala)
c.79550G>C (p.Gly26517Ala)
c.79175G>C (p.Gly26392Ala)
c.106370G>C (p.Gly35457Ala)
c.101447G>C (p.Gly33816Ala)
n.446+6609C>G
n.220-5487C>G
c.105467G>C (p.Gly35156Ala)
c.79361G>C (p.Gly26454Ala)
c.79220G>C (p.Gly26407Ala)
c.105263G>C (p.Gly35088Ala)
c.100661G>C (p.Gly33554Ala)
c.100658G>C (p.Gly33553Ala)
c.97700G>C (p.Gly32567Ala)
c.79316G>C (p.Gly26439Ala)
c.100811G>C (p.Gly33604Ala)
c.100808G>C (p.Gly33603Ala)
c.100241G>C (p.Gly33414Ala)
c.97583G>C (p.Gly32528Ala)
c.97502G>C (p.Gly32501Ala)
c.79265G>C (p.Gly26422Ala)
c.69119G>C (p.Gly23040Ala)
2g.178530245C>TCA349405760TTN,TTN-AS1c.98666G>A (p.Gly32889Glu)
c.79751G>A (p.Gly26584Glu)
c.79550G>A (p.Gly26517Glu)
c.79175G>A (p.Gly26392Glu)
c.106370G>A (p.Gly35457Glu)
c.101447G>A (p.Gly33816Glu)
n.446+6609C>T
n.220-5487C>T
c.105467G>A (p.Gly35156Glu)
c.79361G>A (p.Gly26454Glu)
c.79220G>A (p.Gly26407Glu)
c.105263G>A (p.Gly35088Glu)
c.100661G>A (p.Gly33554Glu)
c.100658G>A (p.Gly33553Glu)
c.97700G>A (p.Gly32567Glu)
c.79316G>A (p.Gly26439Glu)
c.100811G>A (p.Gly33604Glu)
c.100808G>A (p.Gly33603Glu)
c.100241G>A (p.Gly33414Glu)
c.97583G>A (p.Gly32528Glu)
c.97502G>A (p.Gly32501Glu)
c.79265G>A (p.Gly26422Glu)
c.69119G>A (p.Gly23040Glu)
2g.178530246C>ACA349405765TTN,TTN-AS1c.98665G>T (p.Gly32889Ter)
c.79750G>T (p.Gly26584Ter)
c.79549G>T (p.Gly26517Ter)
c.79174G>T (p.Gly26392Ter)
c.106369G>T (p.Gly35457Ter)
c.101446G>T (p.Gly33816Ter)
n.446+6610C>A
n.220-5486C>A
c.105466G>T (p.Gly35156Ter)
c.79360G>T (p.Gly26454Ter)
c.79219G>T (p.Gly26407Ter)
c.105262G>T (p.Gly35088Ter)
c.100660G>T (p.Gly33554Ter)
c.100657G>T (p.Gly33553Ter)
c.97699G>T (p.Gly32567Ter)
c.79315G>T (p.Gly26439Ter)
c.100810G>T (p.Gly33604Ter)
c.100807G>T (p.Gly33603Ter)
c.100240G>T (p.Gly33414Ter)
c.97582G>T (p.Gly32528Ter)
c.97501G>T (p.Gly32501Ter)
c.79264G>T (p.Gly26422Ter)
c.69118G>T (p.Gly23040Ter)
2g.178530246C>GCA349405767TTN,TTN-AS1c.98665G>C (p.Gly32889Arg)
c.79750G>C (p.Gly26584Arg)
c.79549G>C (p.Gly26517Arg)
c.79174G>C (p.Gly26392Arg)
c.106369G>C (p.Gly35457Arg)
c.101446G>C (p.Gly33816Arg)
n.446+6610C>G
n.220-5486C>G
c.105466G>C (p.Gly35156Arg)
c.79360G>C (p.Gly26454Arg)
c.79219G>C (p.Gly26407Arg)
c.105262G>C (p.Gly35088Arg)
c.100660G>C (p.Gly33554Arg)
c.100657G>C (p.Gly33553Arg)
c.97699G>C (p.Gly32567Arg)
c.79315G>C (p.Gly26439Arg)
c.100810G>C (p.Gly33604Arg)
c.100807G>C (p.Gly33603Arg)
c.100240G>C (p.Gly33414Arg)
c.97582G>C (p.Gly32528Arg)
c.97501G>C (p.Gly32501Arg)
c.79264G>C (p.Gly26422Arg)
c.69118G>C (p.Gly23040Arg)
2g.178530246C>TCA349405774TTN,TTN-AS1c.98665G>A (p.Gly32889Arg)
c.79750G>A (p.Gly26584Arg)
c.79549G>A (p.Gly26517Arg)
c.79174G>A (p.Gly26392Arg)
c.106369G>A (p.Gly35457Arg)
c.101446G>A (p.Gly33816Arg)
n.446+6610C>T
n.220-5486C>T
c.105466G>A (p.Gly35156Arg)
c.79360G>A (p.Gly26454Arg)
c.79219G>A (p.Gly26407Arg)
c.105262G>A (p.Gly35088Arg)
c.100660G>A (p.Gly33554Arg)
c.100657G>A (p.Gly33553Arg)
c.97699G>A (p.Gly32567Arg)
c.79315G>A (p.Gly26439Arg)
c.100810G>A (p.Gly33604Arg)
c.100807G>A (p.Gly33603Arg)
c.100240G>A (p.Gly33414Arg)
c.97582G>A (p.Gly32528Arg)
c.97501G>A (p.Gly32501Arg)
c.79264G>A (p.Gly26422Arg)
c.69118G>A (p.Gly23040Arg)
2g.178530247_178530249dupCA1985123TTN,TTN-AS1c.98663_98665dup (p.Asp32888_Gly32889insAsp)
c.79748_79750dup (p.Asp26583_Gly26584insAsp)
c.79547_79549dup (p.Asp26516_Gly26517insAsp)
c.79172_79174dup (p.Asp26391_Gly26392insAsp)
c.106367_106369dup (p.Asp35456_Gly35457insAsp)
c.101444_101446dup (p.Asp33815_Gly33816insAsp)
n.446+6611_446+6613dup
n.220-5485_220-5483dup
c.105464_105466dup (p.Asp35155_Gly35156insAsp)
c.79358_79360dup (p.Asp26453_Gly26454insAsp)
c.79217_79219dup (p.Asp26406_Gly26407insAsp)
c.105260_105262dup (p.Asp35087_Gly35088insAsp)
c.100658_100660dup (p.Asp33553_Gly33554insAsp)
c.100655_100657dup (p.Asp33552_Gly33553insAsp)
c.97697_97699dup (p.Asp32566_Gly32567insAsp)
c.79313_79315dup (p.Asp26438_Gly26439insAsp)
c.100808_100810dup (p.Asp33603_Gly33604insAsp)
c.100805_100807dup (p.Asp33602_Gly33603insAsp)
c.100238_100240dup (p.Asp33413_Gly33414insAsp)
c.97580_97582dup (p.Asp32527_Gly32528insAsp)
c.97499_97501dup (p.Asp32500_Gly32501insAsp)
c.79262_79264dup (p.Asp26421_Gly26422insAsp)
c.69116_69118dup (p.Asp23039_Gly23040insAsp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530247A>CCA349405781TTN,TTN-AS1c.98664T>G (p.Asp32888Glu)
c.79749T>G (p.Asp26583Glu)
c.79548T>G (p.Asp26516Glu)
c.79173T>G (p.Asp26391Glu)
c.106368T>G (p.Asp35456Glu)
c.101445T>G (p.Asp33815Glu)
n.446+6611A>C
n.220-5485A>C
c.105465T>G (p.Asp35155Glu)
c.79359T>G (p.Asp26453Glu)
c.79218T>G (p.Asp26406Glu)
c.105261T>G (p.Asp35087Glu)
c.100659T>G (p.Asp33553Glu)
c.100656T>G (p.Asp33552Glu)
c.97698T>G (p.Asp32566Glu)
c.79314T>G (p.Asp26438Glu)
c.100809T>G (p.Asp33603Glu)
c.100806T>G (p.Asp33602Glu)
c.100239T>G (p.Asp33413Glu)
c.97581T>G (p.Asp32527Glu)
c.97500T>G (p.Asp32500Glu)
c.79263T>G (p.Asp26421Glu)
c.69117T>G (p.Asp23039Glu)
2g.178530247A>GCA430235005TTN,TTN-AS1c.98664T>C (p.Asp32888=)
c.79749T>C (p.Asp26583=)
c.79548T>C (p.Asp26516=)
c.79173T>C (p.Asp26391=)
c.106368T>C (p.Asp35456=)
c.101445T>C (p.Asp33815=)
n.446+6611A>G
n.220-5485A>G
c.105465T>C (p.Asp35155=)
c.79359T>C (p.Asp26453=)
c.79218T>C (p.Asp26406=)
c.105261T>C (p.Asp35087=)
c.100659T>C (p.Asp33553=)
c.100656T>C (p.Asp33552=)
c.97698T>C (p.Asp32566=)
c.79314T>C (p.Asp26438=)
c.100809T>C (p.Asp33603=)
c.100806T>C (p.Asp33602=)
c.100239T>C (p.Asp33413=)
c.97581T>C (p.Asp32527=)
c.97500T>C (p.Asp32500=)
c.79263T>C (p.Asp26421=)
c.69117T>C (p.Asp23039=)
2g.178530247A>TCA349405784TTN,TTN-AS1c.98664T>A (p.Asp32888Glu)
c.79749T>A (p.Asp26583Glu)
c.79548T>A (p.Asp26516Glu)
c.79173T>A (p.Asp26391Glu)
c.106368T>A (p.Asp35456Glu)
c.101445T>A (p.Asp33815Glu)
n.446+6611A>T
n.220-5485A>T
c.105465T>A (p.Asp35155Glu)
c.79359T>A (p.Asp26453Glu)
c.79218T>A (p.Asp26406Glu)
c.105261T>A (p.Asp35087Glu)
c.100659T>A (p.Asp33553Glu)
c.100656T>A (p.Asp33552Glu)
c.97698T>A (p.Asp32566Glu)
c.79314T>A (p.Asp26438Glu)
c.100809T>A (p.Asp33603Glu)
c.100806T>A (p.Asp33602Glu)
c.100239T>A (p.Asp33413Glu)
c.97581T>A (p.Asp32527Glu)
c.97500T>A (p.Asp32500Glu)
c.79263T>A (p.Asp26421Glu)
c.69117T>A (p.Asp23039Glu)
2g.178530248T>ACA349405798TTN,TTN-AS1c.98663A>T (p.Asp32888Val)
c.79748A>T (p.Asp26583Val)
c.79547A>T (p.Asp26516Val)
c.79172A>T (p.Asp26391Val)
c.106367A>T (p.Asp35456Val)
c.101444A>T (p.Asp33815Val)
n.446+6612T>A
n.220-5484T>A
c.105464A>T (p.Asp35155Val)
c.79358A>T (p.Asp26453Val)
c.79217A>T (p.Asp26406Val)
c.105260A>T (p.Asp35087Val)
c.100658A>T (p.Asp33553Val)
c.100655A>T (p.Asp33552Val)
c.97697A>T (p.Asp32566Val)
c.79313A>T (p.Asp26438Val)
c.100808A>T (p.Asp33603Val)
c.100805A>T (p.Asp33602Val)
c.100238A>T (p.Asp33413Val)
c.97580A>T (p.Asp32527Val)
c.97499A>T (p.Asp32500Val)
c.79262A>T (p.Asp26421Val)
c.69116A>T (p.Asp23039Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178530248T>CCA349405801TTN,TTN-AS1c.98663A>G (p.Asp32888Gly)
c.79748A>G (p.Asp26583Gly)
c.79547A>G (p.Asp26516Gly)
c.79172A>G (p.Asp26391Gly)
c.106367A>G (p.Asp35456Gly)
c.101444A>G (p.Asp33815Gly)
n.446+6612T>C
n.220-5484T>C
c.105464A>G (p.Asp35155Gly)
c.79358A>G (p.Asp26453Gly)
c.79217A>G (p.Asp26406Gly)
c.105260A>G (p.Asp35087Gly)
c.100658A>G (p.Asp33553Gly)
c.100655A>G (p.Asp33552Gly)
c.97697A>G (p.Asp32566Gly)
c.79313A>G (p.Asp26438Gly)
c.100808A>G (p.Asp33603Gly)
c.100805A>G (p.Asp33602Gly)
c.100238A>G (p.Asp33413Gly)
c.97580A>G (p.Asp32527Gly)
c.97499A>G (p.Asp32500Gly)
c.79262A>G (p.Asp26421Gly)
c.69116A>G (p.Asp23039Gly)
2g.178530248T>GCA349405806TTN,TTN-AS1c.98663A>C (p.Asp32888Ala)
c.79748A>C (p.Asp26583Ala)
c.79547A>C (p.Asp26516Ala)
c.79172A>C (p.Asp26391Ala)
c.106367A>C (p.Asp35456Ala)
c.101444A>C (p.Asp33815Ala)
n.446+6612T>G
n.220-5484T>G
c.105464A>C (p.Asp35155Ala)
c.79358A>C (p.Asp26453Ala)
c.79217A>C (p.Asp26406Ala)
c.105260A>C (p.Asp35087Ala)
c.100658A>C (p.Asp33553Ala)
c.100655A>C (p.Asp33552Ala)
c.97697A>C (p.Asp32566Ala)
c.79313A>C (p.Asp26438Ala)
c.100808A>C (p.Asp33603Ala)
c.100805A>C (p.Asp33602Ala)
c.100238A>C (p.Asp33413Ala)
c.97580A>C (p.Asp32527Ala)
c.97499A>C (p.Asp32500Ala)
c.79262A>C (p.Asp26421Ala)
c.69116A>C (p.Asp23039Ala)
2g.178530248T=CA1310511662TTN,TTN-AS1c.98663A= (p.Asp32888=)
c.79748A= (p.Asp26583=)
c.79547A= (p.Asp26516=)
c.79172A= (p.Asp26391=)
c.106367A= (p.Asp35456=)
c.101444A= (p.Asp33815=)
n.446+6612T=
n.220-5484T=
c.105464A= (p.Asp35155=)
c.79358A= (p.Asp26453=)
c.79217A= (p.Asp26406=)
c.105260A= (p.Asp35087=)
c.100658A= (p.Asp33553=)
c.100655A= (p.Asp33552=)
c.97697A= (p.Asp32566=)
c.79313A= (p.Asp26438=)
c.100808A= (p.Asp33603=)
c.100805A= (p.Asp33602=)
c.100238A= (p.Asp33413=)
c.97580A= (p.Asp32527=)
c.97499A= (p.Asp32500=)
c.79262A= (p.Asp26421=)
c.69116A= (p.Asp23039=)
2g.178530249C>ACA349405809TTN,TTN-AS1c.98662G>T (p.Asp32888Tyr)
c.79747G>T (p.Asp26583Tyr)
c.79546G>T (p.Asp26516Tyr)
c.79171G>T (p.Asp26391Tyr)
c.106366G>T (p.Asp35456Tyr)
c.101443G>T (p.Asp33815Tyr)
n.446+6613C>A
n.220-5483C>A
c.105463G>T (p.Asp35155Tyr)
c.79357G>T (p.Asp26453Tyr)
c.79216G>T (p.Asp26406Tyr)
c.105259G>T (p.Asp35087Tyr)
c.100657G>T (p.Asp33553Tyr)
c.100654G>T (p.Asp33552Tyr)
c.97696G>T (p.Asp32566Tyr)
c.79312G>T (p.Asp26438Tyr)
c.100807G>T (p.Asp33603Tyr)
c.100804G>T (p.Asp33602Tyr)
c.100237G>T (p.Asp33413Tyr)
c.97579G>T (p.Asp32527Tyr)
c.97498G>T (p.Asp32500Tyr)
c.79261G>T (p.Asp26421Tyr)
c.69115G>T (p.Asp23039Tyr)
2g.178530249C>GCA349405813TTN,TTN-AS1c.98662G>C (p.Asp32888His)
c.79747G>C (p.Asp26583His)
c.79546G>C (p.Asp26516His)
c.79171G>C (p.Asp26391His)
c.106366G>C (p.Asp35456His)
c.101443G>C (p.Asp33815His)
n.446+6613C>G
n.220-5483C>G
c.105463G>C (p.Asp35155His)
c.79357G>C (p.Asp26453His)
c.79216G>C (p.Asp26406His)
c.105259G>C (p.Asp35087His)
c.100657G>C (p.Asp33553His)
c.100654G>C (p.Asp33552His)
c.97696G>C (p.Asp32566His)
c.79312G>C (p.Asp26438His)
c.100807G>C (p.Asp33603His)
c.100804G>C (p.Asp33602His)
c.100237G>C (p.Asp33413His)
c.97579G>C (p.Asp32527His)
c.97498G>C (p.Asp32500His)
c.79261G>C (p.Asp26421His)
c.69115G>C (p.Asp23039His)
2g.178530249C>TCA349405818TTN,TTN-AS1c.98662G>A (p.Asp32888Asn)
c.79747G>A (p.Asp26583Asn)
c.79546G>A (p.Asp26516Asn)
c.79171G>A (p.Asp26391Asn)
c.106366G>A (p.Asp35456Asn)
c.101443G>A (p.Asp33815Asn)
n.446+6613C>T
n.220-5483C>T
c.105463G>A (p.Asp35155Asn)
c.79357G>A (p.Asp26453Asn)
c.79216G>A (p.Asp26406Asn)
c.105259G>A (p.Asp35087Asn)
c.100657G>A (p.Asp33553Asn)
c.100654G>A (p.Asp33552Asn)
c.97696G>A (p.Asp32566Asn)
c.79312G>A (p.Asp26438Asn)
c.100807G>A (p.Asp33603Asn)
c.100804G>A (p.Asp33602Asn)
c.100237G>A (p.Asp33413Asn)
c.97579G>A (p.Asp32527Asn)
c.97498G>A (p.Asp32500Asn)
c.79261G>A (p.Asp26421Asn)
c.69115G>A (p.Asp23039Asn)
2g.178530250T>ACA349405820TTN,TTN-AS1c.98661A>T (p.Lys32887Asn)
c.79746A>T (p.Lys26582Asn)
c.79545A>T (p.Lys26515Asn)
c.79170A>T (p.Lys26390Asn)
c.106365A>T (p.Lys35455Asn)
c.101442A>T (p.Lys33814Asn)
n.446+6614T>A
n.220-5482T>A
c.105462A>T (p.Lys35154Asn)
c.79356A>T (p.Lys26452Asn)
c.79215A>T (p.Lys26405Asn)
c.105258A>T (p.Lys35086Asn)
c.100656A>T (p.Lys33552Asn)
c.100653A>T (p.Lys33551Asn)
c.97695A>T (p.Lys32565Asn)
c.79311A>T (p.Lys26437Asn)
c.100806A>T (p.Lys33602Asn)
c.100803A>T (p.Lys33601Asn)
c.100236A>T (p.Lys33412Asn)
c.97578A>T (p.Lys32526Asn)
c.97497A>T (p.Lys32499Asn)
c.79260A>T (p.Lys26420Asn)
c.69114A>T (p.Lys23038Asn)
2g.178530250T>CCA430235008TTN,TTN-AS1c.98661A>G (p.Lys32887=)
c.79746A>G (p.Lys26582=)
c.79545A>G (p.Lys26515=)
c.79170A>G (p.Lys26390=)
c.106365A>G (p.Lys35455=)
c.101442A>G (p.Lys33814=)
n.446+6614T>C
n.220-5482T>C
c.105462A>G (p.Lys35154=)
c.79356A>G (p.Lys26452=)
c.79215A>G (p.Lys26405=)
c.105258A>G (p.Lys35086=)
c.100656A>G (p.Lys33552=)
c.100653A>G (p.Lys33551=)
c.97695A>G (p.Lys32565=)
c.79311A>G (p.Lys26437=)
c.100806A>G (p.Lys33602=)
c.100803A>G (p.Lys33601=)
c.100236A>G (p.Lys33412=)
c.97578A>G (p.Lys32526=)
c.97497A>G (p.Lys32499=)
c.79260A>G (p.Lys26420=)
c.69114A>G (p.Lys23038=)
2g.178530250T>GCA1985124TTN,TTN-AS1c.98661A>C (p.Lys32887Asn)
c.79746A>C (p.Lys26582Asn)
c.79545A>C (p.Lys26515Asn)
c.79170A>C (p.Lys26390Asn)
c.106365A>C (p.Lys35455Asn)
c.101442A>C (p.Lys33814Asn)
n.446+6614T>G
n.220-5482T>G
c.105462A>C (p.Lys35154Asn)
c.79356A>C (p.Lys26452Asn)
c.79215A>C (p.Lys26405Asn)
c.105258A>C (p.Lys35086Asn)
c.100656A>C (p.Lys33552Asn)
c.100653A>C (p.Lys33551Asn)
c.97695A>C (p.Lys32565Asn)
c.79311A>C (p.Lys26437Asn)
c.100806A>C (p.Lys33602Asn)
c.100803A>C (p.Lys33601Asn)
c.100236A>C (p.Lys33412Asn)
c.97578A>C (p.Lys32526Asn)
c.97497A>C (p.Lys32499Asn)
c.79260A>C (p.Lys26420Asn)
c.69114A>C (p.Lys23038Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530250T=CA1310511666TTN,TTN-AS1c.98661A= (p.Lys32887=)
c.79746A= (p.Lys26582=)
c.79545A= (p.Lys26515=)
c.79170A= (p.Lys26390=)
c.106365A= (p.Lys35455=)
c.101442A= (p.Lys33814=)
n.446+6614T=
n.220-5482T=
c.105462A= (p.Lys35154=)
c.79356A= (p.Lys26452=)
c.79215A= (p.Lys26405=)
c.105258A= (p.Lys35086=)
c.100656A= (p.Lys33552=)
c.100653A= (p.Lys33551=)
c.97695A= (p.Lys32565=)
c.79311A= (p.Lys26437=)
c.100806A= (p.Lys33602=)
c.100803A= (p.Lys33601=)
c.100236A= (p.Lys33412=)
c.97578A= (p.Lys32526=)
c.97497A= (p.Lys32499=)
c.79260A= (p.Lys26420=)
c.69114A= (p.Lys23038=)
2g.178530253delCA430235009TTN,TTN-AS1c.98661del (p.Asp32888MetfsTer22)
c.79746del (p.Asp26583MetfsTer22)
c.79545del (p.Asp26516MetfsTer22)
c.79170del (p.Asp26391MetfsTer22)
c.106365del (p.Asp35456MetfsTer22)
c.101442del (p.Asp33815MetfsTer22)
n.446+6617del
n.220-5479del
c.105462del (p.Asp35155MetfsTer22)
c.79356del (p.Asp26453MetfsTer22)
c.79215del (p.Asp26406MetfsTer22)
c.105258del (p.Asp35087MetfsTer22)
c.100656del (p.Asp33553MetfsTer22)
c.100653del (p.Asp33552MetfsTer22)
c.97695del (p.Asp32566MetfsTer22)
c.79311del (p.Asp26438MetfsTer22)
c.100806del (p.Asp33603MetfsTer22)
c.100803del (p.Asp33602MetfsTer22)
c.100236del (p.Asp33413MetfsTer22)
c.97578del (p.Asp32527MetfsTer22)
c.97497del (p.Asp32500MetfsTer22)
c.79260del (p.Asp26421MetfsTer22)
c.69114del (p.Asp23039MetfsTer22)
2g.178530251T>ACA349405836TTN,TTN-AS1c.98660A>T (p.Lys32887Ile)
c.79745A>T (p.Lys26582Ile)
c.79544A>T (p.Lys26515Ile)
c.79169A>T (p.Lys26390Ile)
c.106364A>T (p.Lys35455Ile)
c.101441A>T (p.Lys33814Ile)
n.446+6615T>A
n.220-5481T>A
c.105461A>T (p.Lys35154Ile)
c.79355A>T (p.Lys26452Ile)
c.79214A>T (p.Lys26405Ile)
c.105257A>T (p.Lys35086Ile)
c.100655A>T (p.Lys33552Ile)
c.100652A>T (p.Lys33551Ile)
c.97694A>T (p.Lys32565Ile)
c.79310A>T (p.Lys26437Ile)
c.100805A>T (p.Lys33602Ile)
c.100802A>T (p.Lys33601Ile)
c.100235A>T (p.Lys33412Ile)
c.97577A>T (p.Lys32526Ile)
c.97496A>T (p.Lys32499Ile)
c.79259A>T (p.Lys26420Ile)
c.69113A>T (p.Lys23038Ile)
 dbSNP
2g.178530251T>CCA349405827TTN,TTN-AS1c.98660A>G (p.Lys32887Arg)
c.79745A>G (p.Lys26582Arg)
c.79544A>G (p.Lys26515Arg)
c.79169A>G (p.Lys26390Arg)
c.106364A>G (p.Lys35455Arg)
c.101441A>G (p.Lys33814Arg)
n.446+6615T>C
n.220-5481T>C
c.105461A>G (p.Lys35154Arg)
c.79355A>G (p.Lys26452Arg)
c.79214A>G (p.Lys26405Arg)
c.105257A>G (p.Lys35086Arg)
c.100655A>G (p.Lys33552Arg)
c.100652A>G (p.Lys33551Arg)
c.97694A>G (p.Lys32565Arg)
c.79310A>G (p.Lys26437Arg)
c.100805A>G (p.Lys33602Arg)
c.100802A>G (p.Lys33601Arg)
c.100235A>G (p.Lys33412Arg)
c.97577A>G (p.Lys32526Arg)
c.97496A>G (p.Lys32499Arg)
c.79259A>G (p.Lys26420Arg)
c.69113A>G (p.Lys23038Arg)
2g.178530251T>GCA349405833TTN,TTN-AS1c.98660A>C (p.Lys32887Thr)
c.79745A>C (p.Lys26582Thr)
c.79544A>C (p.Lys26515Thr)
c.79169A>C (p.Lys26390Thr)
c.106364A>C (p.Lys35455Thr)
c.101441A>C (p.Lys33814Thr)
n.446+6615T>G
n.220-5481T>G
c.105461A>C (p.Lys35154Thr)
c.79355A>C (p.Lys26452Thr)
c.79214A>C (p.Lys26405Thr)
c.105257A>C (p.Lys35086Thr)
c.100655A>C (p.Lys33552Thr)
c.100652A>C (p.Lys33551Thr)
c.97694A>C (p.Lys32565Thr)
c.79310A>C (p.Lys26437Thr)
c.100805A>C (p.Lys33602Thr)
c.100802A>C (p.Lys33601Thr)
c.100235A>C (p.Lys33412Thr)
c.97577A>C (p.Lys32526Thr)
c.97496A>C (p.Lys32499Thr)
c.79259A>C (p.Lys26420Thr)
c.69113A>C (p.Lys23038Thr)
2g.178530251T=CA1310511671TTN,TTN-AS1c.98660A= (p.Lys32887=)
c.79745A= (p.Lys26582=)
c.79544A= (p.Lys26515=)
c.79169A= (p.Lys26390=)
c.106364A= (p.Lys35455=)
c.101441A= (p.Lys33814=)
n.446+6615T=
n.220-5481T=
c.105461A= (p.Lys35154=)
c.79355A= (p.Lys26452=)
c.79214A= (p.Lys26405=)
c.105257A= (p.Lys35086=)
c.100655A= (p.Lys33552=)
c.100652A= (p.Lys33551=)
c.97694A= (p.Lys32565=)
c.79310A= (p.Lys26437=)
c.100805A= (p.Lys33602=)
c.100802A= (p.Lys33601=)
c.100235A= (p.Lys33412=)
c.97577A= (p.Lys32526=)
c.97496A= (p.Lys32499=)
c.79259A= (p.Lys26420=)
c.69113A= (p.Lys23038=)
2g.178530252T>ACA349405839TTN,TTN-AS1c.98659A>T (p.Lys32887Ter)
c.79744A>T (p.Lys26582Ter)
c.79543A>T (p.Lys26515Ter)
c.79168A>T (p.Lys26390Ter)
c.106363A>T (p.Lys35455Ter)
c.101440A>T (p.Lys33814Ter)
n.446+6616T>A
n.220-5480T>A
c.105460A>T (p.Lys35154Ter)
c.79354A>T (p.Lys26452Ter)
c.79213A>T (p.Lys26405Ter)
c.105256A>T (p.Lys35086Ter)
c.100654A>T (p.Lys33552Ter)
c.100651A>T (p.Lys33551Ter)
c.97693A>T (p.Lys32565Ter)
c.79309A>T (p.Lys26437Ter)
c.100804A>T (p.Lys33602Ter)
c.100801A>T (p.Lys33601Ter)
c.100234A>T (p.Lys33412Ter)
c.97576A>T (p.Lys32526Ter)
c.97495A>T (p.Lys32499Ter)
c.79258A>T (p.Lys26420Ter)
c.69112A>T (p.Lys23038Ter)
2g.178530252T>CCA349405842TTN,TTN-AS1c.98659A>G (p.Lys32887Glu)
c.79744A>G (p.Lys26582Glu)
c.79543A>G (p.Lys26515Glu)
c.79168A>G (p.Lys26390Glu)
c.106363A>G (p.Lys35455Glu)
c.101440A>G (p.Lys33814Glu)
n.446+6616T>C
n.220-5480T>C
c.105460A>G (p.Lys35154Glu)
c.79354A>G (p.Lys26452Glu)
c.79213A>G (p.Lys26405Glu)
c.105256A>G (p.Lys35086Glu)
c.100654A>G (p.Lys33552Glu)
c.100651A>G (p.Lys33551Glu)
c.97693A>G (p.Lys32565Glu)
c.79309A>G (p.Lys26437Glu)
c.100804A>G (p.Lys33602Glu)
c.100801A>G (p.Lys33601Glu)
c.100234A>G (p.Lys33412Glu)
c.97576A>G (p.Lys32526Glu)
c.97495A>G (p.Lys32499Glu)
c.79258A>G (p.Lys26420Glu)
c.69112A>G (p.Lys23038Glu)
2g.178530252T>GCA349405845TTN,TTN-AS1c.98659A>C (p.Lys32887Gln)
c.79744A>C (p.Lys26582Gln)
c.79543A>C (p.Lys26515Gln)
c.79168A>C (p.Lys26390Gln)
c.106363A>C (p.Lys35455Gln)
c.101440A>C (p.Lys33814Gln)
n.446+6616T>G
n.220-5480T>G
c.105460A>C (p.Lys35154Gln)
c.79354A>C (p.Lys26452Gln)
c.79213A>C (p.Lys26405Gln)
c.105256A>C (p.Lys35086Gln)
c.100654A>C (p.Lys33552Gln)
c.100651A>C (p.Lys33551Gln)
c.97693A>C (p.Lys32565Gln)
c.79309A>C (p.Lys26437Gln)
c.100804A>C (p.Lys33602Gln)
c.100801A>C (p.Lys33601Gln)
c.100234A>C (p.Lys33412Gln)
c.97576A>C (p.Lys32526Gln)
c.97495A>C (p.Lys32499Gln)
c.79258A>C (p.Lys26420Gln)
c.69112A>C (p.Lys23038Gln)
2g.178530253T>ACA430235014TTN,TTN-AS1c.98658A>T (p.Thr32886=)
c.79743A>T (p.Thr26581=)
c.79542A>T (p.Thr26514=)
c.79167A>T (p.Thr26389=)
c.106362A>T (p.Thr35454=)
c.101439A>T (p.Thr33813=)
n.446+6617T>A
n.220-5479T>A
c.105459A>T (p.Thr35153=)
c.79353A>T (p.Thr26451=)
c.79212A>T (p.Thr26404=)
c.105255A>T (p.Thr35085=)
c.100653A>T (p.Thr33551=)
c.100650A>T (p.Thr33550=)
c.97692A>T (p.Thr32564=)
c.79308A>T (p.Thr26436=)
c.100803A>T (p.Thr33601=)
c.100800A>T (p.Thr33600=)
c.100233A>T (p.Thr33411=)
c.97575A>T (p.Thr32525=)
c.97494A>T (p.Thr32498=)
c.79257A>T (p.Thr26419=)
c.69111A>T (p.Thr23037=)
2g.178530253T>CCA430235015TTN,TTN-AS1c.98658A>G (p.Thr32886=)
c.79743A>G (p.Thr26581=)
c.79542A>G (p.Thr26514=)
c.79167A>G (p.Thr26389=)
c.106362A>G (p.Thr35454=)
c.101439A>G (p.Thr33813=)
n.446+6617T>C
n.220-5479T>C
c.105459A>G (p.Thr35153=)
c.79353A>G (p.Thr26451=)
c.79212A>G (p.Thr26404=)
c.105255A>G (p.Thr35085=)
c.100653A>G (p.Thr33551=)
c.100650A>G (p.Thr33550=)
c.97692A>G (p.Thr32564=)
c.79308A>G (p.Thr26436=)
c.100803A>G (p.Thr33601=)
c.100800A>G (p.Thr33600=)
c.100233A>G (p.Thr33411=)
c.97575A>G (p.Thr32525=)
c.97494A>G (p.Thr32498=)
c.79257A>G (p.Thr26419=)
c.69111A>G (p.Thr23037=)
2g.178530253T>GCA430235016TTN,TTN-AS1c.98658A>C (p.Thr32886=)
c.79743A>C (p.Thr26581=)
c.79542A>C (p.Thr26514=)
c.79167A>C (p.Thr26389=)
c.106362A>C (p.Thr35454=)
c.101439A>C (p.Thr33813=)
n.446+6617T>G
n.220-5479T>G
c.105459A>C (p.Thr35153=)
c.79353A>C (p.Thr26451=)
c.79212A>C (p.Thr26404=)
c.105255A>C (p.Thr35085=)
c.100653A>C (p.Thr33551=)
c.100650A>C (p.Thr33550=)
c.97692A>C (p.Thr32564=)
c.79308A>C (p.Thr26436=)
c.100803A>C (p.Thr33601=)
c.100800A>C (p.Thr33600=)
c.100233A>C (p.Thr33411=)
c.97575A>C (p.Thr32525=)
c.97494A>C (p.Thr32498=)
c.79257A>C (p.Thr26419=)
c.69111A>C (p.Thr23037=)
 dbSNP
2g.178530253T=CA1310511674TTN,TTN-AS1c.98658A= (p.Thr32886=)
c.79743A= (p.Thr26581=)
c.79542A= (p.Thr26514=)
c.79167A= (p.Thr26389=)
c.106362A= (p.Thr35454=)
c.101439A= (p.Thr33813=)
n.446+6617T=
n.220-5479T=
c.105459A= (p.Thr35153=)
c.79353A= (p.Thr26451=)
c.79212A= (p.Thr26404=)
c.105255A= (p.Thr35085=)
c.100653A= (p.Thr33551=)
c.100650A= (p.Thr33550=)
c.97692A= (p.Thr32564=)
c.79308A= (p.Thr26436=)
c.100803A= (p.Thr33601=)
c.100800A= (p.Thr33600=)
c.100233A= (p.Thr33411=)
c.97575A= (p.Thr32525=)
c.97494A= (p.Thr32498=)
c.79257A= (p.Thr26419=)
c.69111A= (p.Thr23037=)
2g.178530254G>ACA349405848TTN,TTN-AS1c.98657C>T (p.Thr32886Ile)
c.79742C>T (p.Thr26581Ile)
c.79541C>T (p.Thr26514Ile)
c.79166C>T (p.Thr26389Ile)
c.106361C>T (p.Thr35454Ile)
c.101438C>T (p.Thr33813Ile)
n.446+6618G>A
n.220-5478G>A
c.105458C>T (p.Thr35153Ile)
c.79352C>T (p.Thr26451Ile)
c.79211C>T (p.Thr26404Ile)
c.105254C>T (p.Thr35085Ile)
c.100652C>T (p.Thr33551Ile)
c.100649C>T (p.Thr33550Ile)
c.97691C>T (p.Thr32564Ile)
c.79307C>T (p.Thr26436Ile)
c.100802C>T (p.Thr33601Ile)
c.100799C>T (p.Thr33600Ile)
c.100232C>T (p.Thr33411Ile)
c.97574C>T (p.Thr32525Ile)
c.97493C>T (p.Thr32498Ile)
c.79256C>T (p.Thr26419Ile)
c.69110C>T (p.Thr23037Ile)
2g.178530254G>CCA349405854TTN,TTN-AS1c.98657C>G (p.Thr32886Arg)
c.79742C>G (p.Thr26581Arg)
c.79541C>G (p.Thr26514Arg)
c.79166C>G (p.Thr26389Arg)
c.106361C>G (p.Thr35454Arg)
c.101438C>G (p.Thr33813Arg)
n.446+6618G>C
n.220-5478G>C
c.105458C>G (p.Thr35153Arg)
c.79352C>G (p.Thr26451Arg)
c.79211C>G (p.Thr26404Arg)
c.105254C>G (p.Thr35085Arg)
c.100652C>G (p.Thr33551Arg)
c.100649C>G (p.Thr33550Arg)
c.97691C>G (p.Thr32564Arg)
c.79307C>G (p.Thr26436Arg)
c.100802C>G (p.Thr33601Arg)
c.100799C>G (p.Thr33600Arg)
c.100232C>G (p.Thr33411Arg)
c.97574C>G (p.Thr32525Arg)
c.97493C>G (p.Thr32498Arg)
c.79256C>G (p.Thr26419Arg)
c.69110C>G (p.Thr23037Arg)
2g.178530254G>TCA349405858TTN,TTN-AS1c.98657C>A (p.Thr32886Lys)
c.79742C>A (p.Thr26581Lys)
c.79541C>A (p.Thr26514Lys)
c.79166C>A (p.Thr26389Lys)
c.106361C>A (p.Thr35454Lys)
c.101438C>A (p.Thr33813Lys)
n.446+6618G>T
n.220-5478G>T
c.105458C>A (p.Thr35153Lys)
c.79352C>A (p.Thr26451Lys)
c.79211C>A (p.Thr26404Lys)
c.105254C>A (p.Thr35085Lys)
c.100652C>A (p.Thr33551Lys)
c.100649C>A (p.Thr33550Lys)
c.97691C>A (p.Thr32564Lys)
c.79307C>A (p.Thr26436Lys)
c.100802C>A (p.Thr33601Lys)
c.100799C>A (p.Thr33600Lys)
c.100232C>A (p.Thr33411Lys)
c.97574C>A (p.Thr32525Lys)
c.97493C>A (p.Thr32498Lys)
c.79256C>A (p.Thr26419Lys)
c.69110C>A (p.Thr23037Lys)
2g.178530255T>ACA349405862TTN,TTN-AS1c.98656A>T (p.Thr32886Ser)
c.79741A>T (p.Thr26581Ser)
c.79540A>T (p.Thr26514Ser)
c.79165A>T (p.Thr26389Ser)
c.106360A>T (p.Thr35454Ser)
c.101437A>T (p.Thr33813Ser)
n.446+6619T>A
n.220-5477T>A
c.105457A>T (p.Thr35153Ser)
c.79351A>T (p.Thr26451Ser)
c.79210A>T (p.Thr26404Ser)
c.105253A>T (p.Thr35085Ser)
c.100651A>T (p.Thr33551Ser)
c.100648A>T (p.Thr33550Ser)
c.97690A>T (p.Thr32564Ser)
c.79306A>T (p.Thr26436Ser)
c.100801A>T (p.Thr33601Ser)
c.100798A>T (p.Thr33600Ser)
c.100231A>T (p.Thr33411Ser)
c.97573A>T (p.Thr32525Ser)
c.97492A>T (p.Thr32498Ser)
c.79255A>T (p.Thr26419Ser)
c.69109A>T (p.Thr23037Ser)
2g.178530255T>CCA349405863TTN,TTN-AS1c.98656A>G (p.Thr32886Ala)
c.79741A>G (p.Thr26581Ala)
c.79540A>G (p.Thr26514Ala)
c.79165A>G (p.Thr26389Ala)
c.106360A>G (p.Thr35454Ala)
c.101437A>G (p.Thr33813Ala)
n.446+6619T>C
n.220-5477T>C
c.105457A>G (p.Thr35153Ala)
c.79351A>G (p.Thr26451Ala)
c.79210A>G (p.Thr26404Ala)
c.105253A>G (p.Thr35085Ala)
c.100651A>G (p.Thr33551Ala)
c.100648A>G (p.Thr33550Ala)
c.97690A>G (p.Thr32564Ala)
c.79306A>G (p.Thr26436Ala)
c.100801A>G (p.Thr33601Ala)
c.100798A>G (p.Thr33600Ala)
c.100231A>G (p.Thr33411Ala)
c.97573A>G (p.Thr32525Ala)
c.97492A>G (p.Thr32498Ala)
c.79255A>G (p.Thr26419Ala)
c.69109A>G (p.Thr23037Ala)
2g.178530255T>GCA349405866TTN,TTN-AS1c.98656A>C (p.Thr32886Pro)
c.79741A>C (p.Thr26581Pro)
c.79540A>C (p.Thr26514Pro)
c.79165A>C (p.Thr26389Pro)
c.106360A>C (p.Thr35454Pro)
c.101437A>C (p.Thr33813Pro)
n.446+6619T>G
n.220-5477T>G
c.105457A>C (p.Thr35153Pro)
c.79351A>C (p.Thr26451Pro)
c.79210A>C (p.Thr26404Pro)
c.105253A>C (p.Thr35085Pro)
c.100651A>C (p.Thr33551Pro)
c.100648A>C (p.Thr33550Pro)
c.97690A>C (p.Thr32564Pro)
c.79306A>C (p.Thr26436Pro)
c.100801A>C (p.Thr33601Pro)
c.100798A>C (p.Thr33600Pro)
c.100231A>C (p.Thr33411Pro)
c.97573A>C (p.Thr32525Pro)
c.97492A>C (p.Thr32498Pro)
c.79255A>C (p.Thr26419Pro)
c.69109A>C (p.Thr23037Pro)
 dbSNP gnomAD v4
2g.178530255T=CA1310511677TTN,TTN-AS1c.98656A= (p.Thr32886=)
c.79741A= (p.Thr26581=)
c.79540A= (p.Thr26514=)
c.79165A= (p.Thr26389=)
c.106360A= (p.Thr35454=)
c.101437A= (p.Thr33813=)
n.446+6619T=
n.220-5477T=
c.105457A= (p.Thr35153=)
c.79351A= (p.Thr26451=)
c.79210A= (p.Thr26404=)
c.105253A= (p.Thr35085=)
c.100651A= (p.Thr33551=)
c.100648A= (p.Thr33550=)
c.97690A= (p.Thr32564=)
c.79306A= (p.Thr26436=)
c.100801A= (p.Thr33601=)
c.100798A= (p.Thr33600=)
c.100231A= (p.Thr33411=)
c.97573A= (p.Thr32525=)
c.97492A= (p.Thr32498=)
c.79255A= (p.Thr26419=)
c.69109A= (p.Thr23037=)
2g.178530256C>ACA349405868TTN,TTN-AS1c.98655G>T (p.Trp32885Cys)
c.79740G>T (p.Trp26580Cys)
c.79539G>T (p.Trp26513Cys)
c.79164G>T (p.Trp26388Cys)
c.106359G>T (p.Trp35453Cys)
c.101436G>T (p.Trp33812Cys)
n.446+6620C>A
n.220-5476C>A
c.105456G>T (p.Trp35152Cys)
c.79350G>T (p.Trp26450Cys)
c.79209G>T (p.Trp26403Cys)
c.105252G>T (p.Trp35084Cys)
c.100650G>T (p.Trp33550Cys)
c.100647G>T (p.Trp33549Cys)
c.97689G>T (p.Trp32563Cys)
c.79305G>T (p.Trp26435Cys)
c.100800G>T (p.Trp33600Cys)
c.100797G>T (p.Trp33599Cys)
c.100230G>T (p.Trp33410Cys)
c.97572G>T (p.Trp32524Cys)
c.97491G>T (p.Trp32497Cys)
c.79254G>T (p.Trp26418Cys)
c.69108G>T (p.Trp23036Cys)
 gnomAD v4
2g.178530256C>GCA349405870TTN,TTN-AS1c.98655G>C (p.Trp32885Cys)
c.79740G>C (p.Trp26580Cys)
c.79539G>C (p.Trp26513Cys)
c.79164G>C (p.Trp26388Cys)
c.106359G>C (p.Trp35453Cys)
c.101436G>C (p.Trp33812Cys)
n.446+6620C>G
n.220-5476C>G
c.105456G>C (p.Trp35152Cys)
c.79350G>C (p.Trp26450Cys)
c.79209G>C (p.Trp26403Cys)
c.105252G>C (p.Trp35084Cys)
c.100650G>C (p.Trp33550Cys)
c.100647G>C (p.Trp33549Cys)
c.97689G>C (p.Trp32563Cys)
c.79305G>C (p.Trp26435Cys)
c.100800G>C (p.Trp33600Cys)
c.100797G>C (p.Trp33599Cys)
c.100230G>C (p.Trp33410Cys)
c.97572G>C (p.Trp32524Cys)
c.97491G>C (p.Trp32497Cys)
c.79254G>C (p.Trp26418Cys)
c.69108G>C (p.Trp23036Cys)
2g.178530256C>TCA349405873TTN,TTN-AS1c.98655G>A (p.Trp32885Ter)
c.79740G>A (p.Trp26580Ter)
c.79539G>A (p.Trp26513Ter)
c.79164G>A (p.Trp26388Ter)
c.106359G>A (p.Trp35453Ter)
c.101436G>A (p.Trp33812Ter)
n.446+6620C>T
n.220-5476C>T
c.105456G>A (p.Trp35152Ter)
c.79350G>A (p.Trp26450Ter)
c.79209G>A (p.Trp26403Ter)
c.105252G>A (p.Trp35084Ter)
c.100650G>A (p.Trp33550Ter)
c.100647G>A (p.Trp33549Ter)
c.97689G>A (p.Trp32563Ter)
c.79305G>A (p.Trp26435Ter)
c.100800G>A (p.Trp33600Ter)
c.100797G>A (p.Trp33599Ter)
c.100230G>A (p.Trp33410Ter)
c.97572G>A (p.Trp32524Ter)
c.97491G>A (p.Trp32497Ter)
c.79254G>A (p.Trp26418Ter)
c.69108G>A (p.Trp23036Ter)
 gnomAD v4
2g.178530257C>ACA349405883TTN,TTN-AS1c.98654G>T (p.Trp32885Leu)
c.79739G>T (p.Trp26580Leu)
c.79538G>T (p.Trp26513Leu)
c.79163G>T (p.Trp26388Leu)
c.106358G>T (p.Trp35453Leu)
c.101435G>T (p.Trp33812Leu)
n.446+6621C>A
n.220-5475C>A
c.105455G>T (p.Trp35152Leu)
c.79349G>T (p.Trp26450Leu)
c.79208G>T (p.Trp26403Leu)
c.105251G>T (p.Trp35084Leu)
c.100649G>T (p.Trp33550Leu)
c.100646G>T (p.Trp33549Leu)
c.97688G>T (p.Trp32563Leu)
c.79304G>T (p.Trp26435Leu)
c.100799G>T (p.Trp33600Leu)
c.100796G>T (p.Trp33599Leu)
c.100229G>T (p.Trp33410Leu)
c.97571G>T (p.Trp32524Leu)
c.97490G>T (p.Trp32497Leu)
c.79253G>T (p.Trp26418Leu)
c.69107G>T (p.Trp23036Leu)
2g.178530257C=CA1310511680TTN,TTN-AS1c.98654G= (p.Trp32885=)
c.79739G= (p.Trp26580=)
c.79538G= (p.Trp26513=)
c.79163G= (p.Trp26388=)
c.106358G= (p.Trp35453=)
c.101435G= (p.Trp33812=)
n.446+6621C=
n.220-5475C=
c.105455G= (p.Trp35152=)
c.79349G= (p.Trp26450=)
c.79208G= (p.Trp26403=)
c.105251G= (p.Trp35084=)
c.100649G= (p.Trp33550=)
c.100646G= (p.Trp33549=)
c.97688G= (p.Trp32563=)
c.79304G= (p.Trp26435=)
c.100799G= (p.Trp33600=)
c.100796G= (p.Trp33599=)
c.100229G= (p.Trp33410=)
c.97571G= (p.Trp32524=)
c.97490G= (p.Trp32497=)
c.79253G= (p.Trp26418=)
c.69107G= (p.Trp23036=)
2g.178530257C>GCA349405880TTN,TTN-AS1c.98654G>C (p.Trp32885Ser)
c.79739G>C (p.Trp26580Ser)
c.79538G>C (p.Trp26513Ser)
c.79163G>C (p.Trp26388Ser)
c.106358G>C (p.Trp35453Ser)
c.101435G>C (p.Trp33812Ser)
n.446+6621C>G
n.220-5475C>G
c.105455G>C (p.Trp35152Ser)
c.79349G>C (p.Trp26450Ser)
c.79208G>C (p.Trp26403Ser)
c.105251G>C (p.Trp35084Ser)
c.100649G>C (p.Trp33550Ser)
c.100646G>C (p.Trp33549Ser)
c.97688G>C (p.Trp32563Ser)
c.79304G>C (p.Trp26435Ser)
c.100799G>C (p.Trp33600Ser)
c.100796G>C (p.Trp33599Ser)
c.100229G>C (p.Trp33410Ser)
c.97571G>C (p.Trp32524Ser)
c.97490G>C (p.Trp32497Ser)
c.79253G>C (p.Trp26418Ser)
c.69107G>C (p.Trp23036Ser)
2g.178530257C>TCA60953232TTN,TTN-AS1c.98654G>A (p.Trp32885Ter)
c.79739G>A (p.Trp26580Ter)
c.79538G>A (p.Trp26513Ter)
c.79163G>A (p.Trp26388Ter)
c.106358G>A (p.Trp35453Ter)
c.101435G>A (p.Trp33812Ter)
n.446+6621C>T
n.220-5475C>T
c.105455G>A (p.Trp35152Ter)
c.79349G>A (p.Trp26450Ter)
c.79208G>A (p.Trp26403Ter)
c.105251G>A (p.Trp35084Ter)
c.100649G>A (p.Trp33550Ter)
c.100646G>A (p.Trp33549Ter)
c.97688G>A (p.Trp32563Ter)
c.79304G>A (p.Trp26435Ter)
c.100799G>A (p.Trp33600Ter)
c.100796G>A (p.Trp33599Ter)
c.100229G>A (p.Trp33410Ter)
c.97571G>A (p.Trp32524Ter)
c.97490G>A (p.Trp32497Ter)
c.79253G>A (p.Trp26418Ter)
c.69107G>A (p.Trp23036Ter)
 ClinVar dbSNP
2g.178530258A>CCA349405888TTN,TTN-AS1c.98653T>G (p.Trp32885Gly)
c.79738T>G (p.Trp26580Gly)
c.79537T>G (p.Trp26513Gly)
c.79162T>G (p.Trp26388Gly)
c.106357T>G (p.Trp35453Gly)
c.101434T>G (p.Trp33812Gly)
n.446+6622A>C
n.220-5474A>C
c.105454T>G (p.Trp35152Gly)
c.79348T>G (p.Trp26450Gly)
c.79207T>G (p.Trp26403Gly)
c.105250T>G (p.Trp35084Gly)
c.100648T>G (p.Trp33550Gly)
c.100645T>G (p.Trp33549Gly)
c.97687T>G (p.Trp32563Gly)
c.79303T>G (p.Trp26435Gly)
c.100798T>G (p.Trp33600Gly)
c.100795T>G (p.Trp33599Gly)
c.100228T>G (p.Trp33410Gly)
c.97570T>G (p.Trp32524Gly)
c.97489T>G (p.Trp32497Gly)
c.79252T>G (p.Trp26418Gly)
c.69106T>G (p.Trp23036Gly)
2g.178530258A>GCA349405894TTN,TTN-AS1c.98653T>C (p.Trp32885Arg)
c.79738T>C (p.Trp26580Arg)
c.79537T>C (p.Trp26513Arg)
c.79162T>C (p.Trp26388Arg)
c.106357T>C (p.Trp35453Arg)
c.101434T>C (p.Trp33812Arg)
n.446+6622A>G
n.220-5474A>G
c.105454T>C (p.Trp35152Arg)
c.79348T>C (p.Trp26450Arg)
c.79207T>C (p.Trp26403Arg)
c.105250T>C (p.Trp35084Arg)
c.100648T>C (p.Trp33550Arg)
c.100645T>C (p.Trp33549Arg)
c.97687T>C (p.Trp32563Arg)
c.79303T>C (p.Trp26435Arg)
c.100798T>C (p.Trp33600Arg)
c.100795T>C (p.Trp33599Arg)
c.100228T>C (p.Trp33410Arg)
c.97570T>C (p.Trp32524Arg)
c.97489T>C (p.Trp32497Arg)
c.79252T>C (p.Trp26418Arg)
c.69106T>C (p.Trp23036Arg)
 gnomAD v4
2g.178530258A>TCA349405897TTN,TTN-AS1c.98653T>A (p.Trp32885Arg)
c.79738T>A (p.Trp26580Arg)
c.79537T>A (p.Trp26513Arg)
c.79162T>A (p.Trp26388Arg)
c.106357T>A (p.Trp35453Arg)
c.101434T>A (p.Trp33812Arg)
n.446+6622A>T
n.220-5474A>T
c.105454T>A (p.Trp35152Arg)
c.79348T>A (p.Trp26450Arg)
c.79207T>A (p.Trp26403Arg)
c.105250T>A (p.Trp35084Arg)
c.100648T>A (p.Trp33550Arg)
c.100645T>A (p.Trp33549Arg)
c.97687T>A (p.Trp32563Arg)
c.79303T>A (p.Trp26435Arg)
c.100798T>A (p.Trp33600Arg)
c.100795T>A (p.Trp33599Arg)
c.100228T>A (p.Trp33410Arg)
c.97570T>A (p.Trp32524Arg)
c.97489T>A (p.Trp32497Arg)
c.79252T>A (p.Trp26418Arg)
c.69106T>A (p.Trp23036Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178530259G>ACA430235023TTN,TTN-AS1c.98652C>T (p.Ile32884=)
c.79737C>T (p.Ile26579=)
c.79536C>T (p.Ile26512=)
c.79161C>T (p.Ile26387=)
c.106356C>T (p.Ile35452=)
c.101433C>T (p.Ile33811=)
n.446+6623G>A
n.220-5473G>A
c.105453C>T (p.Ile35151=)
c.79347C>T (p.Ile26449=)
c.79206C>T (p.Ile26402=)
c.105249C>T (p.Ile35083=)
c.100647C>T (p.Ile33549=)
c.100644C>T (p.Ile33548=)
c.97686C>T (p.Ile32562=)
c.79302C>T (p.Ile26434=)
c.100797C>T (p.Ile33599=)
c.100794C>T (p.Ile33598=)
c.100227C>T (p.Ile33409=)
c.97569C>T (p.Ile32523=)
c.97488C>T (p.Ile32496=)
c.79251C>T (p.Ile26417=)
c.69105C>T (p.Ile23035=)
2g.178530259G>CCA349405900TTN,TTN-AS1c.98652C>G (p.Ile32884Met)
c.79737C>G (p.Ile26579Met)
c.79536C>G (p.Ile26512Met)
c.79161C>G (p.Ile26387Met)
c.106356C>G (p.Ile35452Met)
c.101433C>G (p.Ile33811Met)
n.446+6623G>C
n.220-5473G>C
c.105453C>G (p.Ile35151Met)
c.79347C>G (p.Ile26449Met)
c.79206C>G (p.Ile26402Met)
c.105249C>G (p.Ile35083Met)
c.100647C>G (p.Ile33549Met)
c.100644C>G (p.Ile33548Met)
c.97686C>G (p.Ile32562Met)
c.79302C>G (p.Ile26434Met)
c.100797C>G (p.Ile33599Met)
c.100794C>G (p.Ile33598Met)
c.100227C>G (p.Ile33409Met)
c.97569C>G (p.Ile32523Met)
c.97488C>G (p.Ile32496Met)
c.79251C>G (p.Ile26417Met)
c.69105C>G (p.Ile23035Met)
 gnomAD v4
2g.178530259G>TCA430235024TTN,TTN-AS1c.98652C>A (p.Ile32884=)
c.79737C>A (p.Ile26579=)
c.79536C>A (p.Ile26512=)
c.79161C>A (p.Ile26387=)
c.106356C>A (p.Ile35452=)
c.101433C>A (p.Ile33811=)
n.446+6623G>T
n.220-5473G>T
c.105453C>A (p.Ile35151=)
c.79347C>A (p.Ile26449=)
c.79206C>A (p.Ile26402=)
c.105249C>A (p.Ile35083=)
c.100647C>A (p.Ile33549=)
c.100644C>A (p.Ile33548=)
c.97686C>A (p.Ile32562=)
c.79302C>A (p.Ile26434=)
c.100797C>A (p.Ile33599=)
c.100794C>A (p.Ile33598=)
c.100227C>A (p.Ile33409=)
c.97569C>A (p.Ile32523=)
c.97488C>A (p.Ile32496=)
c.79251C>A (p.Ile26417=)
c.69105C>A (p.Ile23035=)
2g.178530260A=CA1310511685TTN,TTN-AS1c.98651T= (p.Ile32884=)
c.79736T= (p.Ile26579=)
c.79535T= (p.Ile26512=)
c.79160T= (p.Ile26387=)
c.106355T= (p.Ile35452=)
c.101432T= (p.Ile33811=)
n.446+6624A=
n.220-5472A=
c.105452T= (p.Ile35151=)
c.79346T= (p.Ile26449=)
c.79205T= (p.Ile26402=)
c.105248T= (p.Ile35083=)
c.100646T= (p.Ile33549=)
c.100643T= (p.Ile33548=)
c.97685T= (p.Ile32562=)
c.79301T= (p.Ile26434=)
c.100796T= (p.Ile33599=)
c.100793T= (p.Ile33598=)
c.100226T= (p.Ile33409=)
c.97568T= (p.Ile32523=)
c.97487T= (p.Ile32496=)
c.79250T= (p.Ile26417=)
c.69104T= (p.Ile23035=)
2g.178530260A>CCA349405903TTN,TTN-AS1c.98651T>G (p.Ile32884Ser)
c.79736T>G (p.Ile26579Ser)
c.79535T>G (p.Ile26512Ser)
c.79160T>G (p.Ile26387Ser)
c.106355T>G (p.Ile35452Ser)
c.101432T>G (p.Ile33811Ser)
n.446+6624A>C
n.220-5472A>C
c.105452T>G (p.Ile35151Ser)
c.79346T>G (p.Ile26449Ser)
c.79205T>G (p.Ile26402Ser)
c.105248T>G (p.Ile35083Ser)
c.100646T>G (p.Ile33549Ser)
c.100643T>G (p.Ile33548Ser)
c.97685T>G (p.Ile32562Ser)
c.79301T>G (p.Ile26434Ser)
c.100796T>G (p.Ile33599Ser)
c.100793T>G (p.Ile33598Ser)
c.100226T>G (p.Ile33409Ser)
c.97568T>G (p.Ile32523Ser)
c.97487T>G (p.Ile32496Ser)
c.79250T>G (p.Ile26417Ser)
c.69104T>G (p.Ile23035Ser)
2g.178530260A>GCA349405906TTN,TTN-AS1c.98651T>C (p.Ile32884Thr)
c.79736T>C (p.Ile26579Thr)
c.79535T>C (p.Ile26512Thr)
c.79160T>C (p.Ile26387Thr)
c.106355T>C (p.Ile35452Thr)
c.101432T>C (p.Ile33811Thr)
n.446+6624A>G
n.220-5472A>G
c.105452T>C (p.Ile35151Thr)
c.79346T>C (p.Ile26449Thr)
c.79205T>C (p.Ile26402Thr)
c.105248T>C (p.Ile35083Thr)
c.100646T>C (p.Ile33549Thr)
c.100643T>C (p.Ile33548Thr)
c.97685T>C (p.Ile32562Thr)
c.79301T>C (p.Ile26434Thr)
c.100796T>C (p.Ile33599Thr)
c.100793T>C (p.Ile33598Thr)
c.100226T>C (p.Ile33409Thr)
c.97568T>C (p.Ile32523Thr)
c.97487T>C (p.Ile32496Thr)
c.79250T>C (p.Ile26417Thr)
c.69104T>C (p.Ile23035Thr)
 dbSNP
2g.178530260A>TCA349405908TTN,TTN-AS1c.98651T>A (p.Ile32884Asn)
c.79736T>A (p.Ile26579Asn)
c.79535T>A (p.Ile26512Asn)
c.79160T>A (p.Ile26387Asn)
c.106355T>A (p.Ile35452Asn)
c.101432T>A (p.Ile33811Asn)
n.446+6624A>T
n.220-5472A>T
c.105452T>A (p.Ile35151Asn)
c.79346T>A (p.Ile26449Asn)
c.79205T>A (p.Ile26402Asn)
c.105248T>A (p.Ile35083Asn)
c.100646T>A (p.Ile33549Asn)
c.100643T>A (p.Ile33548Asn)
c.97685T>A (p.Ile32562Asn)
c.79301T>A (p.Ile26434Asn)
c.100796T>A (p.Ile33599Asn)
c.100793T>A (p.Ile33598Asn)
c.100226T>A (p.Ile33409Asn)
c.97568T>A (p.Ile32523Asn)
c.97487T>A (p.Ile32496Asn)
c.79250T>A (p.Ile26417Asn)
c.69104T>A (p.Ile23035Asn)
2g.178530261T>ACA349405915TTN,TTN-AS1c.98650A>T (p.Ile32884Phe)
c.79735A>T (p.Ile26579Phe)
c.79534A>T (p.Ile26512Phe)
c.79159A>T (p.Ile26387Phe)
c.106354A>T (p.Ile35452Phe)
c.101431A>T (p.Ile33811Phe)
n.446+6625T>A
n.220-5471T>A
c.105451A>T (p.Ile35151Phe)
c.79345A>T (p.Ile26449Phe)
c.79204A>T (p.Ile26402Phe)
c.105247A>T (p.Ile35083Phe)
c.100645A>T (p.Ile33549Phe)
c.100642A>T (p.Ile33548Phe)
c.97684A>T (p.Ile32562Phe)
c.79300A>T (p.Ile26434Phe)
c.100795A>T (p.Ile33599Phe)
c.100792A>T (p.Ile33598Phe)
c.100225A>T (p.Ile33409Phe)
c.97567A>T (p.Ile32523Phe)
c.97486A>T (p.Ile32496Phe)
c.79249A>T (p.Ile26417Phe)
c.69103A>T (p.Ile23035Phe)
2g.178530261T>CCA349405917TTN,TTN-AS1c.98650A>G (p.Ile32884Val)
c.79735A>G (p.Ile26579Val)
c.79534A>G (p.Ile26512Val)
c.79159A>G (p.Ile26387Val)
c.106354A>G (p.Ile35452Val)
c.101431A>G (p.Ile33811Val)
n.446+6625T>C
n.220-5471T>C
c.105451A>G (p.Ile35151Val)
c.79345A>G (p.Ile26449Val)
c.79204A>G (p.Ile26402Val)
c.105247A>G (p.Ile35083Val)
c.100645A>G (p.Ile33549Val)
c.100642A>G (p.Ile33548Val)
c.97684A>G (p.Ile32562Val)
c.79300A>G (p.Ile26434Val)
c.100795A>G (p.Ile33599Val)
c.100792A>G (p.Ile33598Val)
c.100225A>G (p.Ile33409Val)
c.97567A>G (p.Ile32523Val)
c.97486A>G (p.Ile32496Val)
c.79249A>G (p.Ile26417Val)
c.69103A>G (p.Ile23035Val)
2g.178530261T>GCA349405919TTN,TTN-AS1c.98650A>C (p.Ile32884Leu)
c.79735A>C (p.Ile26579Leu)
c.79534A>C (p.Ile26512Leu)
c.79159A>C (p.Ile26387Leu)
c.106354A>C (p.Ile35452Leu)
c.101431A>C (p.Ile33811Leu)
n.446+6625T>G
n.220-5471T>G
c.105451A>C (p.Ile35151Leu)
c.79345A>C (p.Ile26449Leu)
c.79204A>C (p.Ile26402Leu)
c.105247A>C (p.Ile35083Leu)
c.100645A>C (p.Ile33549Leu)
c.100642A>C (p.Ile33548Leu)
c.97684A>C (p.Ile32562Leu)
c.79300A>C (p.Ile26434Leu)
c.100795A>C (p.Ile33599Leu)
c.100792A>C (p.Ile33598Leu)
c.100225A>C (p.Ile33409Leu)
c.97567A>C (p.Ile32523Leu)
c.97486A>C (p.Ile32496Leu)
c.79249A>C (p.Ile26417Leu)
c.69103A>C (p.Ile23035Leu)
2g.178530262G>ACA430235028TTN,TTN-AS1c.98649C>T (p.Ala32883=)
c.79734C>T (p.Ala26578=)
c.79533C>T (p.Ala26511=)
c.79158C>T (p.Ala26386=)
c.106353C>T (p.Ala35451=)
c.101430C>T (p.Ala33810=)
n.446+6626G>A
n.220-5470G>A
c.105450C>T (p.Ala35150=)
c.79344C>T (p.Ala26448=)
c.79203C>T (p.Ala26401=)
c.105246C>T (p.Ala35082=)
c.100644C>T (p.Ala33548=)
c.100641C>T (p.Ala33547=)
c.97683C>T (p.Ala32561=)
c.79299C>T (p.Ala26433=)
c.100794C>T (p.Ala33598=)
c.100791C>T (p.Ala33597=)
c.100224C>T (p.Ala33408=)
c.97566C>T (p.Ala32522=)
c.97485C>T (p.Ala32495=)
c.79248C>T (p.Ala26416=)
c.69102C>T (p.Ala23034=)
 gnomAD v4
2g.178530262G>CCA430235030TTN,TTN-AS1c.98649C>G (p.Ala32883=)
c.79734C>G (p.Ala26578=)
c.79533C>G (p.Ala26511=)
c.79158C>G (p.Ala26386=)
c.106353C>G (p.Ala35451=)
c.101430C>G (p.Ala33810=)
n.446+6626G>C
n.220-5470G>C
c.105450C>G (p.Ala35150=)
c.79344C>G (p.Ala26448=)
c.79203C>G (p.Ala26401=)
c.105246C>G (p.Ala35082=)
c.100644C>G (p.Ala33548=)
c.100641C>G (p.Ala33547=)
c.97683C>G (p.Ala32561=)
c.79299C>G (p.Ala26433=)
c.100794C>G (p.Ala33598=)
c.100791C>G (p.Ala33597=)
c.100224C>G (p.Ala33408=)
c.97566C>G (p.Ala32522=)
c.97485C>G (p.Ala32495=)
c.79248C>G (p.Ala26416=)
c.69102C>G (p.Ala23034=)
2g.178530262G>TCA430235029TTN,TTN-AS1c.98649C>A (p.Ala32883=)
c.79734C>A (p.Ala26578=)
c.79533C>A (p.Ala26511=)
c.79158C>A (p.Ala26386=)
c.106353C>A (p.Ala35451=)
c.101430C>A (p.Ala33810=)
n.446+6626G>T
n.220-5470G>T
c.105450C>A (p.Ala35150=)
c.79344C>A (p.Ala26448=)
c.79203C>A (p.Ala26401=)
c.105246C>A (p.Ala35082=)
c.100644C>A (p.Ala33548=)
c.100641C>A (p.Ala33547=)
c.97683C>A (p.Ala32561=)
c.79299C>A (p.Ala26433=)
c.100794C>A (p.Ala33598=)
c.100791C>A (p.Ala33597=)
c.100224C>A (p.Ala33408=)
c.97566C>A (p.Ala32522=)
c.97485C>A (p.Ala32495=)
c.79248C>A (p.Ala26416=)
c.69102C>A (p.Ala23034=)
2g.178530263G>ACA349405925TTN,TTN-AS1c.98648C>T (p.Ala32883Val)
c.79733C>T (p.Ala26578Val)
c.79532C>T (p.Ala26511Val)
c.79157C>T (p.Ala26386Val)
c.106352C>T (p.Ala35451Val)
c.101429C>T (p.Ala33810Val)
n.446+6627G>A
n.220-5469G>A
c.105449C>T (p.Ala35150Val)
c.79343C>T (p.Ala26448Val)
c.79202C>T (p.Ala26401Val)
c.105245C>T (p.Ala35082Val)
c.100643C>T (p.Ala33548Val)
c.100640C>T (p.Ala33547Val)
c.97682C>T (p.Ala32561Val)
c.79298C>T (p.Ala26433Val)
c.100793C>T (p.Ala33598Val)
c.100790C>T (p.Ala33597Val)
c.100223C>T (p.Ala33408Val)
c.97565C>T (p.Ala32522Val)
c.97484C>T (p.Ala32495Val)
c.79247C>T (p.Ala26416Val)
c.69101C>T (p.Ala23034Val)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178530263G>CCA349405928TTN,TTN-AS1c.98648C>G (p.Ala32883Gly)
c.79733C>G (p.Ala26578Gly)
c.79532C>G (p.Ala26511Gly)
c.79157C>G (p.Ala26386Gly)
c.106352C>G (p.Ala35451Gly)
c.101429C>G (p.Ala33810Gly)
n.446+6627G>C
n.220-5469G>C
c.105449C>G (p.Ala35150Gly)
c.79343C>G (p.Ala26448Gly)
c.79202C>G (p.Ala26401Gly)
c.105245C>G (p.Ala35082Gly)
c.100643C>G (p.Ala33548Gly)
c.100640C>G (p.Ala33547Gly)
c.97682C>G (p.Ala32561Gly)
c.79298C>G (p.Ala26433Gly)
c.100793C>G (p.Ala33598Gly)
c.100790C>G (p.Ala33597Gly)
c.100223C>G (p.Ala33408Gly)
c.97565C>G (p.Ala32522Gly)
c.97484C>G (p.Ala32495Gly)
c.79247C>G (p.Ala26416Gly)
c.69101C>G (p.Ala23034Gly)
2g.178530263G>TCA349405934TTN,TTN-AS1c.98648C>A (p.Ala32883Asp)
c.79733C>A (p.Ala26578Asp)
c.79532C>A (p.Ala26511Asp)
c.79157C>A (p.Ala26386Asp)
c.106352C>A (p.Ala35451Asp)
c.101429C>A (p.Ala33810Asp)
n.446+6627G>T
n.220-5469G>T
c.105449C>A (p.Ala35150Asp)
c.79343C>A (p.Ala26448Asp)
c.79202C>A (p.Ala26401Asp)
c.105245C>A (p.Ala35082Asp)
c.100643C>A (p.Ala33548Asp)
c.100640C>A (p.Ala33547Asp)
c.97682C>A (p.Ala32561Asp)
c.79298C>A (p.Ala26433Asp)
c.100793C>A (p.Ala33598Asp)
c.100790C>A (p.Ala33597Asp)
c.100223C>A (p.Ala33408Asp)
c.97565C>A (p.Ala32522Asp)
c.97484C>A (p.Ala32495Asp)
c.79247C>A (p.Ala26416Asp)
c.69101C>A (p.Ala23034Asp)
2g.178530264C>ACA349405940TTN,TTN-AS1c.98647G>T (p.Ala32883Ser)
c.79732G>T (p.Ala26578Ser)
c.79531G>T (p.Ala26511Ser)
c.79156G>T (p.Ala26386Ser)
c.106351G>T (p.Ala35451Ser)
c.101428G>T (p.Ala33810Ser)
n.446+6628C>A
n.220-5468C>A
c.105448G>T (p.Ala35150Ser)
c.79342G>T (p.Ala26448Ser)
c.79201G>T (p.Ala26401Ser)
c.105244G>T (p.Ala35082Ser)
c.100642G>T (p.Ala33548Ser)
c.100639G>T (p.Ala33547Ser)
c.97681G>T (p.Ala32561Ser)
c.79297G>T (p.Ala26433Ser)
c.100792G>T (p.Ala33598Ser)
c.100789G>T (p.Ala33597Ser)
c.100222G>T (p.Ala33408Ser)
c.97564G>T (p.Ala32522Ser)
c.97483G>T (p.Ala32495Ser)
c.79246G>T (p.Ala26416Ser)
c.69100G>T (p.Ala23034Ser)
2g.178530264C>GCA349405943TTN,TTN-AS1c.98647G>C (p.Ala32883Pro)
c.79732G>C (p.Ala26578Pro)
c.79531G>C (p.Ala26511Pro)
c.79156G>C (p.Ala26386Pro)
c.106351G>C (p.Ala35451Pro)
c.101428G>C (p.Ala33810Pro)
n.446+6628C>G
n.220-5468C>G
c.105448G>C (p.Ala35150Pro)
c.79342G>C (p.Ala26448Pro)
c.79201G>C (p.Ala26401Pro)
c.105244G>C (p.Ala35082Pro)
c.100642G>C (p.Ala33548Pro)
c.100639G>C (p.Ala33547Pro)
c.97681G>C (p.Ala32561Pro)
c.79297G>C (p.Ala26433Pro)
c.100792G>C (p.Ala33598Pro)
c.100789G>C (p.Ala33597Pro)
c.100222G>C (p.Ala33408Pro)
c.97564G>C (p.Ala32522Pro)
c.97483G>C (p.Ala32495Pro)
c.79246G>C (p.Ala26416Pro)
c.69100G>C (p.Ala23034Pro)
2g.178530264C>TCA349405937TTN,TTN-AS1c.98647G>A (p.Ala32883Thr)
c.79732G>A (p.Ala26578Thr)
c.79531G>A (p.Ala26511Thr)
c.79156G>A (p.Ala26386Thr)
c.106351G>A (p.Ala35451Thr)
c.101428G>A (p.Ala33810Thr)
n.446+6628C>T
n.220-5468C>T
c.105448G>A (p.Ala35150Thr)
c.79342G>A (p.Ala26448Thr)
c.79201G>A (p.Ala26401Thr)
c.105244G>A (p.Ala35082Thr)
c.100642G>A (p.Ala33548Thr)
c.100639G>A (p.Ala33547Thr)
c.97681G>A (p.Ala32561Thr)
c.79297G>A (p.Ala26433Thr)
c.100792G>A (p.Ala33598Thr)
c.100789G>A (p.Ala33597Thr)
c.100222G>A (p.Ala33408Thr)
c.97564G>A (p.Ala32522Thr)
c.97483G>A (p.Ala32495Thr)
c.79246G>A (p.Ala26416Thr)
c.69100G>A (p.Ala23034Thr)
2g.178530265A=CA1310511687TTN,TTN-AS1c.98646T= (p.Thr32882=)
c.79731T= (p.Thr26577=)
c.79530T= (p.Thr26510=)
c.79155T= (p.Thr26385=)
c.106350T= (p.Thr35450=)
c.101427T= (p.Thr33809=)
n.446+6629A=
n.220-5467A=
c.105447T= (p.Thr35149=)
c.79341T= (p.Thr26447=)
c.79200T= (p.Thr26400=)
c.105243T= (p.Thr35081=)
c.100641T= (p.Thr33547=)
c.100638T= (p.Thr33546=)
c.97680T= (p.Thr32560=)
c.79296T= (p.Thr26432=)
c.100791T= (p.Thr33597=)
c.100788T= (p.Thr33596=)
c.100221T= (p.Thr33407=)
c.97563T= (p.Thr32521=)
c.97482T= (p.Thr32494=)
c.79245T= (p.Thr26415=)
c.69099T= (p.Thr23033=)
2g.178530265A>CCA430235036TTN,TTN-AS1c.98646T>G (p.Thr32882=)
c.79731T>G (p.Thr26577=)
c.79530T>G (p.Thr26510=)
c.79155T>G (p.Thr26385=)
c.106350T>G (p.Thr35450=)
c.101427T>G (p.Thr33809=)
n.446+6629A>C
n.220-5467A>C
c.105447T>G (p.Thr35149=)
c.79341T>G (p.Thr26447=)
c.79200T>G (p.Thr26400=)
c.105243T>G (p.Thr35081=)
c.100641T>G (p.Thr33547=)
c.100638T>G (p.Thr33546=)
c.97680T>G (p.Thr32560=)
c.79296T>G (p.Thr26432=)
c.100791T>G (p.Thr33597=)
c.100788T>G (p.Thr33596=)
c.100221T>G (p.Thr33407=)
c.97563T>G (p.Thr32521=)
c.97482T>G (p.Thr32494=)
c.79245T>G (p.Thr26415=)
c.69099T>G (p.Thr23033=)
2g.178530265A>GCA1985125TTN,TTN-AS1c.98646T>C (p.Thr32882=)
c.79731T>C (p.Thr26577=)
c.79530T>C (p.Thr26510=)
c.79155T>C (p.Thr26385=)
c.106350T>C (p.Thr35450=)
c.101427T>C (p.Thr33809=)
n.446+6629A>G
n.220-5467A>G
c.105447T>C (p.Thr35149=)
c.79341T>C (p.Thr26447=)
c.79200T>C (p.Thr26400=)
c.105243T>C (p.Thr35081=)
c.100641T>C (p.Thr33547=)
c.100638T>C (p.Thr33546=)
c.97680T>C (p.Thr32560=)
c.79296T>C (p.Thr26432=)
c.100791T>C (p.Thr33597=)
c.100788T>C (p.Thr33596=)
c.100221T>C (p.Thr33407=)
c.97563T>C (p.Thr32521=)
c.97482T>C (p.Thr32494=)
c.79245T>C (p.Thr26415=)
c.69099T>C (p.Thr23033=)
 dbSNP ExAC gnomAD v2
2g.178530265A>TCA430235038TTN,TTN-AS1c.98646T>A (p.Thr32882=)
c.79731T>A (p.Thr26577=)
c.79530T>A (p.Thr26510=)
c.79155T>A (p.Thr26385=)
c.106350T>A (p.Thr35450=)
c.101427T>A (p.Thr33809=)
n.446+6629A>T
n.220-5467A>T
c.105447T>A (p.Thr35149=)
c.79341T>A (p.Thr26447=)
c.79200T>A (p.Thr26400=)
c.105243T>A (p.Thr35081=)
c.100641T>A (p.Thr33547=)
c.100638T>A (p.Thr33546=)
c.97680T>A (p.Thr32560=)
c.79296T>A (p.Thr26432=)
c.100791T>A (p.Thr33597=)
c.100788T>A (p.Thr33596=)
c.100221T>A (p.Thr33407=)
c.97563T>A (p.Thr32521=)
c.97482T>A (p.Thr32494=)
c.79245T>A (p.Thr26415=)
c.69099T>A (p.Thr23033=)
2g.178530266G>ACA349405951TTN,TTN-AS1c.98645C>T (p.Thr32882Ile)
c.79730C>T (p.Thr26577Ile)
c.79529C>T (p.Thr26510Ile)
c.79154C>T (p.Thr26385Ile)
c.106349C>T (p.Thr35450Ile)
c.101426C>T (p.Thr33809Ile)
n.446+6630G>A
n.220-5466G>A
c.105446C>T (p.Thr35149Ile)
c.79340C>T (p.Thr26447Ile)
c.79199C>T (p.Thr26400Ile)
c.105242C>T (p.Thr35081Ile)
c.100640C>T (p.Thr33547Ile)
c.100637C>T (p.Thr33546Ile)
c.97679C>T (p.Thr32560Ile)
c.79295C>T (p.Thr26432Ile)
c.100790C>T (p.Thr33597Ile)
c.100787C>T (p.Thr33596Ile)
c.100220C>T (p.Thr33407Ile)
c.97562C>T (p.Thr32521Ile)
c.97481C>T (p.Thr32494Ile)
c.79244C>T (p.Thr26415Ile)
c.69098C>T (p.Thr23033Ile)
 ClinVar dbSNP gnomAD v4
2g.178530266G>CCA1985126TTN,TTN-AS1c.98645C>G (p.Thr32882Ser)
c.79730C>G (p.Thr26577Ser)
c.79529C>G (p.Thr26510Ser)
c.79154C>G (p.Thr26385Ser)
c.106349C>G (p.Thr35450Ser)
c.101426C>G (p.Thr33809Ser)
n.446+6630G>C
n.220-5466G>C
c.105446C>G (p.Thr35149Ser)
c.79340C>G (p.Thr26447Ser)
c.79199C>G (p.Thr26400Ser)
c.105242C>G (p.Thr35081Ser)
c.100640C>G (p.Thr33547Ser)
c.100637C>G (p.Thr33546Ser)
c.97679C>G (p.Thr32560Ser)
c.79295C>G (p.Thr26432Ser)
c.100790C>G (p.Thr33597Ser)
c.100787C>G (p.Thr33596Ser)
c.100220C>G (p.Thr33407Ser)
c.97562C>G (p.Thr32521Ser)
c.97481C>G (p.Thr32494Ser)
c.79244C>G (p.Thr26415Ser)
c.69098C>G (p.Thr23033Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530266G=CA1310511693TTN,TTN-AS1c.98645C= (p.Thr32882=)
c.79730C= (p.Thr26577=)
c.79529C= (p.Thr26510=)
c.79154C= (p.Thr26385=)
c.106349C= (p.Thr35450=)
c.101426C= (p.Thr33809=)
n.446+6630G=
n.220-5466G=
c.105446C= (p.Thr35149=)
c.79340C= (p.Thr26447=)
c.79199C= (p.Thr26400=)
c.105242C= (p.Thr35081=)
c.100640C= (p.Thr33547=)
c.100637C= (p.Thr33546=)
c.97679C= (p.Thr32560=)
c.79295C= (p.Thr26432=)
c.100790C= (p.Thr33597=)
c.100787C= (p.Thr33596=)
c.100220C= (p.Thr33407=)
c.97562C= (p.Thr32521=)
c.97481C= (p.Thr32494=)
c.79244C= (p.Thr26415=)
c.69098C= (p.Thr23033=)
2g.178530266G>TCA349405955TTN,TTN-AS1c.98645C>A (p.Thr32882Asn)
c.79730C>A (p.Thr26577Asn)
c.79529C>A (p.Thr26510Asn)
c.79154C>A (p.Thr26385Asn)
c.106349C>A (p.Thr35450Asn)
c.101426C>A (p.Thr33809Asn)
n.446+6630G>T
n.220-5466G>T
c.105446C>A (p.Thr35149Asn)
c.79340C>A (p.Thr26447Asn)
c.79199C>A (p.Thr26400Asn)
c.105242C>A (p.Thr35081Asn)
c.100640C>A (p.Thr33547Asn)
c.100637C>A (p.Thr33546Asn)
c.97679C>A (p.Thr32560Asn)
c.79295C>A (p.Thr26432Asn)
c.100790C>A (p.Thr33597Asn)
c.100787C>A (p.Thr33596Asn)
c.100220C>A (p.Thr33407Asn)
c.97562C>A (p.Thr32521Asn)
c.97481C>A (p.Thr32494Asn)
c.79244C>A (p.Thr26415Asn)
c.69098C>A (p.Thr23033Asn)
2g.178530267T>ACA349405967TTN,TTN-AS1c.98644A>T (p.Thr32882Ser)
c.79729A>T (p.Thr26577Ser)
c.79528A>T (p.Thr26510Ser)
c.79153A>T (p.Thr26385Ser)
c.106348A>T (p.Thr35450Ser)
c.101425A>T (p.Thr33809Ser)
n.446+6631T>A
n.220-5465T>A
c.105445A>T (p.Thr35149Ser)
c.79339A>T (p.Thr26447Ser)
c.79198A>T (p.Thr26400Ser)
c.105241A>T (p.Thr35081Ser)
c.100639A>T (p.Thr33547Ser)
c.100636A>T (p.Thr33546Ser)
c.97678A>T (p.Thr32560Ser)
c.79294A>T (p.Thr26432Ser)
c.100789A>T (p.Thr33597Ser)
c.100786A>T (p.Thr33596Ser)
c.100219A>T (p.Thr33407Ser)
c.97561A>T (p.Thr32521Ser)
c.97480A>T (p.Thr32494Ser)
c.79243A>T (p.Thr26415Ser)
c.69097A>T (p.Thr23033Ser)
2g.178530267T>CCA349405965TTN,TTN-AS1c.98644A>G (p.Thr32882Ala)
c.79729A>G (p.Thr26577Ala)
c.79528A>G (p.Thr26510Ala)
c.79153A>G (p.Thr26385Ala)
c.106348A>G (p.Thr35450Ala)
c.101425A>G (p.Thr33809Ala)
n.446+6631T>C
n.220-5465T>C
c.105445A>G (p.Thr35149Ala)
c.79339A>G (p.Thr26447Ala)
c.79198A>G (p.Thr26400Ala)
c.105241A>G (p.Thr35081Ala)
c.100639A>G (p.Thr33547Ala)
c.100636A>G (p.Thr33546Ala)
c.97678A>G (p.Thr32560Ala)
c.79294A>G (p.Thr26432Ala)
c.100789A>G (p.Thr33597Ala)
c.100786A>G (p.Thr33596Ala)
c.100219A>G (p.Thr33407Ala)
c.97561A>G (p.Thr32521Ala)
c.97480A>G (p.Thr32494Ala)
c.79243A>G (p.Thr26415Ala)
c.69097A>G (p.Thr23033Ala)
2g.178530267T>GCA349405961TTN,TTN-AS1c.98644A>C (p.Thr32882Pro)
c.79729A>C (p.Thr26577Pro)
c.79528A>C (p.Thr26510Pro)
c.79153A>C (p.Thr26385Pro)
c.106348A>C (p.Thr35450Pro)
c.101425A>C (p.Thr33809Pro)
n.446+6631T>G
n.220-5465T>G
c.105445A>C (p.Thr35149Pro)
c.79339A>C (p.Thr26447Pro)
c.79198A>C (p.Thr26400Pro)
c.105241A>C (p.Thr35081Pro)
c.100639A>C (p.Thr33547Pro)
c.100636A>C (p.Thr33546Pro)
c.97678A>C (p.Thr32560Pro)
c.79294A>C (p.Thr26432Pro)
c.100789A>C (p.Thr33597Pro)
c.100786A>C (p.Thr33596Pro)
c.100219A>C (p.Thr33407Pro)
c.97561A>C (p.Thr32521Pro)
c.97480A>C (p.Thr32494Pro)
c.79243A>C (p.Thr26415Pro)
c.69097A>C (p.Thr23033Pro)
2g.178530268T>ACA430235042TTN,TTN-AS1c.98643A>T (p.Pro32881=)
c.79728A>T (p.Pro26576=)
c.79527A>T (p.Pro26509=)
c.79152A>T (p.Pro26384=)
c.106347A>T (p.Pro35449=)
c.101424A>T (p.Pro33808=)
n.446+6632T>A
n.220-5464T>A
c.105444A>T (p.Pro35148=)
c.79338A>T (p.Pro26446=)
c.79197A>T (p.Pro26399=)
c.105240A>T (p.Pro35080=)
c.100638A>T (p.Pro33546=)
c.100635A>T (p.Pro33545=)
c.97677A>T (p.Pro32559=)
c.79293A>T (p.Pro26431=)
c.100788A>T (p.Pro33596=)
c.100785A>T (p.Pro33595=)
c.100218A>T (p.Pro33406=)
c.97560A>T (p.Pro32520=)
c.97479A>T (p.Pro32493=)
c.79242A>T (p.Pro26414=)
c.69096A>T (p.Pro23032=)
2g.178530268T>CCA430235045TTN,TTN-AS1c.98643A>G (p.Pro32881=)
c.79728A>G (p.Pro26576=)
c.79527A>G (p.Pro26509=)
c.79152A>G (p.Pro26384=)
c.106347A>G (p.Pro35449=)
c.101424A>G (p.Pro33808=)
n.446+6632T>C
n.220-5464T>C
c.105444A>G (p.Pro35148=)
c.79338A>G (p.Pro26446=)
c.79197A>G (p.Pro26399=)
c.105240A>G (p.Pro35080=)
c.100638A>G (p.Pro33546=)
c.100635A>G (p.Pro33545=)
c.97677A>G (p.Pro32559=)
c.79293A>G (p.Pro26431=)
c.100788A>G (p.Pro33596=)
c.100785A>G (p.Pro33595=)
c.100218A>G (p.Pro33406=)
c.97560A>G (p.Pro32520=)
c.97479A>G (p.Pro32493=)
c.79242A>G (p.Pro26414=)
c.69096A>G (p.Pro23032=)
2g.178530268T>GCA430235044TTN,TTN-AS1c.98643A>C (p.Pro32881=)
c.79728A>C (p.Pro26576=)
c.79527A>C (p.Pro26509=)
c.79152A>C (p.Pro26384=)
c.106347A>C (p.Pro35449=)
c.101424A>C (p.Pro33808=)
n.446+6632T>G
n.220-5464T>G
c.105444A>C (p.Pro35148=)
c.79338A>C (p.Pro26446=)
c.79197A>C (p.Pro26399=)
c.105240A>C (p.Pro35080=)
c.100638A>C (p.Pro33546=)
c.100635A>C (p.Pro33545=)
c.97677A>C (p.Pro32559=)
c.79293A>C (p.Pro26431=)
c.100788A>C (p.Pro33596=)
c.100785A>C (p.Pro33595=)
c.100218A>C (p.Pro33406=)
c.97560A>C (p.Pro32520=)
c.97479A>C (p.Pro32493=)
c.79242A>C (p.Pro26414=)
c.69096A>C (p.Pro23032=)
2g.178530269G>ACA349405969TTN,TTN-AS1c.98642C>T (p.Pro32881Leu)
c.79727C>T (p.Pro26576Leu)
c.79526C>T (p.Pro26509Leu)
c.79151C>T (p.Pro26384Leu)
c.106346C>T (p.Pro35449Leu)
c.101423C>T (p.Pro33808Leu)
n.446+6633G>A
n.220-5463G>A
c.105443C>T (p.Pro35148Leu)
c.79337C>T (p.Pro26446Leu)
c.79196C>T (p.Pro26399Leu)
c.105239C>T (p.Pro35080Leu)
c.100637C>T (p.Pro33546Leu)
c.100634C>T (p.Pro33545Leu)
c.97676C>T (p.Pro32559Leu)
c.79292C>T (p.Pro26431Leu)
c.100787C>T (p.Pro33596Leu)
c.100784C>T (p.Pro33595Leu)
c.100217C>T (p.Pro33406Leu)
c.97559C>T (p.Pro32520Leu)
c.97478C>T (p.Pro32493Leu)
c.79241C>T (p.Pro26414Leu)
c.69095C>T (p.Pro23032Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178530269G>CCA349405971TTN,TTN-AS1c.98642C>G (p.Pro32881Arg)
c.79727C>G (p.Pro26576Arg)
c.79526C>G (p.Pro26509Arg)
c.79151C>G (p.Pro26384Arg)
c.106346C>G (p.Pro35449Arg)
c.101423C>G (p.Pro33808Arg)
n.446+6633G>C
n.220-5463G>C
c.105443C>G (p.Pro35148Arg)
c.79337C>G (p.Pro26446Arg)
c.79196C>G (p.Pro26399Arg)
c.105239C>G (p.Pro35080Arg)
c.100637C>G (p.Pro33546Arg)
c.100634C>G (p.Pro33545Arg)
c.97676C>G (p.Pro32559Arg)
c.79292C>G (p.Pro26431Arg)
c.100787C>G (p.Pro33596Arg)
c.100784C>G (p.Pro33595Arg)
c.100217C>G (p.Pro33406Arg)
c.97559C>G (p.Pro32520Arg)
c.97478C>G (p.Pro32493Arg)
c.79241C>G (p.Pro26414Arg)
c.69095C>G (p.Pro23032Arg)
2g.178530269G=CA1310511695TTN,TTN-AS1c.98642C= (p.Pro32881=)
c.79727C= (p.Pro26576=)
c.79526C= (p.Pro26509=)
c.79151C= (p.Pro26384=)
c.106346C= (p.Pro35449=)
c.101423C= (p.Pro33808=)
n.446+6633G=
n.220-5463G=
c.105443C= (p.Pro35148=)
c.79337C= (p.Pro26446=)
c.79196C= (p.Pro26399=)
c.105239C= (p.Pro35080=)
c.100637C= (p.Pro33546=)
c.100634C= (p.Pro33545=)
c.97676C= (p.Pro32559=)
c.79292C= (p.Pro26431=)
c.100787C= (p.Pro33596=)
c.100784C= (p.Pro33595=)
c.100217C= (p.Pro33406=)
c.97559C= (p.Pro32520=)
c.97478C= (p.Pro32493=)
c.79241C= (p.Pro26414=)
c.69095C= (p.Pro23032=)
2g.178530269G>TCA349405974TTN,TTN-AS1c.98642C>A (p.Pro32881Gln)
c.79727C>A (p.Pro26576Gln)
c.79526C>A (p.Pro26509Gln)
c.79151C>A (p.Pro26384Gln)
c.106346C>A (p.Pro35449Gln)
c.101423C>A (p.Pro33808Gln)
n.446+6633G>T
n.220-5463G>T
c.105443C>A (p.Pro35148Gln)
c.79337C>A (p.Pro26446Gln)
c.79196C>A (p.Pro26399Gln)
c.105239C>A (p.Pro35080Gln)
c.100637C>A (p.Pro33546Gln)
c.100634C>A (p.Pro33545Gln)
c.97676C>A (p.Pro32559Gln)
c.79292C>A (p.Pro26431Gln)
c.100787C>A (p.Pro33596Gln)
c.100784C>A (p.Pro33595Gln)
c.100217C>A (p.Pro33406Gln)
c.97559C>A (p.Pro32520Gln)
c.97478C>A (p.Pro32493Gln)
c.79241C>A (p.Pro26414Gln)
c.69095C>A (p.Pro23032Gln)
 dbSNP gnomAD v4
2g.178530270G>ACA349405984TTN,TTN-AS1c.98641C>T (p.Pro32881Ser)
c.79726C>T (p.Pro26576Ser)
c.79525C>T (p.Pro26509Ser)
c.79150C>T (p.Pro26384Ser)
c.106345C>T (p.Pro35449Ser)
c.101422C>T (p.Pro33808Ser)
n.446+6634G>A
n.220-5462G>A
c.105442C>T (p.Pro35148Ser)
c.79336C>T (p.Pro26446Ser)
c.79195C>T (p.Pro26399Ser)
c.105238C>T (p.Pro35080Ser)
c.100636C>T (p.Pro33546Ser)
c.100633C>T (p.Pro33545Ser)
c.97675C>T (p.Pro32559Ser)
c.79291C>T (p.Pro26431Ser)
c.100786C>T (p.Pro33596Ser)
c.100783C>T (p.Pro33595Ser)
c.100216C>T (p.Pro33406Ser)
c.97558C>T (p.Pro32520Ser)
c.97477C>T (p.Pro32493Ser)
c.79240C>T (p.Pro26414Ser)
c.69094C>T (p.Pro23032Ser)
2g.178530270G>CCA349405985TTN,TTN-AS1c.98641C>G (p.Pro32881Ala)
c.79726C>G (p.Pro26576Ala)
c.79525C>G (p.Pro26509Ala)
c.79150C>G (p.Pro26384Ala)
c.106345C>G (p.Pro35449Ala)
c.101422C>G (p.Pro33808Ala)
n.446+6634G>C
n.220-5462G>C
c.105442C>G (p.Pro35148Ala)
c.79336C>G (p.Pro26446Ala)
c.79195C>G (p.Pro26399Ala)
c.105238C>G (p.Pro35080Ala)
c.100636C>G (p.Pro33546Ala)
c.100633C>G (p.Pro33545Ala)
c.97675C>G (p.Pro32559Ala)
c.79291C>G (p.Pro26431Ala)
c.100786C>G (p.Pro33596Ala)
c.100783C>G (p.Pro33595Ala)
c.100216C>G (p.Pro33406Ala)
c.97558C>G (p.Pro32520Ala)
c.97477C>G (p.Pro32493Ala)
c.79240C>G (p.Pro26414Ala)
c.69094C>G (p.Pro23032Ala)
2g.178530270G>TCA349405986TTN,TTN-AS1c.98641C>A (p.Pro32881Thr)
c.79726C>A (p.Pro26576Thr)
c.79525C>A (p.Pro26509Thr)
c.79150C>A (p.Pro26384Thr)
c.106345C>A (p.Pro35449Thr)
c.101422C>A (p.Pro33808Thr)
n.446+6634G>T
n.220-5462G>T
c.105442C>A (p.Pro35148Thr)
c.79336C>A (p.Pro26446Thr)
c.79195C>A (p.Pro26399Thr)
c.105238C>A (p.Pro35080Thr)
c.100636C>A (p.Pro33546Thr)
c.100633C>A (p.Pro33545Thr)
c.97675C>A (p.Pro32559Thr)
c.79291C>A (p.Pro26431Thr)
c.100786C>A (p.Pro33596Thr)
c.100783C>A (p.Pro33595Thr)
c.100216C>A (p.Pro33406Thr)
c.97558C>A (p.Pro32520Thr)
c.97477C>A (p.Pro32493Thr)
c.79240C>A (p.Pro26414Thr)
c.69094C>A (p.Pro23032Thr)
2g.178530271C>ACA430235047TTN,TTN-AS1c.98640G>T (p.Arg32880=)
c.79725G>T (p.Arg26575=)
c.79524G>T (p.Arg26508=)
c.79149G>T (p.Arg26383=)
c.106344G>T (p.Arg35448=)
c.101421G>T (p.Arg33807=)
n.446+6635C>A
n.220-5461C>A
c.105441G>T (p.Arg35147=)
c.79335G>T (p.Arg26445=)
c.79194G>T (p.Arg26398=)
c.105237G>T (p.Arg35079=)
c.100635G>T (p.Arg33545=)
c.100632G>T (p.Arg33544=)
c.97674G>T (p.Arg32558=)
c.79290G>T (p.Arg26430=)
c.100785G>T (p.Arg33595=)
c.100782G>T (p.Arg33594=)
c.100215G>T (p.Arg33405=)
c.97557G>T (p.Arg32519=)
c.97476G>T (p.Arg32492=)
c.79239G>T (p.Arg26413=)
c.69093G>T (p.Arg23031=)
2g.178530271C>GCA430235048TTN,TTN-AS1c.98640G>C (p.Arg32880=)
c.79725G>C (p.Arg26575=)
c.79524G>C (p.Arg26508=)
c.79149G>C (p.Arg26383=)
c.106344G>C (p.Arg35448=)
c.101421G>C (p.Arg33807=)
n.446+6635C>G
n.220-5461C>G
c.105441G>C (p.Arg35147=)
c.79335G>C (p.Arg26445=)
c.79194G>C (p.Arg26398=)
c.105237G>C (p.Arg35079=)
c.100635G>C (p.Arg33545=)
c.100632G>C (p.Arg33544=)
c.97674G>C (p.Arg32558=)
c.79290G>C (p.Arg26430=)
c.100785G>C (p.Arg33595=)
c.100782G>C (p.Arg33594=)
c.100215G>C (p.Arg33405=)
c.97557G>C (p.Arg32519=)
c.97476G>C (p.Arg32492=)
c.79239G>C (p.Arg26413=)
c.69093G>C (p.Arg23031=)
2g.178530271C>TCA430235049TTN,TTN-AS1c.98640G>A (p.Arg32880=)
c.79725G>A (p.Arg26575=)
c.79524G>A (p.Arg26508=)
c.79149G>A (p.Arg26383=)
c.106344G>A (p.Arg35448=)
c.101421G>A (p.Arg33807=)
n.446+6635C>T
n.220-5461C>T
c.105441G>A (p.Arg35147=)
c.79335G>A (p.Arg26445=)
c.79194G>A (p.Arg26398=)
c.105237G>A (p.Arg35079=)
c.100635G>A (p.Arg33545=)
c.100632G>A (p.Arg33544=)
c.97674G>A (p.Arg32558=)
c.79290G>A (p.Arg26430=)
c.100785G>A (p.Arg33595=)
c.100782G>A (p.Arg33594=)
c.100215G>A (p.Arg33405=)
c.97557G>A (p.Arg32519=)
c.97476G>A (p.Arg32492=)
c.79239G>A (p.Arg26413=)
c.69093G>A (p.Arg23031=)
 ClinVar COSMIC COSMIC COSMIC COSMIC
2g.178530272C>ACA349405987TTN,TTN-AS1c.98639G>T (p.Arg32880Leu)
c.79724G>T (p.Arg26575Leu)
c.79523G>T (p.Arg26508Leu)
c.79148G>T (p.Arg26383Leu)
c.106343G>T (p.Arg35448Leu)
c.101420G>T (p.Arg33807Leu)
n.446+6636C>A
n.220-5460C>A
c.105440G>T (p.Arg35147Leu)
c.79334G>T (p.Arg26445Leu)
c.79193G>T (p.Arg26398Leu)
c.105236G>T (p.Arg35079Leu)
c.100634G>T (p.Arg33545Leu)
c.100631G>T (p.Arg33544Leu)
c.97673G>T (p.Arg32558Leu)
c.79289G>T (p.Arg26430Leu)
c.100784G>T (p.Arg33595Leu)
c.100781G>T (p.Arg33594Leu)
c.100214G>T (p.Arg33405Leu)
c.97556G>T (p.Arg32519Leu)
c.97475G>T (p.Arg32492Leu)
c.79238G>T (p.Arg26413Leu)
c.69092G>T (p.Arg23031Leu)
2g.178530272C=CA1310511701TTN,TTN-AS1c.98639G= (p.Arg32880=)
c.79724G= (p.Arg26575=)
c.79523G= (p.Arg26508=)
c.79148G= (p.Arg26383=)
c.106343G= (p.Arg35448=)
c.101420G= (p.Arg33807=)
n.446+6636C=
n.220-5460C=
c.105440G= (p.Arg35147=)
c.79334G= (p.Arg26445=)
c.79193G= (p.Arg26398=)
c.105236G= (p.Arg35079=)
c.100634G= (p.Arg33545=)
c.100631G= (p.Arg33544=)
c.97673G= (p.Arg32558=)
c.79289G= (p.Arg26430=)
c.100784G= (p.Arg33595=)
c.100781G= (p.Arg33594=)
c.100214G= (p.Arg33405=)
c.97556G= (p.Arg32519=)
c.97475G= (p.Arg32492=)
c.79238G= (p.Arg26413=)
c.69092G= (p.Arg23031=)
2g.178530272C>GCA60953241TTN,TTN-AS1c.98639G>C (p.Arg32880Pro)
c.79724G>C (p.Arg26575Pro)
c.79523G>C (p.Arg26508Pro)
c.79148G>C (p.Arg26383Pro)
c.106343G>C (p.Arg35448Pro)
c.101420G>C (p.Arg33807Pro)
n.446+6636C>G
n.220-5460C>G
c.105440G>C (p.Arg35147Pro)
c.79334G>C (p.Arg26445Pro)
c.79193G>C (p.Arg26398Pro)
c.105236G>C (p.Arg35079Pro)
c.100634G>C (p.Arg33545Pro)
c.100631G>C (p.Arg33544Pro)
c.97673G>C (p.Arg32558Pro)
c.79289G>C (p.Arg26430Pro)
c.100784G>C (p.Arg33595Pro)
c.100781G>C (p.Arg33594Pro)
c.100214G>C (p.Arg33405Pro)
c.97556G>C (p.Arg32519Pro)
c.97475G>C (p.Arg32492Pro)
c.79238G>C (p.Arg26413Pro)
c.69092G>C (p.Arg23031Pro)
 dbSNP
2g.178530272C>TCA302375TTN,TTN-AS1c.98639G>A (p.Arg32880Gln)
c.79724G>A (p.Arg26575Gln)
c.79523G>A (p.Arg26508Gln)
c.79148G>A (p.Arg26383Gln)
c.106343G>A (p.Arg35448Gln)
c.101420G>A (p.Arg33807Gln)
n.446+6636C>T
n.220-5460C>T
c.105440G>A (p.Arg35147Gln)
c.79334G>A (p.Arg26445Gln)
c.79193G>A (p.Arg26398Gln)
c.105236G>A (p.Arg35079Gln)
c.100634G>A (p.Arg33545Gln)
c.100631G>A (p.Arg33544Gln)
c.97673G>A (p.Arg32558Gln)
c.79289G>A (p.Arg26430Gln)
c.100784G>A (p.Arg33595Gln)
c.100781G>A (p.Arg33594Gln)
c.100214G>A (p.Arg33405Gln)
c.97556G>A (p.Arg32519Gln)
c.97475G>A (p.Arg32492Gln)
c.79238G>A (p.Arg26413Gln)
c.69092G>A (p.Arg23031Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530273G>ACA1985127TTN,TTN-AS1c.98638C>T (p.Arg32880Trp)
c.79723C>T (p.Arg26575Trp)
c.79522C>T (p.Arg26508Trp)
c.79147C>T (p.Arg26383Trp)
c.106342C>T (p.Arg35448Trp)
c.101419C>T (p.Arg33807Trp)
n.446+6637G>A
n.220-5459G>A
c.105439C>T (p.Arg35147Trp)
c.79333C>T (p.Arg26445Trp)
c.79192C>T (p.Arg26398Trp)
c.105235C>T (p.Arg35079Trp)
c.100633C>T (p.Arg33545Trp)
c.100630C>T (p.Arg33544Trp)
c.97672C>T (p.Arg32558Trp)
c.79288C>T (p.Arg26430Trp)
c.100783C>T (p.Arg33595Trp)
c.100780C>T (p.Arg33594Trp)
c.100213C>T (p.Arg33405Trp)
c.97555C>T (p.Arg32519Trp)
c.97474C>T (p.Arg32492Trp)
c.79237C>T (p.Arg26413Trp)
c.69091C>T (p.Arg23031Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530273G>CCA349405990TTN,TTN-AS1c.98638C>G (p.Arg32880Gly)
c.79723C>G (p.Arg26575Gly)
c.79522C>G (p.Arg26508Gly)
c.79147C>G (p.Arg26383Gly)
c.106342C>G (p.Arg35448Gly)
c.101419C>G (p.Arg33807Gly)
n.446+6637G>C
n.220-5459G>C
c.105439C>G (p.Arg35147Gly)
c.79333C>G (p.Arg26445Gly)
c.79192C>G (p.Arg26398Gly)
c.105235C>G (p.Arg35079Gly)
c.100633C>G (p.Arg33545Gly)
c.100630C>G (p.Arg33544Gly)
c.97672C>G (p.Arg32558Gly)
c.79288C>G (p.Arg26430Gly)
c.100783C>G (p.Arg33595Gly)
c.100780C>G (p.Arg33594Gly)
c.100213C>G (p.Arg33405Gly)
c.97555C>G (p.Arg32519Gly)
c.97474C>G (p.Arg32492Gly)
c.79237C>G (p.Arg26413Gly)
c.69091C>G (p.Arg23031Gly)
2g.178530273G=CA1310511709TTN,TTN-AS1c.98638C= (p.Arg32880=)
c.79723C= (p.Arg26575=)
c.79522C= (p.Arg26508=)
c.79147C= (p.Arg26383=)
c.106342C= (p.Arg35448=)
c.101419C= (p.Arg33807=)
n.446+6637G=
n.220-5459G=
c.105439C= (p.Arg35147=)
c.79333C= (p.Arg26445=)
c.79192C= (p.Arg26398=)
c.105235C= (p.Arg35079=)
c.100633C= (p.Arg33545=)
c.100630C= (p.Arg33544=)
c.97672C= (p.Arg32558=)
c.79288C= (p.Arg26430=)
c.100783C= (p.Arg33595=)
c.100780C= (p.Arg33594=)
c.100213C= (p.Arg33405=)
c.97555C= (p.Arg32519=)
c.97474C= (p.Arg32492=)
c.79237C= (p.Arg26413=)
c.69091C= (p.Arg23031=)
2g.178530273G>TCA430235051TTN,TTN-AS1c.98638C>A (p.Arg32880=)
c.79723C>A (p.Arg26575=)
c.79522C>A (p.Arg26508=)
c.79147C>A (p.Arg26383=)
c.106342C>A (p.Arg35448=)
c.101419C>A (p.Arg33807=)
n.446+6637G>T
n.220-5459G>T
c.105439C>A (p.Arg35147=)
c.79333C>A (p.Arg26445=)
c.79192C>A (p.Arg26398=)
c.105235C>A (p.Arg35079=)
c.100633C>A (p.Arg33545=)
c.100630C>A (p.Arg33544=)
c.97672C>A (p.Arg32558=)
c.79288C>A (p.Arg26430=)
c.100783C>A (p.Arg33595=)
c.100780C>A (p.Arg33594=)
c.100213C>A (p.Arg33405=)
c.97555C>A (p.Arg32519=)
c.97474C>A (p.Arg32492=)
c.79237C>A (p.Arg26413=)
c.69091C>A (p.Arg23031=)
2g.178530274G>ACA430235053TTN,TTN-AS1c.98637C>T (p.Pro32879=)
c.79722C>T (p.Pro26574=)
c.79521C>T (p.Pro26507=)
c.79146C>T (p.Pro26382=)
c.106341C>T (p.Pro35447=)
c.101418C>T (p.Pro33806=)
n.446+6638G>A
n.220-5458G>A
c.105438C>T (p.Pro35146=)
c.79332C>T (p.Pro26444=)
c.79191C>T (p.Pro26397=)
c.105234C>T (p.Pro35078=)
c.100632C>T (p.Pro33544=)
c.100629C>T (p.Pro33543=)
c.97671C>T (p.Pro32557=)
c.79287C>T (p.Pro26429=)
c.100782C>T (p.Pro33594=)
c.100779C>T (p.Pro33593=)
c.100212C>T (p.Pro33404=)
c.97554C>T (p.Pro32518=)
c.97473C>T (p.Pro32491=)
c.79236C>T (p.Pro26412=)
c.69090C>T (p.Pro23030=)
2g.178530274G>CCA430235054TTN,TTN-AS1c.98637C>G (p.Pro32879=)
c.79722C>G (p.Pro26574=)
c.79521C>G (p.Pro26507=)
c.79146C>G (p.Pro26382=)
c.106341C>G (p.Pro35447=)
c.101418C>G (p.Pro33806=)
n.446+6638G>C
n.220-5458G>C
c.105438C>G (p.Pro35146=)
c.79332C>G (p.Pro26444=)
c.79191C>G (p.Pro26397=)
c.105234C>G (p.Pro35078=)
c.100632C>G (p.Pro33544=)
c.100629C>G (p.Pro33543=)
c.97671C>G (p.Pro32557=)
c.79287C>G (p.Pro26429=)
c.100782C>G (p.Pro33594=)
c.100779C>G (p.Pro33593=)
c.100212C>G (p.Pro33404=)
c.97554C>G (p.Pro32518=)
c.97473C>G (p.Pro32491=)
c.79236C>G (p.Pro26412=)
c.69090C>G (p.Pro23030=)
2g.178530274G>TCA430235055TTN,TTN-AS1c.98637C>A (p.Pro32879=)
c.79722C>A (p.Pro26574=)
c.79521C>A (p.Pro26507=)
c.79146C>A (p.Pro26382=)
c.106341C>A (p.Pro35447=)
c.101418C>A (p.Pro33806=)
n.446+6638G>T
n.220-5458G>T
c.105438C>A (p.Pro35146=)
c.79332C>A (p.Pro26444=)
c.79191C>A (p.Pro26397=)
c.105234C>A (p.Pro35078=)
c.100632C>A (p.Pro33544=)
c.100629C>A (p.Pro33543=)
c.97671C>A (p.Pro32557=)
c.79287C>A (p.Pro26429=)
c.100782C>A (p.Pro33594=)
c.100779C>A (p.Pro33593=)
c.100212C>A (p.Pro33404=)
c.97554C>A (p.Pro32518=)
c.97473C>A (p.Pro32491=)
c.79236C>A (p.Pro26412=)
c.69090C>A (p.Pro23030=)
 gnomAD v4
2g.178530275G>ACA349405993TTN,TTN-AS1c.98636C>T (p.Pro32879Leu)
c.79721C>T (p.Pro26574Leu)
c.79520C>T (p.Pro26507Leu)
c.79145C>T (p.Pro26382Leu)
c.106340C>T (p.Pro35447Leu)
c.101417C>T (p.Pro33806Leu)
n.446+6639G>A
n.220-5457G>A
c.105437C>T (p.Pro35146Leu)
c.79331C>T (p.Pro26444Leu)
c.79190C>T (p.Pro26397Leu)
c.105233C>T (p.Pro35078Leu)
c.100631C>T (p.Pro33544Leu)
c.100628C>T (p.Pro33543Leu)
c.97670C>T (p.Pro32557Leu)
c.79286C>T (p.Pro26429Leu)
c.100781C>T (p.Pro33594Leu)
c.100778C>T (p.Pro33593Leu)
c.100211C>T (p.Pro33404Leu)
c.97553C>T (p.Pro32518Leu)
c.97472C>T (p.Pro32491Leu)
c.79235C>T (p.Pro26412Leu)
c.69089C>T (p.Pro23030Leu)
2g.178530275G>CCA349405998TTN,TTN-AS1c.98636C>G (p.Pro32879Arg)
c.79721C>G (p.Pro26574Arg)
c.79520C>G (p.Pro26507Arg)
c.79145C>G (p.Pro26382Arg)
c.106340C>G (p.Pro35447Arg)
c.101417C>G (p.Pro33806Arg)
n.446+6639G>C
n.220-5457G>C
c.105437C>G (p.Pro35146Arg)
c.79331C>G (p.Pro26444Arg)
c.79190C>G (p.Pro26397Arg)
c.105233C>G (p.Pro35078Arg)
c.100631C>G (p.Pro33544Arg)
c.100628C>G (p.Pro33543Arg)
c.97670C>G (p.Pro32557Arg)
c.79286C>G (p.Pro26429Arg)
c.100781C>G (p.Pro33594Arg)
c.100778C>G (p.Pro33593Arg)
c.100211C>G (p.Pro33404Arg)
c.97553C>G (p.Pro32518Arg)
c.97472C>G (p.Pro32491Arg)
c.79235C>G (p.Pro26412Arg)
c.69089C>G (p.Pro23030Arg)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530275G>TCA349405996TTN,TTN-AS1c.98636C>A (p.Pro32879His)
c.79721C>A (p.Pro26574His)
c.79520C>A (p.Pro26507His)
c.79145C>A (p.Pro26382His)
c.106340C>A (p.Pro35447His)
c.101417C>A (p.Pro33806His)
n.446+6639G>T
n.220-5457G>T
c.105437C>A (p.Pro35146His)
c.79331C>A (p.Pro26444His)
c.79190C>A (p.Pro26397His)
c.105233C>A (p.Pro35078His)
c.100631C>A (p.Pro33544His)
c.100628C>A (p.Pro33543His)
c.97670C>A (p.Pro32557His)
c.79286C>A (p.Pro26429His)
c.100781C>A (p.Pro33594His)
c.100778C>A (p.Pro33593His)
c.100211C>A (p.Pro33404His)
c.97553C>A (p.Pro32518His)
c.97472C>A (p.Pro32491His)
c.79235C>A (p.Pro26412His)
c.69089C>A (p.Pro23030His)
 dbSNP
2g.178530276G>ACA349406001TTN,TTN-AS1c.98635C>T (p.Pro32879Ser)
c.79720C>T (p.Pro26574Ser)
c.79519C>T (p.Pro26507Ser)
c.79144C>T (p.Pro26382Ser)
c.106339C>T (p.Pro35447Ser)
c.101416C>T (p.Pro33806Ser)
n.446+6640G>A
n.220-5456G>A
c.105436C>T (p.Pro35146Ser)
c.79330C>T (p.Pro26444Ser)
c.79189C>T (p.Pro26397Ser)
c.105232C>T (p.Pro35078Ser)
c.100630C>T (p.Pro33544Ser)
c.100627C>T (p.Pro33543Ser)
c.97669C>T (p.Pro32557Ser)
c.79285C>T (p.Pro26429Ser)
c.100780C>T (p.Pro33594Ser)
c.100777C>T (p.Pro33593Ser)
c.100210C>T (p.Pro33404Ser)
c.97552C>T (p.Pro32518Ser)
c.97471C>T (p.Pro32491Ser)
c.79234C>T (p.Pro26412Ser)
c.69088C>T (p.Pro23030Ser)
 gnomAD v4
2g.178530276G>CCA349406006TTN,TTN-AS1c.98635C>G (p.Pro32879Ala)
c.79720C>G (p.Pro26574Ala)
c.79519C>G (p.Pro26507Ala)
c.79144C>G (p.Pro26382Ala)
c.106339C>G (p.Pro35447Ala)
c.101416C>G (p.Pro33806Ala)
n.446+6640G>C
n.220-5456G>C
c.105436C>G (p.Pro35146Ala)
c.79330C>G (p.Pro26444Ala)
c.79189C>G (p.Pro26397Ala)
c.105232C>G (p.Pro35078Ala)
c.100630C>G (p.Pro33544Ala)
c.100627C>G (p.Pro33543Ala)
c.97669C>G (p.Pro32557Ala)
c.79285C>G (p.Pro26429Ala)
c.100780C>G (p.Pro33594Ala)
c.100777C>G (p.Pro33593Ala)
c.100210C>G (p.Pro33404Ala)
c.97552C>G (p.Pro32518Ala)
c.97471C>G (p.Pro32491Ala)
c.79234C>G (p.Pro26412Ala)
c.69088C>G (p.Pro23030Ala)
2g.178530276G>TCA349406003TTN,TTN-AS1c.98635C>A (p.Pro32879Thr)
c.79720C>A (p.Pro26574Thr)
c.79519C>A (p.Pro26507Thr)
c.79144C>A (p.Pro26382Thr)
c.106339C>A (p.Pro35447Thr)
c.101416C>A (p.Pro33806Thr)
n.446+6640G>T
n.220-5456G>T
c.105436C>A (p.Pro35146Thr)
c.79330C>A (p.Pro26444Thr)
c.79189C>A (p.Pro26397Thr)
c.105232C>A (p.Pro35078Thr)
c.100630C>A (p.Pro33544Thr)
c.100627C>A (p.Pro33543Thr)
c.97669C>A (p.Pro32557Thr)
c.79285C>A (p.Pro26429Thr)
c.100780C>A (p.Pro33594Thr)
c.100777C>A (p.Pro33593Thr)
c.100210C>A (p.Pro33404Thr)
c.97552C>A (p.Pro32518Thr)
c.97471C>A (p.Pro32491Thr)
c.79234C>A (p.Pro26412Thr)
c.69088C>A (p.Pro23030Thr)
2g.178530277T>ACA349406008TTN,TTN-AS1c.98634A>T (p.Glu32878Asp)
c.79719A>T (p.Glu26573Asp)
c.79518A>T (p.Glu26506Asp)
c.79143A>T (p.Glu26381Asp)
c.106338A>T (p.Glu35446Asp)
c.101415A>T (p.Glu33805Asp)
n.446+6641T>A
n.220-5455T>A
c.105435A>T (p.Glu35145Asp)
c.79329A>T (p.Glu26443Asp)
c.79188A>T (p.Glu26396Asp)
c.105231A>T (p.Glu35077Asp)
c.100629A>T (p.Glu33543Asp)
c.100626A>T (p.Glu33542Asp)
c.97668A>T (p.Glu32556Asp)
c.79284A>T (p.Glu26428Asp)
c.100779A>T (p.Glu33593Asp)
c.100776A>T (p.Glu33592Asp)
c.100209A>T (p.Glu33403Asp)
c.97551A>T (p.Glu32517Asp)
c.97470A>T (p.Glu32490Asp)
c.79233A>T (p.Glu26411Asp)
c.69087A>T (p.Glu23029Asp)
2g.178530277T>CCA430235059TTN,TTN-AS1c.98634A>G (p.Glu32878=)
c.79719A>G (p.Glu26573=)
c.79518A>G (p.Glu26506=)
c.79143A>G (p.Glu26381=)
c.106338A>G (p.Glu35446=)
c.101415A>G (p.Glu33805=)
n.446+6641T>C
n.220-5455T>C
c.105435A>G (p.Glu35145=)
c.79329A>G (p.Glu26443=)
c.79188A>G (p.Glu26396=)
c.105231A>G (p.Glu35077=)
c.100629A>G (p.Glu33543=)
c.100626A>G (p.Glu33542=)
c.97668A>G (p.Glu32556=)
c.79284A>G (p.Glu26428=)
c.100779A>G (p.Glu33593=)
c.100776A>G (p.Glu33592=)
c.100209A>G (p.Glu33403=)
c.97551A>G (p.Glu32517=)
c.97470A>G (p.Glu32490=)
c.79233A>G (p.Glu26411=)
c.69087A>G (p.Glu23029=)
2g.178530277T>GCA349406010TTN,TTN-AS1c.98634A>C (p.Glu32878Asp)
c.79719A>C (p.Glu26573Asp)
c.79518A>C (p.Glu26506Asp)
c.79143A>C (p.Glu26381Asp)
c.106338A>C (p.Glu35446Asp)
c.101415A>C (p.Glu33805Asp)
n.446+6641T>G
n.220-5455T>G
c.105435A>C (p.Glu35145Asp)
c.79329A>C (p.Glu26443Asp)
c.79188A>C (p.Glu26396Asp)
c.105231A>C (p.Glu35077Asp)
c.100629A>C (p.Glu33543Asp)
c.100626A>C (p.Glu33542Asp)
c.97668A>C (p.Glu32556Asp)
c.79284A>C (p.Glu26428Asp)
c.100779A>C (p.Glu33593Asp)
c.100776A>C (p.Glu33592Asp)
c.100209A>C (p.Glu33403Asp)
c.97551A>C (p.Glu32517Asp)
c.97470A>C (p.Glu32490Asp)
c.79233A>C (p.Glu26411Asp)
c.69087A>C (p.Glu23029Asp)
2g.178530278T>ACA349406013TTN,TTN-AS1c.98633A>T (p.Glu32878Val)
c.79718A>T (p.Glu26573Val)
c.79517A>T (p.Glu26506Val)
c.79142A>T (p.Glu26381Val)
c.106337A>T (p.Glu35446Val)
c.101414A>T (p.Glu33805Val)
n.446+6642T>A
n.220-5454T>A
c.105434A>T (p.Glu35145Val)
c.79328A>T (p.Glu26443Val)
c.79187A>T (p.Glu26396Val)
c.105230A>T (p.Glu35077Val)
c.100628A>T (p.Glu33543Val)
c.100625A>T (p.Glu33542Val)
c.97667A>T (p.Glu32556Val)
c.79283A>T (p.Glu26428Val)
c.100778A>T (p.Glu33593Val)
c.100775A>T (p.Glu33592Val)
c.100208A>T (p.Glu33403Val)
c.97550A>T (p.Glu32517Val)
c.97469A>T (p.Glu32490Val)
c.79232A>T (p.Glu26411Val)
c.69086A>T (p.Glu23029Val)
2g.178530278T>CCA349406017TTN,TTN-AS1c.98633A>G (p.Glu32878Gly)
c.79718A>G (p.Glu26573Gly)
c.79517A>G (p.Glu26506Gly)
c.79142A>G (p.Glu26381Gly)
c.106337A>G (p.Glu35446Gly)
c.101414A>G (p.Glu33805Gly)
n.446+6642T>C
n.220-5454T>C
c.105434A>G (p.Glu35145Gly)
c.79328A>G (p.Glu26443Gly)
c.79187A>G (p.Glu26396Gly)
c.105230A>G (p.Glu35077Gly)
c.100628A>G (p.Glu33543Gly)
c.100625A>G (p.Glu33542Gly)
c.97667A>G (p.Glu32556Gly)
c.79283A>G (p.Glu26428Gly)
c.100778A>G (p.Glu33593Gly)
c.100775A>G (p.Glu33592Gly)
c.100208A>G (p.Glu33403Gly)
c.97550A>G (p.Glu32517Gly)
c.97469A>G (p.Glu32490Gly)
c.79232A>G (p.Glu26411Gly)
c.69086A>G (p.Glu23029Gly)
2g.178530278T>GCA349406015TTN,TTN-AS1c.98633A>C (p.Glu32878Ala)
c.79718A>C (p.Glu26573Ala)
c.79517A>C (p.Glu26506Ala)
c.79142A>C (p.Glu26381Ala)
c.106337A>C (p.Glu35446Ala)
c.101414A>C (p.Glu33805Ala)
n.446+6642T>G
n.220-5454T>G
c.105434A>C (p.Glu35145Ala)
c.79328A>C (p.Glu26443Ala)
c.79187A>C (p.Glu26396Ala)
c.105230A>C (p.Glu35077Ala)
c.100628A>C (p.Glu33543Ala)
c.100625A>C (p.Glu33542Ala)
c.97667A>C (p.Glu32556Ala)
c.79283A>C (p.Glu26428Ala)
c.100778A>C (p.Glu33593Ala)
c.100775A>C (p.Glu33592Ala)
c.100208A>C (p.Glu33403Ala)
c.97550A>C (p.Glu32517Ala)
c.97469A>C (p.Glu32490Ala)
c.79232A>C (p.Glu26411Ala)
c.69086A>C (p.Glu23029Ala)
2g.178530279C>ACA349406020TTN,TTN-AS1c.98632G>T (p.Glu32878Ter)
c.79717G>T (p.Glu26573Ter)
c.79516G>T (p.Glu26506Ter)
c.79141G>T (p.Glu26381Ter)
c.106336G>T (p.Glu35446Ter)
c.101413G>T (p.Glu33805Ter)
n.446+6643C>A
n.220-5453C>A
c.105433G>T (p.Glu35145Ter)
c.79327G>T (p.Glu26443Ter)
c.79186G>T (p.Glu26396Ter)
c.105229G>T (p.Glu35077Ter)
c.100627G>T (p.Glu33543Ter)
c.100624G>T (p.Glu33542Ter)
c.97666G>T (p.Glu32556Ter)
c.79282G>T (p.Glu26428Ter)
c.100777G>T (p.Glu33593Ter)
c.100774G>T (p.Glu33592Ter)
c.100207G>T (p.Glu33403Ter)
c.97549G>T (p.Glu32517Ter)
c.97468G>T (p.Glu32490Ter)
c.79231G>T (p.Glu26411Ter)
c.69085G>T (p.Glu23029Ter)
2g.178530279C>GCA349406023TTN,TTN-AS1c.98632G>C (p.Glu32878Gln)
c.79717G>C (p.Glu26573Gln)
c.79516G>C (p.Glu26506Gln)
c.79141G>C (p.Glu26381Gln)
c.106336G>C (p.Glu35446Gln)
c.101413G>C (p.Glu33805Gln)
n.446+6643C>G
n.220-5453C>G
c.105433G>C (p.Glu35145Gln)
c.79327G>C (p.Glu26443Gln)
c.79186G>C (p.Glu26396Gln)
c.105229G>C (p.Glu35077Gln)
c.100627G>C (p.Glu33543Gln)
c.100624G>C (p.Glu33542Gln)
c.97666G>C (p.Glu32556Gln)
c.79282G>C (p.Glu26428Gln)
c.100777G>C (p.Glu33593Gln)
c.100774G>C (p.Glu33592Gln)
c.100207G>C (p.Glu33403Gln)
c.97549G>C (p.Glu32517Gln)
c.97468G>C (p.Glu32490Gln)
c.79231G>C (p.Glu26411Gln)
c.69085G>C (p.Glu23029Gln)
2g.178530279C>TCA349406022TTN,TTN-AS1c.98632G>A (p.Glu32878Lys)
c.79717G>A (p.Glu26573Lys)
c.79516G>A (p.Glu26506Lys)
c.79141G>A (p.Glu26381Lys)
c.106336G>A (p.Glu35446Lys)
c.101413G>A (p.Glu33805Lys)
n.446+6643C>T
n.220-5453C>T
c.105433G>A (p.Glu35145Lys)
c.79327G>A (p.Glu26443Lys)
c.79186G>A (p.Glu26396Lys)
c.105229G>A (p.Glu35077Lys)
c.100627G>A (p.Glu33543Lys)
c.100624G>A (p.Glu33542Lys)
c.97666G>A (p.Glu32556Lys)
c.79282G>A (p.Glu26428Lys)
c.100777G>A (p.Glu33593Lys)
c.100774G>A (p.Glu33592Lys)
c.100207G>A (p.Glu33403Lys)
c.97549G>A (p.Glu32517Lys)
c.97468G>A (p.Glu32490Lys)
c.79231G>A (p.Glu26411Lys)
c.69085G>A (p.Glu23029Lys)
2g.178530280T>ACA430235062TTN,TTN-AS1c.98631A>T (p.Gly32877=)
c.79716A>T (p.Gly26572=)
c.79515A>T (p.Gly26505=)
c.79140A>T (p.Gly26380=)
c.106335A>T (p.Gly35445=)
c.101412A>T (p.Gly33804=)
n.446+6644T>A
n.220-5452T>A
c.105432A>T (p.Gly35144=)
c.79326A>T (p.Gly26442=)
c.79185A>T (p.Gly26395=)
c.105228A>T (p.Gly35076=)
c.100626A>T (p.Gly33542=)
c.100623A>T (p.Gly33541=)
c.97665A>T (p.Gly32555=)
c.79281A>T (p.Gly26427=)
c.100776A>T (p.Gly33592=)
c.100773A>T (p.Gly33591=)
c.100206A>T (p.Gly33402=)
c.97548A>T (p.Gly32516=)
c.97467A>T (p.Gly32489=)
c.79230A>T (p.Gly26410=)
c.69084A>T (p.Gly23028=)
2g.178530280T>CCA430235064TTN,TTN-AS1c.98631A>G (p.Gly32877=)
c.79716A>G (p.Gly26572=)
c.79515A>G (p.Gly26505=)
c.79140A>G (p.Gly26380=)
c.106335A>G (p.Gly35445=)
c.101412A>G (p.Gly33804=)
n.446+6644T>C
n.220-5452T>C
c.105432A>G (p.Gly35144=)
c.79326A>G (p.Gly26442=)
c.79185A>G (p.Gly26395=)
c.105228A>G (p.Gly35076=)
c.100626A>G (p.Gly33542=)
c.100623A>G (p.Gly33541=)
c.97665A>G (p.Gly32555=)
c.79281A>G (p.Gly26427=)
c.100776A>G (p.Gly33592=)
c.100773A>G (p.Gly33591=)
c.100206A>G (p.Gly33402=)
c.97548A>G (p.Gly32516=)
c.97467A>G (p.Gly32489=)
c.79230A>G (p.Gly26410=)
c.69084A>G (p.Gly23028=)
2g.178530280T>GCA430235065TTN,TTN-AS1c.98631A>C (p.Gly32877=)
c.79716A>C (p.Gly26572=)
c.79515A>C (p.Gly26505=)
c.79140A>C (p.Gly26380=)
c.106335A>C (p.Gly35445=)
c.101412A>C (p.Gly33804=)
n.446+6644T>G
n.220-5452T>G
c.105432A>C (p.Gly35144=)
c.79326A>C (p.Gly26442=)
c.79185A>C (p.Gly26395=)
c.105228A>C (p.Gly35076=)
c.100626A>C (p.Gly33542=)
c.100623A>C (p.Gly33541=)
c.97665A>C (p.Gly32555=)
c.79281A>C (p.Gly26427=)
c.100776A>C (p.Gly33592=)
c.100773A>C (p.Gly33591=)
c.100206A>C (p.Gly33402=)
c.97548A>C (p.Gly32516=)
c.97467A>C (p.Gly32489=)
c.79230A>C (p.Gly26410=)
c.69084A>C (p.Gly23028=)
2g.178530281C>ACA349406024TTN,TTN-AS1c.98630G>T (p.Gly32877Val)
c.79715G>T (p.Gly26572Val)
c.79514G>T (p.Gly26505Val)
c.79139G>T (p.Gly26380Val)
c.106334G>T (p.Gly35445Val)
c.101411G>T (p.Gly33804Val)
n.446+6645C>A
n.220-5451C>A
c.105431G>T (p.Gly35144Val)
c.79325G>T (p.Gly26442Val)
c.79184G>T (p.Gly26395Val)
c.105227G>T (p.Gly35076Val)
c.100625G>T (p.Gly33542Val)
c.100622G>T (p.Gly33541Val)
c.97664G>T (p.Gly32555Val)
c.79280G>T (p.Gly26427Val)
c.100775G>T (p.Gly33592Val)
c.100772G>T (p.Gly33591Val)
c.100205G>T (p.Gly33402Val)
c.97547G>T (p.Gly32516Val)
c.97466G>T (p.Gly32489Val)
c.79229G>T (p.Gly26410Val)
c.69083G>T (p.Gly23028Val)
2g.178530281C>GCA349406027TTN,TTN-AS1c.98630G>C (p.Gly32877Ala)
c.79715G>C (p.Gly26572Ala)
c.79514G>C (p.Gly26505Ala)
c.79139G>C (p.Gly26380Ala)
c.106334G>C (p.Gly35445Ala)
c.101411G>C (p.Gly33804Ala)
n.446+6645C>G
n.220-5451C>G
c.105431G>C (p.Gly35144Ala)
c.79325G>C (p.Gly26442Ala)
c.79184G>C (p.Gly26395Ala)
c.105227G>C (p.Gly35076Ala)
c.100625G>C (p.Gly33542Ala)
c.100622G>C (p.Gly33541Ala)
c.97664G>C (p.Gly32555Ala)
c.79280G>C (p.Gly26427Ala)
c.100775G>C (p.Gly33592Ala)
c.100772G>C (p.Gly33591Ala)
c.100205G>C (p.Gly33402Ala)
c.97547G>C (p.Gly32516Ala)
c.97466G>C (p.Gly32489Ala)
c.79229G>C (p.Gly26410Ala)
c.69083G>C (p.Gly23028Ala)
2g.178530281C>TCA349406026TTN,TTN-AS1c.98630G>A (p.Gly32877Glu)
c.79715G>A (p.Gly26572Glu)
c.79514G>A (p.Gly26505Glu)
c.79139G>A (p.Gly26380Glu)
c.106334G>A (p.Gly35445Glu)
c.101411G>A (p.Gly33804Glu)
n.446+6645C>T
n.220-5451C>T
c.105431G>A (p.Gly35144Glu)
c.79325G>A (p.Gly26442Glu)
c.79184G>A (p.Gly26395Glu)
c.105227G>A (p.Gly35076Glu)
c.100625G>A (p.Gly33542Glu)
c.100622G>A (p.Gly33541Glu)
c.97664G>A (p.Gly32555Glu)
c.79280G>A (p.Gly26427Glu)
c.100775G>A (p.Gly33592Glu)
c.100772G>A (p.Gly33591Glu)
c.100205G>A (p.Gly33402Glu)
c.97547G>A (p.Gly32516Glu)
c.97466G>A (p.Gly32489Glu)
c.79229G>A (p.Gly26410Glu)
c.69083G>A (p.Gly23028Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530282C>ACA349406030TTN,TTN-AS1c.98629G>T (p.Gly32877Ter)
c.79714G>T (p.Gly26572Ter)
c.79513G>T (p.Gly26505Ter)
c.79138G>T (p.Gly26380Ter)
c.106333G>T (p.Gly35445Ter)
c.101410G>T (p.Gly33804Ter)
n.446+6646C>A
n.220-5450C>A
c.105430G>T (p.Gly35144Ter)
c.79324G>T (p.Gly26442Ter)
c.79183G>T (p.Gly26395Ter)
c.105226G>T (p.Gly35076Ter)
c.100624G>T (p.Gly33542Ter)
c.100621G>T (p.Gly33541Ter)
c.97663G>T (p.Gly32555Ter)
c.79279G>T (p.Gly26427Ter)
c.100774G>T (p.Gly33592Ter)
c.100771G>T (p.Gly33591Ter)
c.100204G>T (p.Gly33402Ter)
c.97546G>T (p.Gly32516Ter)
c.97465G>T (p.Gly32489Ter)
c.79228G>T (p.Gly26410Ter)
c.69082G>T (p.Gly23028Ter)
2g.178530282C>GCA349406034TTN,TTN-AS1c.98629G>C (p.Gly32877Arg)
c.79714G>C (p.Gly26572Arg)
c.79513G>C (p.Gly26505Arg)
c.79138G>C (p.Gly26380Arg)
c.106333G>C (p.Gly35445Arg)
c.101410G>C (p.Gly33804Arg)
n.446+6646C>G
n.220-5450C>G
c.105430G>C (p.Gly35144Arg)
c.79324G>C (p.Gly26442Arg)
c.79183G>C (p.Gly26395Arg)
c.105226G>C (p.Gly35076Arg)
c.100624G>C (p.Gly33542Arg)
c.100621G>C (p.Gly33541Arg)
c.97663G>C (p.Gly32555Arg)
c.79279G>C (p.Gly26427Arg)
c.100774G>C (p.Gly33592Arg)
c.100771G>C (p.Gly33591Arg)
c.100204G>C (p.Gly33402Arg)
c.97546G>C (p.Gly32516Arg)
c.97465G>C (p.Gly32489Arg)
c.79228G>C (p.Gly26410Arg)
c.69082G>C (p.Gly23028Arg)
2g.178530282C>TCA349406032TTN,TTN-AS1c.98629G>A (p.Gly32877Arg)
c.79714G>A (p.Gly26572Arg)
c.79513G>A (p.Gly26505Arg)
c.79138G>A (p.Gly26380Arg)
c.106333G>A (p.Gly35445Arg)
c.101410G>A (p.Gly33804Arg)
n.446+6646C>T
n.220-5450C>T
c.105430G>A (p.Gly35144Arg)
c.79324G>A (p.Gly26442Arg)
c.79183G>A (p.Gly26395Arg)
c.105226G>A (p.Gly35076Arg)
c.100624G>A (p.Gly33542Arg)
c.100621G>A (p.Gly33541Arg)
c.97663G>A (p.Gly32555Arg)
c.79279G>A (p.Gly26427Arg)
c.100774G>A (p.Gly33592Arg)
c.100771G>A (p.Gly33591Arg)
c.100204G>A (p.Gly33402Arg)
c.97546G>A (p.Gly32516Arg)
c.97465G>A (p.Gly32489Arg)
c.79228G>A (p.Gly26410Arg)
c.69082G>A (p.Gly23028Arg)
2g.178530283A>CCA430235067TTN,TTN-AS1c.98628T>G (p.Thr32876=)
c.79713T>G (p.Thr26571=)
c.79512T>G (p.Thr26504=)
c.79137T>G (p.Thr26379=)
c.106332T>G (p.Thr35444=)
c.101409T>G (p.Thr33803=)
n.446+6647A>C
n.220-5449A>C
c.105429T>G (p.Thr35143=)
c.79323T>G (p.Thr26441=)
c.79182T>G (p.Thr26394=)
c.105225T>G (p.Thr35075=)
c.100623T>G (p.Thr33541=)
c.100620T>G (p.Thr33540=)
c.97662T>G (p.Thr32554=)
c.79278T>G (p.Thr26426=)
c.100773T>G (p.Thr33591=)
c.100770T>G (p.Thr33590=)
c.100203T>G (p.Thr33401=)
c.97545T>G (p.Thr32515=)
c.97464T>G (p.Thr32488=)
c.79227T>G (p.Thr26409=)
c.69081T>G (p.Thr23027=)
 gnomAD v4
2g.178530283A>GCA430235068TTN,TTN-AS1c.98628T>C (p.Thr32876=)
c.79713T>C (p.Thr26571=)
c.79512T>C (p.Thr26504=)
c.79137T>C (p.Thr26379=)
c.106332T>C (p.Thr35444=)
c.101409T>C (p.Thr33803=)
n.446+6647A>G
n.220-5449A>G
c.105429T>C (p.Thr35143=)
c.79323T>C (p.Thr26441=)
c.79182T>C (p.Thr26394=)
c.105225T>C (p.Thr35075=)
c.100623T>C (p.Thr33541=)
c.100620T>C (p.Thr33540=)
c.97662T>C (p.Thr32554=)
c.79278T>C (p.Thr26426=)
c.100773T>C (p.Thr33591=)
c.100770T>C (p.Thr33590=)
c.100203T>C (p.Thr33401=)
c.97545T>C (p.Thr32515=)
c.97464T>C (p.Thr32488=)
c.79227T>C (p.Thr26409=)
c.69081T>C (p.Thr23027=)
 dbSNP gnomAD v4
2g.178530283A>TCA430235069TTN,TTN-AS1c.98628T>A (p.Thr32876=)
c.79713T>A (p.Thr26571=)
c.79512T>A (p.Thr26504=)
c.79137T>A (p.Thr26379=)
c.106332T>A (p.Thr35444=)
c.101409T>A (p.Thr33803=)
n.446+6647A>T
n.220-5449A>T
c.105429T>A (p.Thr35143=)
c.79323T>A (p.Thr26441=)
c.79182T>A (p.Thr26394=)
c.105225T>A (p.Thr35075=)
c.100623T>A (p.Thr33541=)
c.100620T>A (p.Thr33540=)
c.97662T>A (p.Thr32554=)
c.79278T>A (p.Thr26426=)
c.100773T>A (p.Thr33591=)
c.100770T>A (p.Thr33590=)
c.100203T>A (p.Thr33401=)
c.97545T>A (p.Thr32515=)
c.97464T>A (p.Thr32488=)
c.79227T>A (p.Thr26409=)
c.69081T>A (p.Thr23027=)
 gnomAD v4
2g.178530283_178530284dupCA2586970733TTN,TTN-AS1c.98627_98628dup (p.Gly32877LeufsTer?)
c.79712_79713dup (p.Gly26572LeufsTer?)
c.79511_79512dup (p.Gly26505LeufsTer?)
c.79136_79137dup (p.Gly26380LeufsTer?)
c.106331_106332dup (p.Gly35445LeufsTer?)
c.101408_101409dup (p.Gly33804LeufsTer?)
n.446+6647_446+6648dup
n.220-5449_220-5448dup
c.105428_105429dup (p.Gly35144LeufsTer?)
c.79322_79323dup (p.Gly26442LeufsTer?)
c.79181_79182dup (p.Gly26395LeufsTer?)
c.105224_105225dup (p.Gly35076LeufsTer?)
c.100622_100623dup (p.Gly33542LeufsTer?)
c.100619_100620dup (p.Gly33541LeufsTer?)
c.97661_97662dup (p.Gly32555LeufsTer?)
c.79277_79278dup (p.Gly26427LeufsTer?)
c.100772_100773dup (p.Gly33592LeufsTer?)
c.100769_100770dup (p.Gly33591LeufsTer?)
c.100202_100203dup (p.Gly33402LeufsTer?)
c.97544_97545dup (p.Gly32516LeufsTer?)
c.97463_97464dup (p.Gly32489LeufsTer?)
c.79226_79227dup (p.Gly26410LeufsTer?)
c.69080_69081dup (p.Gly23028LeufsTer?)
2g.178530284G>ACA349406037TTN,TTN-AS1c.98627C>T (p.Thr32876Ile)
c.79712C>T (p.Thr26571Ile)
c.79511C>T (p.Thr26504Ile)
c.79136C>T (p.Thr26379Ile)
c.106331C>T (p.Thr35444Ile)
c.101408C>T (p.Thr33803Ile)
n.446+6648G>A
n.220-5448G>A
c.105428C>T (p.Thr35143Ile)
c.79322C>T (p.Thr26441Ile)
c.79181C>T (p.Thr26394Ile)
c.105224C>T (p.Thr35075Ile)
c.100622C>T (p.Thr33541Ile)
c.100619C>T (p.Thr33540Ile)
c.97661C>T (p.Thr32554Ile)
c.79277C>T (p.Thr26426Ile)
c.100772C>T (p.Thr33591Ile)
c.100769C>T (p.Thr33590Ile)
c.100202C>T (p.Thr33401Ile)
c.97544C>T (p.Thr32515Ile)
c.97463C>T (p.Thr32488Ile)
c.79226C>T (p.Thr26409Ile)
c.69080C>T (p.Thr23027Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530284G>CCA349406040TTN,TTN-AS1c.98627C>G (p.Thr32876Ser)
c.79712C>G (p.Thr26571Ser)
c.79511C>G (p.Thr26504Ser)
c.79136C>G (p.Thr26379Ser)
c.106331C>G (p.Thr35444Ser)
c.101408C>G (p.Thr33803Ser)
n.446+6648G>C
n.220-5448G>C
c.105428C>G (p.Thr35143Ser)
c.79322C>G (p.Thr26441Ser)
c.79181C>G (p.Thr26394Ser)
c.105224C>G (p.Thr35075Ser)
c.100622C>G (p.Thr33541Ser)
c.100619C>G (p.Thr33540Ser)
c.97661C>G (p.Thr32554Ser)
c.79277C>G (p.Thr26426Ser)
c.100772C>G (p.Thr33591Ser)
c.100769C>G (p.Thr33590Ser)
c.100202C>G (p.Thr33401Ser)
c.97544C>G (p.Thr32515Ser)
c.97463C>G (p.Thr32488Ser)
c.79226C>G (p.Thr26409Ser)
c.69080C>G (p.Thr23027Ser)
2g.178530284G=CA1310511715TTN,TTN-AS1c.98627C= (p.Thr32876=)
c.79712C= (p.Thr26571=)
c.79511C= (p.Thr26504=)
c.79136C= (p.Thr26379=)
c.106331C= (p.Thr35444=)
c.101408C= (p.Thr33803=)
n.446+6648G=
n.220-5448G=
c.105428C= (p.Thr35143=)
c.79322C= (p.Thr26441=)
c.79181C= (p.Thr26394=)
c.105224C= (p.Thr35075=)
c.100622C= (p.Thr33541=)
c.100619C= (p.Thr33540=)
c.97661C= (p.Thr32554=)
c.79277C= (p.Thr26426=)
c.100772C= (p.Thr33591=)
c.100769C= (p.Thr33590=)
c.100202C= (p.Thr33401=)
c.97544C= (p.Thr32515=)
c.97463C= (p.Thr32488=)
c.79226C= (p.Thr26409=)
c.69080C= (p.Thr23027=)
2g.178530284G>TCA349406042TTN,TTN-AS1c.98627C>A (p.Thr32876Asn)
c.79712C>A (p.Thr26571Asn)
c.79511C>A (p.Thr26504Asn)
c.79136C>A (p.Thr26379Asn)
c.106331C>A (p.Thr35444Asn)
c.101408C>A (p.Thr33803Asn)
n.446+6648G>T
n.220-5448G>T
c.105428C>A (p.Thr35143Asn)
c.79322C>A (p.Thr26441Asn)
c.79181C>A (p.Thr26394Asn)
c.105224C>A (p.Thr35075Asn)
c.100622C>A (p.Thr33541Asn)
c.100619C>A (p.Thr33540Asn)
c.97661C>A (p.Thr32554Asn)
c.79277C>A (p.Thr26426Asn)
c.100772C>A (p.Thr33591Asn)
c.100769C>A (p.Thr33590Asn)
c.100202C>A (p.Thr33401Asn)
c.97544C>A (p.Thr32515Asn)
c.97463C>A (p.Thr32488Asn)
c.79226C>A (p.Thr26409Asn)
c.69080C>A (p.Thr23027Asn)
2g.178530285T>ACA349406045TTN,TTN-AS1c.98626A>T (p.Thr32876Ser)
c.79711A>T (p.Thr26571Ser)
c.79510A>T (p.Thr26504Ser)
c.79135A>T (p.Thr26379Ser)
c.106330A>T (p.Thr35444Ser)
c.101407A>T (p.Thr33803Ser)
n.446+6649T>A
n.220-5447T>A
c.105427A>T (p.Thr35143Ser)
c.79321A>T (p.Thr26441Ser)
c.79180A>T (p.Thr26394Ser)
c.105223A>T (p.Thr35075Ser)
c.100621A>T (p.Thr33541Ser)
c.100618A>T (p.Thr33540Ser)
c.97660A>T (p.Thr32554Ser)
c.79276A>T (p.Thr26426Ser)
c.100771A>T (p.Thr33591Ser)
c.100768A>T (p.Thr33590Ser)
c.100201A>T (p.Thr33401Ser)
c.97543A>T (p.Thr32515Ser)
c.97462A>T (p.Thr32488Ser)
c.79225A>T (p.Thr26409Ser)
c.69079A>T (p.Thr23027Ser)
 ClinVar dbSNP
2g.178530285T>CCA349406047TTN,TTN-AS1c.98626A>G (p.Thr32876Ala)
c.79711A>G (p.Thr26571Ala)
c.79510A>G (p.Thr26504Ala)
c.79135A>G (p.Thr26379Ala)
c.106330A>G (p.Thr35444Ala)
c.101407A>G (p.Thr33803Ala)
n.446+6649T>C
n.220-5447T>C
c.105427A>G (p.Thr35143Ala)
c.79321A>G (p.Thr26441Ala)
c.79180A>G (p.Thr26394Ala)
c.105223A>G (p.Thr35075Ala)
c.100621A>G (p.Thr33541Ala)
c.100618A>G (p.Thr33540Ala)
c.97660A>G (p.Thr32554Ala)
c.79276A>G (p.Thr26426Ala)
c.100771A>G (p.Thr33591Ala)
c.100768A>G (p.Thr33590Ala)
c.100201A>G (p.Thr33401Ala)
c.97543A>G (p.Thr32515Ala)
c.97462A>G (p.Thr32488Ala)
c.79225A>G (p.Thr26409Ala)
c.69079A>G (p.Thr23027Ala)
 ClinVar dbSNP gnomAD v4
2g.178530285T>GCA349406050TTN,TTN-AS1c.98626A>C (p.Thr32876Pro)
c.79711A>C (p.Thr26571Pro)
c.79510A>C (p.Thr26504Pro)
c.79135A>C (p.Thr26379Pro)
c.106330A>C (p.Thr35444Pro)
c.101407A>C (p.Thr33803Pro)
n.446+6649T>G
n.220-5447T>G
c.105427A>C (p.Thr35143Pro)
c.79321A>C (p.Thr26441Pro)
c.79180A>C (p.Thr26394Pro)
c.105223A>C (p.Thr35075Pro)
c.100621A>C (p.Thr33541Pro)
c.100618A>C (p.Thr33540Pro)
c.97660A>C (p.Thr32554Pro)
c.79276A>C (p.Thr26426Pro)
c.100771A>C (p.Thr33591Pro)
c.100768A>C (p.Thr33590Pro)
c.100201A>C (p.Thr33401Pro)
c.97543A>C (p.Thr32515Pro)
c.97462A>C (p.Thr32488Pro)
c.79225A>C (p.Thr26409Pro)
c.69079A>C (p.Thr23027Pro)
 gnomAD v4
2g.178530285T=CA1310511717TTN,TTN-AS1c.98626A= (p.Thr32876=)
c.79711A= (p.Thr26571=)
c.79510A= (p.Thr26504=)
c.79135A= (p.Thr26379=)
c.106330A= (p.Thr35444=)
c.101407A= (p.Thr33803=)
n.446+6649T=
n.220-5447T=
c.105427A= (p.Thr35143=)
c.79321A= (p.Thr26441=)
c.79180A= (p.Thr26394=)
c.105223A= (p.Thr35075=)
c.100621A= (p.Thr33541=)
c.100618A= (p.Thr33540=)
c.97660A= (p.Thr32554=)
c.79276A= (p.Thr26426=)
c.100771A= (p.Thr33591=)
c.100768A= (p.Thr33590=)
c.100201A= (p.Thr33401=)
c.97543A= (p.Thr32515=)
c.97462A= (p.Thr32488=)
c.79225A= (p.Thr26409=)
c.69079A= (p.Thr23027=)
2g.178530286A>CCA430235072TTN,TTN-AS1c.98625T>G (p.Ala32875=)
c.79710T>G (p.Ala26570=)
c.79509T>G (p.Ala26503=)
c.79134T>G (p.Ala26378=)
c.106329T>G (p.Ala35443=)
c.101406T>G (p.Ala33802=)
n.446+6650A>C
n.220-5446A>C
c.105426T>G (p.Ala35142=)
c.79320T>G (p.Ala26440=)
c.79179T>G (p.Ala26393=)
c.105222T>G (p.Ala35074=)
c.100620T>G (p.Ala33540=)
c.100617T>G (p.Ala33539=)
c.97659T>G (p.Ala32553=)
c.79275T>G (p.Ala26425=)
c.100770T>G (p.Ala33590=)
c.100767T>G (p.Ala33589=)
c.100200T>G (p.Ala33400=)
c.97542T>G (p.Ala32514=)
c.97461T>G (p.Ala32487=)
c.79224T>G (p.Ala26408=)
c.69078T>G (p.Ala23026=)
2g.178530286A>GCA430235073TTN,TTN-AS1c.98625T>C (p.Ala32875=)
c.79710T>C (p.Ala26570=)
c.79509T>C (p.Ala26503=)
c.79134T>C (p.Ala26378=)
c.106329T>C (p.Ala35443=)
c.101406T>C (p.Ala33802=)
n.446+6650A>G
n.220-5446A>G
c.105426T>C (p.Ala35142=)
c.79320T>C (p.Ala26440=)
c.79179T>C (p.Ala26393=)
c.105222T>C (p.Ala35074=)
c.100620T>C (p.Ala33540=)
c.100617T>C (p.Ala33539=)
c.97659T>C (p.Ala32553=)
c.79275T>C (p.Ala26425=)
c.100770T>C (p.Ala33590=)
c.100767T>C (p.Ala33589=)
c.100200T>C (p.Ala33400=)
c.97542T>C (p.Ala32514=)
c.97461T>C (p.Ala32487=)
c.79224T>C (p.Ala26408=)
c.69078T>C (p.Ala23026=)
2g.178530286A>TCA430235074TTN,TTN-AS1c.98625T>A (p.Ala32875=)
c.79710T>A (p.Ala26570=)
c.79509T>A (p.Ala26503=)
c.79134T>A (p.Ala26378=)
c.106329T>A (p.Ala35443=)
c.101406T>A (p.Ala33802=)
n.446+6650A>T
n.220-5446A>T
c.105426T>A (p.Ala35142=)
c.79320T>A (p.Ala26440=)
c.79179T>A (p.Ala26393=)
c.105222T>A (p.Ala35074=)
c.100620T>A (p.Ala33540=)
c.100617T>A (p.Ala33539=)
c.97659T>A (p.Ala32553=)
c.79275T>A (p.Ala26425=)
c.100770T>A (p.Ala33590=)
c.100767T>A (p.Ala33589=)
c.100200T>A (p.Ala33400=)
c.97542T>A (p.Ala32514=)
c.97461T>A (p.Ala32487=)
c.79224T>A (p.Ala26408=)
c.69078T>A (p.Ala23026=)
2g.178530287G>ACA349406053TTN,TTN-AS1c.98624C>T (p.Ala32875Val)
c.79709C>T (p.Ala26570Val)
c.79508C>T (p.Ala26503Val)
c.79133C>T (p.Ala26378Val)
c.106328C>T (p.Ala35443Val)
c.101405C>T (p.Ala33802Val)
n.446+6651G>A
n.220-5445G>A
c.105425C>T (p.Ala35142Val)
c.79319C>T (p.Ala26440Val)
c.79178C>T (p.Ala26393Val)
c.105221C>T (p.Ala35074Val)
c.100619C>T (p.Ala33540Val)
c.100616C>T (p.Ala33539Val)
c.97658C>T (p.Ala32553Val)
c.79274C>T (p.Ala26425Val)
c.100769C>T (p.Ala33590Val)
c.100766C>T (p.Ala33589Val)
c.100199C>T (p.Ala33400Val)
c.97541C>T (p.Ala32514Val)
c.97460C>T (p.Ala32487Val)
c.79223C>T (p.Ala26408Val)
c.69077C>T (p.Ala23026Val)
2g.178530287G>CCA349406055TTN,TTN-AS1c.98624C>G (p.Ala32875Gly)
c.79709C>G (p.Ala26570Gly)
c.79508C>G (p.Ala26503Gly)
c.79133C>G (p.Ala26378Gly)
c.106328C>G (p.Ala35443Gly)
c.101405C>G (p.Ala33802Gly)
n.446+6651G>C
n.220-5445G>C
c.105425C>G (p.Ala35142Gly)
c.79319C>G (p.Ala26440Gly)
c.79178C>G (p.Ala26393Gly)
c.105221C>G (p.Ala35074Gly)
c.100619C>G (p.Ala33540Gly)
c.100616C>G (p.Ala33539Gly)
c.97658C>G (p.Ala32553Gly)
c.79274C>G (p.Ala26425Gly)
c.100769C>G (p.Ala33590Gly)
c.100766C>G (p.Ala33589Gly)
c.100199C>G (p.Ala33400Gly)
c.97541C>G (p.Ala32514Gly)
c.97460C>G (p.Ala32487Gly)
c.79223C>G (p.Ala26408Gly)
c.69077C>G (p.Ala23026Gly)
 gnomAD v4
2g.178530287G>TCA349406057TTN,TTN-AS1c.98624C>A (p.Ala32875Asp)
c.79709C>A (p.Ala26570Asp)
c.79508C>A (p.Ala26503Asp)
c.79133C>A (p.Ala26378Asp)
c.106328C>A (p.Ala35443Asp)
c.101405C>A (p.Ala33802Asp)
n.446+6651G>T
n.220-5445G>T
c.105425C>A (p.Ala35142Asp)
c.79319C>A (p.Ala26440Asp)
c.79178C>A (p.Ala26393Asp)
c.105221C>A (p.Ala35074Asp)
c.100619C>A (p.Ala33540Asp)
c.100616C>A (p.Ala33539Asp)
c.97658C>A (p.Ala32553Asp)
c.79274C>A (p.Ala26425Asp)
c.100769C>A (p.Ala33590Asp)
c.100766C>A (p.Ala33589Asp)
c.100199C>A (p.Ala33400Asp)
c.97541C>A (p.Ala32514Asp)
c.97460C>A (p.Ala32487Asp)
c.79223C>A (p.Ala26408Asp)
c.69077C>A (p.Ala23026Asp)
2g.178530288C>ACA349406067TTN,TTN-AS1c.98623G>T (p.Ala32875Ser)
c.79708G>T (p.Ala26570Ser)
c.79507G>T (p.Ala26503Ser)
c.79132G>T (p.Ala26378Ser)
c.106327G>T (p.Ala35443Ser)
c.101404G>T (p.Ala33802Ser)
n.446+6652C>A
n.220-5444C>A
c.105424G>T (p.Ala35142Ser)
c.79318G>T (p.Ala26440Ser)
c.79177G>T (p.Ala26393Ser)
c.105220G>T (p.Ala35074Ser)
c.100618G>T (p.Ala33540Ser)
c.100615G>T (p.Ala33539Ser)
c.97657G>T (p.Ala32553Ser)
c.79273G>T (p.Ala26425Ser)
c.100768G>T (p.Ala33590Ser)
c.100765G>T (p.Ala33589Ser)
c.100198G>T (p.Ala33400Ser)
c.97540G>T (p.Ala32514Ser)
c.97459G>T (p.Ala32487Ser)
c.79222G>T (p.Ala26408Ser)
c.69076G>T (p.Ala23026Ser)
2g.178530288C=CA1310511725TTN,TTN-AS1c.98623G= (p.Ala32875=)
c.79708G= (p.Ala26570=)
c.79507G= (p.Ala26503=)
c.79132G= (p.Ala26378=)
c.106327G= (p.Ala35443=)
c.101404G= (p.Ala33802=)
n.446+6652C=
n.220-5444C=
c.105424G= (p.Ala35142=)
c.79318G= (p.Ala26440=)
c.79177G= (p.Ala26393=)
c.105220G= (p.Ala35074=)
c.100618G= (p.Ala33540=)
c.100615G= (p.Ala33539=)
c.97657G= (p.Ala32553=)
c.79273G= (p.Ala26425=)
c.100768G= (p.Ala33590=)
c.100765G= (p.Ala33589=)
c.100198G= (p.Ala33400=)
c.97540G= (p.Ala32514=)
c.97459G= (p.Ala32487=)
c.79222G= (p.Ala26408=)
c.69076G= (p.Ala23026=)
2g.178530288C>GCA349406063TTN,TTN-AS1c.98623G>C (p.Ala32875Pro)
c.79708G>C (p.Ala26570Pro)
c.79507G>C (p.Ala26503Pro)
c.79132G>C (p.Ala26378Pro)
c.106327G>C (p.Ala35443Pro)
c.101404G>C (p.Ala33802Pro)
n.446+6652C>G
n.220-5444C>G
c.105424G>C (p.Ala35142Pro)
c.79318G>C (p.Ala26440Pro)
c.79177G>C (p.Ala26393Pro)
c.105220G>C (p.Ala35074Pro)
c.100618G>C (p.Ala33540Pro)
c.100615G>C (p.Ala33539Pro)
c.97657G>C (p.Ala32553Pro)
c.79273G>C (p.Ala26425Pro)
c.100768G>C (p.Ala33590Pro)
c.100765G>C (p.Ala33589Pro)
c.100198G>C (p.Ala33400Pro)
c.97540G>C (p.Ala32514Pro)
c.97459G>C (p.Ala32487Pro)
c.79222G>C (p.Ala26408Pro)
c.69076G>C (p.Ala23026Pro)
2g.178530288C>TCA349406061TTN,TTN-AS1c.98623G>A (p.Ala32875Thr)
c.79708G>A (p.Ala26570Thr)
c.79507G>A (p.Ala26503Thr)
c.79132G>A (p.Ala26378Thr)
c.106327G>A (p.Ala35443Thr)
c.101404G>A (p.Ala33802Thr)
n.446+6652C>T
n.220-5444C>T
c.105424G>A (p.Ala35142Thr)
c.79318G>A (p.Ala26440Thr)
c.79177G>A (p.Ala26393Thr)
c.105220G>A (p.Ala35074Thr)
c.100618G>A (p.Ala33540Thr)
c.100615G>A (p.Ala33539Thr)
c.97657G>A (p.Ala32553Thr)
c.79273G>A (p.Ala26425Thr)
c.100768G>A (p.Ala33590Thr)
c.100765G>A (p.Ala33589Thr)
c.100198G>A (p.Ala33400Thr)
c.97540G>A (p.Ala32514Thr)
c.97459G>A (p.Ala32487Thr)
c.79222G>A (p.Ala26408Thr)
c.69076G>A (p.Ala23026Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530289C>ACA349406070TTN,TTN-AS1c.98622G>T (p.Lys32874Asn)
c.79707G>T (p.Lys26569Asn)
c.79506G>T (p.Lys26502Asn)
c.79131G>T (p.Lys26377Asn)
c.106326G>T (p.Lys35442Asn)
c.101403G>T (p.Lys33801Asn)
n.446+6653C>A
n.220-5443C>A
c.105423G>T (p.Lys35141Asn)
c.79317G>T (p.Lys26439Asn)
c.79176G>T (p.Lys26392Asn)
c.105219G>T (p.Lys35073Asn)
c.100617G>T (p.Lys33539Asn)
c.100614G>T (p.Lys33538Asn)
c.97656G>T (p.Lys32552Asn)
c.79272G>T (p.Lys26424Asn)
c.100767G>T (p.Lys33589Asn)
c.100764G>T (p.Lys33588Asn)
c.100197G>T (p.Lys33399Asn)
c.97539G>T (p.Lys32513Asn)
c.97458G>T (p.Lys32486Asn)
c.79221G>T (p.Lys26407Asn)
c.69075G>T (p.Lys23025Asn)
2g.178530289C=CA1310511727TTN,TTN-AS1c.98622G= (p.Lys32874=)
c.79707G= (p.Lys26569=)
c.79506G= (p.Lys26502=)
c.79131G= (p.Lys26377=)
c.106326G= (p.Lys35442=)
c.101403G= (p.Lys33801=)
n.446+6653C=
n.220-5443C=
c.105423G= (p.Lys35141=)
c.79317G= (p.Lys26439=)
c.79176G= (p.Lys26392=)
c.105219G= (p.Lys35073=)
c.100617G= (p.Lys33539=)
c.100614G= (p.Lys33538=)
c.97656G= (p.Lys32552=)
c.79272G= (p.Lys26424=)
c.100767G= (p.Lys33589=)
c.100764G= (p.Lys33588=)
c.100197G= (p.Lys33399=)
c.97539G= (p.Lys32513=)
c.97458G= (p.Lys32486=)
c.79221G= (p.Lys26407=)
c.69075G= (p.Lys23025=)
2g.178530289C>GCA349406071TTN,TTN-AS1c.98622G>C (p.Lys32874Asn)
c.79707G>C (p.Lys26569Asn)
c.79506G>C (p.Lys26502Asn)
c.79131G>C (p.Lys26377Asn)
c.106326G>C (p.Lys35442Asn)
c.101403G>C (p.Lys33801Asn)
n.446+6653C>G
n.220-5443C>G
c.105423G>C (p.Lys35141Asn)
c.79317G>C (p.Lys26439Asn)
c.79176G>C (p.Lys26392Asn)
c.105219G>C (p.Lys35073Asn)
c.100617G>C (p.Lys33539Asn)
c.100614G>C (p.Lys33538Asn)
c.97656G>C (p.Lys32552Asn)
c.79272G>C (p.Lys26424Asn)
c.100767G>C (p.Lys33589Asn)
c.100764G>C (p.Lys33588Asn)
c.100197G>C (p.Lys33399Asn)
c.97539G>C (p.Lys32513Asn)
c.97458G>C (p.Lys32486Asn)
c.79221G>C (p.Lys26407Asn)
c.69075G>C (p.Lys23025Asn)
2g.178530289C>TCA430235079TTN,TTN-AS1c.98622G>A (p.Lys32874=)
c.79707G>A (p.Lys26569=)
c.79506G>A (p.Lys26502=)
c.79131G>A (p.Lys26377=)
c.106326G>A (p.Lys35442=)
c.101403G>A (p.Lys33801=)
n.446+6653C>T
n.220-5443C>T
c.105423G>A (p.Lys35141=)
c.79317G>A (p.Lys26439=)
c.79176G>A (p.Lys26392=)
c.105219G>A (p.Lys35073=)
c.100617G>A (p.Lys33539=)
c.100614G>A (p.Lys33538=)
c.97656G>A (p.Lys32552=)
c.79272G>A (p.Lys26424=)
c.100767G>A (p.Lys33589=)
c.100764G>A (p.Lys33588=)
c.100197G>A (p.Lys33399=)
c.97539G>A (p.Lys32513=)
c.97458G>A (p.Lys32486=)
c.79221G>A (p.Lys26407=)
c.69075G>A (p.Lys23025=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530290T>ACA349406073TTN,TTN-AS1c.98621A>T (p.Lys32874Met)
c.79706A>T (p.Lys26569Met)
c.79505A>T (p.Lys26502Met)
c.79130A>T (p.Lys26377Met)
c.106325A>T (p.Lys35442Met)
c.101402A>T (p.Lys33801Met)
n.446+6654T>A
n.220-5442T>A
c.105422A>T (p.Lys35141Met)
c.79316A>T (p.Lys26439Met)
c.79175A>T (p.Lys26392Met)
c.105218A>T (p.Lys35073Met)
c.100616A>T (p.Lys33539Met)
c.100613A>T (p.Lys33538Met)
c.97655A>T (p.Lys32552Met)
c.79271A>T (p.Lys26424Met)
c.100766A>T (p.Lys33589Met)
c.100763A>T (p.Lys33588Met)
c.100196A>T (p.Lys33399Met)
c.97538A>T (p.Lys32513Met)
c.97457A>T (p.Lys32486Met)
c.79220A>T (p.Lys26407Met)
c.69074A>T (p.Lys23025Met)
2g.178530290T>CCA349406075TTN,TTN-AS1c.98621A>G (p.Lys32874Arg)
c.79706A>G (p.Lys26569Arg)
c.79505A>G (p.Lys26502Arg)
c.79130A>G (p.Lys26377Arg)
c.106325A>G (p.Lys35442Arg)
c.101402A>G (p.Lys33801Arg)
n.446+6654T>C
n.220-5442T>C
c.105422A>G (p.Lys35141Arg)
c.79316A>G (p.Lys26439Arg)
c.79175A>G (p.Lys26392Arg)
c.105218A>G (p.Lys35073Arg)
c.100616A>G (p.Lys33539Arg)
c.100613A>G (p.Lys33538Arg)
c.97655A>G (p.Lys32552Arg)
c.79271A>G (p.Lys26424Arg)
c.100766A>G (p.Lys33589Arg)
c.100763A>G (p.Lys33588Arg)
c.100196A>G (p.Lys33399Arg)
c.97538A>G (p.Lys32513Arg)
c.97457A>G (p.Lys32486Arg)
c.79220A>G (p.Lys26407Arg)
c.69074A>G (p.Lys23025Arg)
 ClinVar dbSNP gnomAD v4
2g.178530290T>GCA349406078TTN,TTN-AS1c.98621A>C (p.Lys32874Thr)
c.79706A>C (p.Lys26569Thr)
c.79505A>C (p.Lys26502Thr)
c.79130A>C (p.Lys26377Thr)
c.106325A>C (p.Lys35442Thr)
c.101402A>C (p.Lys33801Thr)
n.446+6654T>G
n.220-5442T>G
c.105422A>C (p.Lys35141Thr)
c.79316A>C (p.Lys26439Thr)
c.79175A>C (p.Lys26392Thr)
c.105218A>C (p.Lys35073Thr)
c.100616A>C (p.Lys33539Thr)
c.100613A>C (p.Lys33538Thr)
c.97655A>C (p.Lys32552Thr)
c.79271A>C (p.Lys26424Thr)
c.100766A>C (p.Lys33589Thr)
c.100763A>C (p.Lys33588Thr)
c.100196A>C (p.Lys33399Thr)
c.97538A>C (p.Lys32513Thr)
c.97457A>C (p.Lys32486Thr)
c.79220A>C (p.Lys26407Thr)
c.69074A>C (p.Lys23025Thr)
2g.178530290T=CA1310511731TTN,TTN-AS1c.98621A= (p.Lys32874=)
c.79706A= (p.Lys26569=)
c.79505A= (p.Lys26502=)
c.79130A= (p.Lys26377=)
c.106325A= (p.Lys35442=)
c.101402A= (p.Lys33801=)
n.446+6654T=
n.220-5442T=
c.105422A= (p.Lys35141=)
c.79316A= (p.Lys26439=)
c.79175A= (p.Lys26392=)
c.105218A= (p.Lys35073=)
c.100616A= (p.Lys33539=)
c.100613A= (p.Lys33538=)
c.97655A= (p.Lys32552=)
c.79271A= (p.Lys26424=)
c.100766A= (p.Lys33589=)
c.100763A= (p.Lys33588=)
c.100196A= (p.Lys33399=)
c.97538A= (p.Lys32513=)
c.97457A= (p.Lys32486=)
c.79220A= (p.Lys26407=)
c.69074A= (p.Lys23025=)
2g.178530291T>ACA349406092TTN,TTN-AS1c.98620A>T (p.Lys32874Ter)
c.79705A>T (p.Lys26569Ter)
c.79504A>T (p.Lys26502Ter)
c.79129A>T (p.Lys26377Ter)
c.106324A>T (p.Lys35442Ter)
c.101401A>T (p.Lys33801Ter)
n.446+6655T>A
n.220-5441T>A
c.105421A>T (p.Lys35141Ter)
c.79315A>T (p.Lys26439Ter)
c.79174A>T (p.Lys26392Ter)
c.105217A>T (p.Lys35073Ter)
c.100615A>T (p.Lys33539Ter)
c.100612A>T (p.Lys33538Ter)
c.97654A>T (p.Lys32552Ter)
c.79270A>T (p.Lys26424Ter)
c.100765A>T (p.Lys33589Ter)
c.100762A>T (p.Lys33588Ter)
c.100195A>T (p.Lys33399Ter)
c.97537A>T (p.Lys32513Ter)
c.97456A>T (p.Lys32486Ter)
c.79219A>T (p.Lys26407Ter)
c.69073A>T (p.Lys23025Ter)
2g.178530291T>CCA349406095TTN,TTN-AS1c.98620A>G (p.Lys32874Glu)
c.79705A>G (p.Lys26569Glu)
c.79504A>G (p.Lys26502Glu)
c.79129A>G (p.Lys26377Glu)
c.106324A>G (p.Lys35442Glu)
c.101401A>G (p.Lys33801Glu)
n.446+6655T>C
n.220-5441T>C
c.105421A>G (p.Lys35141Glu)
c.79315A>G (p.Lys26439Glu)
c.79174A>G (p.Lys26392Glu)
c.105217A>G (p.Lys35073Glu)
c.100615A>G (p.Lys33539Glu)
c.100612A>G (p.Lys33538Glu)
c.97654A>G (p.Lys32552Glu)
c.79270A>G (p.Lys26424Glu)
c.100765A>G (p.Lys33589Glu)
c.100762A>G (p.Lys33588Glu)
c.100195A>G (p.Lys33399Glu)
c.97537A>G (p.Lys32513Glu)
c.97456A>G (p.Lys32486Glu)
c.79219A>G (p.Lys26407Glu)
c.69073A>G (p.Lys23025Glu)
 gnomAD v4
2g.178530291T>GCA349406097TTN,TTN-AS1c.98620A>C (p.Lys32874Gln)
c.79705A>C (p.Lys26569Gln)
c.79504A>C (p.Lys26502Gln)
c.79129A>C (p.Lys26377Gln)
c.106324A>C (p.Lys35442Gln)
c.101401A>C (p.Lys33801Gln)
n.446+6655T>G
n.220-5441T>G
c.105421A>C (p.Lys35141Gln)
c.79315A>C (p.Lys26439Gln)
c.79174A>C (p.Lys26392Gln)
c.105217A>C (p.Lys35073Gln)
c.100615A>C (p.Lys33539Gln)
c.100612A>C (p.Lys33538Gln)
c.97654A>C (p.Lys32552Gln)
c.79270A>C (p.Lys26424Gln)
c.100765A>C (p.Lys33589Gln)
c.100762A>C (p.Lys33588Gln)
c.100195A>C (p.Lys33399Gln)
c.97537A>C (p.Lys32513Gln)
c.97456A>C (p.Lys32486Gln)
c.79219A>C (p.Lys26407Gln)
c.69073A>C (p.Lys23025Gln)
2g.178530292A>CCA430235081TTN,TTN-AS1c.98619T>G (p.Val32873=)
c.79704T>G (p.Val26568=)
c.79503T>G (p.Val26501=)
c.79128T>G (p.Val26376=)
c.106323T>G (p.Val35441=)
c.101400T>G (p.Val33800=)
n.446+6656A>C
n.220-5440A>C
c.105420T>G (p.Val35140=)
c.79314T>G (p.Val26438=)
c.79173T>G (p.Val26391=)
c.105216T>G (p.Val35072=)
c.100614T>G (p.Val33538=)
c.100611T>G (p.Val33537=)
c.97653T>G (p.Val32551=)
c.79269T>G (p.Val26423=)
c.100764T>G (p.Val33588=)
c.100761T>G (p.Val33587=)
c.100194T>G (p.Val33398=)
c.97536T>G (p.Val32512=)
c.97455T>G (p.Val32485=)
c.79218T>G (p.Val26406=)
c.69072T>G (p.Val23024=)
2g.178530292A>GCA430235082TTN,TTN-AS1c.98619T>C (p.Val32873=)
c.79704T>C (p.Val26568=)
c.79503T>C (p.Val26501=)
c.79128T>C (p.Val26376=)
c.106323T>C (p.Val35441=)
c.101400T>C (p.Val33800=)
n.446+6656A>G
n.220-5440A>G
c.105420T>C (p.Val35140=)
c.79314T>C (p.Val26438=)
c.79173T>C (p.Val26391=)
c.105216T>C (p.Val35072=)
c.100614T>C (p.Val33538=)
c.100611T>C (p.Val33537=)
c.97653T>C (p.Val32551=)
c.79269T>C (p.Val26423=)
c.100764T>C (p.Val33588=)
c.100761T>C (p.Val33587=)
c.100194T>C (p.Val33398=)
c.97536T>C (p.Val32512=)
c.97455T>C (p.Val32485=)
c.79218T>C (p.Val26406=)
c.69072T>C (p.Val23024=)
 gnomAD v4
2g.178530292A>TCA430235083TTN,TTN-AS1c.98619T>A (p.Val32873=)
c.79704T>A (p.Val26568=)
c.79503T>A (p.Val26501=)
c.79128T>A (p.Val26376=)
c.106323T>A (p.Val35441=)
c.101400T>A (p.Val33800=)
n.446+6656A>T
n.220-5440A>T
c.105420T>A (p.Val35140=)
c.79314T>A (p.Val26438=)
c.79173T>A (p.Val26391=)
c.105216T>A (p.Val35072=)
c.100614T>A (p.Val33538=)
c.100611T>A (p.Val33537=)
c.97653T>A (p.Val32551=)
c.79269T>A (p.Val26423=)
c.100764T>A (p.Val33588=)
c.100761T>A (p.Val33587=)
c.100194T>A (p.Val33398=)
c.97536T>A (p.Val32512=)
c.97455T>A (p.Val32485=)
c.79218T>A (p.Val26406=)
c.69072T>A (p.Val23024=)
2g.178530293A>CCA349406098TTN,TTN-AS1c.98618T>G (p.Val32873Gly)
c.79703T>G (p.Val26568Gly)
c.79502T>G (p.Val26501Gly)
c.79127T>G (p.Val26376Gly)
c.106322T>G (p.Val35441Gly)
c.101399T>G (p.Val33800Gly)
n.446+6657A>C
n.220-5439A>C
c.105419T>G (p.Val35140Gly)
c.79313T>G (p.Val26438Gly)
c.79172T>G (p.Val26391Gly)
c.105215T>G (p.Val35072Gly)
c.100613T>G (p.Val33538Gly)
c.100610T>G (p.Val33537Gly)
c.97652T>G (p.Val32551Gly)
c.79268T>G (p.Val26423Gly)
c.100763T>G (p.Val33588Gly)
c.100760T>G (p.Val33587Gly)
c.100193T>G (p.Val33398Gly)
c.97535T>G (p.Val32512Gly)
c.97454T>G (p.Val32485Gly)
c.79217T>G (p.Val26406Gly)
c.69071T>G (p.Val23024Gly)
2g.178530293A>GCA349406101TTN,TTN-AS1c.98618T>C (p.Val32873Ala)
c.79703T>C (p.Val26568Ala)
c.79502T>C (p.Val26501Ala)
c.79127T>C (p.Val26376Ala)
c.106322T>C (p.Val35441Ala)
c.101399T>C (p.Val33800Ala)
n.446+6657A>G
n.220-5439A>G
c.105419T>C (p.Val35140Ala)
c.79313T>C (p.Val26438Ala)
c.79172T>C (p.Val26391Ala)
c.105215T>C (p.Val35072Ala)
c.100613T>C (p.Val33538Ala)
c.100610T>C (p.Val33537Ala)
c.97652T>C (p.Val32551Ala)
c.79268T>C (p.Val26423Ala)
c.100763T>C (p.Val33588Ala)
c.100760T>C (p.Val33587Ala)
c.100193T>C (p.Val33398Ala)
c.97535T>C (p.Val32512Ala)
c.97454T>C (p.Val32485Ala)
c.79217T>C (p.Val26406Ala)
c.69071T>C (p.Val23024Ala)
2g.178530293A>TCA349406102TTN,TTN-AS1c.98618T>A (p.Val32873Asp)
c.79703T>A (p.Val26568Asp)
c.79502T>A (p.Val26501Asp)
c.79127T>A (p.Val26376Asp)
c.106322T>A (p.Val35441Asp)
c.101399T>A (p.Val33800Asp)
n.446+6657A>T
n.220-5439A>T
c.105419T>A (p.Val35140Asp)
c.79313T>A (p.Val26438Asp)
c.79172T>A (p.Val26391Asp)
c.105215T>A (p.Val35072Asp)
c.100613T>A (p.Val33538Asp)
c.100610T>A (p.Val33537Asp)
c.97652T>A (p.Val32551Asp)
c.79268T>A (p.Val26423Asp)
c.100763T>A (p.Val33588Asp)
c.100760T>A (p.Val33587Asp)
c.100193T>A (p.Val33398Asp)
c.97535T>A (p.Val32512Asp)
c.97454T>A (p.Val32485Asp)
c.79217T>A (p.Val26406Asp)
c.69071T>A (p.Val23024Asp)
2g.178530294C>ACA349406109TTN,TTN-AS1c.98617G>T (p.Val32873Phe)
c.79702G>T (p.Val26568Phe)
c.79501G>T (p.Val26501Phe)
c.79126G>T (p.Val26376Phe)
c.106321G>T (p.Val35441Phe)
c.101398G>T (p.Val33800Phe)
n.446+6658C>A
n.220-5438C>A
c.105418G>T (p.Val35140Phe)
c.79312G>T (p.Val26438Phe)
c.79171G>T (p.Val26391Phe)
c.105214G>T (p.Val35072Phe)
c.100612G>T (p.Val33538Phe)
c.100609G>T (p.Val33537Phe)
c.97651G>T (p.Val32551Phe)
c.79267G>T (p.Val26423Phe)
c.100762G>T (p.Val33588Phe)
c.100759G>T (p.Val33587Phe)
c.100192G>T (p.Val33398Phe)
c.97534G>T (p.Val32512Phe)
c.97453G>T (p.Val32485Phe)
c.79216G>T (p.Val26406Phe)
c.69070G>T (p.Val23024Phe)
 gnomAD v4
2g.178530294C>GCA349406110TTN,TTN-AS1c.98617G>C (p.Val32873Leu)
c.79702G>C (p.Val26568Leu)
c.79501G>C (p.Val26501Leu)
c.79126G>C (p.Val26376Leu)
c.106321G>C (p.Val35441Leu)
c.101398G>C (p.Val33800Leu)
n.446+6658C>G
n.220-5438C>G
c.105418G>C (p.Val35140Leu)
c.79312G>C (p.Val26438Leu)
c.79171G>C (p.Val26391Leu)
c.105214G>C (p.Val35072Leu)
c.100612G>C (p.Val33538Leu)
c.100609G>C (p.Val33537Leu)
c.97651G>C (p.Val32551Leu)
c.79267G>C (p.Val26423Leu)
c.100762G>C (p.Val33588Leu)
c.100759G>C (p.Val33587Leu)
c.100192G>C (p.Val33398Leu)
c.97534G>C (p.Val32512Leu)
c.97453G>C (p.Val32485Leu)
c.79216G>C (p.Val26406Leu)
c.69070G>C (p.Val23024Leu)
2g.178530294C>TCA349406106TTN,TTN-AS1c.98617G>A (p.Val32873Ile)
c.79702G>A (p.Val26568Ile)
c.79501G>A (p.Val26501Ile)
c.79126G>A (p.Val26376Ile)
c.106321G>A (p.Val35441Ile)
c.101398G>A (p.Val33800Ile)
n.446+6658C>T
n.220-5438C>T
c.105418G>A (p.Val35140Ile)
c.79312G>A (p.Val26438Ile)
c.79171G>A (p.Val26391Ile)
c.105214G>A (p.Val35072Ile)
c.100612G>A (p.Val33538Ile)
c.100609G>A (p.Val33537Ile)
c.97651G>A (p.Val32551Ile)
c.79267G>A (p.Val26423Ile)
c.100762G>A (p.Val33588Ile)
c.100759G>A (p.Val33587Ile)
c.100192G>A (p.Val33398Ile)
c.97534G>A (p.Val32512Ile)
c.97453G>A (p.Val32485Ile)
c.79216G>A (p.Val26406Ile)
c.69070G>A (p.Val23024Ile)
 dbSNP
2g.178530295T>ACA430235086TTN,TTN-AS1c.98616A>T (p.Ala32872=)
c.79701A>T (p.Ala26567=)
c.79500A>T (p.Ala26500=)
c.79125A>T (p.Ala26375=)
c.106320A>T (p.Ala35440=)
c.101397A>T (p.Ala33799=)
n.446+6659T>A
n.220-5437T>A
c.105417A>T (p.Ala35139=)
c.79311A>T (p.Ala26437=)
c.79170A>T (p.Ala26390=)
c.105213A>T (p.Ala35071=)
c.100611A>T (p.Ala33537=)
c.100608A>T (p.Ala33536=)
c.97650A>T (p.Ala32550=)
c.79266A>T (p.Ala26422=)
c.100761A>T (p.Ala33587=)
c.100758A>T (p.Ala33586=)
c.100191A>T (p.Ala33397=)
c.97533A>T (p.Ala32511=)
c.97452A>T (p.Ala32484=)
c.79215A>T (p.Ala26405=)
c.69069A>T (p.Ala23023=)
2g.178530295T>CCA430235087TTN,TTN-AS1c.98616A>G (p.Ala32872=)
c.79701A>G (p.Ala26567=)
c.79500A>G (p.Ala26500=)
c.79125A>G (p.Ala26375=)
c.106320A>G (p.Ala35440=)
c.101397A>G (p.Ala33799=)
n.446+6659T>C
n.220-5437T>C
c.105417A>G (p.Ala35139=)
c.79311A>G (p.Ala26437=)
c.79170A>G (p.Ala26390=)
c.105213A>G (p.Ala35071=)
c.100611A>G (p.Ala33537=)
c.100608A>G (p.Ala33536=)
c.97650A>G (p.Ala32550=)
c.79266A>G (p.Ala26422=)
c.100761A>G (p.Ala33587=)
c.100758A>G (p.Ala33586=)
c.100191A>G (p.Ala33397=)
c.97533A>G (p.Ala32511=)
c.97452A>G (p.Ala32484=)
c.79215A>G (p.Ala26405=)
c.69069A>G (p.Ala23023=)
2g.178530295T>GCA430235088TTN,TTN-AS1c.98616A>C (p.Ala32872=)
c.79701A>C (p.Ala26567=)
c.79500A>C (p.Ala26500=)
c.79125A>C (p.Ala26375=)
c.106320A>C (p.Ala35440=)
c.101397A>C (p.Ala33799=)
n.446+6659T>G
n.220-5437T>G
c.105417A>C (p.Ala35139=)
c.79311A>C (p.Ala26437=)
c.79170A>C (p.Ala26390=)
c.105213A>C (p.Ala35071=)
c.100611A>C (p.Ala33537=)
c.100608A>C (p.Ala33536=)
c.97650A>C (p.Ala32550=)
c.79266A>C (p.Ala26422=)
c.100761A>C (p.Ala33587=)
c.100758A>C (p.Ala33586=)
c.100191A>C (p.Ala33397=)
c.97533A>C (p.Ala32511=)
c.97452A>C (p.Ala32484=)
c.79215A>C (p.Ala26405=)
c.69069A>C (p.Ala23023=)
2g.178530296G>ACA1985128TTN,TTN-AS1c.98615C>T (p.Ala32872Val)
c.79700C>T (p.Ala26567Val)
c.79499C>T (p.Ala26500Val)
c.79124C>T (p.Ala26375Val)
c.106319C>T (p.Ala35440Val)
c.101396C>T (p.Ala33799Val)
n.446+6660G>A
n.220-5436G>A
c.105416C>T (p.Ala35139Val)
c.79310C>T (p.Ala26437Val)
c.79169C>T (p.Ala26390Val)
c.105212C>T (p.Ala35071Val)
c.100610C>T (p.Ala33537Val)
c.100607C>T (p.Ala33536Val)
c.97649C>T (p.Ala32550Val)
c.79265C>T (p.Ala26422Val)
c.100760C>T (p.Ala33587Val)
c.100757C>T (p.Ala33586Val)
c.100190C>T (p.Ala33397Val)
c.97532C>T (p.Ala32511Val)
c.97451C>T (p.Ala32484Val)
c.79214C>T (p.Ala26405Val)
c.69068C>T (p.Ala23023Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530296G>CCA349406117TTN,TTN-AS1c.98615C>G (p.Ala32872Gly)
c.79700C>G (p.Ala26567Gly)
c.79499C>G (p.Ala26500Gly)
c.79124C>G (p.Ala26375Gly)
c.106319C>G (p.Ala35440Gly)
c.101396C>G (p.Ala33799Gly)
n.446+6660G>C
n.220-5436G>C
c.105416C>G (p.Ala35139Gly)
c.79310C>G (p.Ala26437Gly)
c.79169C>G (p.Ala26390Gly)
c.105212C>G (p.Ala35071Gly)
c.100610C>G (p.Ala33537Gly)
c.100607C>G (p.Ala33536Gly)
c.97649C>G (p.Ala32550Gly)
c.79265C>G (p.Ala26422Gly)
c.100760C>G (p.Ala33587Gly)
c.100757C>G (p.Ala33586Gly)
c.100190C>G (p.Ala33397Gly)
c.97532C>G (p.Ala32511Gly)
c.97451C>G (p.Ala32484Gly)
c.79214C>G (p.Ala26405Gly)
c.69068C>G (p.Ala23023Gly)
2g.178530296G=CA1310511734TTN,TTN-AS1c.98615C= (p.Ala32872=)
c.79700C= (p.Ala26567=)
c.79499C= (p.Ala26500=)
c.79124C= (p.Ala26375=)
c.106319C= (p.Ala35440=)
c.101396C= (p.Ala33799=)
n.446+6660G=
n.220-5436G=
c.105416C= (p.Ala35139=)
c.79310C= (p.Ala26437=)
c.79169C= (p.Ala26390=)
c.105212C= (p.Ala35071=)
c.100610C= (p.Ala33537=)
c.100607C= (p.Ala33536=)
c.97649C= (p.Ala32550=)
c.79265C= (p.Ala26422=)
c.100760C= (p.Ala33587=)
c.100757C= (p.Ala33586=)
c.100190C= (p.Ala33397=)
c.97532C= (p.Ala32511=)
c.97451C= (p.Ala32484=)
c.79214C= (p.Ala26405=)
c.69068C= (p.Ala23023=)
2g.178530296G>TCA349406121TTN,TTN-AS1c.98615C>A (p.Ala32872Glu)
c.79700C>A (p.Ala26567Glu)
c.79499C>A (p.Ala26500Glu)
c.79124C>A (p.Ala26375Glu)
c.106319C>A (p.Ala35440Glu)
c.101396C>A (p.Ala33799Glu)
n.446+6660G>T
n.220-5436G>T
c.105416C>A (p.Ala35139Glu)
c.79310C>A (p.Ala26437Glu)
c.79169C>A (p.Ala26390Glu)
c.105212C>A (p.Ala35071Glu)
c.100610C>A (p.Ala33537Glu)
c.100607C>A (p.Ala33536Glu)
c.97649C>A (p.Ala32550Glu)
c.79265C>A (p.Ala26422Glu)
c.100760C>A (p.Ala33587Glu)
c.100757C>A (p.Ala33586Glu)
c.100190C>A (p.Ala33397Glu)
c.97532C>A (p.Ala32511Glu)
c.97451C>A (p.Ala32484Glu)
c.79214C>A (p.Ala26405Glu)
c.69068C>A (p.Ala23023Glu)
2g.178530297delCA2662125628TTN,TTN-AS1c.98614del (p.Ala32872GlnfsTer?)
c.79699del (p.Ala26567GlnfsTer?)
c.79498del (p.Ala26500GlnfsTer?)
c.79123del (p.Ala26375GlnfsTer?)
c.106318del (p.Ala35440GlnfsTer?)
c.101395del (p.Ala33799GlnfsTer?)
n.446+6661del
n.220-5435del
c.105415del (p.Ala35139GlnfsTer?)
c.79309del (p.Ala26437GlnfsTer?)
c.79168del (p.Ala26390GlnfsTer?)
c.105211del (p.Ala35071GlnfsTer?)
c.100609del (p.Ala33537GlnfsTer?)
c.100606del (p.Ala33536GlnfsTer?)
c.97648del (p.Ala32550GlnfsTer?)
c.79264del (p.Ala26422GlnfsTer?)
c.100759del (p.Ala33587GlnfsTer?)
c.100756del (p.Ala33586GlnfsTer?)
c.100189del (p.Ala33397GlnfsTer?)
c.97531del (p.Ala32511GlnfsTer?)
c.97450del (p.Ala32484GlnfsTer?)
c.79213del (p.Ala26405GlnfsTer?)
c.69067del (p.Ala23023GlnfsTer?)
 gnomAD v4
2g.178530297C>ACA349406124TTN,TTN-AS1c.98614G>T (p.Ala32872Ser)
c.79699G>T (p.Ala26567Ser)
c.79498G>T (p.Ala26500Ser)
c.79123G>T (p.Ala26375Ser)
c.106318G>T (p.Ala35440Ser)
c.101395G>T (p.Ala33799Ser)
n.446+6661C>A
n.220-5435C>A
c.105415G>T (p.Ala35139Ser)
c.79309G>T (p.Ala26437Ser)
c.79168G>T (p.Ala26390Ser)
c.105211G>T (p.Ala35071Ser)
c.100609G>T (p.Ala33537Ser)
c.100606G>T (p.Ala33536Ser)
c.97648G>T (p.Ala32550Ser)
c.79264G>T (p.Ala26422Ser)
c.100759G>T (p.Ala33587Ser)
c.100756G>T (p.Ala33586Ser)
c.100189G>T (p.Ala33397Ser)
c.97531G>T (p.Ala32511Ser)
c.97450G>T (p.Ala32484Ser)
c.79213G>T (p.Ala26405Ser)
c.69067G>T (p.Ala23023Ser)
 gnomAD v4
2g.178530297C>GCA349406126TTN,TTN-AS1c.98614G>C (p.Ala32872Pro)
c.79699G>C (p.Ala26567Pro)
c.79498G>C (p.Ala26500Pro)
c.79123G>C (p.Ala26375Pro)
c.106318G>C (p.Ala35440Pro)
c.101395G>C (p.Ala33799Pro)
n.446+6661C>G
n.220-5435C>G
c.105415G>C (p.Ala35139Pro)
c.79309G>C (p.Ala26437Pro)
c.79168G>C (p.Ala26390Pro)
c.105211G>C (p.Ala35071Pro)
c.100609G>C (p.Ala33537Pro)
c.100606G>C (p.Ala33536Pro)
c.97648G>C (p.Ala32550Pro)
c.79264G>C (p.Ala26422Pro)
c.100759G>C (p.Ala33587Pro)
c.100756G>C (p.Ala33586Pro)
c.100189G>C (p.Ala33397Pro)
c.97531G>C (p.Ala32511Pro)
c.97450G>C (p.Ala32484Pro)
c.79213G>C (p.Ala26405Pro)
c.69067G>C (p.Ala23023Pro)
2g.178530297C>TCA349406130TTN,TTN-AS1c.98614G>A (p.Ala32872Thr)
c.79699G>A (p.Ala26567Thr)
c.79498G>A (p.Ala26500Thr)
c.79123G>A (p.Ala26375Thr)
c.106318G>A (p.Ala35440Thr)
c.101395G>A (p.Ala33799Thr)
n.446+6661C>T
n.220-5435C>T
c.105415G>A (p.Ala35139Thr)
c.79309G>A (p.Ala26437Thr)
c.79168G>A (p.Ala26390Thr)
c.105211G>A (p.Ala35071Thr)
c.100609G>A (p.Ala33537Thr)
c.100606G>A (p.Ala33536Thr)
c.97648G>A (p.Ala32550Thr)
c.79264G>A (p.Ala26422Thr)
c.100759G>A (p.Ala33587Thr)
c.100756G>A (p.Ala33586Thr)
c.100189G>A (p.Ala33397Thr)
c.97531G>A (p.Ala32511Thr)
c.97450G>A (p.Ala32484Thr)
c.79213G>A (p.Ala26405Thr)
c.69067G>A (p.Ala23023Thr)
2g.178530298A>CCA349406133TTN,TTN-AS1c.98613T>G (p.Phe32871Leu)
c.79698T>G (p.Phe26566Leu)
c.79497T>G (p.Phe26499Leu)
c.79122T>G (p.Phe26374Leu)
c.106317T>G (p.Phe35439Leu)
c.101394T>G (p.Phe33798Leu)
n.446+6662A>C
n.220-5434A>C
c.105414T>G (p.Phe35138Leu)
c.79308T>G (p.Phe26436Leu)
c.79167T>G (p.Phe26389Leu)
c.105210T>G (p.Phe35070Leu)
c.100608T>G (p.Phe33536Leu)
c.100605T>G (p.Phe33535Leu)
c.97647T>G (p.Phe32549Leu)
c.79263T>G (p.Phe26421Leu)
c.100758T>G (p.Phe33586Leu)
c.100755T>G (p.Phe33585Leu)
c.100188T>G (p.Phe33396Leu)
c.97530T>G (p.Phe32510Leu)
c.97449T>G (p.Phe32483Leu)
c.79212T>G (p.Phe26404Leu)
c.69066T>G (p.Phe23022Leu)
 gnomAD v4
2g.178530298A>GCA430235091TTN,TTN-AS1c.98613T>C (p.Phe32871=)
c.79698T>C (p.Phe26566=)
c.79497T>C (p.Phe26499=)
c.79122T>C (p.Phe26374=)
c.106317T>C (p.Phe35439=)
c.101394T>C (p.Phe33798=)
n.446+6662A>G
n.220-5434A>G
c.105414T>C (p.Phe35138=)
c.79308T>C (p.Phe26436=)
c.79167T>C (p.Phe26389=)
c.105210T>C (p.Phe35070=)
c.100608T>C (p.Phe33536=)
c.100605T>C (p.Phe33535=)
c.97647T>C (p.Phe32549=)
c.79263T>C (p.Phe26421=)
c.100758T>C (p.Phe33586=)
c.100755T>C (p.Phe33585=)
c.100188T>C (p.Phe33396=)
c.97530T>C (p.Phe32510=)
c.97449T>C (p.Phe32483=)
c.79212T>C (p.Phe26404=)
c.69066T>C (p.Phe23022=)
2g.178530298A>TCA349406135TTN,TTN-AS1c.98613T>A (p.Phe32871Leu)
c.79698T>A (p.Phe26566Leu)
c.79497T>A (p.Phe26499Leu)
c.79122T>A (p.Phe26374Leu)
c.106317T>A (p.Phe35439Leu)
c.101394T>A (p.Phe33798Leu)
n.446+6662A>T
n.220-5434A>T
c.105414T>A (p.Phe35138Leu)
c.79308T>A (p.Phe26436Leu)
c.79167T>A (p.Phe26389Leu)
c.105210T>A (p.Phe35070Leu)
c.100608T>A (p.Phe33536Leu)
c.100605T>A (p.Phe33535Leu)
c.97647T>A (p.Phe32549Leu)
c.79263T>A (p.Phe26421Leu)
c.100758T>A (p.Phe33586Leu)
c.100755T>A (p.Phe33585Leu)
c.100188T>A (p.Phe33396Leu)
c.97530T>A (p.Phe32510Leu)
c.97449T>A (p.Phe32483Leu)
c.79212T>A (p.Phe26404Leu)
c.69066T>A (p.Phe23022Leu)
2g.178530299A=CA1310511738TTN,TTN-AS1c.98612T= (p.Phe32871=)
c.79697T= (p.Phe26566=)
c.79496T= (p.Phe26499=)
c.79121T= (p.Phe26374=)
c.106316T= (p.Phe35439=)
c.101393T= (p.Phe33798=)
n.446+6663A=
n.220-5433A=
c.105413T= (p.Phe35138=)
c.79307T= (p.Phe26436=)
c.79166T= (p.Phe26389=)
c.105209T= (p.Phe35070=)
c.100607T= (p.Phe33536=)
c.100604T= (p.Phe33535=)
c.97646T= (p.Phe32549=)
c.79262T= (p.Phe26421=)
c.100757T= (p.Phe33586=)
c.100754T= (p.Phe33585=)
c.100187T= (p.Phe33396=)
c.97529T= (p.Phe32510=)
c.97448T= (p.Phe32483=)
c.79211T= (p.Phe26404=)
c.69065T= (p.Phe23022=)
2g.178530299A>CCA60953272TTN,TTN-AS1c.98612T>G (p.Phe32871Cys)
c.79697T>G (p.Phe26566Cys)
c.79496T>G (p.Phe26499Cys)
c.79121T>G (p.Phe26374Cys)
c.106316T>G (p.Phe35439Cys)
c.101393T>G (p.Phe33798Cys)
n.446+6663A>C
n.220-5433A>C
c.105413T>G (p.Phe35138Cys)
c.79307T>G (p.Phe26436Cys)
c.79166T>G (p.Phe26389Cys)
c.105209T>G (p.Phe35070Cys)
c.100607T>G (p.Phe33536Cys)
c.100604T>G (p.Phe33535Cys)
c.97646T>G (p.Phe32549Cys)
c.79262T>G (p.Phe26421Cys)
c.100757T>G (p.Phe33586Cys)
c.100754T>G (p.Phe33585Cys)
c.100187T>G (p.Phe33396Cys)
c.97529T>G (p.Phe32510Cys)
c.97448T>G (p.Phe32483Cys)
c.79211T>G (p.Phe26404Cys)
c.69065T>G (p.Phe23022Cys)
 dbSNP
2g.178530299A>GCA349406139TTN,TTN-AS1c.98612T>C (p.Phe32871Ser)
c.79697T>C (p.Phe26566Ser)
c.79496T>C (p.Phe26499Ser)
c.79121T>C (p.Phe26374Ser)
c.106316T>C (p.Phe35439Ser)
c.101393T>C (p.Phe33798Ser)
n.446+6663A>G
n.220-5433A>G
c.105413T>C (p.Phe35138Ser)
c.79307T>C (p.Phe26436Ser)
c.79166T>C (p.Phe26389Ser)
c.105209T>C (p.Phe35070Ser)
c.100607T>C (p.Phe33536Ser)
c.100604T>C (p.Phe33535Ser)
c.97646T>C (p.Phe32549Ser)
c.79262T>C (p.Phe26421Ser)
c.100757T>C (p.Phe33586Ser)
c.100754T>C (p.Phe33585Ser)
c.100187T>C (p.Phe33396Ser)
c.97529T>C (p.Phe32510Ser)
c.97448T>C (p.Phe32483Ser)
c.79211T>C (p.Phe26404Ser)
c.69065T>C (p.Phe23022Ser)
 gnomAD v4
2g.178530299A>TCA349406142TTN,TTN-AS1c.98612T>A (p.Phe32871Tyr)
c.79697T>A (p.Phe26566Tyr)
c.79496T>A (p.Phe26499Tyr)
c.79121T>A (p.Phe26374Tyr)
c.106316T>A (p.Phe35439Tyr)
c.101393T>A (p.Phe33798Tyr)
n.446+6663A>T
n.220-5433A>T
c.105413T>A (p.Phe35138Tyr)
c.79307T>A (p.Phe26436Tyr)
c.79166T>A (p.Phe26389Tyr)
c.105209T>A (p.Phe35070Tyr)
c.100607T>A (p.Phe33536Tyr)
c.100604T>A (p.Phe33535Tyr)
c.97646T>A (p.Phe32549Tyr)
c.79262T>A (p.Phe26421Tyr)
c.100757T>A (p.Phe33586Tyr)
c.100754T>A (p.Phe33585Tyr)
c.100187T>A (p.Phe33396Tyr)
c.97529T>A (p.Phe32510Tyr)
c.97448T>A (p.Phe32483Tyr)
c.79211T>A (p.Phe26404Tyr)
c.69065T>A (p.Phe23022Tyr)
2g.178530300A>CCA349406148TTN,TTN-AS1c.98611T>G (p.Phe32871Val)
c.79696T>G (p.Phe26566Val)
c.79495T>G (p.Phe26499Val)
c.79120T>G (p.Phe26374Val)
c.106315T>G (p.Phe35439Val)
c.101392T>G (p.Phe33798Val)
n.446+6664A>C
n.220-5432A>C
c.105412T>G (p.Phe35138Val)
c.79306T>G (p.Phe26436Val)
c.79165T>G (p.Phe26389Val)
c.105208T>G (p.Phe35070Val)
c.100606T>G (p.Phe33536Val)
c.100603T>G (p.Phe33535Val)
c.97645T>G (p.Phe32549Val)
c.79261T>G (p.Phe26421Val)
c.100756T>G (p.Phe33586Val)
c.100753T>G (p.Phe33585Val)
c.100186T>G (p.Phe33396Val)
c.97528T>G (p.Phe32510Val)
c.97447T>G (p.Phe32483Val)
c.79210T>G (p.Phe26404Val)
c.69064T>G (p.Phe23022Val)
2g.178530300A>GCA349406150TTN,TTN-AS1c.98611T>C (p.Phe32871Leu)
c.79696T>C (p.Phe26566Leu)
c.79495T>C (p.Phe26499Leu)
c.79120T>C (p.Phe26374Leu)
c.106315T>C (p.Phe35439Leu)
c.101392T>C (p.Phe33798Leu)
n.446+6664A>G
n.220-5432A>G
c.105412T>C (p.Phe35138Leu)
c.79306T>C (p.Phe26436Leu)
c.79165T>C (p.Phe26389Leu)
c.105208T>C (p.Phe35070Leu)
c.100606T>C (p.Phe33536Leu)
c.100603T>C (p.Phe33535Leu)
c.97645T>C (p.Phe32549Leu)
c.79261T>C (p.Phe26421Leu)
c.100756T>C (p.Phe33586Leu)
c.100753T>C (p.Phe33585Leu)
c.100186T>C (p.Phe33396Leu)
c.97528T>C (p.Phe32510Leu)
c.97447T>C (p.Phe32483Leu)
c.79210T>C (p.Phe26404Leu)
c.69064T>C (p.Phe23022Leu)
2g.178530300A>TCA349406145TTN,TTN-AS1c.98611T>A (p.Phe32871Ile)
c.79696T>A (p.Phe26566Ile)
c.79495T>A (p.Phe26499Ile)
c.79120T>A (p.Phe26374Ile)
c.106315T>A (p.Phe35439Ile)
c.101392T>A (p.Phe33798Ile)
n.446+6664A>T
n.220-5432A>T
c.105412T>A (p.Phe35138Ile)
c.79306T>A (p.Phe26436Ile)
c.79165T>A (p.Phe26389Ile)
c.105208T>A (p.Phe35070Ile)
c.100606T>A (p.Phe33536Ile)
c.100603T>A (p.Phe33535Ile)
c.97645T>A (p.Phe32549Ile)
c.79261T>A (p.Phe26421Ile)
c.100756T>A (p.Phe33586Ile)
c.100753T>A (p.Phe33585Ile)
c.100186T>A (p.Phe33396Ile)
c.97528T>A (p.Phe32510Ile)
c.97447T>A (p.Phe32483Ile)
c.79210T>A (p.Phe26404Ile)
c.69064T>A (p.Phe23022Ile)
2g.178530301T>ACA349406153TTN,TTN-AS1c.98610A>T (p.Lys32870Asn)
c.79695A>T (p.Lys26565Asn)
c.79494A>T (p.Lys26498Asn)
c.79119A>T (p.Lys26373Asn)
c.106314A>T (p.Lys35438Asn)
c.101391A>T (p.Lys33797Asn)
n.446+6665T>A
n.220-5431T>A
c.105411A>T (p.Lys35137Asn)
c.79305A>T (p.Lys26435Asn)
c.79164A>T (p.Lys26388Asn)
c.105207A>T (p.Lys35069Asn)
c.100605A>T (p.Lys33535Asn)
c.100602A>T (p.Lys33534Asn)
c.97644A>T (p.Lys32548Asn)
c.79260A>T (p.Lys26420Asn)
c.100755A>T (p.Lys33585Asn)
c.100752A>T (p.Lys33584Asn)
c.100185A>T (p.Lys33395Asn)
c.97527A>T (p.Lys32509Asn)
c.97446A>T (p.Lys32482Asn)
c.79209A>T (p.Lys26403Asn)
c.69063A>T (p.Lys23021Asn)
2g.178530301T>CCA430235094TTN,TTN-AS1c.98610A>G (p.Lys32870=)
c.79695A>G (p.Lys26565=)
c.79494A>G (p.Lys26498=)
c.79119A>G (p.Lys26373=)
c.106314A>G (p.Lys35438=)
c.101391A>G (p.Lys33797=)
n.446+6665T>C
n.220-5431T>C
c.105411A>G (p.Lys35137=)
c.79305A>G (p.Lys26435=)
c.79164A>G (p.Lys26388=)
c.105207A>G (p.Lys35069=)
c.100605A>G (p.Lys33535=)
c.100602A>G (p.Lys33534=)
c.97644A>G (p.Lys32548=)
c.79260A>G (p.Lys26420=)
c.100755A>G (p.Lys33585=)
c.100752A>G (p.Lys33584=)
c.100185A>G (p.Lys33395=)
c.97527A>G (p.Lys32509=)
c.97446A>G (p.Lys32482=)
c.79209A>G (p.Lys26403=)
c.69063A>G (p.Lys23021=)
2g.178530301T>GCA349406156TTN,TTN-AS1c.98610A>C (p.Lys32870Asn)
c.79695A>C (p.Lys26565Asn)
c.79494A>C (p.Lys26498Asn)
c.79119A>C (p.Lys26373Asn)
c.106314A>C (p.Lys35438Asn)
c.101391A>C (p.Lys33797Asn)
n.446+6665T>G
n.220-5431T>G
c.105411A>C (p.Lys35137Asn)
c.79305A>C (p.Lys26435Asn)
c.79164A>C (p.Lys26388Asn)
c.105207A>C (p.Lys35069Asn)
c.100605A>C (p.Lys33535Asn)
c.100602A>C (p.Lys33534Asn)
c.97644A>C (p.Lys32548Asn)
c.79260A>C (p.Lys26420Asn)
c.100755A>C (p.Lys33585Asn)
c.100752A>C (p.Lys33584Asn)
c.100185A>C (p.Lys33395Asn)
c.97527A>C (p.Lys32509Asn)
c.97446A>C (p.Lys32482Asn)
c.79209A>C (p.Lys26403Asn)
c.69063A>C (p.Lys23021Asn)
2g.178530302T>ACA349406159TTN,TTN-AS1c.98609A>T (p.Lys32870Ile)
c.79694A>T (p.Lys26565Ile)
c.79493A>T (p.Lys26498Ile)
c.79118A>T (p.Lys26373Ile)
c.106313A>T (p.Lys35438Ile)
c.101390A>T (p.Lys33797Ile)
n.446+6666T>A
n.220-5430T>A
c.105410A>T (p.Lys35137Ile)
c.79304A>T (p.Lys26435Ile)
c.79163A>T (p.Lys26388Ile)
c.105206A>T (p.Lys35069Ile)
c.100604A>T (p.Lys33535Ile)
c.100601A>T (p.Lys33534Ile)
c.97643A>T (p.Lys32548Ile)
c.79259A>T (p.Lys26420Ile)
c.100754A>T (p.Lys33585Ile)
c.100751A>T (p.Lys33584Ile)
c.100184A>T (p.Lys33395Ile)
c.97526A>T (p.Lys32509Ile)
c.97445A>T (p.Lys32482Ile)
c.79208A>T (p.Lys26403Ile)
c.69062A>T (p.Lys23021Ile)
2g.178530302T>CCA349406162TTN,TTN-AS1c.98609A>G (p.Lys32870Arg)
c.79694A>G (p.Lys26565Arg)
c.79493A>G (p.Lys26498Arg)
c.79118A>G (p.Lys26373Arg)
c.106313A>G (p.Lys35438Arg)
c.101390A>G (p.Lys33797Arg)
n.446+6666T>C
n.220-5430T>C
c.105410A>G (p.Lys35137Arg)
c.79304A>G (p.Lys26435Arg)
c.79163A>G (p.Lys26388Arg)
c.105206A>G (p.Lys35069Arg)
c.100604A>G (p.Lys33535Arg)
c.100601A>G (p.Lys33534Arg)
c.97643A>G (p.Lys32548Arg)
c.79259A>G (p.Lys26420Arg)
c.100754A>G (p.Lys33585Arg)
c.100751A>G (p.Lys33584Arg)
c.100184A>G (p.Lys33395Arg)
c.97526A>G (p.Lys32509Arg)
c.97445A>G (p.Lys32482Arg)
c.79208A>G (p.Lys26403Arg)
c.69062A>G (p.Lys23021Arg)
2g.178530302T>GCA349406165TTN,TTN-AS1c.98609A>C (p.Lys32870Thr)
c.79694A>C (p.Lys26565Thr)
c.79493A>C (p.Lys26498Thr)
c.79118A>C (p.Lys26373Thr)
c.106313A>C (p.Lys35438Thr)
c.101390A>C (p.Lys33797Thr)
n.446+6666T>G
n.220-5430T>G
c.105410A>C (p.Lys35137Thr)
c.79304A>C (p.Lys26435Thr)
c.79163A>C (p.Lys26388Thr)
c.105206A>C (p.Lys35069Thr)
c.100604A>C (p.Lys33535Thr)
c.100601A>C (p.Lys33534Thr)
c.97643A>C (p.Lys32548Thr)
c.79259A>C (p.Lys26420Thr)
c.100754A>C (p.Lys33585Thr)
c.100751A>C (p.Lys33584Thr)
c.100184A>C (p.Lys33395Thr)
c.97526A>C (p.Lys32509Thr)
c.97445A>C (p.Lys32482Thr)
c.79208A>C (p.Lys26403Thr)
c.69062A>C (p.Lys23021Thr)
2g.178530303T>ACA349406171TTN,TTN-AS1c.98608A>T (p.Lys32870Ter)
c.79693A>T (p.Lys26565Ter)
c.79492A>T (p.Lys26498Ter)
c.79117A>T (p.Lys26373Ter)
c.106312A>T (p.Lys35438Ter)
c.101389A>T (p.Lys33797Ter)
n.446+6667T>A
n.220-5429T>A
c.105409A>T (p.Lys35137Ter)
c.79303A>T (p.Lys26435Ter)
c.79162A>T (p.Lys26388Ter)
c.105205A>T (p.Lys35069Ter)
c.100603A>T (p.Lys33535Ter)
c.100600A>T (p.Lys33534Ter)
c.97642A>T (p.Lys32548Ter)
c.79258A>T (p.Lys26420Ter)
c.100753A>T (p.Lys33585Ter)
c.100750A>T (p.Lys33584Ter)
c.100183A>T (p.Lys33395Ter)
c.97525A>T (p.Lys32509Ter)
c.97444A>T (p.Lys32482Ter)
c.79207A>T (p.Lys26403Ter)
c.69061A>T (p.Lys23021Ter)
2g.178530303T>CCA1985129TTN,TTN-AS1c.98608A>G (p.Lys32870Glu)
c.79693A>G (p.Lys26565Glu)
c.79492A>G (p.Lys26498Glu)
c.79117A>G (p.Lys26373Glu)
c.106312A>G (p.Lys35438Glu)
c.101389A>G (p.Lys33797Glu)
n.446+6667T>C
n.220-5429T>C
c.105409A>G (p.Lys35137Glu)
c.79303A>G (p.Lys26435Glu)
c.79162A>G (p.Lys26388Glu)
c.105205A>G (p.Lys35069Glu)
c.100603A>G (p.Lys33535Glu)
c.100600A>G (p.Lys33534Glu)
c.97642A>G (p.Lys32548Glu)
c.79258A>G (p.Lys26420Glu)
c.100753A>G (p.Lys33585Glu)
c.100750A>G (p.Lys33584Glu)
c.100183A>G (p.Lys33395Glu)
c.97525A>G (p.Lys32509Glu)
c.97444A>G (p.Lys32482Glu)
c.79207A>G (p.Lys26403Glu)
c.69061A>G (p.Lys23021Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530303T>GCA349406169TTN,TTN-AS1c.98608A>C (p.Lys32870Gln)
c.79693A>C (p.Lys26565Gln)
c.79492A>C (p.Lys26498Gln)
c.79117A>C (p.Lys26373Gln)
c.106312A>C (p.Lys35438Gln)
c.101389A>C (p.Lys33797Gln)
n.446+6667T>G
n.220-5429T>G
c.105409A>C (p.Lys35137Gln)
c.79303A>C (p.Lys26435Gln)
c.79162A>C (p.Lys26388Gln)
c.105205A>C (p.Lys35069Gln)
c.100603A>C (p.Lys33535Gln)
c.100600A>C (p.Lys33534Gln)
c.97642A>C (p.Lys32548Gln)
c.79258A>C (p.Lys26420Gln)
c.100753A>C (p.Lys33585Gln)
c.100750A>C (p.Lys33584Gln)
c.100183A>C (p.Lys33395Gln)
c.97525A>C (p.Lys32509Gln)
c.97444A>C (p.Lys32482Gln)
c.79207A>C (p.Lys26403Gln)
c.69061A>C (p.Lys23021Gln)
2g.178530303T=CA1310511741TTN,TTN-AS1c.98608A= (p.Lys32870=)
c.79693A= (p.Lys26565=)
c.79492A= (p.Lys26498=)
c.79117A= (p.Lys26373=)
c.106312A= (p.Lys35438=)
c.101389A= (p.Lys33797=)
n.446+6667T=
n.220-5429T=
c.105409A= (p.Lys35137=)
c.79303A= (p.Lys26435=)
c.79162A= (p.Lys26388=)
c.105205A= (p.Lys35069=)
c.100603A= (p.Lys33535=)
c.100600A= (p.Lys33534=)
c.97642A= (p.Lys32548=)
c.79258A= (p.Lys26420=)
c.100753A= (p.Lys33585=)
c.100750A= (p.Lys33584=)
c.100183A= (p.Lys33395=)
c.97525A= (p.Lys32509=)
c.97444A= (p.Lys32482=)
c.79207A= (p.Lys26403=)
c.69061A= (p.Lys23021=)
2g.178530304A=CA1310511744TTN,TTN-AS1c.98607T= (p.Ala32869=)
c.79692T= (p.Ala26564=)
c.79491T= (p.Ala26497=)
c.79116T= (p.Ala26372=)
c.106311T= (p.Ala35437=)
c.101388T= (p.Ala33796=)
n.446+6668A=
n.220-5428A=
c.105408T= (p.Ala35136=)
c.79302T= (p.Ala26434=)
c.79161T= (p.Ala26387=)
c.105204T= (p.Ala35068=)
c.100602T= (p.Ala33534=)
c.100599T= (p.Ala33533=)
c.97641T= (p.Ala32547=)
c.79257T= (p.Ala26419=)
c.100752T= (p.Ala33584=)
c.100749T= (p.Ala33583=)
c.100182T= (p.Ala33394=)
c.97524T= (p.Ala32508=)
c.97443T= (p.Ala32481=)
c.79206T= (p.Ala26402=)
c.69060T= (p.Ala23020=)
2g.178530304A>CCA430235100TTN,TTN-AS1c.98607T>G (p.Ala32869=)
c.79692T>G (p.Ala26564=)
c.79491T>G (p.Ala26497=)
c.79116T>G (p.Ala26372=)
c.106311T>G (p.Ala35437=)
c.101388T>G (p.Ala33796=)
n.446+6668A>C
n.220-5428A>C
c.105408T>G (p.Ala35136=)
c.79302T>G (p.Ala26434=)
c.79161T>G (p.Ala26387=)
c.105204T>G (p.Ala35068=)
c.100602T>G (p.Ala33534=)
c.100599T>G (p.Ala33533=)
c.97641T>G (p.Ala32547=)
c.79257T>G (p.Ala26419=)
c.100752T>G (p.Ala33584=)
c.100749T>G (p.Ala33583=)
c.100182T>G (p.Ala33394=)
c.97524T>G (p.Ala32508=)
c.97443T>G (p.Ala32481=)
c.79206T>G (p.Ala26402=)
c.69060T>G (p.Ala23020=)
2g.178530304A>GCA1985131TTN,TTN-AS1c.98607T>C (p.Ala32869=)
c.79692T>C (p.Ala26564=)
c.79491T>C (p.Ala26497=)
c.79116T>C (p.Ala26372=)
c.106311T>C (p.Ala35437=)
c.101388T>C (p.Ala33796=)
n.446+6668A>G
n.220-5428A>G
c.105408T>C (p.Ala35136=)
c.79302T>C (p.Ala26434=)
c.79161T>C (p.Ala26387=)
c.105204T>C (p.Ala35068=)
c.100602T>C (p.Ala33534=)
c.100599T>C (p.Ala33533=)
c.97641T>C (p.Ala32547=)
c.79257T>C (p.Ala26419=)
c.100752T>C (p.Ala33584=)
c.100749T>C (p.Ala33583=)
c.100182T>C (p.Ala33394=)
c.97524T>C (p.Ala32508=)
c.97443T>C (p.Ala32481=)
c.79206T>C (p.Ala26402=)
c.69060T>C (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530304A>TCA1985130TTN,TTN-AS1c.98607T>A (p.Ala32869=)
c.79692T>A (p.Ala26564=)
c.79491T>A (p.Ala26497=)
c.79116T>A (p.Ala26372=)
c.106311T>A (p.Ala35437=)
c.101388T>A (p.Ala33796=)
n.446+6668A>T
n.220-5428A>T
c.105408T>A (p.Ala35136=)
c.79302T>A (p.Ala26434=)
c.79161T>A (p.Ala26387=)
c.105204T>A (p.Ala35068=)
c.100602T>A (p.Ala33534=)
c.100599T>A (p.Ala33533=)
c.97641T>A (p.Ala32547=)
c.79257T>A (p.Ala26419=)
c.100752T>A (p.Ala33584=)
c.100749T>A (p.Ala33583=)
c.100182T>A (p.Ala33394=)
c.97524T>A (p.Ala32508=)
c.97443T>A (p.Ala32481=)
c.79206T>A (p.Ala26402=)
c.69060T>A (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530305G>ACA349406178TTN,TTN-AS1c.98606C>T (p.Ala32869Val)
c.79691C>T (p.Ala26564Val)
c.79490C>T (p.Ala26497Val)
c.79115C>T (p.Ala26372Val)
c.106310C>T (p.Ala35437Val)
c.101387C>T (p.Ala33796Val)
n.446+6669G>A
n.220-5427G>A
c.105407C>T (p.Ala35136Val)
c.79301C>T (p.Ala26434Val)
c.79160C>T (p.Ala26387Val)
c.105203C>T (p.Ala35068Val)
c.100601C>T (p.Ala33534Val)
c.100598C>T (p.Ala33533Val)
c.97640C>T (p.Ala32547Val)
c.79256C>T (p.Ala26419Val)
c.100751C>T (p.Ala33584Val)
c.100748C>T (p.Ala33583Val)
c.100181C>T (p.Ala33394Val)
c.97523C>T (p.Ala32508Val)
c.97442C>T (p.Ala32481Val)
c.79205C>T (p.Ala26402Val)
c.69059C>T (p.Ala23020Val)
2g.178530305G>CCA349406180TTN,TTN-AS1c.98606C>G (p.Ala32869Gly)
c.79691C>G (p.Ala26564Gly)
c.79490C>G (p.Ala26497Gly)
c.79115C>G (p.Ala26372Gly)
c.106310C>G (p.Ala35437Gly)
c.101387C>G (p.Ala33796Gly)
n.446+6669G>C
n.220-5427G>C
c.105407C>G (p.Ala35136Gly)
c.79301C>G (p.Ala26434Gly)
c.79160C>G (p.Ala26387Gly)
c.105203C>G (p.Ala35068Gly)
c.100601C>G (p.Ala33534Gly)
c.100598C>G (p.Ala33533Gly)
c.97640C>G (p.Ala32547Gly)
c.79256C>G (p.Ala26419Gly)
c.100751C>G (p.Ala33584Gly)
c.100748C>G (p.Ala33583Gly)
c.100181C>G (p.Ala33394Gly)
c.97523C>G (p.Ala32508Gly)
c.97442C>G (p.Ala32481Gly)
c.79205C>G (p.Ala26402Gly)
c.69059C>G (p.Ala23020Gly)
2g.178530305G>TCA349406182TTN,TTN-AS1c.98606C>A (p.Ala32869Asp)
c.79691C>A (p.Ala26564Asp)
c.79490C>A (p.Ala26497Asp)
c.79115C>A (p.Ala26372Asp)
c.106310C>A (p.Ala35437Asp)
c.101387C>A (p.Ala33796Asp)
n.446+6669G>T
n.220-5427G>T
c.105407C>A (p.Ala35136Asp)
c.79301C>A (p.Ala26434Asp)
c.79160C>A (p.Ala26387Asp)
c.105203C>A (p.Ala35068Asp)
c.100601C>A (p.Ala33534Asp)
c.100598C>A (p.Ala33533Asp)
c.97640C>A (p.Ala32547Asp)
c.79256C>A (p.Ala26419Asp)
c.100751C>A (p.Ala33584Asp)
c.100748C>A (p.Ala33583Asp)
c.100181C>A (p.Ala33394Asp)
c.97523C>A (p.Ala32508Asp)
c.97442C>A (p.Ala32481Asp)
c.79205C>A (p.Ala26402Asp)
c.69059C>A (p.Ala23020Asp)
2g.178530306C>ACA349406192TTN,TTN-AS1c.98605G>T (p.Ala32869Ser)
c.79690G>T (p.Ala26564Ser)
c.79489G>T (p.Ala26497Ser)
c.79114G>T (p.Ala26372Ser)
c.106309G>T (p.Ala35437Ser)
c.101386G>T (p.Ala33796Ser)
n.446+6670C>A
n.220-5426C>A
c.105406G>T (p.Ala35136Ser)
c.79300G>T (p.Ala26434Ser)
c.79159G>T (p.Ala26387Ser)
c.105202G>T (p.Ala35068Ser)
c.100600G>T (p.Ala33534Ser)
c.100597G>T (p.Ala33533Ser)
c.97639G>T (p.Ala32547Ser)
c.79255G>T (p.Ala26419Ser)
c.100750G>T (p.Ala33584Ser)
c.100747G>T (p.Ala33583Ser)
c.100180G>T (p.Ala33394Ser)
c.97522G>T (p.Ala32508Ser)
c.97441G>T (p.Ala32481Ser)
c.79204G>T (p.Ala26402Ser)
c.69058G>T (p.Ala23020Ser)
2g.178530306C>GCA349406188TTN,TTN-AS1c.98605G>C (p.Ala32869Pro)
c.79690G>C (p.Ala26564Pro)
c.79489G>C (p.Ala26497Pro)
c.79114G>C (p.Ala26372Pro)
c.106309G>C (p.Ala35437Pro)
c.101386G>C (p.Ala33796Pro)
n.446+6670C>G
n.220-5426C>G
c.105406G>C (p.Ala35136Pro)
c.79300G>C (p.Ala26434Pro)
c.79159G>C (p.Ala26387Pro)
c.105202G>C (p.Ala35068Pro)
c.100600G>C (p.Ala33534Pro)
c.100597G>C (p.Ala33533Pro)
c.97639G>C (p.Ala32547Pro)
c.79255G>C (p.Ala26419Pro)
c.100750G>C (p.Ala33584Pro)
c.100747G>C (p.Ala33583Pro)
c.100180G>C (p.Ala33394Pro)
c.97522G>C (p.Ala32508Pro)
c.97441G>C (p.Ala32481Pro)
c.79204G>C (p.Ala26402Pro)
c.69058G>C (p.Ala23020Pro)
2g.178530306C>TCA349406187TTN,TTN-AS1c.98605G>A (p.Ala32869Thr)
c.79690G>A (p.Ala26564Thr)
c.79489G>A (p.Ala26497Thr)
c.79114G>A (p.Ala26372Thr)
c.106309G>A (p.Ala35437Thr)
c.101386G>A (p.Ala33796Thr)
n.446+6670C>T
n.220-5426C>T
c.105406G>A (p.Ala35136Thr)
c.79300G>A (p.Ala26434Thr)
c.79159G>A (p.Ala26387Thr)
c.105202G>A (p.Ala35068Thr)
c.100600G>A (p.Ala33534Thr)
c.100597G>A (p.Ala33533Thr)
c.97639G>A (p.Ala32547Thr)
c.79255G>A (p.Ala26419Thr)
c.100750G>A (p.Ala33584Thr)
c.100747G>A (p.Ala33583Thr)
c.100180G>A (p.Ala33394Thr)
c.97522G>A (p.Ala32508Thr)
c.97441G>A (p.Ala32481Thr)
c.79204G>A (p.Ala26402Thr)
c.69058G>A (p.Ala23020Thr)
 gnomAD v4
2g.178530307A=CA1310511749TTN,TTN-AS1c.98604T= (p.Val32868=)
c.79689T= (p.Val26563=)
c.79488T= (p.Val26496=)
c.79113T= (p.Val26371=)
c.106308T= (p.Val35436=)
c.101385T= (p.Val33795=)
n.446+6671A=
n.220-5425A=
c.105405T= (p.Val35135=)
c.79299T= (p.Val26433=)
c.79158T= (p.Val26386=)
c.105201T= (p.Val35067=)
c.100599T= (p.Val33533=)
c.100596T= (p.Val33532=)
c.97638T= (p.Val32546=)
c.79254T= (p.Val26418=)
c.100749T= (p.Val33583=)
c.100746T= (p.Val33582=)
c.100179T= (p.Val33393=)
c.97521T= (p.Val32507=)
c.97440T= (p.Val32480=)
c.79203T= (p.Val26401=)
c.69057T= (p.Val23019=)
2g.178530307A>CCA430235107TTN,TTN-AS1c.98604T>G (p.Val32868=)
c.79689T>G (p.Val26563=)
c.79488T>G (p.Val26496=)
c.79113T>G (p.Val26371=)
c.106308T>G (p.Val35436=)
c.101385T>G (p.Val33795=)
n.446+6671A>C
n.220-5425A>C
c.105405T>G (p.Val35135=)
c.79299T>G (p.Val26433=)
c.79158T>G (p.Val26386=)
c.105201T>G (p.Val35067=)
c.100599T>G (p.Val33533=)
c.100596T>G (p.Val33532=)
c.97638T>G (p.Val32546=)
c.79254T>G (p.Val26418=)
c.100749T>G (p.Val33583=)
c.100746T>G (p.Val33582=)
c.100179T>G (p.Val33393=)
c.97521T>G (p.Val32507=)
c.97440T>G (p.Val32480=)
c.79203T>G (p.Val26401=)
c.69057T>G (p.Val23019=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530307A>GCA430235108TTN,TTN-AS1c.98604T>C (p.Val32868=)
c.79689T>C (p.Val26563=)
c.79488T>C (p.Val26496=)
c.79113T>C (p.Val26371=)
c.106308T>C (p.Val35436=)
c.101385T>C (p.Val33795=)
n.446+6671A>G
n.220-5425A>G
c.105405T>C (p.Val35135=)
c.79299T>C (p.Val26433=)
c.79158T>C (p.Val26386=)
c.105201T>C (p.Val35067=)
c.100599T>C (p.Val33533=)
c.100596T>C (p.Val33532=)
c.97638T>C (p.Val32546=)
c.79254T>C (p.Val26418=)
c.100749T>C (p.Val33583=)
c.100746T>C (p.Val33582=)
c.100179T>C (p.Val33393=)
c.97521T>C (p.Val32507=)
c.97440T>C (p.Val32480=)
c.79203T>C (p.Val26401=)
c.69057T>C (p.Val23019=)
2g.178530307A>TCA430235109TTN,TTN-AS1c.98604T>A (p.Val32868=)
c.79689T>A (p.Val26563=)
c.79488T>A (p.Val26496=)
c.79113T>A (p.Val26371=)
c.106308T>A (p.Val35436=)
c.101385T>A (p.Val33795=)
n.446+6671A>T
n.220-5425A>T
c.105405T>A (p.Val35135=)
c.79299T>A (p.Val26433=)
c.79158T>A (p.Val26386=)
c.105201T>A (p.Val35067=)
c.100599T>A (p.Val33533=)
c.100596T>A (p.Val33532=)
c.97638T>A (p.Val32546=)
c.79254T>A (p.Val26418=)
c.100749T>A (p.Val33583=)
c.100746T>A (p.Val33582=)
c.100179T>A (p.Val33393=)
c.97521T>A (p.Val32507=)
c.97440T>A (p.Val32480=)
c.79203T>A (p.Val26401=)
c.69057T>A (p.Val23019=)
 ClinVar dbSNP
2g.178530308A>CCA349406196TTN,TTN-AS1c.98603T>G (p.Val32868Gly)
c.79688T>G (p.Val26563Gly)
c.79487T>G (p.Val26496Gly)
c.79112T>G (p.Val26371Gly)
c.106307T>G (p.Val35436Gly)
c.101384T>G (p.Val33795Gly)
n.446+6672A>C
n.220-5424A>C
c.105404T>G (p.Val35135Gly)
c.79298T>G (p.Val26433Gly)
c.79157T>G (p.Val26386Gly)
c.105200T>G (p.Val35067Gly)
c.100598T>G (p.Val33533Gly)
c.100595T>G (p.Val33532Gly)
c.97637T>G (p.Val32546Gly)
c.79253T>G (p.Val26418Gly)
c.100748T>G (p.Val33583Gly)
c.100745T>G (p.Val33582Gly)
c.100178T>G (p.Val33393Gly)
c.97520T>G (p.Val32507Gly)
c.97439T>G (p.Val32480Gly)
c.79202T>G (p.Val26401Gly)
c.69056T>G (p.Val23019Gly)
2g.178530308A>GCA349406202TTN,TTN-AS1c.98603T>C (p.Val32868Ala)
c.79688T>C (p.Val26563Ala)
c.79487T>C (p.Val26496Ala)
c.79112T>C (p.Val26371Ala)
c.106307T>C (p.Val35436Ala)
c.101384T>C (p.Val33795Ala)
n.446+6672A>G
n.220-5424A>G
c.105404T>C (p.Val35135Ala)
c.79298T>C (p.Val26433Ala)
c.79157T>C (p.Val26386Ala)
c.105200T>C (p.Val35067Ala)
c.100598T>C (p.Val33533Ala)
c.100595T>C (p.Val33532Ala)
c.97637T>C (p.Val32546Ala)
c.79253T>C (p.Val26418Ala)
c.100748T>C (p.Val33583Ala)
c.100745T>C (p.Val33582Ala)
c.100178T>C (p.Val33393Ala)
c.97520T>C (p.Val32507Ala)
c.97439T>C (p.Val32480Ala)
c.79202T>C (p.Val26401Ala)
c.69056T>C (p.Val23019Ala)
2g.178530308A>TCA349406199TTN,TTN-AS1c.98603T>A (p.Val32868Asp)
c.79688T>A (p.Val26563Asp)
c.79487T>A (p.Val26496Asp)
c.79112T>A (p.Val26371Asp)
c.106307T>A (p.Val35436Asp)
c.101384T>A (p.Val33795Asp)
n.446+6672A>T
n.220-5424A>T
c.105404T>A (p.Val35135Asp)
c.79298T>A (p.Val26433Asp)
c.79157T>A (p.Val26386Asp)
c.105200T>A (p.Val35067Asp)
c.100598T>A (p.Val33533Asp)
c.100595T>A (p.Val33532Asp)
c.97637T>A (p.Val32546Asp)
c.79253T>A (p.Val26418Asp)
c.100748T>A (p.Val33583Asp)
c.100745T>A (p.Val33582Asp)
c.100178T>A (p.Val33393Asp)
c.97520T>A (p.Val32507Asp)
c.97439T>A (p.Val32480Asp)
c.79202T>A (p.Val26401Asp)
c.69056T>A (p.Val23019Asp)
2g.178530309C>ACA60953278TTN,TTN-AS1c.98602G>T (p.Val32868Phe)
c.79687G>T (p.Val26563Phe)
c.79486G>T (p.Val26496Phe)
c.79111G>T (p.Val26371Phe)
c.106306G>T (p.Val35436Phe)
c.101383G>T (p.Val33795Phe)
n.446+6673C>A
n.220-5423C>A
c.105403G>T (p.Val35135Phe)
c.79297G>T (p.Val26433Phe)
c.79156G>T (p.Val26386Phe)
c.105199G>T (p.Val35067Phe)
c.100597G>T (p.Val33533Phe)
c.100594G>T (p.Val33532Phe)
c.97636G>T (p.Val32546Phe)
c.79252G>T (p.Val26418Phe)
c.100747G>T (p.Val33583Phe)
c.100744G>T (p.Val33582Phe)
c.100177G>T (p.Val33393Phe)
c.97519G>T (p.Val32507Phe)
c.97438G>T (p.Val32480Phe)
c.79201G>T (p.Val26401Phe)
c.69055G>T (p.Val23019Phe)
 dbSNP
2g.178530309C=CA1310514505TTN,TTN-AS1c.98602G= (p.Val32868=)
c.79687G= (p.Val26563=)
c.79486G= (p.Val26496=)
c.79111G= (p.Val26371=)
c.106306G= (p.Val35436=)
c.101383G= (p.Val33795=)
n.446+6673C=
n.220-5423C=
c.105403G= (p.Val35135=)
c.79297G= (p.Val26433=)
c.79156G= (p.Val26386=)
c.105199G= (p.Val35067=)
c.100597G= (p.Val33533=)
c.100594G= (p.Val33532=)
c.97636G= (p.Val32546=)
c.79252G= (p.Val26418=)
c.100747G= (p.Val33583=)
c.100744G= (p.Val33582=)
c.100177G= (p.Val33393=)
c.97519G= (p.Val32507=)
c.97438G= (p.Val32480=)
c.79201G= (p.Val26401=)
c.69055G= (p.Val23019=)
2g.178530309C>GCA349406207TTN,TTN-AS1c.98602G>C (p.Val32868Leu)
c.79687G>C (p.Val26563Leu)
c.79486G>C (p.Val26496Leu)
c.79111G>C (p.Val26371Leu)
c.106306G>C (p.Val35436Leu)
c.101383G>C (p.Val33795Leu)
n.446+6673C>G
n.220-5423C>G
c.105403G>C (p.Val35135Leu)
c.79297G>C (p.Val26433Leu)
c.79156G>C (p.Val26386Leu)
c.105199G>C (p.Val35067Leu)
c.100597G>C (p.Val33533Leu)
c.100594G>C (p.Val33532Leu)
c.97636G>C (p.Val32546Leu)
c.79252G>C (p.Val26418Leu)
c.100747G>C (p.Val33583Leu)
c.100744G>C (p.Val33582Leu)
c.100177G>C (p.Val33393Leu)
c.97519G>C (p.Val32507Leu)
c.97438G>C (p.Val32480Leu)
c.79201G>C (p.Val26401Leu)
c.69055G>C (p.Val23019Leu)
2g.178530309C>TCA349406208TTN,TTN-AS1c.98602G>A (p.Val32868Ile)
c.79687G>A (p.Val26563Ile)
c.79486G>A (p.Val26496Ile)
c.79111G>A (p.Val26371Ile)
c.106306G>A (p.Val35436Ile)
c.101383G>A (p.Val33795Ile)
n.446+6673C>T
n.220-5423C>T
c.105403G>A (p.Val35135Ile)
c.79297G>A (p.Val26433Ile)
c.79156G>A (p.Val26386Ile)
c.105199G>A (p.Val35067Ile)
c.100597G>A (p.Val33533Ile)
c.100594G>A (p.Val33532Ile)
c.97636G>A (p.Val32546Ile)
c.79252G>A (p.Val26418Ile)
c.100747G>A (p.Val33583Ile)
c.100744G>A (p.Val33582Ile)
c.100177G>A (p.Val33393Ile)
c.97519G>A (p.Val32507Ile)
c.97438G>A (p.Val32480Ile)
c.79201G>A (p.Val26401Ile)
c.69055G>A (p.Val23019Ile)
2g.178530310A=CA1310514506TTN,TTN-AS1c.98601T= (p.Ser32867=)
c.79686T= (p.Ser26562=)
c.79485T= (p.Ser26495=)
c.79110T= (p.Ser26370=)
c.106305T= (p.Ser35435=)
c.101382T= (p.Ser33794=)
n.446+6674A=
n.220-5422A=
c.105402T= (p.Ser35134=)
c.79296T= (p.Ser26432=)
c.79155T= (p.Ser26385=)
c.105198T= (p.Ser35066=)
c.100596T= (p.Ser33532=)
c.100593T= (p.Ser33531=)
c.97635T= (p.Ser32545=)
c.79251T= (p.Ser26417=)
c.100746T= (p.Ser33582=)
c.100743T= (p.Ser33581=)
c.100176T= (p.Ser33392=)
c.97518T= (p.Ser32506=)
c.97437T= (p.Ser32479=)
c.79200T= (p.Ser26400=)
c.69054T= (p.Ser23018=)
2g.178530310A>CCA349406210TTN,TTN-AS1c.98601T>G (p.Ser32867Arg)
c.79686T>G (p.Ser26562Arg)
c.79485T>G (p.Ser26495Arg)
c.79110T>G (p.Ser26370Arg)
c.106305T>G (p.Ser35435Arg)
c.101382T>G (p.Ser33794Arg)
n.446+6674A>C
n.220-5422A>C
c.105402T>G (p.Ser35134Arg)
c.79296T>G (p.Ser26432Arg)
c.79155T>G (p.Ser26385Arg)
c.105198T>G (p.Ser35066Arg)
c.100596T>G (p.Ser33532Arg)
c.100593T>G (p.Ser33531Arg)
c.97635T>G (p.Ser32545Arg)
c.79251T>G (p.Ser26417Arg)
c.100746T>G (p.Ser33582Arg)
c.100743T>G (p.Ser33581Arg)
c.100176T>G (p.Ser33392Arg)
c.97518T>G (p.Ser32506Arg)
c.97437T>G (p.Ser32479Arg)
c.79200T>G (p.Ser26400Arg)
c.69054T>G (p.Ser23018Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178530310A>GCA430235114TTN,TTN-AS1c.98601T>C (p.Ser32867=)
c.79686T>C (p.Ser26562=)
c.79485T>C (p.Ser26495=)
c.79110T>C (p.Ser26370=)
c.106305T>C (p.Ser35435=)
c.101382T>C (p.Ser33794=)
n.446+6674A>G
n.220-5422A>G
c.105402T>C (p.Ser35134=)
c.79296T>C (p.Ser26432=)
c.79155T>C (p.Ser26385=)
c.105198T>C (p.Ser35066=)
c.100596T>C (p.Ser33532=)
c.100593T>C (p.Ser33531=)
c.97635T>C (p.Ser32545=)
c.79251T>C (p.Ser26417=)
c.100746T>C (p.Ser33582=)
c.100743T>C (p.Ser33581=)
c.100176T>C (p.Ser33392=)
c.97518T>C (p.Ser32506=)
c.97437T>C (p.Ser32479=)
c.79200T>C (p.Ser26400=)
c.69054T>C (p.Ser23018=)
2g.178530310A>TCA349406213TTN,TTN-AS1c.98601T>A (p.Ser32867Arg)
c.79686T>A (p.Ser26562Arg)
c.79485T>A (p.Ser26495Arg)
c.79110T>A (p.Ser26370Arg)
c.106305T>A (p.Ser35435Arg)
c.101382T>A (p.Ser33794Arg)
n.446+6674A>T
n.220-5422A>T
c.105402T>A (p.Ser35134Arg)
c.79296T>A (p.Ser26432Arg)
c.79155T>A (p.Ser26385Arg)
c.105198T>A (p.Ser35066Arg)
c.100596T>A (p.Ser33532Arg)
c.100593T>A (p.Ser33531Arg)
c.97635T>A (p.Ser32545Arg)
c.79251T>A (p.Ser26417Arg)
c.100746T>A (p.Ser33582Arg)
c.100743T>A (p.Ser33581Arg)
c.100176T>A (p.Ser33392Arg)
c.97518T>A (p.Ser32506Arg)
c.97437T>A (p.Ser32479Arg)
c.79200T>A (p.Ser26400Arg)
c.69054T>A (p.Ser23018Arg)
2g.178530311C>ACA349406214TTN,TTN-AS1c.98600G>T (p.Ser32867Ile)
c.79685G>T (p.Ser26562Ile)
c.79484G>T (p.Ser26495Ile)
c.79109G>T (p.Ser26370Ile)
c.106304G>T (p.Ser35435Ile)
c.101381G>T (p.Ser33794Ile)
n.446+6675C>A
n.220-5421C>A
c.105401G>T (p.Ser35134Ile)
c.79295G>T (p.Ser26432Ile)
c.79154G>T (p.Ser26385Ile)
c.105197G>T (p.Ser35066Ile)
c.100595G>T (p.Ser33532Ile)
c.100592G>T (p.Ser33531Ile)
c.97634G>T (p.Ser32545Ile)
c.79250G>T (p.Ser26417Ile)
c.100745G>T (p.Ser33582Ile)
c.100742G>T (p.Ser33581Ile)
c.100175G>T (p.Ser33392Ile)
c.97517G>T (p.Ser32506Ile)
c.97436G>T (p.Ser32479Ile)
c.79199G>T (p.Ser26400Ile)
c.69053G>T (p.Ser23018Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178530311C=CA1310514507TTN,TTN-AS1c.98600G= (p.Ser32867=)
c.79685G= (p.Ser26562=)
c.79484G= (p.Ser26495=)
c.79109G= (p.Ser26370=)
c.106304G= (p.Ser35435=)
c.101381G= (p.Ser33794=)
n.446+6675C=
n.220-5421C=
c.105401G= (p.Ser35134=)
c.79295G= (p.Ser26432=)
c.79154G= (p.Ser26385=)
c.105197G= (p.Ser35066=)
c.100595G= (p.Ser33532=)
c.100592G= (p.Ser33531=)
c.97634G= (p.Ser32545=)
c.79250G= (p.Ser26417=)
c.100745G= (p.Ser33582=)
c.100742G= (p.Ser33581=)
c.100175G= (p.Ser33392=)
c.97517G= (p.Ser32506=)
c.97436G= (p.Ser32479=)
c.79199G= (p.Ser26400=)
c.69053G= (p.Ser23018=)
2g.178530311C>GCA349406216TTN,TTN-AS1c.98600G>C (p.Ser32867Thr)
c.79685G>C (p.Ser26562Thr)
c.79484G>C (p.Ser26495Thr)
c.79109G>C (p.Ser26370Thr)
c.106304G>C (p.Ser35435Thr)
c.101381G>C (p.Ser33794Thr)
n.446+6675C>G
n.220-5421C>G
c.105401G>C (p.Ser35134Thr)
c.79295G>C (p.Ser26432Thr)
c.79154G>C (p.Ser26385Thr)
c.105197G>C (p.Ser35066Thr)
c.100595G>C (p.Ser33532Thr)
c.100592G>C (p.Ser33531Thr)
c.97634G>C (p.Ser32545Thr)
c.79250G>C (p.Ser26417Thr)
c.100745G>C (p.Ser33582Thr)
c.100742G>C (p.Ser33581Thr)
c.100175G>C (p.Ser33392Thr)
c.97517G>C (p.Ser32506Thr)
c.97436G>C (p.Ser32479Thr)
c.79199G>C (p.Ser26400Thr)
c.69053G>C (p.Ser23018Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178530311C>TCA349406218TTN,TTN-AS1c.98600G>A (p.Ser32867Asn)
c.79685G>A (p.Ser26562Asn)
c.79484G>A (p.Ser26495Asn)
c.79109G>A (p.Ser26370Asn)
c.106304G>A (p.Ser35435Asn)
c.101381G>A (p.Ser33794Asn)
n.446+6675C>T
n.220-5421C>T
c.105401G>A (p.Ser35134Asn)
c.79295G>A (p.Ser26432Asn)
c.79154G>A (p.Ser26385Asn)
c.105197G>A (p.Ser35066Asn)
c.100595G>A (p.Ser33532Asn)
c.100592G>A (p.Ser33531Asn)
c.97634G>A (p.Ser32545Asn)
c.79250G>A (p.Ser26417Asn)
c.100745G>A (p.Ser33582Asn)
c.100742G>A (p.Ser33581Asn)
c.100175G>A (p.Ser33392Asn)
c.97517G>A (p.Ser32506Asn)
c.97436G>A (p.Ser32479Asn)
c.79199G>A (p.Ser26400Asn)
c.69053G>A (p.Ser23018Asn)
 ClinVar dbSNP gnomAD v4
2g.178530312T>ACA349406222TTN,TTN-AS1c.98599A>T (p.Ser32867Cys)
c.79684A>T (p.Ser26562Cys)
c.79483A>T (p.Ser26495Cys)
c.79108A>T (p.Ser26370Cys)
c.106303A>T (p.Ser35435Cys)
c.101380A>T (p.Ser33794Cys)
n.446+6676T>A
n.220-5420T>A
c.105400A>T (p.Ser35134Cys)
c.79294A>T (p.Ser26432Cys)
c.79153A>T (p.Ser26385Cys)
c.105196A>T (p.Ser35066Cys)
c.100594A>T (p.Ser33532Cys)
c.100591A>T (p.Ser33531Cys)
c.97633A>T (p.Ser32545Cys)
c.79249A>T (p.Ser26417Cys)
c.100744A>T (p.Ser33582Cys)
c.100741A>T (p.Ser33581Cys)
c.100174A>T (p.Ser33392Cys)
c.97516A>T (p.Ser32506Cys)
c.97435A>T (p.Ser32479Cys)
c.79198A>T (p.Ser26400Cys)
c.69052A>T (p.Ser23018Cys)
2g.178530312T>CCA349406226TTN,TTN-AS1c.98599A>G (p.Ser32867Gly)
c.79684A>G (p.Ser26562Gly)
c.79483A>G (p.Ser26495Gly)
c.79108A>G (p.Ser26370Gly)
c.106303A>G (p.Ser35435Gly)
c.101380A>G (p.Ser33794Gly)
n.446+6676T>C
n.220-5420T>C
c.105400A>G (p.Ser35134Gly)
c.79294A>G (p.Ser26432Gly)
c.79153A>G (p.Ser26385Gly)
c.105196A>G (p.Ser35066Gly)
c.100594A>G (p.Ser33532Gly)
c.100591A>G (p.Ser33531Gly)
c.97633A>G (p.Ser32545Gly)
c.79249A>G (p.Ser26417Gly)
c.100744A>G (p.Ser33582Gly)
c.100741A>G (p.Ser33581Gly)
c.100174A>G (p.Ser33392Gly)
c.97516A>G (p.Ser32506Gly)
c.97435A>G (p.Ser32479Gly)
c.79198A>G (p.Ser26400Gly)
c.69052A>G (p.Ser23018Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178530312T>GCA349406227TTN,TTN-AS1c.98599A>C (p.Ser32867Arg)
c.79684A>C (p.Ser26562Arg)
c.79483A>C (p.Ser26495Arg)
c.79108A>C (p.Ser26370Arg)
c.106303A>C (p.Ser35435Arg)
c.101380A>C (p.Ser33794Arg)
n.446+6676T>G
n.220-5420T>G
c.105400A>C (p.Ser35134Arg)
c.79294A>C (p.Ser26432Arg)
c.79153A>C (p.Ser26385Arg)
c.105196A>C (p.Ser35066Arg)
c.100594A>C (p.Ser33532Arg)
c.100591A>C (p.Ser33531Arg)
c.97633A>C (p.Ser32545Arg)
c.79249A>C (p.Ser26417Arg)
c.100744A>C (p.Ser33582Arg)
c.100741A>C (p.Ser33581Arg)
c.100174A>C (p.Ser33392Arg)
c.97516A>C (p.Ser32506Arg)
c.97435A>C (p.Ser32479Arg)
c.79198A>C (p.Ser26400Arg)
c.69052A>C (p.Ser23018Arg)
2g.178530312T=CA1310514508TTN,TTN-AS1c.98599A= (p.Ser32867=)
c.79684A= (p.Ser26562=)
c.79483A= (p.Ser26495=)
c.79108A= (p.Ser26370=)
c.106303A= (p.Ser35435=)
c.101380A= (p.Ser33794=)
n.446+6676T=
n.220-5420T=
c.105400A= (p.Ser35134=)
c.79294A= (p.Ser26432=)
c.79153A= (p.Ser26385=)
c.105196A= (p.Ser35066=)
c.100594A= (p.Ser33532=)
c.100591A= (p.Ser33531=)
c.97633A= (p.Ser32545=)
c.79249A= (p.Ser26417=)
c.100744A= (p.Ser33582=)
c.100741A= (p.Ser33581=)
c.100174A= (p.Ser33392=)
c.97516A= (p.Ser32506=)
c.97435A= (p.Ser32479=)
c.79198A= (p.Ser26400=)
c.69052A= (p.Ser23018=)
2g.178530313G>ACA430235119TTN,TTN-AS1c.98598C>T (p.Asp32866=)
c.79683C>T (p.Asp26561=)
c.79482C>T (p.Asp26494=)
c.79107C>T (p.Asp26369=)
c.106302C>T (p.Asp35434=)
c.101379C>T (p.Asp33793=)
n.446+6677G>A
n.220-5419G>A
c.105399C>T (p.Asp35133=)
c.79293C>T (p.Asp26431=)
c.79152C>T (p.Asp26384=)
c.105195C>T (p.Asp35065=)
c.100593C>T (p.Asp33531=)
c.100590C>T (p.Asp33530=)
c.97632C>T (p.Asp32544=)
c.79248C>T (p.Asp26416=)
c.100743C>T (p.Asp33581=)
c.100740C>T (p.Asp33580=)
c.100173C>T (p.Asp33391=)
c.97515C>T (p.Asp32505=)
c.97434C>T (p.Asp32478=)
c.79197C>T (p.Asp26399=)
c.69051C>T (p.Asp23017=)
 ClinVar dbSNP
2g.178530313G>CCA349406230TTN,TTN-AS1c.98598C>G (p.Asp32866Glu)
c.79683C>G (p.Asp26561Glu)
c.79482C>G (p.Asp26494Glu)
c.79107C>G (p.Asp26369Glu)
c.106302C>G (p.Asp35434Glu)
c.101379C>G (p.Asp33793Glu)
n.446+6677G>C
n.220-5419G>C
c.105399C>G (p.Asp35133Glu)
c.79293C>G (p.Asp26431Glu)
c.79152C>G (p.Asp26384Glu)
c.105195C>G (p.Asp35065Glu)
c.100593C>G (p.Asp33531Glu)
c.100590C>G (p.Asp33530Glu)
c.97632C>G (p.Asp32544Glu)
c.79248C>G (p.Asp26416Glu)
c.100743C>G (p.Asp33581Glu)
c.100740C>G (p.Asp33580Glu)
c.100173C>G (p.Asp33391Glu)
c.97515C>G (p.Asp32505Glu)
c.97434C>G (p.Asp32478Glu)
c.79197C>G (p.Asp26399Glu)
c.69051C>G (p.Asp23017Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530313G=CA1310514509TTN,TTN-AS1c.98598C= (p.Asp32866=)
c.79683C= (p.Asp26561=)
c.79482C= (p.Asp26494=)
c.79107C= (p.Asp26369=)
c.106302C= (p.Asp35434=)
c.101379C= (p.Asp33793=)
n.446+6677G=
n.220-5419G=
c.105399C= (p.Asp35133=)
c.79293C= (p.Asp26431=)
c.79152C= (p.Asp26384=)
c.105195C= (p.Asp35065=)
c.100593C= (p.Asp33531=)
c.100590C= (p.Asp33530=)
c.97632C= (p.Asp32544=)
c.79248C= (p.Asp26416=)
c.100743C= (p.Asp33581=)
c.100740C= (p.Asp33580=)
c.100173C= (p.Asp33391=)
c.97515C= (p.Asp32505=)
c.97434C= (p.Asp32478=)
c.79197C= (p.Asp26399=)
c.69051C= (p.Asp23017=)
2g.178530313G>TCA349406233TTN,TTN-AS1c.98598C>A (p.Asp32866Glu)
c.79683C>A (p.Asp26561Glu)
c.79482C>A (p.Asp26494Glu)
c.79107C>A (p.Asp26369Glu)
c.106302C>A (p.Asp35434Glu)
c.101379C>A (p.Asp33793Glu)
n.446+6677G>T
n.220-5419G>T
c.105399C>A (p.Asp35133Glu)
c.79293C>A (p.Asp26431Glu)
c.79152C>A (p.Asp26384Glu)
c.105195C>A (p.Asp35065Glu)
c.100593C>A (p.Asp33531Glu)
c.100590C>A (p.Asp33530Glu)
c.97632C>A (p.Asp32544Glu)
c.79248C>A (p.Asp26416Glu)
c.100743C>A (p.Asp33581Glu)
c.100740C>A (p.Asp33580Glu)
c.100173C>A (p.Asp33391Glu)
c.97515C>A (p.Asp32505Glu)
c.97434C>A (p.Asp32478Glu)
c.79197C>A (p.Asp26399Glu)
c.69051C>A (p.Asp23017Glu)
2g.178530314T>ACA349406237TTN,TTN-AS1c.98597A>T (p.Asp32866Val)
c.79682A>T (p.Asp26561Val)
c.79481A>T (p.Asp26494Val)
c.79106A>T (p.Asp26369Val)
c.106301A>T (p.Asp35434Val)
c.101378A>T (p.Asp33793Val)
n.446+6678T>A
n.220-5418T>A
c.105398A>T (p.Asp35133Val)
c.79292A>T (p.Asp26431Val)
c.79151A>T (p.Asp26384Val)
c.105194A>T (p.Asp35065Val)
c.100592A>T (p.Asp33531Val)
c.100589A>T (p.Asp33530Val)
c.97631A>T (p.Asp32544Val)
c.79247A>T (p.Asp26416Val)
c.100742A>T (p.Asp33581Val)
c.100739A>T (p.Asp33580Val)
c.100172A>T (p.Asp33391Val)
c.97514A>T (p.Asp32505Val)
c.97433A>T (p.Asp32478Val)
c.79196A>T (p.Asp26399Val)
c.69050A>T (p.Asp23017Val)
2g.178530314T>CCA349406242TTN,TTN-AS1c.98597A>G (p.Asp32866Gly)
c.79682A>G (p.Asp26561Gly)
c.79481A>G (p.Asp26494Gly)
c.79106A>G (p.Asp26369Gly)
c.106301A>G (p.Asp35434Gly)
c.101378A>G (p.Asp33793Gly)
n.446+6678T>C
n.220-5418T>C
c.105398A>G (p.Asp35133Gly)
c.79292A>G (p.Asp26431Gly)
c.79151A>G (p.Asp26384Gly)
c.105194A>G (p.Asp35065Gly)
c.100592A>G (p.Asp33531Gly)
c.100589A>G (p.Asp33530Gly)
c.97631A>G (p.Asp32544Gly)
c.79247A>G (p.Asp26416Gly)
c.100742A>G (p.Asp33581Gly)
c.100739A>G (p.Asp33580Gly)
c.100172A>G (p.Asp33391Gly)
c.97514A>G (p.Asp32505Gly)
c.97433A>G (p.Asp32478Gly)
c.79196A>G (p.Asp26399Gly)
c.69050A>G (p.Asp23017Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530314T>GCA349406239TTN,TTN-AS1c.98597A>C (p.Asp32866Ala)
c.79682A>C (p.Asp26561Ala)
c.79481A>C (p.Asp26494Ala)
c.79106A>C (p.Asp26369Ala)
c.106301A>C (p.Asp35434Ala)
c.101378A>C (p.Asp33793Ala)
n.446+6678T>G
n.220-5418T>G
c.105398A>C (p.Asp35133Ala)
c.79292A>C (p.Asp26431Ala)
c.79151A>C (p.Asp26384Ala)
c.105194A>C (p.Asp35065Ala)
c.100592A>C (p.Asp33531Ala)
c.100589A>C (p.Asp33530Ala)
c.97631A>C (p.Asp32544Ala)
c.79247A>C (p.Asp26416Ala)
c.100742A>C (p.Asp33581Ala)
c.100739A>C (p.Asp33580Ala)
c.100172A>C (p.Asp33391Ala)
c.97514A>C (p.Asp32505Ala)
c.97433A>C (p.Asp32478Ala)
c.79196A>C (p.Asp26399Ala)
c.69050A>C (p.Asp23017Ala)
2g.178530314T=CA1310514510TTN,TTN-AS1c.98597A= (p.Asp32866=)
c.79682A= (p.Asp26561=)
c.79481A= (p.Asp26494=)
c.79106A= (p.Asp26369=)
c.106301A= (p.Asp35434=)
c.101378A= (p.Asp33793=)
n.446+6678T=
n.220-5418T=
c.105398A= (p.Asp35133=)
c.79292A= (p.Asp26431=)
c.79151A= (p.Asp26384=)
c.105194A= (p.Asp35065=)
c.100592A= (p.Asp33531=)
c.100589A= (p.Asp33530=)
c.97631A= (p.Asp32544=)
c.79247A= (p.Asp26416=)
c.100742A= (p.Asp33581=)
c.100739A= (p.Asp33580=)
c.100172A= (p.Asp33391=)
c.97514A= (p.Asp32505=)
c.97433A= (p.Asp32478=)
c.79196A= (p.Asp26399=)
c.69050A= (p.Asp23017=)
2g.178530315C>ACA349406246TTN,TTN-AS1c.98596G>T (p.Asp32866Tyr)
c.79681G>T (p.Asp26561Tyr)
c.79480G>T (p.Asp26494Tyr)
c.79105G>T (p.Asp26369Tyr)
c.106300G>T (p.Asp35434Tyr)
c.101377G>T (p.Asp33793Tyr)
n.446+6679C>A
n.220-5417C>A
c.105397G>T (p.Asp35133Tyr)
c.79291G>T (p.Asp26431Tyr)
c.79150G>T (p.Asp26384Tyr)
c.105193G>T (p.Asp35065Tyr)
c.100591G>T (p.Asp33531Tyr)
c.100588G>T (p.Asp33530Tyr)
c.97630G>T (p.Asp32544Tyr)
c.79246G>T (p.Asp26416Tyr)
c.100741G>T (p.Asp33581Tyr)
c.100738G>T (p.Asp33580Tyr)
c.100171G>T (p.Asp33391Tyr)
c.97513G>T (p.Asp32505Tyr)
c.97432G>T (p.Asp32478Tyr)
c.79195G>T (p.Asp26399Tyr)
c.69049G>T (p.Asp23017Tyr)
 gnomAD v4
2g.178530315C=CA1310514511TTN,TTN-AS1c.98596G= (p.Asp32866=)
c.79681G= (p.Asp26561=)
c.79480G= (p.Asp26494=)
c.79105G= (p.Asp26369=)
c.106300G= (p.Asp35434=)
c.101377G= (p.Asp33793=)
n.446+6679C=
n.220-5417C=
c.105397G= (p.Asp35133=)
c.79291G= (p.Asp26431=)
c.79150G= (p.Asp26384=)
c.105193G= (p.Asp35065=)
c.100591G= (p.Asp33531=)
c.100588G= (p.Asp33530=)
c.97630G= (p.Asp32544=)
c.79246G= (p.Asp26416=)
c.100741G= (p.Asp33581=)
c.100738G= (p.Asp33580=)
c.100171G= (p.Asp33391=)
c.97513G= (p.Asp32505=)
c.97432G= (p.Asp32478=)
c.79195G= (p.Asp26399=)
c.69049G= (p.Asp23017=)
2g.178530315C>GCA1985132TTN,TTN-AS1c.98596G>C (p.Asp32866His)
c.79681G>C (p.Asp26561His)
c.79480G>C (p.Asp26494His)
c.79105G>C (p.Asp26369His)
c.106300G>C (p.Asp35434His)
c.101377G>C (p.Asp33793His)
n.446+6679C>G
n.220-5417C>G
c.105397G>C (p.Asp35133His)
c.79291G>C (p.Asp26431His)
c.79150G>C (p.Asp26384His)
c.105193G>C (p.Asp35065His)
c.100591G>C (p.Asp33531His)
c.100588G>C (p.Asp33530His)
c.97630G>C (p.Asp32544His)
c.79246G>C (p.Asp26416His)
c.100741G>C (p.Asp33581His)
c.100738G>C (p.Asp33580His)
c.100171G>C (p.Asp33391His)
c.97513G>C (p.Asp32505His)
c.97432G>C (p.Asp32478His)
c.79195G>C (p.Asp26399His)
c.69049G>C (p.Asp23017His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530315C>TCA349406248TTN,TTN-AS1c.98596G>A (p.Asp32866Asn)
c.79681G>A (p.Asp26561Asn)
c.79480G>A (p.Asp26494Asn)
c.79105G>A (p.Asp26369Asn)
c.106300G>A (p.Asp35434Asn)
c.101377G>A (p.Asp33793Asn)
n.446+6679C>T
n.220-5417C>T
c.105397G>A (p.Asp35133Asn)
c.79291G>A (p.Asp26431Asn)
c.79150G>A (p.Asp26384Asn)
c.105193G>A (p.Asp35065Asn)
c.100591G>A (p.Asp33531Asn)
c.100588G>A (p.Asp33530Asn)
c.97630G>A (p.Asp32544Asn)
c.79246G>A (p.Asp26416Asn)
c.100741G>A (p.Asp33581Asn)
c.100738G>A (p.Asp33580Asn)
c.100171G>A (p.Asp33391Asn)
c.97513G>A (p.Asp32505Asn)
c.97432G>A (p.Asp32478Asn)
c.79195G>A (p.Asp26399Asn)
c.69049G>A (p.Asp23017Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178530316T>ACA430235123TTN,TTN-AS1c.98595A>T (p.Ser32865=)
c.79680A>T (p.Ser26560=)
c.79479A>T (p.Ser26493=)
c.79104A>T (p.Ser26368=)
c.106299A>T (p.Ser35433=)
c.101376A>T (p.Ser33792=)
n.446+6680T>A
n.220-5416T>A
c.105396A>T (p.Ser35132=)
c.79290A>T (p.Ser26430=)
c.79149A>T (p.Ser26383=)
c.105192A>T (p.Ser35064=)
c.100590A>T (p.Ser33530=)
c.100587A>T (p.Ser33529=)
c.97629A>T (p.Ser32543=)
c.79245A>T (p.Ser26415=)
c.100740A>T (p.Ser33580=)
c.100737A>T (p.Ser33579=)
c.100170A>T (p.Ser33390=)
c.97512A>T (p.Ser32504=)
c.97431A>T (p.Ser32477=)
c.79194A>T (p.Ser26398=)
c.69048A>T (p.Ser23016=)
2g.178530316T>CCA430235124TTN,TTN-AS1c.98595A>G (p.Ser32865=)
c.79680A>G (p.Ser26560=)
c.79479A>G (p.Ser26493=)
c.79104A>G (p.Ser26368=)
c.106299A>G (p.Ser35433=)
c.101376A>G (p.Ser33792=)
n.446+6680T>C
n.220-5416T>C
c.105396A>G (p.Ser35132=)
c.79290A>G (p.Ser26430=)
c.79149A>G (p.Ser26383=)
c.105192A>G (p.Ser35064=)
c.100590A>G (p.Ser33530=)
c.100587A>G (p.Ser33529=)
c.97629A>G (p.Ser32543=)
c.79245A>G (p.Ser26415=)
c.100740A>G (p.Ser33580=)
c.100737A>G (p.Ser33579=)
c.100170A>G (p.Ser33390=)
c.97512A>G (p.Ser32504=)
c.97431A>G (p.Ser32477=)
c.79194A>G (p.Ser26398=)
c.69048A>G (p.Ser23016=)
2g.178530316T>GCA430235125TTN,TTN-AS1c.98595A>C (p.Ser32865=)
c.79680A>C (p.Ser26560=)
c.79479A>C (p.Ser26493=)
c.79104A>C (p.Ser26368=)
c.106299A>C (p.Ser35433=)
c.101376A>C (p.Ser33792=)
n.446+6680T>G
n.220-5416T>G
c.105396A>C (p.Ser35132=)
c.79290A>C (p.Ser26430=)
c.79149A>C (p.Ser26383=)
c.105192A>C (p.Ser35064=)
c.100590A>C (p.Ser33530=)
c.100587A>C (p.Ser33529=)
c.97629A>C (p.Ser32543=)
c.79245A>C (p.Ser26415=)
c.100740A>C (p.Ser33580=)
c.100737A>C (p.Ser33579=)
c.100170A>C (p.Ser33390=)
c.97512A>C (p.Ser32504=)
c.97431A>C (p.Ser32477=)
c.79194A>C (p.Ser26398=)
c.69048A>C (p.Ser23016=)
2g.178530316_178530319delinsTGAACA1310514512TTN,TTN-AS1c.98592_98595delinsTTCA (p.Ser32864=)
c.79677_79680delinsTTCA (p.Ser26559=)
c.79476_79479delinsTTCA (p.Ser26492=)
c.79101_79104delinsTTCA (p.Ser26367=)
c.106296_106299delinsTTCA (p.Ser35432=)
c.101373_101376delinsTTCA (p.Ser33791=)
n.446+6680_446+6683delinsTGAA
n.220-5416_220-5413delinsTGAA
c.105393_105396delinsTTCA (p.Ser35131=)
c.79287_79290delinsTTCA (p.Ser26429=)
c.79146_79149delinsTTCA (p.Ser26382=)
c.105189_105192delinsTTCA (p.Ser35063=)
c.100587_100590delinsTTCA (p.Ser33529=)
c.100584_100587delinsTTCA (p.Ser33528=)
c.97626_97629delinsTTCA (p.Ser32542=)
c.79242_79245delinsTTCA (p.Ser26414=)
c.100737_100740delinsTTCA (p.Ser33579=)
c.100734_100737delinsTTCA (p.Ser33578=)
c.100167_100170delinsTTCA (p.Ser33389=)
c.97509_97512delinsTTCA (p.Ser32503=)
c.97428_97431delinsTTCA (p.Ser32476=)
c.79191_79194delinsTTCA (p.Ser26397=)
c.69045_69048delinsTTCA (p.Ser23015=)
2g.178530317G>ACA349406257TTN,TTN-AS1c.98594C>T (p.Ser32865Leu)
c.79679C>T (p.Ser26560Leu)
c.79478C>T (p.Ser26493Leu)
c.79103C>T (p.Ser26368Leu)
c.106298C>T (p.Ser35433Leu)
c.101375C>T (p.Ser33792Leu)
n.446+6681G>A
n.220-5415G>A
c.105395C>T (p.Ser35132Leu)
c.79289C>T (p.Ser26430Leu)
c.79148C>T (p.Ser26383Leu)
c.105191C>T (p.Ser35064Leu)
c.100589C>T (p.Ser33530Leu)
c.100586C>T (p.Ser33529Leu)
c.97628C>T (p.Ser32543Leu)
c.79244C>T (p.Ser26415Leu)
c.100739C>T (p.Ser33580Leu)
c.100736C>T (p.Ser33579Leu)
c.100169C>T (p.Ser33390Leu)
c.97511C>T (p.Ser32504Leu)
c.97430C>T (p.Ser32477Leu)
c.79193C>T (p.Ser26398Leu)
c.69047C>T (p.Ser23016Leu)
 gnomAD v4
2g.178530317G>CCA349406258TTN,TTN-AS1c.98594C>G (p.Ser32865Ter)
c.79679C>G (p.Ser26560Ter)
c.79478C>G (p.Ser26493Ter)
c.79103C>G (p.Ser26368Ter)
c.106298C>G (p.Ser35433Ter)
c.101375C>G (p.Ser33792Ter)
n.446+6681G>C
n.220-5415G>C
c.105395C>G (p.Ser35132Ter)
c.79289C>G (p.Ser26430Ter)
c.79148C>G (p.Ser26383Ter)
c.105191C>G (p.Ser35064Ter)
c.100589C>G (p.Ser33530Ter)
c.100586C>G (p.Ser33529Ter)
c.97628C>G (p.Ser32543Ter)
c.79244C>G (p.Ser26415Ter)
c.100739C>G (p.Ser33580Ter)
c.100736C>G (p.Ser33579Ter)
c.100169C>G (p.Ser33390Ter)
c.97511C>G (p.Ser32504Ter)
c.97430C>G (p.Ser32477Ter)
c.79193C>G (p.Ser26398Ter)
c.69047C>G (p.Ser23016Ter)
2g.178530317G>TCA349406260TTN,TTN-AS1c.98594C>A (p.Ser32865Ter)
c.79679C>A (p.Ser26560Ter)
c.79478C>A (p.Ser26493Ter)
c.79103C>A (p.Ser26368Ter)
c.106298C>A (p.Ser35433Ter)
c.101375C>A (p.Ser33792Ter)
n.446+6681G>T
n.220-5415G>T
c.105395C>A (p.Ser35132Ter)
c.79289C>A (p.Ser26430Ter)
c.79148C>A (p.Ser26383Ter)
c.105191C>A (p.Ser35064Ter)
c.100589C>A (p.Ser33530Ter)
c.100586C>A (p.Ser33529Ter)
c.97628C>A (p.Ser32543Ter)
c.79244C>A (p.Ser26415Ter)
c.100739C>A (p.Ser33580Ter)
c.100736C>A (p.Ser33579Ter)
c.100169C>A (p.Ser33390Ter)
c.97511C>A (p.Ser32504Ter)
c.97430C>A (p.Ser32477Ter)
c.79193C>A (p.Ser26398Ter)
c.69047C>A (p.Ser23016Ter)
2g.178530320_178530322delCA538434976TTN,TTN-AS1c.98592_98594del (p.Ser32865del)
c.79677_79679del (p.Ser26560del)
c.79476_79478del (p.Ser26493del)
c.79101_79103del (p.Ser26368del)
c.106296_106298del (p.Ser35433del)
c.101373_101375del (p.Ser33792del)
n.446+6684_446+6686del
n.220-5412_220-5410del
c.105393_105395del (p.Ser35132del)
c.79287_79289del (p.Ser26430del)
c.79146_79148del (p.Ser26383del)
c.105189_105191del (p.Ser35064del)
c.100587_100589del (p.Ser33530del)
c.100584_100586del (p.Ser33529del)
c.97626_97628del (p.Ser32543del)
c.79242_79244del (p.Ser26415del)
c.100737_100739del (p.Ser33580del)
c.100734_100736del (p.Ser33579del)
c.100167_100169del (p.Ser33390del)
c.97509_97511del (p.Ser32504del)
c.97428_97430del (p.Ser32477del)
c.79191_79193del (p.Ser26398del)
c.69045_69047del (p.Ser23016del)
 dbSNP gnomAD v2 gnomAD v4
2g.178530318A>CCA349406262TTN,TTN-AS1c.98593T>G (p.Ser32865Ala)
c.79678T>G (p.Ser26560Ala)
c.79477T>G (p.Ser26493Ala)
c.79102T>G (p.Ser26368Ala)
c.106297T>G (p.Ser35433Ala)
c.101374T>G (p.Ser33792Ala)
n.446+6682A>C
n.220-5414A>C
c.105394T>G (p.Ser35132Ala)
c.79288T>G (p.Ser26430Ala)
c.79147T>G (p.Ser26383Ala)
c.105190T>G (p.Ser35064Ala)
c.100588T>G (p.Ser33530Ala)
c.100585T>G (p.Ser33529Ala)
c.97627T>G (p.Ser32543Ala)
c.79243T>G (p.Ser26415Ala)
c.100738T>G (p.Ser33580Ala)
c.100735T>G (p.Ser33579Ala)
c.100168T>G (p.Ser33390Ala)
c.97510T>G (p.Ser32504Ala)
c.97429T>G (p.Ser32477Ala)
c.79192T>G (p.Ser26398Ala)
c.69046T>G (p.Ser23016Ala)
2g.178530318A>GCA349406263TTN,TTN-AS1c.98593T>C (p.Ser32865Pro)
c.79678T>C (p.Ser26560Pro)
c.79477T>C (p.Ser26493Pro)
c.79102T>C (p.Ser26368Pro)
c.106297T>C (p.Ser35433Pro)
c.101374T>C (p.Ser33792Pro)
n.446+6682A>G
n.220-5414A>G
c.105394T>C (p.Ser35132Pro)
c.79288T>C (p.Ser26430Pro)
c.79147T>C (p.Ser26383Pro)
c.105190T>C (p.Ser35064Pro)
c.100588T>C (p.Ser33530Pro)
c.100585T>C (p.Ser33529Pro)
c.97627T>C (p.Ser32543Pro)
c.79243T>C (p.Ser26415Pro)
c.100738T>C (p.Ser33580Pro)
c.100735T>C (p.Ser33579Pro)
c.100168T>C (p.Ser33390Pro)
c.97510T>C (p.Ser32504Pro)
c.97429T>C (p.Ser32477Pro)
c.79192T>C (p.Ser26398Pro)
c.69046T>C (p.Ser23016Pro)
2g.178530318A>TCA349406265TTN,TTN-AS1c.98593T>A (p.Ser32865Thr)
c.79678T>A (p.Ser26560Thr)
c.79477T>A (p.Ser26493Thr)
c.79102T>A (p.Ser26368Thr)
c.106297T>A (p.Ser35433Thr)
c.101374T>A (p.Ser33792Thr)
n.446+6682A>T
n.220-5414A>T
c.105394T>A (p.Ser35132Thr)
c.79288T>A (p.Ser26430Thr)
c.79147T>A (p.Ser26383Thr)
c.105190T>A (p.Ser35064Thr)
c.100588T>A (p.Ser33530Thr)
c.100585T>A (p.Ser33529Thr)
c.97627T>A (p.Ser32543Thr)
c.79243T>A (p.Ser26415Thr)
c.100738T>A (p.Ser33580Thr)
c.100735T>A (p.Ser33579Thr)
c.100168T>A (p.Ser33390Thr)
c.97510T>A (p.Ser32504Thr)
c.97429T>A (p.Ser32477Thr)
c.79192T>A (p.Ser26398Thr)
c.69046T>A (p.Ser23016Thr)
2g.178530319A>CCA430235129TTN,TTN-AS1c.98592T>G (p.Ser32864=)
c.79677T>G (p.Ser26559=)
c.79476T>G (p.Ser26492=)
c.79101T>G (p.Ser26367=)
c.106296T>G (p.Ser35432=)
c.101373T>G (p.Ser33791=)
n.446+6683A>C
n.220-5413A>C
c.105393T>G (p.Ser35131=)
c.79287T>G (p.Ser26429=)
c.79146T>G (p.Ser26382=)
c.105189T>G (p.Ser35063=)
c.100587T>G (p.Ser33529=)
c.100584T>G (p.Ser33528=)
c.97626T>G (p.Ser32542=)
c.79242T>G (p.Ser26414=)
c.100737T>G (p.Ser33579=)
c.100734T>G (p.Ser33578=)
c.100167T>G (p.Ser33389=)
c.97509T>G (p.Ser32503=)
c.97428T>G (p.Ser32476=)
c.79191T>G (p.Ser26397=)
c.69045T>G (p.Ser23015=)
2g.178530319A>GCA430235131TTN,TTN-AS1c.98592T>C (p.Ser32864=)
c.79677T>C (p.Ser26559=)
c.79476T>C (p.Ser26492=)
c.79101T>C (p.Ser26367=)
c.106296T>C (p.Ser35432=)
c.101373T>C (p.Ser33791=)
n.446+6683A>G
n.220-5413A>G
c.105393T>C (p.Ser35131=)
c.79287T>C (p.Ser26429=)
c.79146T>C (p.Ser26382=)
c.105189T>C (p.Ser35063=)
c.100587T>C (p.Ser33529=)
c.100584T>C (p.Ser33528=)
c.97626T>C (p.Ser32542=)
c.79242T>C (p.Ser26414=)
c.100737T>C (p.Ser33579=)
c.100734T>C (p.Ser33578=)
c.100167T>C (p.Ser33389=)
c.97509T>C (p.Ser32503=)
c.97428T>C (p.Ser32476=)
c.79191T>C (p.Ser26397=)
c.69045T>C (p.Ser23015=)
 ClinVar
2g.178530319A>TCA430235132TTN,TTN-AS1c.98592T>A (p.Ser32864=)
c.79677T>A (p.Ser26559=)
c.79476T>A (p.Ser26492=)
c.79101T>A (p.Ser26367=)
c.106296T>A (p.Ser35432=)
c.101373T>A (p.Ser33791=)
n.446+6683A>T
n.220-5413A>T
c.105393T>A (p.Ser35131=)
c.79287T>A (p.Ser26429=)
c.79146T>A (p.Ser26382=)
c.105189T>A (p.Ser35063=)
c.100587T>A (p.Ser33529=)
c.100584T>A (p.Ser33528=)
c.97626T>A (p.Ser32542=)
c.79242T>A (p.Ser26414=)
c.100737T>A (p.Ser33579=)
c.100734T>A (p.Ser33578=)
c.100167T>A (p.Ser33389=)
c.97509T>A (p.Ser32503=)
c.97428T>A (p.Ser32476=)
c.79191T>A (p.Ser26397=)
c.69045T>A (p.Ser23015=)
2g.178530320G>ACA349406274TTN,TTN-AS1c.98591C>T (p.Ser32864Phe)
c.79676C>T (p.Ser26559Phe)
c.79475C>T (p.Ser26492Phe)
c.79100C>T (p.Ser26367Phe)
c.106295C>T (p.Ser35432Phe)
c.101372C>T (p.Ser33791Phe)
n.446+6684G>A
n.220-5412G>A
c.105392C>T (p.Ser35131Phe)
c.79286C>T (p.Ser26429Phe)
c.79145C>T (p.Ser26382Phe)
c.105188C>T (p.Ser35063Phe)
c.100586C>T (p.Ser33529Phe)
c.100583C>T (p.Ser33528Phe)
c.97625C>T (p.Ser32542Phe)
c.79241C>T (p.Ser26414Phe)
c.100736C>T (p.Ser33579Phe)
c.100733C>T (p.Ser33578Phe)
c.100166C>T (p.Ser33389Phe)
c.97508C>T (p.Ser32503Phe)
c.97427C>T (p.Ser32476Phe)
c.79190C>T (p.Ser26397Phe)
c.69044C>T (p.Ser23015Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530320G>CCA349406272TTN,TTN-AS1c.98591C>G (p.Ser32864Cys)
c.79676C>G (p.Ser26559Cys)
c.79475C>G (p.Ser26492Cys)
c.79100C>G (p.Ser26367Cys)
c.106295C>G (p.Ser35432Cys)
c.101372C>G (p.Ser33791Cys)
n.446+6684G>C
n.220-5412G>C
c.105392C>G (p.Ser35131Cys)
c.79286C>G (p.Ser26429Cys)
c.79145C>G (p.Ser26382Cys)
c.105188C>G (p.Ser35063Cys)
c.100586C>G (p.Ser33529Cys)
c.100583C>G (p.Ser33528Cys)
c.97625C>G (p.Ser32542Cys)
c.79241C>G (p.Ser26414Cys)
c.100736C>G (p.Ser33579Cys)
c.100733C>G (p.Ser33578Cys)
c.100166C>G (p.Ser33389Cys)
c.97508C>G (p.Ser32503Cys)
c.97427C>G (p.Ser32476Cys)
c.79190C>G (p.Ser26397Cys)
c.69044C>G (p.Ser23015Cys)
2g.178530320G=CA1310514513TTN,TTN-AS1c.98591C= (p.Ser32864=)
c.79676C= (p.Ser26559=)
c.79475C= (p.Ser26492=)
c.79100C= (p.Ser26367=)
c.106295C= (p.Ser35432=)
c.101372C= (p.Ser33791=)
n.446+6684G=
n.220-5412G=
c.105392C= (p.Ser35131=)
c.79286C= (p.Ser26429=)
c.79145C= (p.Ser26382=)
c.105188C= (p.Ser35063=)
c.100586C= (p.Ser33529=)
c.100583C= (p.Ser33528=)
c.97625C= (p.Ser32542=)
c.79241C= (p.Ser26414=)
c.100736C= (p.Ser33579=)
c.100733C= (p.Ser33578=)
c.100166C= (p.Ser33389=)
c.97508C= (p.Ser32503=)
c.97427C= (p.Ser32476=)
c.79190C= (p.Ser26397=)
c.69044C= (p.Ser23015=)
2g.178530320G>TCA1985133TTN,TTN-AS1c.98591C>A (p.Ser32864Tyr)
c.79676C>A (p.Ser26559Tyr)
c.79475C>A (p.Ser26492Tyr)
c.79100C>A (p.Ser26367Tyr)
c.106295C>A (p.Ser35432Tyr)
c.101372C>A (p.Ser33791Tyr)
n.446+6684G>T
n.220-5412G>T
c.105392C>A (p.Ser35131Tyr)
c.79286C>A (p.Ser26429Tyr)
c.79145C>A (p.Ser26382Tyr)
c.105188C>A (p.Ser35063Tyr)
c.100586C>A (p.Ser33529Tyr)
c.100583C>A (p.Ser33528Tyr)
c.97625C>A (p.Ser32542Tyr)
c.79241C>A (p.Ser26414Tyr)
c.100736C>A (p.Ser33579Tyr)
c.100733C>A (p.Ser33578Tyr)
c.100166C>A (p.Ser33389Tyr)
c.97508C>A (p.Ser32503Tyr)
c.97427C>A (p.Ser32476Tyr)
c.79190C>A (p.Ser26397Tyr)
c.69044C>A (p.Ser23015Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched