Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530119_178530242del | CA2753330714 | TTN,TTN-AS1 | c.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 | |
2 | g.178530198_178530214dup | CA2701298840 | TTN,TTN-AS1 | c.98670+41_98670+57dup (n.98670+41_98670+57dup) c.79755+41_79755+57dup (n.79755+41_79755+57dup) c.79554+41_79554+57dup (n.79554+41_79554+57dup) c.79179+41_79179+57dup (n.79179+41_79179+57dup) c.106374+41_106374+57dup (n.106374+41_106374+57dup) c.101451+41_101451+57dup (n.101451+41_101451+57dup) n.446+6562_446+6578dup n.220-5534_220-5518dup c.105471+41_105471+57dup (n.105471+41_105471+57dup) c.79365+41_79365+57dup (n.79365+41_79365+57dup) c.79224+41_79224+57dup (n.79224+41_79224+57dup) c.105267+41_105267+57dup (n.105267+41_105267+57dup) c.100665+41_100665+57dup (n.100665+41_100665+57dup) c.100662+41_100662+57dup (n.100662+41_100662+57dup) c.97704+41_97704+57dup (n.97704+41_97704+57dup) c.79320+41_79320+57dup (n.79320+41_79320+57dup) c.100815+41_100815+57dup (n.100815+41_100815+57dup) c.100812+41_100812+57dup (n.100812+41_100812+57dup) c.100245+41_100245+57dup (n.100245+41_100245+57dup) c.97587+41_97587+57dup (n.97587+41_97587+57dup) c.97506+41_97506+57dup (n.97506+41_97506+57dup) c.79269+41_79269+57dup (n.79269+41_79269+57dup) c.69123+41_69123+57dup (n.69123+41_69123+57dup) | dbSNP |
2 | g.178530198_178530214del | CA2662125519 | TTN,TTN-AS1 | c.98670+41_98670+57del (n.98670+41_98670+57del) c.79755+41_79755+57del (n.79755+41_79755+57del) c.79554+41_79554+57del (n.79554+41_79554+57del) c.79179+41_79179+57del (n.79179+41_79179+57del) c.106374+41_106374+57del (n.106374+41_106374+57del) c.101451+41_101451+57del (n.101451+41_101451+57del) n.446+6562_446+6578del n.220-5534_220-5518del c.105471+41_105471+57del (n.105471+41_105471+57del) c.79365+41_79365+57del (n.79365+41_79365+57del) c.79224+41_79224+57del (n.79224+41_79224+57del) c.105267+41_105267+57del (n.105267+41_105267+57del) c.100665+41_100665+57del (n.100665+41_100665+57del) c.100662+41_100662+57del (n.100662+41_100662+57del) c.97704+41_97704+57del (n.97704+41_97704+57del) c.79320+41_79320+57del (n.79320+41_79320+57del) c.100815+41_100815+57del (n.100815+41_100815+57del) c.100812+41_100812+57del (n.100812+41_100812+57del) c.100245+41_100245+57del (n.100245+41_100245+57del) c.97587+41_97587+57del (n.97587+41_97587+57del) c.97506+41_97506+57del (n.97506+41_97506+57del) c.79269+41_79269+57del (n.79269+41_79269+57del) c.69123+41_69123+57del (n.69123+41_69123+57del) | gnomAD v4 |
2 | g.178530193T>C | CA2662125520 | TTN,TTN-AS1 | c.98670+48A>G (n.98670+48A>G) c.79755+48A>G (n.79755+48A>G) c.79554+48A>G (n.79554+48A>G) c.79179+48A>G (n.79179+48A>G) c.106374+48A>G (n.106374+48A>G) c.101451+48A>G (n.101451+48A>G) n.446+6557T>C n.220-5539T>C c.105471+48A>G (n.105471+48A>G) c.79365+48A>G (n.79365+48A>G) c.79224+48A>G (n.79224+48A>G) c.105267+48A>G (n.105267+48A>G) c.100665+48A>G (n.100665+48A>G) c.100662+48A>G (n.100662+48A>G) c.97704+48A>G (n.97704+48A>G) c.79320+48A>G (n.79320+48A>G) c.100815+48A>G (n.100815+48A>G) c.100812+48A>G (n.100812+48A>G) c.100245+48A>G (n.100245+48A>G) c.97587+48A>G (n.97587+48A>G) c.97506+48A>G (n.97506+48A>G) c.79269+48A>G (n.79269+48A>G) c.69123+48A>G (n.69123+48A>G) | gnomAD v4 |
2 | g.178530193T>G | CA538434970 | TTN,TTN-AS1 | c.98670+48A>C (n.98670+48A>C) c.79755+48A>C (n.79755+48A>C) c.79554+48A>C (n.79554+48A>C) c.79179+48A>C (n.79179+48A>C) c.106374+48A>C (n.106374+48A>C) c.101451+48A>C (n.101451+48A>C) n.446+6557T>G n.220-5539T>G c.105471+48A>C (n.105471+48A>C) c.79365+48A>C (n.79365+48A>C) c.79224+48A>C (n.79224+48A>C) c.105267+48A>C (n.105267+48A>C) c.100665+48A>C (n.100665+48A>C) c.100662+48A>C (n.100662+48A>C) c.97704+48A>C (n.97704+48A>C) c.79320+48A>C (n.79320+48A>C) c.100815+48A>C (n.100815+48A>C) c.100812+48A>C (n.100812+48A>C) c.100245+48A>C (n.100245+48A>C) c.97587+48A>C (n.97587+48A>C) c.97506+48A>C (n.97506+48A>C) c.79269+48A>C (n.79269+48A>C) c.69123+48A>C (n.69123+48A>C) | dbSNP gnomAD v2 |
2 | g.178530193T= | CA1310511601 | TTN,TTN-AS1 | c.98670+48A= (n.98670+48A=) c.79755+48A= (n.79755+48A=) c.79554+48A= (n.79554+48A=) c.79179+48A= (n.79179+48A=) c.106374+48A= (n.106374+48A=) c.101451+48A= (n.101451+48A=) n.446+6557T= n.220-5539T= c.105471+48A= (n.105471+48A=) c.79365+48A= (n.79365+48A=) c.79224+48A= (n.79224+48A=) c.105267+48A= (n.105267+48A=) c.100665+48A= (n.100665+48A=) c.100662+48A= (n.100662+48A=) c.97704+48A= (n.97704+48A=) c.79320+48A= (n.79320+48A=) c.100815+48A= (n.100815+48A=) c.100812+48A= (n.100812+48A=) c.100245+48A= (n.100245+48A=) c.97587+48A= (n.97587+48A=) c.97506+48A= (n.97506+48A=) c.79269+48A= (n.79269+48A=) c.69123+48A= (n.69123+48A=) | |
2 | g.178530195A= | CA1310511603 | TTN,TTN-AS1 | c.98670+46T= (n.98670+46T=) c.79755+46T= (n.79755+46T=) c.79554+46T= (n.79554+46T=) c.79179+46T= (n.79179+46T=) c.106374+46T= (n.106374+46T=) c.101451+46T= (n.101451+46T=) n.446+6559A= n.220-5537A= c.105471+46T= (n.105471+46T=) c.79365+46T= (n.79365+46T=) c.79224+46T= (n.79224+46T=) c.105267+46T= (n.105267+46T=) c.100665+46T= (n.100665+46T=) c.100662+46T= (n.100662+46T=) c.97704+46T= (n.97704+46T=) c.79320+46T= (n.79320+46T=) c.100815+46T= (n.100815+46T=) c.100812+46T= (n.100812+46T=) c.100245+46T= (n.100245+46T=) c.97587+46T= (n.97587+46T=) c.97506+46T= (n.97506+46T=) c.79269+46T= (n.79269+46T=) c.69123+46T= (n.69123+46T=) | |
2 | g.178530195A>C | CA1985120 | TTN,TTN-AS1 | c.98670+46T>G (n.98670+46T>G) c.79755+46T>G (n.79755+46T>G) c.79554+46T>G (n.79554+46T>G) c.79179+46T>G (n.79179+46T>G) c.106374+46T>G (n.106374+46T>G) c.101451+46T>G (n.101451+46T>G) n.446+6559A>C n.220-5537A>C c.105471+46T>G (n.105471+46T>G) c.79365+46T>G (n.79365+46T>G) c.79224+46T>G (n.79224+46T>G) c.105267+46T>G (n.105267+46T>G) c.100665+46T>G (n.100665+46T>G) c.100662+46T>G (n.100662+46T>G) c.97704+46T>G (n.97704+46T>G) c.79320+46T>G (n.79320+46T>G) c.100815+46T>G (n.100815+46T>G) c.100812+46T>G (n.100812+46T>G) c.100245+46T>G (n.100245+46T>G) c.97587+46T>G (n.97587+46T>G) c.97506+46T>G (n.97506+46T>G) c.79269+46T>G (n.79269+46T>G) c.69123+46T>G (n.69123+46T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530195A>G | CA60953124 | TTN,TTN-AS1 | c.98670+46T>C (n.98670+46T>C) c.79755+46T>C (n.79755+46T>C) c.79554+46T>C (n.79554+46T>C) c.79179+46T>C (n.79179+46T>C) c.106374+46T>C (n.106374+46T>C) c.101451+46T>C (n.101451+46T>C) n.446+6559A>G n.220-5537A>G c.105471+46T>C (n.105471+46T>C) c.79365+46T>C (n.79365+46T>C) c.79224+46T>C (n.79224+46T>C) c.105267+46T>C (n.105267+46T>C) c.100665+46T>C (n.100665+46T>C) c.100662+46T>C (n.100662+46T>C) c.97704+46T>C (n.97704+46T>C) c.79320+46T>C (n.79320+46T>C) c.100815+46T>C (n.100815+46T>C) c.100812+46T>C (n.100812+46T>C) c.100245+46T>C (n.100245+46T>C) c.97587+46T>C (n.97587+46T>C) c.97506+46T>C (n.97506+46T>C) c.79269+46T>C (n.79269+46T>C) c.69123+46T>C (n.69123+46T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530196A= | CA1310511606 | TTN,TTN-AS1 | c.98670+45T= (n.98670+45T=) c.79755+45T= (n.79755+45T=) c.79554+45T= (n.79554+45T=) c.79179+45T= (n.79179+45T=) c.106374+45T= (n.106374+45T=) c.101451+45T= (n.101451+45T=) n.446+6560A= n.220-5536A= c.105471+45T= (n.105471+45T=) c.79365+45T= (n.79365+45T=) c.79224+45T= (n.79224+45T=) c.105267+45T= (n.105267+45T=) c.100665+45T= (n.100665+45T=) c.100662+45T= (n.100662+45T=) c.97704+45T= (n.97704+45T=) c.79320+45T= (n.79320+45T=) c.100815+45T= (n.100815+45T=) c.100812+45T= (n.100812+45T=) c.100245+45T= (n.100245+45T=) c.97587+45T= (n.97587+45T=) c.97506+45T= (n.97506+45T=) c.79269+45T= (n.79269+45T=) c.69123+45T= (n.69123+45T=) | |
2 | g.178530196A>T | CA538434971 | TTN,TTN-AS1 | c.98670+45T>A (n.98670+45T>A) c.79755+45T>A (n.79755+45T>A) c.79554+45T>A (n.79554+45T>A) c.79179+45T>A (n.79179+45T>A) c.106374+45T>A (n.106374+45T>A) c.101451+45T>A (n.101451+45T>A) n.446+6560A>T n.220-5536A>T c.105471+45T>A (n.105471+45T>A) c.79365+45T>A (n.79365+45T>A) c.79224+45T>A (n.79224+45T>A) c.105267+45T>A (n.105267+45T>A) c.100665+45T>A (n.100665+45T>A) c.100662+45T>A (n.100662+45T>A) c.97704+45T>A (n.97704+45T>A) c.79320+45T>A (n.79320+45T>A) c.100815+45T>A (n.100815+45T>A) c.100812+45T>A (n.100812+45T>A) c.100245+45T>A (n.100245+45T>A) c.97587+45T>A (n.97587+45T>A) c.97506+45T>A (n.97506+45T>A) c.79269+45T>A (n.79269+45T>A) c.69123+45T>A (n.69123+45T>A) | dbSNP gnomAD v2 |
2 | g.178530198T= | CA1310511609 | TTN,TTN-AS1 | c.98670+43A= (n.98670+43A=) c.79755+43A= (n.79755+43A=) c.79554+43A= (n.79554+43A=) c.79179+43A= (n.79179+43A=) c.106374+43A= (n.106374+43A=) c.101451+43A= (n.101451+43A=) n.446+6562T= n.220-5534T= c.105471+43A= (n.105471+43A=) c.79365+43A= (n.79365+43A=) c.79224+43A= (n.79224+43A=) c.105267+43A= (n.105267+43A=) c.100665+43A= (n.100665+43A=) c.100662+43A= (n.100662+43A=) c.97704+43A= (n.97704+43A=) c.79320+43A= (n.79320+43A=) c.100815+43A= (n.100815+43A=) c.100812+43A= (n.100812+43A=) c.100245+43A= (n.100245+43A=) c.97587+43A= (n.97587+43A=) c.97506+43A= (n.97506+43A=) c.79269+43A= (n.79269+43A=) c.69123+43A= (n.69123+43A=) | |
2 | g.178530198_178530199insTAGGG | CA538434972 | TTN,TTN-AS1 | c.98670+42_98670+43insCCCTA (n.98670+42_98670+43insCCCTA) c.79755+42_79755+43insCCCTA (n.79755+42_79755+43insCCCTA) c.79554+42_79554+43insCCCTA (n.79554+42_79554+43insCCCTA) c.79179+42_79179+43insCCCTA (n.79179+42_79179+43insCCCTA) c.106374+42_106374+43insCCCTA (n.106374+42_106374+43insCCCTA) c.101451+42_101451+43insCCCTA (n.101451+42_101451+43insCCCTA) n.446+6562_446+6563insTAGGG n.220-5534_220-5533insTAGGG c.105471+42_105471+43insCCCTA (n.105471+42_105471+43insCCCTA) c.79365+42_79365+43insCCCTA (n.79365+42_79365+43insCCCTA) c.79224+42_79224+43insCCCTA (n.79224+42_79224+43insCCCTA) c.105267+42_105267+43insCCCTA (n.105267+42_105267+43insCCCTA) c.100665+42_100665+43insCCCTA (n.100665+42_100665+43insCCCTA) c.100662+42_100662+43insCCCTA (n.100662+42_100662+43insCCCTA) c.97704+42_97704+43insCCCTA (n.97704+42_97704+43insCCCTA) c.79320+42_79320+43insCCCTA (n.79320+42_79320+43insCCCTA) c.100815+42_100815+43insCCCTA (n.100815+42_100815+43insCCCTA) c.100812+42_100812+43insCCCTA (n.100812+42_100812+43insCCCTA) c.100245+42_100245+43insCCCTA (n.100245+42_100245+43insCCCTA) c.97587+42_97587+43insCCCTA (n.97587+42_97587+43insCCCTA) c.97506+42_97506+43insCCCTA (n.97506+42_97506+43insCCCTA) c.79269+42_79269+43insCCCTA (n.79269+42_79269+43insCCCTA) c.69123+42_69123+43insCCCTA (n.69123+42_69123+43insCCCTA) | dbSNP gnomAD v2 |
2 | g.178530203T>C | CA60953131 | TTN,TTN-AS1 | c.98670+38A>G (n.98670+38A>G) c.79755+38A>G (n.79755+38A>G) c.79554+38A>G (n.79554+38A>G) c.79179+38A>G (n.79179+38A>G) c.106374+38A>G (n.106374+38A>G) c.101451+38A>G (n.101451+38A>G) n.446+6567T>C n.220-5529T>C c.105471+38A>G (n.105471+38A>G) c.79365+38A>G (n.79365+38A>G) c.79224+38A>G (n.79224+38A>G) c.105267+38A>G (n.105267+38A>G) c.100665+38A>G (n.100665+38A>G) c.100662+38A>G (n.100662+38A>G) c.97704+38A>G (n.97704+38A>G) c.79320+38A>G (n.79320+38A>G) c.100815+38A>G (n.100815+38A>G) c.100812+38A>G (n.100812+38A>G) c.100245+38A>G (n.100245+38A>G) c.97587+38A>G (n.97587+38A>G) c.97506+38A>G (n.97506+38A>G) c.79269+38A>G (n.79269+38A>G) c.69123+38A>G (n.69123+38A>G) | dbSNP |
2 | g.178530203T= | CA1310511612 | TTN,TTN-AS1 | c.98670+38A= (n.98670+38A=) c.79755+38A= (n.79755+38A=) c.79554+38A= (n.79554+38A=) c.79179+38A= (n.79179+38A=) c.106374+38A= (n.106374+38A=) c.101451+38A= (n.101451+38A=) n.446+6567T= n.220-5529T= c.105471+38A= (n.105471+38A=) c.79365+38A= (n.79365+38A=) c.79224+38A= (n.79224+38A=) c.105267+38A= (n.105267+38A=) c.100665+38A= (n.100665+38A=) c.100662+38A= (n.100662+38A=) c.97704+38A= (n.97704+38A=) c.79320+38A= (n.79320+38A=) c.100815+38A= (n.100815+38A=) c.100812+38A= (n.100812+38A=) c.100245+38A= (n.100245+38A=) c.97587+38A= (n.97587+38A=) c.97506+38A= (n.97506+38A=) c.79269+38A= (n.79269+38A=) c.69123+38A= (n.69123+38A=) | |
2 | g.178530204A>C | CA2740344203 | TTN,TTN-AS1 | c.98670+37T>G (n.98670+37T>G) c.79755+37T>G (n.79755+37T>G) c.79554+37T>G (n.79554+37T>G) c.79179+37T>G (n.79179+37T>G) c.106374+37T>G (n.106374+37T>G) c.101451+37T>G (n.101451+37T>G) n.446+6568A>C n.220-5528A>C c.105471+37T>G (n.105471+37T>G) c.79365+37T>G (n.79365+37T>G) c.79224+37T>G (n.79224+37T>G) c.105267+37T>G (n.105267+37T>G) c.100665+37T>G (n.100665+37T>G) c.100662+37T>G (n.100662+37T>G) c.97704+37T>G (n.97704+37T>G) c.79320+37T>G (n.79320+37T>G) c.100815+37T>G (n.100815+37T>G) c.100812+37T>G (n.100812+37T>G) c.100245+37T>G (n.100245+37T>G) c.97587+37T>G (n.97587+37T>G) c.97506+37T>G (n.97506+37T>G) c.79269+37T>G (n.79269+37T>G) c.69123+37T>G (n.69123+37T>G) | |
2 | g.178530205G>C | CA60953137 | TTN,TTN-AS1 | c.98670+36C>G (n.98670+36C>G) c.79755+36C>G (n.79755+36C>G) c.79554+36C>G (n.79554+36C>G) c.79179+36C>G (n.79179+36C>G) c.106374+36C>G (n.106374+36C>G) c.101451+36C>G (n.101451+36C>G) n.446+6569G>C n.220-5527G>C c.105471+36C>G (n.105471+36C>G) c.79365+36C>G (n.79365+36C>G) c.79224+36C>G (n.79224+36C>G) c.105267+36C>G (n.105267+36C>G) c.100665+36C>G (n.100665+36C>G) c.100662+36C>G (n.100662+36C>G) c.97704+36C>G (n.97704+36C>G) c.79320+36C>G (n.79320+36C>G) c.100815+36C>G (n.100815+36C>G) c.100812+36C>G (n.100812+36C>G) c.100245+36C>G (n.100245+36C>G) c.97587+36C>G (n.97587+36C>G) c.97506+36C>G (n.97506+36C>G) c.79269+36C>G (n.79269+36C>G) c.69123+36C>G (n.69123+36C>G) | dbSNP |
2 | g.178530205G= | CA1310511616 | TTN,TTN-AS1 | c.98670+36C= (n.98670+36C=) c.79755+36C= (n.79755+36C=) c.79554+36C= (n.79554+36C=) c.79179+36C= (n.79179+36C=) c.106374+36C= (n.106374+36C=) c.101451+36C= (n.101451+36C=) n.446+6569G= n.220-5527G= c.105471+36C= (n.105471+36C=) c.79365+36C= (n.79365+36C=) c.79224+36C= (n.79224+36C=) c.105267+36C= (n.105267+36C=) c.100665+36C= (n.100665+36C=) c.100662+36C= (n.100662+36C=) c.97704+36C= (n.97704+36C=) c.79320+36C= (n.79320+36C=) c.100815+36C= (n.100815+36C=) c.100812+36C= (n.100812+36C=) c.100245+36C= (n.100245+36C=) c.97587+36C= (n.97587+36C=) c.97506+36C= (n.97506+36C=) c.79269+36C= (n.79269+36C=) c.69123+36C= (n.69123+36C=) | |
2 | g.178530205G>T | CA2577170309 | TTN,TTN-AS1 | c.98670+36C>A (n.98670+36C>A) c.79755+36C>A (n.79755+36C>A) c.79554+36C>A (n.79554+36C>A) c.79179+36C>A (n.79179+36C>A) c.106374+36C>A (n.106374+36C>A) c.101451+36C>A (n.101451+36C>A) n.446+6569G>T n.220-5527G>T c.105471+36C>A (n.105471+36C>A) c.79365+36C>A (n.79365+36C>A) c.79224+36C>A (n.79224+36C>A) c.105267+36C>A (n.105267+36C>A) c.100665+36C>A (n.100665+36C>A) c.100662+36C>A (n.100662+36C>A) c.97704+36C>A (n.97704+36C>A) c.79320+36C>A (n.79320+36C>A) c.100815+36C>A (n.100815+36C>A) c.100812+36C>A (n.100812+36C>A) c.100245+36C>A (n.100245+36C>A) c.97587+36C>A (n.97587+36C>A) c.97506+36C>A (n.97506+36C>A) c.79269+36C>A (n.79269+36C>A) c.69123+36C>A (n.69123+36C>A) | |
2 | g.178530208G= | CA1310511619 | TTN,TTN-AS1 | c.98670+33C= (n.98670+33C=) c.79755+33C= (n.79755+33C=) c.79554+33C= (n.79554+33C=) c.79179+33C= (n.79179+33C=) c.106374+33C= (n.106374+33C=) c.101451+33C= (n.101451+33C=) n.446+6572G= n.220-5524G= c.105471+33C= (n.105471+33C=) c.79365+33C= (n.79365+33C=) c.79224+33C= (n.79224+33C=) c.105267+33C= (n.105267+33C=) c.100665+33C= (n.100665+33C=) c.100662+33C= (n.100662+33C=) c.97704+33C= (n.97704+33C=) c.79320+33C= (n.79320+33C=) c.100815+33C= (n.100815+33C=) c.100812+33C= (n.100812+33C=) c.100245+33C= (n.100245+33C=) c.97587+33C= (n.97587+33C=) c.97506+33C= (n.97506+33C=) c.79269+33C= (n.79269+33C=) c.69123+33C= (n.69123+33C=) | |
2 | g.178530208G>T | CA761284432 | TTN,TTN-AS1 | c.98670+33C>A (n.98670+33C>A) c.79755+33C>A (n.79755+33C>A) c.79554+33C>A (n.79554+33C>A) c.79179+33C>A (n.79179+33C>A) c.106374+33C>A (n.106374+33C>A) c.101451+33C>A (n.101451+33C>A) n.446+6572G>T n.220-5524G>T c.105471+33C>A (n.105471+33C>A) c.79365+33C>A (n.79365+33C>A) c.79224+33C>A (n.79224+33C>A) c.105267+33C>A (n.105267+33C>A) c.100665+33C>A (n.100665+33C>A) c.100662+33C>A (n.100662+33C>A) c.97704+33C>A (n.97704+33C>A) c.79320+33C>A (n.79320+33C>A) c.100815+33C>A (n.100815+33C>A) c.100812+33C>A (n.100812+33C>A) c.100245+33C>A (n.100245+33C>A) c.97587+33C>A (n.97587+33C>A) c.97506+33C>A (n.97506+33C>A) c.79269+33C>A (n.79269+33C>A) c.69123+33C>A (n.69123+33C>A) | dbSNP |
2 | g.178530209A= | CA1310511621 | TTN,TTN-AS1 | c.98670+32T= (n.98670+32T=) c.79755+32T= (n.79755+32T=) c.79554+32T= (n.79554+32T=) c.79179+32T= (n.79179+32T=) c.106374+32T= (n.106374+32T=) c.101451+32T= (n.101451+32T=) n.446+6573A= n.220-5523A= c.105471+32T= (n.105471+32T=) c.79365+32T= (n.79365+32T=) c.79224+32T= (n.79224+32T=) c.105267+32T= (n.105267+32T=) c.100665+32T= (n.100665+32T=) c.100662+32T= (n.100662+32T=) c.97704+32T= (n.97704+32T=) c.79320+32T= (n.79320+32T=) c.100815+32T= (n.100815+32T=) c.100812+32T= (n.100812+32T=) c.100245+32T= (n.100245+32T=) c.97587+32T= (n.97587+32T=) c.97506+32T= (n.97506+32T=) c.79269+32T= (n.79269+32T=) c.69123+32T= (n.69123+32T=) | |
2 | g.178530209A>G | CA1310511620 | TTN,TTN-AS1 | c.98670+32T>C (n.98670+32T>C) c.79755+32T>C (n.79755+32T>C) c.79554+32T>C (n.79554+32T>C) c.79179+32T>C (n.79179+32T>C) c.106374+32T>C (n.106374+32T>C) c.101451+32T>C (n.101451+32T>C) n.446+6573A>G n.220-5523A>G c.105471+32T>C (n.105471+32T>C) c.79365+32T>C (n.79365+32T>C) c.79224+32T>C (n.79224+32T>C) c.105267+32T>C (n.105267+32T>C) c.100665+32T>C (n.100665+32T>C) c.100662+32T>C (n.100662+32T>C) c.97704+32T>C (n.97704+32T>C) c.79320+32T>C (n.79320+32T>C) c.100815+32T>C (n.100815+32T>C) c.100812+32T>C (n.100812+32T>C) c.100245+32T>C (n.100245+32T>C) c.97587+32T>C (n.97587+32T>C) c.97506+32T>C (n.97506+32T>C) c.79269+32T>C (n.79269+32T>C) c.69123+32T>C (n.69123+32T>C) | dbSNP |
2 | g.178530210_178530214delinsTAAAA | CA1310511624 | TTN,TTN-AS1 | c.98670+27_98670+31delinsTTTTA (n.98670+27_98670+31delinsTTTTA) c.79755+27_79755+31delinsTTTTA (n.79755+27_79755+31delinsTTTTA) c.79554+27_79554+31delinsTTTTA (n.79554+27_79554+31delinsTTTTA) c.79179+27_79179+31delinsTTTTA (n.79179+27_79179+31delinsTTTTA) c.106374+27_106374+31delinsTTTTA (n.106374+27_106374+31delinsTTTTA) c.101451+27_101451+31delinsTTTTA (n.101451+27_101451+31delinsTTTTA) n.446+6574_446+6578delinsTAAAA n.220-5522_220-5518delinsTAAAA c.105471+27_105471+31delinsTTTTA (n.105471+27_105471+31delinsTTTTA) c.79365+27_79365+31delinsTTTTA (n.79365+27_79365+31delinsTTTTA) c.79224+27_79224+31delinsTTTTA (n.79224+27_79224+31delinsTTTTA) c.105267+27_105267+31delinsTTTTA (n.105267+27_105267+31delinsTTTTA) c.100665+27_100665+31delinsTTTTA (n.100665+27_100665+31delinsTTTTA) c.100662+27_100662+31delinsTTTTA (n.100662+27_100662+31delinsTTTTA) c.97704+27_97704+31delinsTTTTA (n.97704+27_97704+31delinsTTTTA) c.79320+27_79320+31delinsTTTTA (n.79320+27_79320+31delinsTTTTA) c.100815+27_100815+31delinsTTTTA (n.100815+27_100815+31delinsTTTTA) c.100812+27_100812+31delinsTTTTA (n.100812+27_100812+31delinsTTTTA) c.100245+27_100245+31delinsTTTTA (n.100245+27_100245+31delinsTTTTA) c.97587+27_97587+31delinsTTTTA (n.97587+27_97587+31delinsTTTTA) c.97506+27_97506+31delinsTTTTA (n.97506+27_97506+31delinsTTTTA) c.79269+27_79269+31delinsTTTTA (n.79269+27_79269+31delinsTTTTA) c.69123+27_69123+31delinsTTTTA (n.69123+27_69123+31delinsTTTTA) | |
2 | g.178530210_178530215delinsTAAAAG | CA1310511623 | TTN,TTN-AS1 | c.98670+26_98670+31delinsCTTTTA (n.98670+26_98670+31delinsCTTTTA) c.79755+26_79755+31delinsCTTTTA (n.79755+26_79755+31delinsCTTTTA) c.79554+26_79554+31delinsCTTTTA (n.79554+26_79554+31delinsCTTTTA) c.79179+26_79179+31delinsCTTTTA (n.79179+26_79179+31delinsCTTTTA) c.106374+26_106374+31delinsCTTTTA (n.106374+26_106374+31delinsCTTTTA) c.101451+26_101451+31delinsCTTTTA (n.101451+26_101451+31delinsCTTTTA) n.446+6574_446+6579delinsTAAAAG n.220-5522_220-5517delinsTAAAAG c.105471+26_105471+31delinsCTTTTA (n.105471+26_105471+31delinsCTTTTA) c.79365+26_79365+31delinsCTTTTA (n.79365+26_79365+31delinsCTTTTA) c.79224+26_79224+31delinsCTTTTA (n.79224+26_79224+31delinsCTTTTA) c.105267+26_105267+31delinsCTTTTA (n.105267+26_105267+31delinsCTTTTA) c.100665+26_100665+31delinsCTTTTA (n.100665+26_100665+31delinsCTTTTA) c.100662+26_100662+31delinsCTTTTA (n.100662+26_100662+31delinsCTTTTA) c.97704+26_97704+31delinsCTTTTA (n.97704+26_97704+31delinsCTTTTA) c.79320+26_79320+31delinsCTTTTA (n.79320+26_79320+31delinsCTTTTA) c.100815+26_100815+31delinsCTTTTA (n.100815+26_100815+31delinsCTTTTA) c.100812+26_100812+31delinsCTTTTA (n.100812+26_100812+31delinsCTTTTA) c.100245+26_100245+31delinsCTTTTA (n.100245+26_100245+31delinsCTTTTA) c.97587+26_97587+31delinsCTTTTA (n.97587+26_97587+31delinsCTTTTA) c.97506+26_97506+31delinsCTTTTA (n.97506+26_97506+31delinsCTTTTA) c.79269+26_79269+31delinsCTTTTA (n.79269+26_79269+31delinsCTTTTA) c.69123+26_69123+31delinsCTTTTA (n.69123+26_69123+31delinsCTTTTA) | |
2 | g.178530211A>G | CA2662125530 | TTN,TTN-AS1 | c.98670+30T>C (n.98670+30T>C) c.79755+30T>C (n.79755+30T>C) c.79554+30T>C (n.79554+30T>C) c.79179+30T>C (n.79179+30T>C) c.106374+30T>C (n.106374+30T>C) c.101451+30T>C (n.101451+30T>C) n.446+6575A>G n.220-5521A>G c.105471+30T>C (n.105471+30T>C) c.79365+30T>C (n.79365+30T>C) c.79224+30T>C (n.79224+30T>C) c.105267+30T>C (n.105267+30T>C) c.100665+30T>C (n.100665+30T>C) c.100662+30T>C (n.100662+30T>C) c.97704+30T>C (n.97704+30T>C) c.79320+30T>C (n.79320+30T>C) c.100815+30T>C (n.100815+30T>C) c.100812+30T>C (n.100812+30T>C) c.100245+30T>C (n.100245+30T>C) c.97587+30T>C (n.97587+30T>C) c.97506+30T>C (n.97506+30T>C) c.79269+30T>C (n.79269+30T>C) c.69123+30T>C (n.69123+30T>C) | gnomAD v4 |
2 | g.178530211_178530214del | CA1985122 | TTN,TTN-AS1 | c.98670+27_98670+30del (n.98670+27_98670+30del) c.79755+27_79755+30del (n.79755+27_79755+30del) c.79554+27_79554+30del (n.79554+27_79554+30del) c.79179+27_79179+30del (n.79179+27_79179+30del) c.106374+27_106374+30del (n.106374+27_106374+30del) c.101451+27_101451+30del (n.101451+27_101451+30del) n.446+6575_446+6578del n.220-5521_220-5518del c.105471+27_105471+30del (n.105471+27_105471+30del) c.79365+27_79365+30del (n.79365+27_79365+30del) c.79224+27_79224+30del (n.79224+27_79224+30del) c.105267+27_105267+30del (n.105267+27_105267+30del) c.100665+27_100665+30del (n.100665+27_100665+30del) c.100662+27_100662+30del (n.100662+27_100662+30del) c.97704+27_97704+30del (n.97704+27_97704+30del) c.79320+27_79320+30del (n.79320+27_79320+30del) c.100815+27_100815+30del (n.100815+27_100815+30del) c.100812+27_100812+30del (n.100812+27_100812+30del) c.100245+27_100245+30del (n.100245+27_100245+30del) c.97587+27_97587+30del (n.97587+27_97587+30del) c.97506+27_97506+30del (n.97506+27_97506+30del) c.79269+27_79269+30del (n.79269+27_79269+30del) c.69123+27_69123+30del (n.69123+27_69123+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530214_178530218del | CA1985121 | TTN,TTN-AS1 | c.98670+26_98670+30del (n.98670+26_98670+30del) c.79755+26_79755+30del (n.79755+26_79755+30del) c.79554+26_79554+30del (n.79554+26_79554+30del) c.79179+26_79179+30del (n.79179+26_79179+30del) c.106374+26_106374+30del (n.106374+26_106374+30del) c.101451+26_101451+30del (n.101451+26_101451+30del) n.446+6578_446+6582del n.220-5518_220-5514del c.105471+26_105471+30del (n.105471+26_105471+30del) c.79365+26_79365+30del (n.79365+26_79365+30del) c.79224+26_79224+30del (n.79224+26_79224+30del) c.105267+26_105267+30del (n.105267+26_105267+30del) c.100665+26_100665+30del (n.100665+26_100665+30del) c.100662+26_100662+30del (n.100662+26_100662+30del) c.97704+26_97704+30del (n.97704+26_97704+30del) c.79320+26_79320+30del (n.79320+26_79320+30del) c.100815+26_100815+30del (n.100815+26_100815+30del) c.100812+26_100812+30del (n.100812+26_100812+30del) c.100245+26_100245+30del (n.100245+26_100245+30del) c.97587+26_97587+30del (n.97587+26_97587+30del) c.97506+26_97506+30del (n.97506+26_97506+30del) c.79269+26_79269+30del (n.79269+26_79269+30del) c.69123+26_69123+30del (n.69123+26_69123+30del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530212A>C | CA2662125534 | TTN,TTN-AS1 | c.98670+29T>G (n.98670+29T>G) c.79755+29T>G (n.79755+29T>G) c.79554+29T>G (n.79554+29T>G) c.79179+29T>G (n.79179+29T>G) c.106374+29T>G (n.106374+29T>G) c.101451+29T>G (n.101451+29T>G) n.446+6576A>C n.220-5520A>C c.105471+29T>G (n.105471+29T>G) c.79365+29T>G (n.79365+29T>G) c.79224+29T>G (n.79224+29T>G) c.105267+29T>G (n.105267+29T>G) c.100665+29T>G (n.100665+29T>G) c.100662+29T>G (n.100662+29T>G) c.97704+29T>G (n.97704+29T>G) c.79320+29T>G (n.79320+29T>G) c.100815+29T>G (n.100815+29T>G) c.100812+29T>G (n.100812+29T>G) c.100245+29T>G (n.100245+29T>G) c.97587+29T>G (n.97587+29T>G) c.97506+29T>G (n.97506+29T>G) c.79269+29T>G (n.79269+29T>G) c.69123+29T>G (n.69123+29T>G) | gnomAD v4 |
2 | g.178530214A= | CA1310511629 | TTN,TTN-AS1 | c.98670+27T= (n.98670+27T=) c.79755+27T= (n.79755+27T=) c.79554+27T= (n.79554+27T=) c.79179+27T= (n.79179+27T=) c.106374+27T= (n.106374+27T=) c.101451+27T= (n.101451+27T=) n.446+6578A= n.220-5518A= c.105471+27T= (n.105471+27T=) c.79365+27T= (n.79365+27T=) c.79224+27T= (n.79224+27T=) c.105267+27T= (n.105267+27T=) c.100665+27T= (n.100665+27T=) c.100662+27T= (n.100662+27T=) c.97704+27T= (n.97704+27T=) c.79320+27T= (n.79320+27T=) c.100815+27T= (n.100815+27T=) c.100812+27T= (n.100812+27T=) c.100245+27T= (n.100245+27T=) c.97587+27T= (n.97587+27T=) c.97506+27T= (n.97506+27T=) c.79269+27T= (n.79269+27T=) c.69123+27T= (n.69123+27T=) | |
2 | g.178530214A>T | CA538434973 | TTN,TTN-AS1 | c.98670+27T>A (n.98670+27T>A) c.79755+27T>A (n.79755+27T>A) c.79554+27T>A (n.79554+27T>A) c.79179+27T>A (n.79179+27T>A) c.106374+27T>A (n.106374+27T>A) c.101451+27T>A (n.101451+27T>A) n.446+6578A>T n.220-5518A>T c.105471+27T>A (n.105471+27T>A) c.79365+27T>A (n.79365+27T>A) c.79224+27T>A (n.79224+27T>A) c.105267+27T>A (n.105267+27T>A) c.100665+27T>A (n.100665+27T>A) c.100662+27T>A (n.100662+27T>A) c.97704+27T>A (n.97704+27T>A) c.79320+27T>A (n.79320+27T>A) c.100815+27T>A (n.100815+27T>A) c.100812+27T>A (n.100812+27T>A) c.100245+27T>A (n.100245+27T>A) c.97587+27T>A (n.97587+27T>A) c.97506+27T>A (n.97506+27T>A) c.79269+27T>A (n.79269+27T>A) c.69123+27T>A (n.69123+27T>A) | dbSNP gnomAD v2 |
2 | g.178530215del | CA2662125538 | TTN,TTN-AS1 | c.98670+26del (n.98670+26del) c.79755+26del (n.79755+26del) c.79554+26del (n.79554+26del) c.79179+26del (n.79179+26del) c.106374+26del (n.106374+26del) c.101451+26del (n.101451+26del) n.446+6579del n.220-5517del c.105471+26del (n.105471+26del) c.79365+26del (n.79365+26del) c.79224+26del (n.79224+26del) c.105267+26del (n.105267+26del) c.100665+26del (n.100665+26del) c.100662+26del (n.100662+26del) c.97704+26del (n.97704+26del) c.79320+26del (n.79320+26del) c.100815+26del (n.100815+26del) c.100812+26del (n.100812+26del) c.100245+26del (n.100245+26del) c.97587+26del (n.97587+26del) c.97506+26del (n.97506+26del) c.79269+26del (n.79269+26del) c.69123+26del (n.69123+26del) | gnomAD v4 |
2 | g.178530215G= | CA1310511631 | TTN,TTN-AS1 | c.98670+26C= (n.98670+26C=) c.79755+26C= (n.79755+26C=) c.79554+26C= (n.79554+26C=) c.79179+26C= (n.79179+26C=) c.106374+26C= (n.106374+26C=) c.101451+26C= (n.101451+26C=) n.446+6579G= n.220-5517G= c.105471+26C= (n.105471+26C=) c.79365+26C= (n.79365+26C=) c.79224+26C= (n.79224+26C=) c.105267+26C= (n.105267+26C=) c.100665+26C= (n.100665+26C=) c.100662+26C= (n.100662+26C=) c.97704+26C= (n.97704+26C=) c.79320+26C= (n.79320+26C=) c.100815+26C= (n.100815+26C=) c.100812+26C= (n.100812+26C=) c.100245+26C= (n.100245+26C=) c.97587+26C= (n.97587+26C=) c.97506+26C= (n.97506+26C=) c.79269+26C= (n.79269+26C=) c.69123+26C= (n.69123+26C=) | |
2 | g.178530215G>T | CA60953170 | TTN,TTN-AS1 | c.98670+26C>A (n.98670+26C>A) c.79755+26C>A (n.79755+26C>A) c.79554+26C>A (n.79554+26C>A) c.79179+26C>A (n.79179+26C>A) c.106374+26C>A (n.106374+26C>A) c.101451+26C>A (n.101451+26C>A) n.446+6579G>T n.220-5517G>T c.105471+26C>A (n.105471+26C>A) c.79365+26C>A (n.79365+26C>A) c.79224+26C>A (n.79224+26C>A) c.105267+26C>A (n.105267+26C>A) c.100665+26C>A (n.100665+26C>A) c.100662+26C>A (n.100662+26C>A) c.97704+26C>A (n.97704+26C>A) c.79320+26C>A (n.79320+26C>A) c.100815+26C>A (n.100815+26C>A) c.100812+26C>A (n.100812+26C>A) c.100245+26C>A (n.100245+26C>A) c.97587+26C>A (n.97587+26C>A) c.97506+26C>A (n.97506+26C>A) c.79269+26C>A (n.79269+26C>A) c.69123+26C>A (n.69123+26C>A) | dbSNP gnomAD v4 |
2 | g.178530218A>G | CA2577170310 | TTN,TTN-AS1 | c.98670+23T>C (n.98670+23T>C) c.79755+23T>C (n.79755+23T>C) c.79554+23T>C (n.79554+23T>C) c.79179+23T>C (n.79179+23T>C) c.106374+23T>C (n.106374+23T>C) c.101451+23T>C (n.101451+23T>C) n.446+6582A>G n.220-5514A>G c.105471+23T>C (n.105471+23T>C) c.79365+23T>C (n.79365+23T>C) c.79224+23T>C (n.79224+23T>C) c.105267+23T>C (n.105267+23T>C) c.100665+23T>C (n.100665+23T>C) c.100662+23T>C (n.100662+23T>C) c.97704+23T>C (n.97704+23T>C) c.79320+23T>C (n.79320+23T>C) c.100815+23T>C (n.100815+23T>C) c.100812+23T>C (n.100812+23T>C) c.100245+23T>C (n.100245+23T>C) c.97587+23T>C (n.97587+23T>C) c.97506+23T>C (n.97506+23T>C) c.79269+23T>C (n.79269+23T>C) c.69123+23T>C (n.69123+23T>C) | gnomAD v4 |
2 | g.178530219_178530222delinsGAGA | CA1310511633 | TTN,TTN-AS1 | c.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) | |
2 | g.178530220_178530222del | CA538434974 | TTN,TTN-AS1 | c.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 |
2 | g.178530221G>A | CA2662125540 | TTN,TTN-AS1 | c.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 |
2 | g.178530221G>C | CA2662125542 | TTN,TTN-AS1 | c.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 |
2 | g.178530223C>A | CA2662125544 | TTN,TTN-AS1 | c.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 |
2 | g.178530223C= | CA1310511636 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530223C>T | CA538434975 | TTN,TTN-AS1 | c.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 |
2 | g.178530227T>C | CA60953186 | TTN,TTN-AS1 | c.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 |
2 | g.178530227T= | CA1310511638 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530230G>A | CA2662125545 | TTN,TTN-AS1 | c.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 |
2 | g.178530232A>C | CA2662125546 | TTN,TTN-AS1 | c.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 |
2 | g.178530233C>G | CA2662125547 | TTN,TTN-AS1 | c.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 |
2 | g.178530236G>A | CA2563514932 | TTN,TTN-AS1 | c.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) | |
2 | g.178530236G>T | CA2586970731 | TTN,TTN-AS1 | c.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) | |
2 | g.178530237T>A | CA2662125548 | TTN,TTN-AS1 | c.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 |
2 | g.178530238T>C | CA60953193 | TTN,TTN-AS1 | c.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 |
2 | g.178530238T= | CA1310511640 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530239A>C | CA349405704 | TTN,TTN-AS1 | c.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) | |
2 | g.178530239A>G | CA349405698 | TTN,TTN-AS1 | c.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) | |
2 | g.178530239A>T | CA349405701 | TTN,TTN-AS1 | c.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 |
2 | g.178530239_178530240delinsAC | CA1310511643 | TTN,TTN-AS1 | c.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) | |
2 | g.178530240C>A | CA349405709 | TTN,TTN-AS1 | c.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 |
2 | g.178530240C>G | CA349405713 | TTN,TTN-AS1 | c.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) | |
2 | g.178530240C>T | CA349405717 | TTN,TTN-AS1 | c.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) | |
2 | g.178530241del | CA090791 | TTN,TTN-AS1 | c.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 |
2 | g.178530241C>A | CA349405722 | TTN,TTN-AS1 | c.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) | |
2 | g.178530241C>G | CA349405729 | TTN,TTN-AS1 | c.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) | |
2 | g.178530241C>T | CA430234991 | TTN,TTN-AS1 | c.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 |
2 | g.178530242T>A | CA349405731 | TTN,TTN-AS1 | c.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) | |
2 | g.178530242T>C | CA349405734 | TTN,TTN-AS1 | c.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 |
2 | g.178530242T>G | CA349405737 | TTN,TTN-AS1 | c.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 |
2 | g.178530242T= | CA1310511652 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530243T>A | CA349405747 | TTN,TTN-AS1 | c.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) | |
2 | g.178530243T>C | CA349405749 | TTN,TTN-AS1 | c.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 |
2 | g.178530243T>G | CA349405753 | TTN,TTN-AS1 | c.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) | |
2 | g.178530244T>A | CA430234993 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530244T>C | CA430234995 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530244T>G | CA430234996 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530245C>A | CA349405762 | TTN,TTN-AS1 | c.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 |
2 | g.178530245C= | CA1310511654 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530245C>G | CA349405764 | TTN,TTN-AS1 | c.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) | |
2 | g.178530245C>T | CA349405760 | TTN,TTN-AS1 | c.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) | |
2 | g.178530246C>A | CA349405765 | TTN,TTN-AS1 | c.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) | |
2 | g.178530246C>G | CA349405767 | TTN,TTN-AS1 | c.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) | |
2 | g.178530246C>T | CA349405774 | TTN,TTN-AS1 | c.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) | |
2 | g.178530247_178530249dup | CA1985123 | TTN,TTN-AS1 | c.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 |
2 | g.178530247A>C | CA349405781 | TTN,TTN-AS1 | c.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) | |
2 | g.178530247A>G | CA430235005 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530247A>T | CA349405784 | TTN,TTN-AS1 | c.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) | |
2 | g.178530248T>A | CA349405798 | TTN,TTN-AS1 | c.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 |
2 | g.178530248T>C | CA349405801 | TTN,TTN-AS1 | c.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) | |
2 | g.178530248T>G | CA349405806 | TTN,TTN-AS1 | c.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) | |
2 | g.178530248T= | CA1310511662 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530249C>A | CA349405809 | TTN,TTN-AS1 | c.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) | |
2 | g.178530249C>G | CA349405813 | TTN,TTN-AS1 | c.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) | |
2 | g.178530249C>T | CA349405818 | TTN,TTN-AS1 | c.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) | |
2 | g.178530250T>A | CA349405820 | TTN,TTN-AS1 | c.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) | |
2 | g.178530250T>C | CA430235008 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530250T>G | CA1985124 | TTN,TTN-AS1 | c.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 |
2 | g.178530250T= | CA1310511666 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530253del | CA430235009 | TTN,TTN-AS1 | c.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) | |
2 | g.178530251T>A | CA349405836 | TTN,TTN-AS1 | c.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 |
2 | g.178530251T>C | CA349405827 | TTN,TTN-AS1 | c.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) | |
2 | g.178530251T>G | CA349405833 | TTN,TTN-AS1 | c.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) | |
2 | g.178530251T= | CA1310511671 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530252T>A | CA349405839 | TTN,TTN-AS1 | c.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) | |
2 | g.178530252T>C | CA349405842 | TTN,TTN-AS1 | c.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) | |
2 | g.178530252T>G | CA349405845 | TTN,TTN-AS1 | c.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) | |
2 | g.178530253T>A | CA430235014 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530253T>C | CA430235015 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530253T>G | CA430235016 | TTN,TTN-AS1 | c.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 |
2 | g.178530253T= | CA1310511674 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530254G>A | CA349405848 | TTN,TTN-AS1 | c.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) | |
2 | g.178530254G>C | CA349405854 | TTN,TTN-AS1 | c.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) | |
2 | g.178530254G>T | CA349405858 | TTN,TTN-AS1 | c.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) | |
2 | g.178530255T>A | CA349405862 | TTN,TTN-AS1 | c.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) | |
2 | g.178530255T>C | CA349405863 | TTN,TTN-AS1 | c.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) | |
2 | g.178530255T>G | CA349405866 | TTN,TTN-AS1 | c.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 |
2 | g.178530255T= | CA1310511677 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530256C>A | CA349405868 | TTN,TTN-AS1 | c.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 |
2 | g.178530256C>G | CA349405870 | TTN,TTN-AS1 | c.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) | |
2 | g.178530256C>T | CA349405873 | TTN,TTN-AS1 | c.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 |
2 | g.178530257C>A | CA349405883 | TTN,TTN-AS1 | c.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) | |
2 | g.178530257C= | CA1310511680 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530257C>G | CA349405880 | TTN,TTN-AS1 | c.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) | |
2 | g.178530257C>T | CA60953232 | TTN,TTN-AS1 | c.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 |
2 | g.178530258A>C | CA349405888 | TTN,TTN-AS1 | c.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) | |
2 | g.178530258A>G | CA349405894 | TTN,TTN-AS1 | c.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 |
2 | g.178530258A>T | CA349405897 | TTN,TTN-AS1 | c.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 |
2 | g.178530259G>A | CA430235023 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530259G>C | CA349405900 | TTN,TTN-AS1 | c.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 |
2 | g.178530259G>T | CA430235024 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530260A= | CA1310511685 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530260A>C | CA349405903 | TTN,TTN-AS1 | c.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) | |
2 | g.178530260A>G | CA349405906 | TTN,TTN-AS1 | c.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 |
2 | g.178530260A>T | CA349405908 | TTN,TTN-AS1 | c.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) | |
2 | g.178530261T>A | CA349405915 | TTN,TTN-AS1 | c.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) | |
2 | g.178530261T>C | CA349405917 | TTN,TTN-AS1 | c.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) | |
2 | g.178530261T>G | CA349405919 | TTN,TTN-AS1 | c.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) | |
2 | g.178530262G>A | CA430235028 | TTN,TTN-AS1 | c.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 |
2 | g.178530262G>C | CA430235030 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530262G>T | CA430235029 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530263G>A | CA349405925 | TTN,TTN-AS1 | c.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 |
2 | g.178530263G>C | CA349405928 | TTN,TTN-AS1 | c.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) | |
2 | g.178530263G>T | CA349405934 | TTN,TTN-AS1 | c.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) | |
2 | g.178530264C>A | CA349405940 | TTN,TTN-AS1 | c.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) | |
2 | g.178530264C>G | CA349405943 | TTN,TTN-AS1 | c.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) | |
2 | g.178530264C>T | CA349405937 | TTN,TTN-AS1 | c.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) | |
2 | g.178530265A= | CA1310511687 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530265A>C | CA430235036 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530265A>G | CA1985125 | TTN,TTN-AS1 | c.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 |
2 | g.178530265A>T | CA430235038 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530266G>A | CA349405951 | TTN,TTN-AS1 | c.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 |
2 | g.178530266G>C | CA1985126 | TTN,TTN-AS1 | c.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 |
2 | g.178530266G= | CA1310511693 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530266G>T | CA349405955 | TTN,TTN-AS1 | c.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) | |
2 | g.178530267T>A | CA349405967 | TTN,TTN-AS1 | c.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) | |
2 | g.178530267T>C | CA349405965 | TTN,TTN-AS1 | c.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) | |
2 | g.178530267T>G | CA349405961 | TTN,TTN-AS1 | c.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) | |
2 | g.178530268T>A | CA430235042 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530268T>C | CA430235045 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530268T>G | CA430235044 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530269G>A | CA349405969 | TTN,TTN-AS1 | c.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 |
2 | g.178530269G>C | CA349405971 | TTN,TTN-AS1 | c.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) | |
2 | g.178530269G= | CA1310511695 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530269G>T | CA349405974 | TTN,TTN-AS1 | c.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 |
2 | g.178530270G>A | CA349405984 | TTN,TTN-AS1 | c.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) | |
2 | g.178530270G>C | CA349405985 | TTN,TTN-AS1 | c.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) | |
2 | g.178530270G>T | CA349405986 | TTN,TTN-AS1 | c.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) | |
2 | g.178530271C>A | CA430235047 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530271C>G | CA430235048 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530271C>T | CA430235049 | TTN,TTN-AS1 | c.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 |
2 | g.178530272C>A | CA349405987 | TTN,TTN-AS1 | c.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) | |
2 | g.178530272C= | CA1310511701 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530272C>G | CA60953241 | TTN,TTN-AS1 | c.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 |
2 | g.178530272C>T | CA302375 | TTN,TTN-AS1 | c.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 |
2 | g.178530273G>A | CA1985127 | TTN,TTN-AS1 | c.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 |
2 | g.178530273G>C | CA349405990 | TTN,TTN-AS1 | c.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) | |
2 | g.178530273G= | CA1310511709 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530273G>T | CA430235051 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530274G>A | CA430235053 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530274G>C | CA430235054 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530274G>T | CA430235055 | TTN,TTN-AS1 | c.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 |
2 | g.178530275G>A | CA349405993 | TTN,TTN-AS1 | c.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) | |
2 | g.178530275G>C | CA349405998 | TTN,TTN-AS1 | c.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 |
2 | g.178530275G>T | CA349405996 | TTN,TTN-AS1 | c.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 |
2 | g.178530276G>A | CA349406001 | TTN,TTN-AS1 | c.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 |
2 | g.178530276G>C | CA349406006 | TTN,TTN-AS1 | c.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) | |
2 | g.178530276G>T | CA349406003 | TTN,TTN-AS1 | c.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) | |
2 | g.178530277T>A | CA349406008 | TTN,TTN-AS1 | c.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) | |
2 | g.178530277T>C | CA430235059 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530277T>G | CA349406010 | TTN,TTN-AS1 | c.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) | |
2 | g.178530278T>A | CA349406013 | TTN,TTN-AS1 | c.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) | |
2 | g.178530278T>C | CA349406017 | TTN,TTN-AS1 | c.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) | |
2 | g.178530278T>G | CA349406015 | TTN,TTN-AS1 | c.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) | |
2 | g.178530279C>A | CA349406020 | TTN,TTN-AS1 | c.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) | |
2 | g.178530279C>G | CA349406023 | TTN,TTN-AS1 | c.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) | |
2 | g.178530279C>T | CA349406022 | TTN,TTN-AS1 | c.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) | |
2 | g.178530280T>A | CA430235062 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530280T>C | CA430235064 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530280T>G | CA430235065 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530281C>A | CA349406024 | TTN,TTN-AS1 | c.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) | |
2 | g.178530281C>G | CA349406027 | TTN,TTN-AS1 | c.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) | |
2 | g.178530281C>T | CA349406026 | TTN,TTN-AS1 | c.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 |
2 | g.178530282C>A | CA349406030 | TTN,TTN-AS1 | c.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) | |
2 | g.178530282C>G | CA349406034 | TTN,TTN-AS1 | c.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) | |
2 | g.178530282C>T | CA349406032 | TTN,TTN-AS1 | c.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) | |
2 | g.178530283A>C | CA430235067 | TTN,TTN-AS1 | c.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 |
2 | g.178530283A>G | CA430235068 | TTN,TTN-AS1 | c.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 |
2 | g.178530283A>T | CA430235069 | TTN,TTN-AS1 | c.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 |
2 | g.178530283_178530284dup | CA2586970733 | TTN,TTN-AS1 | c.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?) | |
2 | g.178530284G>A | CA349406037 | TTN,TTN-AS1 | c.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 |
2 | g.178530284G>C | CA349406040 | TTN,TTN-AS1 | c.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) | |
2 | g.178530284G= | CA1310511715 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530284G>T | CA349406042 | TTN,TTN-AS1 | c.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) | |
2 | g.178530285T>A | CA349406045 | TTN,TTN-AS1 | c.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 |
2 | g.178530285T>C | CA349406047 | TTN,TTN-AS1 | c.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 |
2 | g.178530285T>G | CA349406050 | TTN,TTN-AS1 | c.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 |
2 | g.178530285T= | CA1310511717 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530286A>C | CA430235072 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530286A>G | CA430235073 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530286A>T | CA430235074 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530287G>A | CA349406053 | TTN,TTN-AS1 | c.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) | |
2 | g.178530287G>C | CA349406055 | TTN,TTN-AS1 | c.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 |
2 | g.178530287G>T | CA349406057 | TTN,TTN-AS1 | c.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) | |
2 | g.178530288C>A | CA349406067 | TTN,TTN-AS1 | c.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) | |
2 | g.178530288C= | CA1310511725 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530288C>G | CA349406063 | TTN,TTN-AS1 | c.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) | |
2 | g.178530288C>T | CA349406061 | TTN,TTN-AS1 | c.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 |
2 | g.178530289C>A | CA349406070 | TTN,TTN-AS1 | c.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) | |
2 | g.178530289C= | CA1310511727 | TTN,TTN-AS1 | c.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=) | |
2 | g.178530289C>G | CA349406071 | TTN,TTN-AS1 | c.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) | |
2 | g.178530289C>T | CA430235079 | TTN,TTN-AS1 | c.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 |
2 | g.178530290T>A | CA349406073 | TTN,TTN-AS1 | c.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) | |
2 | g.178530290T>C | CA349406075 | TTN,TTN-AS1 | c.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 |
2 | g.178530290T>G | CA349406078 | TTN,TTN-AS1 | c.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) | |
2 | g.178530290T= | CA1310511731 | TTN,TTN-AS1 | c.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=) |