Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178630317G>A | CA430113541 | TTN | c.36501C>T (p.Asn12167=) c.17586C>T (p.Asn5862=) c.17385C>T (p.Asn5795=) c.17010C>T (p.Asn5670=) c.44205C>T (p.Asn14735=) c.39282C>T (p.Asn13094=) c.43302C>T (p.Asn14434=) c.17196C>T (p.Asn5732=) c.17055C>T (p.Asn5685=) c.43098C>T (p.Asn14366=) c.38496C>T (p.Asn12832=) c.38493C>T (p.Asn12831=) c.35535C>T (p.Asn11845=) c.17151C>T (p.Asn5717=) c.38646C>T (p.Asn12882=) c.38643C>T (p.Asn12881=) c.38076C>T (p.Asn12692=) c.35418C>T (p.Asn11806=) c.35337C>T (p.Asn11779=) c.17100C>T (p.Asn5700=) c.6954C>T (p.Asn2318=) | |
2 | g.178630317G>C | CA1995722 | TTN | c.36501C>G (p.Asn12167Lys) c.17586C>G (p.Asn5862Lys) c.17385C>G (p.Asn5795Lys) c.17010C>G (p.Asn5670Lys) c.44205C>G (p.Asn14735Lys) c.39282C>G (p.Asn13094Lys) c.43302C>G (p.Asn14434Lys) c.17196C>G (p.Asn5732Lys) c.17055C>G (p.Asn5685Lys) c.43098C>G (p.Asn14366Lys) c.38496C>G (p.Asn12832Lys) c.38493C>G (p.Asn12831Lys) c.35535C>G (p.Asn11845Lys) c.17151C>G (p.Asn5717Lys) c.38646C>G (p.Asn12882Lys) c.38643C>G (p.Asn12881Lys) c.38076C>G (p.Asn12692Lys) c.35418C>G (p.Asn11806Lys) c.35337C>G (p.Asn11779Lys) c.17100C>G (p.Asn5700Lys) c.6954C>G (p.Asn2318Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178630317G= | CA1310555926 | TTN | c.36501C= (p.Asn12167=) c.17586C= (p.Asn5862=) c.17385C= (p.Asn5795=) c.17010C= (p.Asn5670=) c.44205C= (p.Asn14735=) c.39282C= (p.Asn13094=) c.43302C= (p.Asn14434=) c.17196C= (p.Asn5732=) c.17055C= (p.Asn5685=) c.43098C= (p.Asn14366=) c.38496C= (p.Asn12832=) c.38493C= (p.Asn12831=) c.35535C= (p.Asn11845=) c.17151C= (p.Asn5717=) c.38646C= (p.Asn12882=) c.38643C= (p.Asn12881=) c.38076C= (p.Asn12692=) c.35418C= (p.Asn11806=) c.35337C= (p.Asn11779=) c.17100C= (p.Asn5700=) c.6954C= (p.Asn2318=) | |
2 | g.178630317G>T | CA349645560 | TTN | c.36501C>A (p.Asn12167Lys) c.17586C>A (p.Asn5862Lys) c.17385C>A (p.Asn5795Lys) c.17010C>A (p.Asn5670Lys) c.44205C>A (p.Asn14735Lys) c.39282C>A (p.Asn13094Lys) c.43302C>A (p.Asn14434Lys) c.17196C>A (p.Asn5732Lys) c.17055C>A (p.Asn5685Lys) c.43098C>A (p.Asn14366Lys) c.38496C>A (p.Asn12832Lys) c.38493C>A (p.Asn12831Lys) c.35535C>A (p.Asn11845Lys) c.17151C>A (p.Asn5717Lys) c.38646C>A (p.Asn12882Lys) c.38643C>A (p.Asn12881Lys) c.38076C>A (p.Asn12692Lys) c.35418C>A (p.Asn11806Lys) c.35337C>A (p.Asn11779Lys) c.17100C>A (p.Asn5700Lys) c.6954C>A (p.Asn2318Lys) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178630318T>A | CA349645565 | TTN | c.36500A>T (p.Asn12167Ile) c.17585A>T (p.Asn5862Ile) c.17384A>T (p.Asn5795Ile) c.17009A>T (p.Asn5670Ile) c.44204A>T (p.Asn14735Ile) c.39281A>T (p.Asn13094Ile) c.43301A>T (p.Asn14434Ile) c.17195A>T (p.Asn5732Ile) c.17054A>T (p.Asn5685Ile) c.43097A>T (p.Asn14366Ile) c.38495A>T (p.Asn12832Ile) c.38492A>T (p.Asn12831Ile) c.35534A>T (p.Asn11845Ile) c.17150A>T (p.Asn5717Ile) c.38645A>T (p.Asn12882Ile) c.38642A>T (p.Asn12881Ile) c.38075A>T (p.Asn12692Ile) c.35417A>T (p.Asn11806Ile) c.35336A>T (p.Asn11779Ile) c.17099A>T (p.Asn5700Ile) c.6953A>T (p.Asn2318Ile) | |
2 | g.178630318T>C | CA309823 | TTN | c.36500A>G (p.Asn12167Ser) c.17585A>G (p.Asn5862Ser) c.17384A>G (p.Asn5795Ser) c.17009A>G (p.Asn5670Ser) c.44204A>G (p.Asn14735Ser) c.39281A>G (p.Asn13094Ser) c.43301A>G (p.Asn14434Ser) c.17195A>G (p.Asn5732Ser) c.17054A>G (p.Asn5685Ser) c.43097A>G (p.Asn14366Ser) c.38495A>G (p.Asn12832Ser) c.38492A>G (p.Asn12831Ser) c.35534A>G (p.Asn11845Ser) c.17150A>G (p.Asn5717Ser) c.38645A>G (p.Asn12882Ser) c.38642A>G (p.Asn12881Ser) c.38075A>G (p.Asn12692Ser) c.35417A>G (p.Asn11806Ser) c.35336A>G (p.Asn11779Ser) c.17099A>G (p.Asn5700Ser) c.6953A>G (p.Asn2318Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178630318T>G | CA349645576 | TTN | c.36500A>C (p.Asn12167Thr) c.17585A>C (p.Asn5862Thr) c.17384A>C (p.Asn5795Thr) c.17009A>C (p.Asn5670Thr) c.44204A>C (p.Asn14735Thr) c.39281A>C (p.Asn13094Thr) c.43301A>C (p.Asn14434Thr) c.17195A>C (p.Asn5732Thr) c.17054A>C (p.Asn5685Thr) c.43097A>C (p.Asn14366Thr) c.38495A>C (p.Asn12832Thr) c.38492A>C (p.Asn12831Thr) c.35534A>C (p.Asn11845Thr) c.17150A>C (p.Asn5717Thr) c.38645A>C (p.Asn12882Thr) c.38642A>C (p.Asn12881Thr) c.38075A>C (p.Asn12692Thr) c.35417A>C (p.Asn11806Thr) c.35336A>C (p.Asn11779Thr) c.17099A>C (p.Asn5700Thr) c.6953A>C (p.Asn2318Thr) | |
2 | g.178630318T= | CA1310555927 | TTN | c.36500A= (p.Asn12167=) c.17585A= (p.Asn5862=) c.17384A= (p.Asn5795=) c.17009A= (p.Asn5670=) c.44204A= (p.Asn14735=) c.39281A= (p.Asn13094=) c.43301A= (p.Asn14434=) c.17195A= (p.Asn5732=) c.17054A= (p.Asn5685=) c.43097A= (p.Asn14366=) c.38495A= (p.Asn12832=) c.38492A= (p.Asn12831=) c.35534A= (p.Asn11845=) c.17150A= (p.Asn5717=) c.38645A= (p.Asn12882=) c.38642A= (p.Asn12881=) c.38075A= (p.Asn12692=) c.35417A= (p.Asn11806=) c.35336A= (p.Asn11779=) c.17099A= (p.Asn5700=) c.6953A= (p.Asn2318=) | |
2 | g.178630319T>A | CA349645578 | TTN | c.36499A>T (p.Asn12167Tyr) c.17584A>T (p.Asn5862Tyr) c.17383A>T (p.Asn5795Tyr) c.17008A>T (p.Asn5670Tyr) c.44203A>T (p.Asn14735Tyr) c.39280A>T (p.Asn13094Tyr) c.43300A>T (p.Asn14434Tyr) c.17194A>T (p.Asn5732Tyr) c.17053A>T (p.Asn5685Tyr) c.43096A>T (p.Asn14366Tyr) c.38494A>T (p.Asn12832Tyr) c.38491A>T (p.Asn12831Tyr) c.35533A>T (p.Asn11845Tyr) c.17149A>T (p.Asn5717Tyr) c.38644A>T (p.Asn12882Tyr) c.38641A>T (p.Asn12881Tyr) c.38074A>T (p.Asn12692Tyr) c.35416A>T (p.Asn11806Tyr) c.35335A>T (p.Asn11779Tyr) c.17098A>T (p.Asn5700Tyr) c.6952A>T (p.Asn2318Tyr) | |
2 | g.178630319T>C | CA349645579 | TTN | c.36499A>G (p.Asn12167Asp) c.17584A>G (p.Asn5862Asp) c.17383A>G (p.Asn5795Asp) c.17008A>G (p.Asn5670Asp) c.44203A>G (p.Asn14735Asp) c.39280A>G (p.Asn13094Asp) c.43300A>G (p.Asn14434Asp) c.17194A>G (p.Asn5732Asp) c.17053A>G (p.Asn5685Asp) c.43096A>G (p.Asn14366Asp) c.38494A>G (p.Asn12832Asp) c.38491A>G (p.Asn12831Asp) c.35533A>G (p.Asn11845Asp) c.17149A>G (p.Asn5717Asp) c.38644A>G (p.Asn12882Asp) c.38641A>G (p.Asn12881Asp) c.38074A>G (p.Asn12692Asp) c.35416A>G (p.Asn11806Asp) c.35335A>G (p.Asn11779Asp) c.17098A>G (p.Asn5700Asp) c.6952A>G (p.Asn2318Asp) | gnomAD v4 |
2 | g.178630319T>G | CA349645580 | TTN | c.36499A>C (p.Asn12167His) c.17584A>C (p.Asn5862His) c.17383A>C (p.Asn5795His) c.17008A>C (p.Asn5670His) c.44203A>C (p.Asn14735His) c.39280A>C (p.Asn13094His) c.43300A>C (p.Asn14434His) c.17194A>C (p.Asn5732His) c.17053A>C (p.Asn5685His) c.43096A>C (p.Asn14366His) c.38494A>C (p.Asn12832His) c.38491A>C (p.Asn12831His) c.35533A>C (p.Asn11845His) c.17149A>C (p.Asn5717His) c.38644A>C (p.Asn12882His) c.38641A>C (p.Asn12881His) c.38074A>C (p.Asn12692His) c.35416A>C (p.Asn11806His) c.35335A>C (p.Asn11779His) c.17098A>C (p.Asn5700His) c.6952A>C (p.Asn2318His) | |
2 | g.178630320G>A | CA430113548 | TTN | c.36498C>T (p.His12166=) c.17583C>T (p.His5861=) c.17382C>T (p.His5794=) c.17007C>T (p.His5669=) c.44202C>T (p.His14734=) c.39279C>T (p.His13093=) c.43299C>T (p.His14433=) c.17193C>T (p.His5731=) c.17052C>T (p.His5684=) c.43095C>T (p.His14365=) c.38493C>T (p.His12831=) c.38490C>T (p.His12830=) c.35532C>T (p.His11844=) c.17148C>T (p.His5716=) c.38643C>T (p.His12881=) c.38640C>T (p.His12880=) c.38073C>T (p.His12691=) c.35415C>T (p.His11805=) c.35334C>T (p.His11778=) c.17097C>T (p.His5699=) c.6951C>T (p.His2317=) | dbSNP gnomAD v4 |
2 | g.178630320G>C | CA349645584 | TTN | c.36498C>G (p.His12166Gln) c.17583C>G (p.His5861Gln) c.17382C>G (p.His5794Gln) c.17007C>G (p.His5669Gln) c.44202C>G (p.His14734Gln) c.39279C>G (p.His13093Gln) c.43299C>G (p.His14433Gln) c.17193C>G (p.His5731Gln) c.17052C>G (p.His5684Gln) c.43095C>G (p.His14365Gln) c.38493C>G (p.His12831Gln) c.38490C>G (p.His12830Gln) c.35532C>G (p.His11844Gln) c.17148C>G (p.His5716Gln) c.38643C>G (p.His12881Gln) c.38640C>G (p.His12880Gln) c.38073C>G (p.His12691Gln) c.35415C>G (p.His11805Gln) c.35334C>G (p.His11778Gln) c.17097C>G (p.His5699Gln) c.6951C>G (p.His2317Gln) | |
2 | g.178630320G= | CA1310555928 | TTN | c.36498C= (p.His12166=) c.17583C= (p.His5861=) c.17382C= (p.His5794=) c.17007C= (p.His5669=) c.44202C= (p.His14734=) c.39279C= (p.His13093=) c.43299C= (p.His14433=) c.17193C= (p.His5731=) c.17052C= (p.His5684=) c.43095C= (p.His14365=) c.38493C= (p.His12831=) c.38490C= (p.His12830=) c.35532C= (p.His11844=) c.17148C= (p.His5716=) c.38643C= (p.His12881=) c.38640C= (p.His12880=) c.38073C= (p.His12691=) c.35415C= (p.His11805=) c.35334C= (p.His11778=) c.17097C= (p.His5699=) c.6951C= (p.His2317=) | |
2 | g.178630320G>T | CA349645585 | TTN | c.36498C>A (p.His12166Gln) c.17583C>A (p.His5861Gln) c.17382C>A (p.His5794Gln) c.17007C>A (p.His5669Gln) c.44202C>A (p.His14734Gln) c.39279C>A (p.His13093Gln) c.43299C>A (p.His14433Gln) c.17193C>A (p.His5731Gln) c.17052C>A (p.His5684Gln) c.43095C>A (p.His14365Gln) c.38493C>A (p.His12831Gln) c.38490C>A (p.His12830Gln) c.35532C>A (p.His11844Gln) c.17148C>A (p.His5716Gln) c.38643C>A (p.His12881Gln) c.38640C>A (p.His12880Gln) c.38073C>A (p.His12691Gln) c.35415C>A (p.His11805Gln) c.35334C>A (p.His11778Gln) c.17097C>A (p.His5699Gln) c.6951C>A (p.His2317Gln) | |
2 | g.178630321T>A | CA349645588 | TTN | c.36497A>T (p.His12166Leu) c.17582A>T (p.His5861Leu) c.17381A>T (p.His5794Leu) c.17006A>T (p.His5669Leu) c.44201A>T (p.His14734Leu) c.39278A>T (p.His13093Leu) c.43298A>T (p.His14433Leu) c.17192A>T (p.His5731Leu) c.17051A>T (p.His5684Leu) c.43094A>T (p.His14365Leu) c.38492A>T (p.His12831Leu) c.38489A>T (p.His12830Leu) c.35531A>T (p.His11844Leu) c.17147A>T (p.His5716Leu) c.38642A>T (p.His12881Leu) c.38639A>T (p.His12880Leu) c.38072A>T (p.His12691Leu) c.35414A>T (p.His11805Leu) c.35333A>T (p.His11778Leu) c.17096A>T (p.His5699Leu) c.6950A>T (p.His2317Leu) | |
2 | g.178630321T>C | CA349645590 | TTN | c.36497A>G (p.His12166Arg) c.17582A>G (p.His5861Arg) c.17381A>G (p.His5794Arg) c.17006A>G (p.His5669Arg) c.44201A>G (p.His14734Arg) c.39278A>G (p.His13093Arg) c.43298A>G (p.His14433Arg) c.17192A>G (p.His5731Arg) c.17051A>G (p.His5684Arg) c.43094A>G (p.His14365Arg) c.38492A>G (p.His12831Arg) c.38489A>G (p.His12830Arg) c.35531A>G (p.His11844Arg) c.17147A>G (p.His5716Arg) c.38642A>G (p.His12881Arg) c.38639A>G (p.His12880Arg) c.38072A>G (p.His12691Arg) c.35414A>G (p.His11805Arg) c.35333A>G (p.His11778Arg) c.17096A>G (p.His5699Arg) c.6950A>G (p.His2317Arg) | |
2 | g.178630321T>G | CA349645592 | TTN | c.36497A>C (p.His12166Pro) c.17582A>C (p.His5861Pro) c.17381A>C (p.His5794Pro) c.17006A>C (p.His5669Pro) c.44201A>C (p.His14734Pro) c.39278A>C (p.His13093Pro) c.43298A>C (p.His14433Pro) c.17192A>C (p.His5731Pro) c.17051A>C (p.His5684Pro) c.43094A>C (p.His14365Pro) c.38492A>C (p.His12831Pro) c.38489A>C (p.His12830Pro) c.35531A>C (p.His11844Pro) c.17147A>C (p.His5716Pro) c.38642A>C (p.His12881Pro) c.38639A>C (p.His12880Pro) c.38072A>C (p.His12691Pro) c.35414A>C (p.His11805Pro) c.35333A>C (p.His11778Pro) c.17096A>C (p.His5699Pro) c.6950A>C (p.His2317Pro) | |
2 | g.178630322G>A | CA349645595 | TTN | c.36496C>T (p.His12166Tyr) c.17581C>T (p.His5861Tyr) c.17380C>T (p.His5794Tyr) c.17005C>T (p.His5669Tyr) c.44200C>T (p.His14734Tyr) c.39277C>T (p.His13093Tyr) c.43297C>T (p.His14433Tyr) c.17191C>T (p.His5731Tyr) c.17050C>T (p.His5684Tyr) c.43093C>T (p.His14365Tyr) c.38491C>T (p.His12831Tyr) c.38488C>T (p.His12830Tyr) c.35530C>T (p.His11844Tyr) c.17146C>T (p.His5716Tyr) c.38641C>T (p.His12881Tyr) c.38638C>T (p.His12880Tyr) c.38071C>T (p.His12691Tyr) c.35413C>T (p.His11805Tyr) c.35332C>T (p.His11778Tyr) c.17095C>T (p.His5699Tyr) c.6949C>T (p.His2317Tyr) | |
2 | g.178630322G>C | CA349645596 | TTN | c.36496C>G (p.His12166Asp) c.17581C>G (p.His5861Asp) c.17380C>G (p.His5794Asp) c.17005C>G (p.His5669Asp) c.44200C>G (p.His14734Asp) c.39277C>G (p.His13093Asp) c.43297C>G (p.His14433Asp) c.17191C>G (p.His5731Asp) c.17050C>G (p.His5684Asp) c.43093C>G (p.His14365Asp) c.38491C>G (p.His12831Asp) c.38488C>G (p.His12830Asp) c.35530C>G (p.His11844Asp) c.17146C>G (p.His5716Asp) c.38641C>G (p.His12881Asp) c.38638C>G (p.His12880Asp) c.38071C>G (p.His12691Asp) c.35413C>G (p.His11805Asp) c.35332C>G (p.His11778Asp) c.17095C>G (p.His5699Asp) c.6949C>G (p.His2317Asp) | |
2 | g.178630322G>T | CA349645599 | TTN | c.36496C>A (p.His12166Asn) c.17581C>A (p.His5861Asn) c.17380C>A (p.His5794Asn) c.17005C>A (p.His5669Asn) c.44200C>A (p.His14734Asn) c.39277C>A (p.His13093Asn) c.43297C>A (p.His14433Asn) c.17191C>A (p.His5731Asn) c.17050C>A (p.His5684Asn) c.43093C>A (p.His14365Asn) c.38491C>A (p.His12831Asn) c.38488C>A (p.His12830Asn) c.35530C>A (p.His11844Asn) c.17146C>A (p.His5716Asn) c.38641C>A (p.His12881Asn) c.38638C>A (p.His12880Asn) c.38071C>A (p.His12691Asn) c.35413C>A (p.His11805Asn) c.35332C>A (p.His11778Asn) c.17095C>A (p.His5699Asn) c.6949C>A (p.His2317Asn) | |
2 | g.178630323C>A | CA349645603 | TTN | c.36495G>T (p.Leu12165Phe) c.17580G>T (p.Leu5860Phe) c.17379G>T (p.Leu5793Phe) c.17004G>T (p.Leu5668Phe) c.44199G>T (p.Leu14733Phe) c.39276G>T (p.Leu13092Phe) c.43296G>T (p.Leu14432Phe) c.17190G>T (p.Leu5730Phe) c.17049G>T (p.Leu5683Phe) c.43092G>T (p.Leu14364Phe) c.38490G>T (p.Leu12830Phe) c.38487G>T (p.Leu12829Phe) c.35529G>T (p.Leu11843Phe) c.17145G>T (p.Leu5715Phe) c.38640G>T (p.Leu12880Phe) c.38637G>T (p.Leu12879Phe) c.38070G>T (p.Leu12690Phe) c.35412G>T (p.Leu11804Phe) c.35331G>T (p.Leu11777Phe) c.17094G>T (p.Leu5698Phe) c.6948G>T (p.Leu2316Phe) | |
2 | g.178630323C>G | CA349645604 | TTN | c.36495G>C (p.Leu12165Phe) c.17580G>C (p.Leu5860Phe) c.17379G>C (p.Leu5793Phe) c.17004G>C (p.Leu5668Phe) c.44199G>C (p.Leu14733Phe) c.39276G>C (p.Leu13092Phe) c.43296G>C (p.Leu14432Phe) c.17190G>C (p.Leu5730Phe) c.17049G>C (p.Leu5683Phe) c.43092G>C (p.Leu14364Phe) c.38490G>C (p.Leu12830Phe) c.38487G>C (p.Leu12829Phe) c.35529G>C (p.Leu11843Phe) c.17145G>C (p.Leu5715Phe) c.38640G>C (p.Leu12880Phe) c.38637G>C (p.Leu12879Phe) c.38070G>C (p.Leu12690Phe) c.35412G>C (p.Leu11804Phe) c.35331G>C (p.Leu11777Phe) c.17094G>C (p.Leu5698Phe) c.6948G>C (p.Leu2316Phe) | |
2 | g.178630323C>T | CA430113558 | TTN | c.36495G>A (p.Leu12165=) c.17580G>A (p.Leu5860=) c.17379G>A (p.Leu5793=) c.17004G>A (p.Leu5668=) c.44199G>A (p.Leu14733=) c.39276G>A (p.Leu13092=) c.43296G>A (p.Leu14432=) c.17190G>A (p.Leu5730=) c.17049G>A (p.Leu5683=) c.43092G>A (p.Leu14364=) c.38490G>A (p.Leu12830=) c.38487G>A (p.Leu12829=) c.35529G>A (p.Leu11843=) c.17145G>A (p.Leu5715=) c.38640G>A (p.Leu12880=) c.38637G>A (p.Leu12879=) c.38070G>A (p.Leu12690=) c.35412G>A (p.Leu11804=) c.35331G>A (p.Leu11777=) c.17094G>A (p.Leu5698=) c.6948G>A (p.Leu2316=) | |
2 | g.178630324A>C | CA349645605 | TTN | c.36494T>G (p.Leu12165Trp) c.17579T>G (p.Leu5860Trp) c.17378T>G (p.Leu5793Trp) c.17003T>G (p.Leu5668Trp) c.44198T>G (p.Leu14733Trp) c.39275T>G (p.Leu13092Trp) c.43295T>G (p.Leu14432Trp) c.17189T>G (p.Leu5730Trp) c.17048T>G (p.Leu5683Trp) c.43091T>G (p.Leu14364Trp) c.38489T>G (p.Leu12830Trp) c.38486T>G (p.Leu12829Trp) c.35528T>G (p.Leu11843Trp) c.17144T>G (p.Leu5715Trp) c.38639T>G (p.Leu12880Trp) c.38636T>G (p.Leu12879Trp) c.38069T>G (p.Leu12690Trp) c.35411T>G (p.Leu11804Trp) c.35330T>G (p.Leu11777Trp) c.17093T>G (p.Leu5698Trp) c.6947T>G (p.Leu2316Trp) | |
2 | g.178630324A>G | CA349645611 | TTN | c.36494T>C (p.Leu12165Ser) c.17579T>C (p.Leu5860Ser) c.17378T>C (p.Leu5793Ser) c.17003T>C (p.Leu5668Ser) c.44198T>C (p.Leu14733Ser) c.39275T>C (p.Leu13092Ser) c.43295T>C (p.Leu14432Ser) c.17189T>C (p.Leu5730Ser) c.17048T>C (p.Leu5683Ser) c.43091T>C (p.Leu14364Ser) c.38489T>C (p.Leu12830Ser) c.38486T>C (p.Leu12829Ser) c.35528T>C (p.Leu11843Ser) c.17144T>C (p.Leu5715Ser) c.38639T>C (p.Leu12880Ser) c.38636T>C (p.Leu12879Ser) c.38069T>C (p.Leu12690Ser) c.35411T>C (p.Leu11804Ser) c.35330T>C (p.Leu11777Ser) c.17093T>C (p.Leu5698Ser) c.6947T>C (p.Leu2316Ser) | gnomAD v4 |
2 | g.178630324A>T | CA349645608 | TTN | c.36494T>A (p.Leu12165Ter) c.17579T>A (p.Leu5860Ter) c.17378T>A (p.Leu5793Ter) c.17003T>A (p.Leu5668Ter) c.44198T>A (p.Leu14733Ter) c.39275T>A (p.Leu13092Ter) c.43295T>A (p.Leu14432Ter) c.17189T>A (p.Leu5730Ter) c.17048T>A (p.Leu5683Ter) c.43091T>A (p.Leu14364Ter) c.38489T>A (p.Leu12830Ter) c.38486T>A (p.Leu12829Ter) c.35528T>A (p.Leu11843Ter) c.17144T>A (p.Leu5715Ter) c.38639T>A (p.Leu12880Ter) c.38636T>A (p.Leu12879Ter) c.38069T>A (p.Leu12690Ter) c.35411T>A (p.Leu11804Ter) c.35330T>A (p.Leu11777Ter) c.17093T>A (p.Leu5698Ter) c.6947T>A (p.Leu2316Ter) | |
2 | g.178630325A= | CA1310555929 | TTN | c.36493T= (p.Leu12165=) c.17578T= (p.Leu5860=) c.17377T= (p.Leu5793=) c.17002T= (p.Leu5668=) c.44197T= (p.Leu14733=) c.39274T= (p.Leu13092=) c.43294T= (p.Leu14432=) c.17188T= (p.Leu5730=) c.17047T= (p.Leu5683=) c.43090T= (p.Leu14364=) c.38488T= (p.Leu12830=) c.38485T= (p.Leu12829=) c.35527T= (p.Leu11843=) c.17143T= (p.Leu5715=) c.38638T= (p.Leu12880=) c.38635T= (p.Leu12879=) c.38068T= (p.Leu12690=) c.35410T= (p.Leu11804=) c.35329T= (p.Leu11777=) c.17092T= (p.Leu5698=) c.6946T= (p.Leu2316=) | |
2 | g.178630325A>C | CA349645614 | TTN | c.36493T>G (p.Leu12165Val) c.17578T>G (p.Leu5860Val) c.17377T>G (p.Leu5793Val) c.17002T>G (p.Leu5668Val) c.44197T>G (p.Leu14733Val) c.39274T>G (p.Leu13092Val) c.43294T>G (p.Leu14432Val) c.17188T>G (p.Leu5730Val) c.17047T>G (p.Leu5683Val) c.43090T>G (p.Leu14364Val) c.38488T>G (p.Leu12830Val) c.38485T>G (p.Leu12829Val) c.35527T>G (p.Leu11843Val) c.17143T>G (p.Leu5715Val) c.38638T>G (p.Leu12880Val) c.38635T>G (p.Leu12879Val) c.38068T>G (p.Leu12690Val) c.35410T>G (p.Leu11804Val) c.35329T>G (p.Leu11777Val) c.17092T>G (p.Leu5698Val) c.6946T>G (p.Leu2316Val) | |
2 | g.178630325A>G | CA430113560 | TTN | c.36493T>C (p.Leu12165=) c.17578T>C (p.Leu5860=) c.17377T>C (p.Leu5793=) c.17002T>C (p.Leu5668=) c.44197T>C (p.Leu14733=) c.39274T>C (p.Leu13092=) c.43294T>C (p.Leu14432=) c.17188T>C (p.Leu5730=) c.17047T>C (p.Leu5683=) c.43090T>C (p.Leu14364=) c.38488T>C (p.Leu12830=) c.38485T>C (p.Leu12829=) c.35527T>C (p.Leu11843=) c.17143T>C (p.Leu5715=) c.38638T>C (p.Leu12880=) c.38635T>C (p.Leu12879=) c.38068T>C (p.Leu12690=) c.35410T>C (p.Leu11804=) c.35329T>C (p.Leu11777=) c.17092T>C (p.Leu5698=) c.6946T>C (p.Leu2316=) | ClinVar dbSNP |
2 | g.178630325A>T | CA349645616 | TTN | c.36493T>A (p.Leu12165Met) c.17578T>A (p.Leu5860Met) c.17377T>A (p.Leu5793Met) c.17002T>A (p.Leu5668Met) c.44197T>A (p.Leu14733Met) c.39274T>A (p.Leu13092Met) c.43294T>A (p.Leu14432Met) c.17188T>A (p.Leu5730Met) c.17047T>A (p.Leu5683Met) c.43090T>A (p.Leu14364Met) c.38488T>A (p.Leu12830Met) c.38485T>A (p.Leu12829Met) c.35527T>A (p.Leu11843Met) c.17143T>A (p.Leu5715Met) c.38638T>A (p.Leu12880Met) c.38635T>A (p.Leu12879Met) c.38068T>A (p.Leu12690Met) c.35410T>A (p.Leu11804Met) c.35329T>A (p.Leu11777Met) c.17092T>A (p.Leu5698Met) c.6946T>A (p.Leu2316Met) | |
2 | g.178630326A>C | CA430113562 | TTN | c.36492T>G (p.Val12164=) c.17577T>G (p.Val5859=) c.17376T>G (p.Val5792=) c.17001T>G (p.Val5667=) c.44196T>G (p.Val14732=) c.39273T>G (p.Val13091=) c.43293T>G (p.Val14431=) c.17187T>G (p.Val5729=) c.17046T>G (p.Val5682=) c.43089T>G (p.Val14363=) c.38487T>G (p.Val12829=) c.38484T>G (p.Val12828=) c.35526T>G (p.Val11842=) c.17142T>G (p.Val5714=) c.38637T>G (p.Val12879=) c.38634T>G (p.Val12878=) c.38067T>G (p.Val12689=) c.35409T>G (p.Val11803=) c.35328T>G (p.Val11776=) c.17091T>G (p.Val5697=) c.6945T>G (p.Val2315=) | |
2 | g.178630326A>G | CA430113564 | TTN | c.36492T>C (p.Val12164=) c.17577T>C (p.Val5859=) c.17376T>C (p.Val5792=) c.17001T>C (p.Val5667=) c.44196T>C (p.Val14732=) c.39273T>C (p.Val13091=) c.43293T>C (p.Val14431=) c.17187T>C (p.Val5729=) c.17046T>C (p.Val5682=) c.43089T>C (p.Val14363=) c.38487T>C (p.Val12829=) c.38484T>C (p.Val12828=) c.35526T>C (p.Val11842=) c.17142T>C (p.Val5714=) c.38637T>C (p.Val12879=) c.38634T>C (p.Val12878=) c.38067T>C (p.Val12689=) c.35409T>C (p.Val11803=) c.35328T>C (p.Val11776=) c.17091T>C (p.Val5697=) c.6945T>C (p.Val2315=) | |
2 | g.178630326A>T | CA430113563 | TTN | c.36492T>A (p.Val12164=) c.17577T>A (p.Val5859=) c.17376T>A (p.Val5792=) c.17001T>A (p.Val5667=) c.44196T>A (p.Val14732=) c.39273T>A (p.Val13091=) c.43293T>A (p.Val14431=) c.17187T>A (p.Val5729=) c.17046T>A (p.Val5682=) c.43089T>A (p.Val14363=) c.38487T>A (p.Val12829=) c.38484T>A (p.Val12828=) c.35526T>A (p.Val11842=) c.17142T>A (p.Val5714=) c.38637T>A (p.Val12879=) c.38634T>A (p.Val12878=) c.38067T>A (p.Val12689=) c.35409T>A (p.Val11803=) c.35328T>A (p.Val11776=) c.17091T>A (p.Val5697=) c.6945T>A (p.Val2315=) | |
2 | g.178630327A>C | CA349645619 | TTN | c.36491T>G (p.Val12164Gly) c.17576T>G (p.Val5859Gly) c.17375T>G (p.Val5792Gly) c.17000T>G (p.Val5667Gly) c.44195T>G (p.Val14732Gly) c.39272T>G (p.Val13091Gly) c.43292T>G (p.Val14431Gly) c.17186T>G (p.Val5729Gly) c.17045T>G (p.Val5682Gly) c.43088T>G (p.Val14363Gly) c.38486T>G (p.Val12829Gly) c.38483T>G (p.Val12828Gly) c.35525T>G (p.Val11842Gly) c.17141T>G (p.Val5714Gly) c.38636T>G (p.Val12879Gly) c.38633T>G (p.Val12878Gly) c.38066T>G (p.Val12689Gly) c.35408T>G (p.Val11803Gly) c.35327T>G (p.Val11776Gly) c.17090T>G (p.Val5697Gly) c.6944T>G (p.Val2315Gly) | |
2 | g.178630327A>G | CA349645622 | TTN | c.36491T>C (p.Val12164Ala) c.17576T>C (p.Val5859Ala) c.17375T>C (p.Val5792Ala) c.17000T>C (p.Val5667Ala) c.44195T>C (p.Val14732Ala) c.39272T>C (p.Val13091Ala) c.43292T>C (p.Val14431Ala) c.17186T>C (p.Val5729Ala) c.17045T>C (p.Val5682Ala) c.43088T>C (p.Val14363Ala) c.38486T>C (p.Val12829Ala) c.38483T>C (p.Val12828Ala) c.35525T>C (p.Val11842Ala) c.17141T>C (p.Val5714Ala) c.38636T>C (p.Val12879Ala) c.38633T>C (p.Val12878Ala) c.38066T>C (p.Val12689Ala) c.35408T>C (p.Val11803Ala) c.35327T>C (p.Val11776Ala) c.17090T>C (p.Val5697Ala) c.6944T>C (p.Val2315Ala) | |
2 | g.178630327A>T | CA349645623 | TTN | c.36491T>A (p.Val12164Asp) c.17576T>A (p.Val5859Asp) c.17375T>A (p.Val5792Asp) c.17000T>A (p.Val5667Asp) c.44195T>A (p.Val14732Asp) c.39272T>A (p.Val13091Asp) c.43292T>A (p.Val14431Asp) c.17186T>A (p.Val5729Asp) c.17045T>A (p.Val5682Asp) c.43088T>A (p.Val14363Asp) c.38486T>A (p.Val12829Asp) c.38483T>A (p.Val12828Asp) c.35525T>A (p.Val11842Asp) c.17141T>A (p.Val5714Asp) c.38636T>A (p.Val12879Asp) c.38633T>A (p.Val12878Asp) c.38066T>A (p.Val12689Asp) c.35408T>A (p.Val11803Asp) c.35327T>A (p.Val11776Asp) c.17090T>A (p.Val5697Asp) c.6944T>A (p.Val2315Asp) | |
2 | g.178630328C>A | CA349645625 | TTN | c.36490G>T (p.Val12164Phe) c.17575G>T (p.Val5859Phe) c.17374G>T (p.Val5792Phe) c.16999G>T (p.Val5667Phe) c.44194G>T (p.Val14732Phe) c.39271G>T (p.Val13091Phe) c.43291G>T (p.Val14431Phe) c.17185G>T (p.Val5729Phe) c.17044G>T (p.Val5682Phe) c.43087G>T (p.Val14363Phe) c.38485G>T (p.Val12829Phe) c.38482G>T (p.Val12828Phe) c.35524G>T (p.Val11842Phe) c.17140G>T (p.Val5714Phe) c.38635G>T (p.Val12879Phe) c.38632G>T (p.Val12878Phe) c.38065G>T (p.Val12689Phe) c.35407G>T (p.Val11803Phe) c.35326G>T (p.Val11776Phe) c.17089G>T (p.Val5697Phe) c.6943G>T (p.Val2315Phe) | |
2 | g.178630328C>G | CA349645628 | TTN | c.36490G>C (p.Val12164Leu) c.17575G>C (p.Val5859Leu) c.17374G>C (p.Val5792Leu) c.16999G>C (p.Val5667Leu) c.44194G>C (p.Val14732Leu) c.39271G>C (p.Val13091Leu) c.43291G>C (p.Val14431Leu) c.17185G>C (p.Val5729Leu) c.17044G>C (p.Val5682Leu) c.43087G>C (p.Val14363Leu) c.38485G>C (p.Val12829Leu) c.38482G>C (p.Val12828Leu) c.35524G>C (p.Val11842Leu) c.17140G>C (p.Val5714Leu) c.38635G>C (p.Val12879Leu) c.38632G>C (p.Val12878Leu) c.38065G>C (p.Val12689Leu) c.35407G>C (p.Val11803Leu) c.35326G>C (p.Val11776Leu) c.17089G>C (p.Val5697Leu) c.6943G>C (p.Val2315Leu) | |
2 | g.178630328C>T | CA349645631 | TTN | c.36490G>A (p.Val12164Ile) c.17575G>A (p.Val5859Ile) c.17374G>A (p.Val5792Ile) c.16999G>A (p.Val5667Ile) c.44194G>A (p.Val14732Ile) c.39271G>A (p.Val13091Ile) c.43291G>A (p.Val14431Ile) c.17185G>A (p.Val5729Ile) c.17044G>A (p.Val5682Ile) c.43087G>A (p.Val14363Ile) c.38485G>A (p.Val12829Ile) c.38482G>A (p.Val12828Ile) c.35524G>A (p.Val11842Ile) c.17140G>A (p.Val5714Ile) c.38635G>A (p.Val12879Ile) c.38632G>A (p.Val12878Ile) c.38065G>A (p.Val12689Ile) c.35407G>A (p.Val11803Ile) c.35326G>A (p.Val11776Ile) c.17089G>A (p.Val5697Ile) c.6943G>A (p.Val2315Ile) | |
2 | g.178630329A= | CA1310555930 | TTN | c.36489T= (p.Leu12163=) c.17574T= (p.Leu5858=) c.17373T= (p.Leu5791=) c.16998T= (p.Leu5666=) c.44193T= (p.Leu14731=) c.39270T= (p.Leu13090=) c.43290T= (p.Leu14430=) c.17184T= (p.Leu5728=) c.17043T= (p.Leu5681=) c.43086T= (p.Leu14362=) c.38484T= (p.Leu12828=) c.38481T= (p.Leu12827=) c.35523T= (p.Leu11841=) c.17139T= (p.Leu5713=) c.38634T= (p.Leu12878=) c.38631T= (p.Leu12877=) c.38064T= (p.Leu12688=) c.35406T= (p.Leu11802=) c.35325T= (p.Leu11775=) c.17088T= (p.Leu5696=) c.6942T= (p.Leu2314=) | |
2 | g.178630329A>C | CA430113570 | TTN | c.36489T>G (p.Leu12163=) c.17574T>G (p.Leu5858=) c.17373T>G (p.Leu5791=) c.16998T>G (p.Leu5666=) c.44193T>G (p.Leu14731=) c.39270T>G (p.Leu13090=) c.43290T>G (p.Leu14430=) c.17184T>G (p.Leu5728=) c.17043T>G (p.Leu5681=) c.43086T>G (p.Leu14362=) c.38484T>G (p.Leu12828=) c.38481T>G (p.Leu12827=) c.35523T>G (p.Leu11841=) c.17139T>G (p.Leu5713=) c.38634T>G (p.Leu12878=) c.38631T>G (p.Leu12877=) c.38064T>G (p.Leu12688=) c.35406T>G (p.Leu11802=) c.35325T>G (p.Leu11775=) c.17088T>G (p.Leu5696=) c.6942T>G (p.Leu2314=) | ClinVar dbSNP gnomAD v4 |
2 | g.178630329A>G | CA430113571 | TTN | c.36489T>C (p.Leu12163=) c.17574T>C (p.Leu5858=) c.17373T>C (p.Leu5791=) c.16998T>C (p.Leu5666=) c.44193T>C (p.Leu14731=) c.39270T>C (p.Leu13090=) c.43290T>C (p.Leu14430=) c.17184T>C (p.Leu5728=) c.17043T>C (p.Leu5681=) c.43086T>C (p.Leu14362=) c.38484T>C (p.Leu12828=) c.38481T>C (p.Leu12827=) c.35523T>C (p.Leu11841=) c.17139T>C (p.Leu5713=) c.38634T>C (p.Leu12878=) c.38631T>C (p.Leu12877=) c.38064T>C (p.Leu12688=) c.35406T>C (p.Leu11802=) c.35325T>C (p.Leu11775=) c.17088T>C (p.Leu5696=) c.6942T>C (p.Leu2314=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178630329A>T | CA430113573 | TTN | c.36489T>A (p.Leu12163=) c.17574T>A (p.Leu5858=) c.17373T>A (p.Leu5791=) c.16998T>A (p.Leu5666=) c.44193T>A (p.Leu14731=) c.39270T>A (p.Leu13090=) c.43290T>A (p.Leu14430=) c.17184T>A (p.Leu5728=) c.17043T>A (p.Leu5681=) c.43086T>A (p.Leu14362=) c.38484T>A (p.Leu12828=) c.38481T>A (p.Leu12827=) c.35523T>A (p.Leu11841=) c.17139T>A (p.Leu5713=) c.38634T>A (p.Leu12878=) c.38631T>A (p.Leu12877=) c.38064T>A (p.Leu12688=) c.35406T>A (p.Leu11802=) c.35325T>A (p.Leu11775=) c.17088T>A (p.Leu5696=) c.6942T>A (p.Leu2314=) | |
2 | g.178630330A>C | CA349645632 | TTN | c.36488T>G (p.Leu12163Arg) c.17573T>G (p.Leu5858Arg) c.17372T>G (p.Leu5791Arg) c.16997T>G (p.Leu5666Arg) c.44192T>G (p.Leu14731Arg) c.39269T>G (p.Leu13090Arg) c.43289T>G (p.Leu14430Arg) c.17183T>G (p.Leu5728Arg) c.17042T>G (p.Leu5681Arg) c.43085T>G (p.Leu14362Arg) c.38483T>G (p.Leu12828Arg) c.38480T>G (p.Leu12827Arg) c.35522T>G (p.Leu11841Arg) c.17138T>G (p.Leu5713Arg) c.38633T>G (p.Leu12878Arg) c.38630T>G (p.Leu12877Arg) c.38063T>G (p.Leu12688Arg) c.35405T>G (p.Leu11802Arg) c.35324T>G (p.Leu11775Arg) c.17087T>G (p.Leu5696Arg) c.6941T>G (p.Leu2314Arg) | |
2 | g.178630330A>G | CA349645634 | TTN | c.36488T>C (p.Leu12163Pro) c.17573T>C (p.Leu5858Pro) c.17372T>C (p.Leu5791Pro) c.16997T>C (p.Leu5666Pro) c.44192T>C (p.Leu14731Pro) c.39269T>C (p.Leu13090Pro) c.43289T>C (p.Leu14430Pro) c.17183T>C (p.Leu5728Pro) c.17042T>C (p.Leu5681Pro) c.43085T>C (p.Leu14362Pro) c.38483T>C (p.Leu12828Pro) c.38480T>C (p.Leu12827Pro) c.35522T>C (p.Leu11841Pro) c.17138T>C (p.Leu5713Pro) c.38633T>C (p.Leu12878Pro) c.38630T>C (p.Leu12877Pro) c.38063T>C (p.Leu12688Pro) c.35405T>C (p.Leu11802Pro) c.35324T>C (p.Leu11775Pro) c.17087T>C (p.Leu5696Pro) c.6941T>C (p.Leu2314Pro) | |
2 | g.178630330A>T | CA349645633 | TTN | c.36488T>A (p.Leu12163His) c.17573T>A (p.Leu5858His) c.17372T>A (p.Leu5791His) c.16997T>A (p.Leu5666His) c.44192T>A (p.Leu14731His) c.39269T>A (p.Leu13090His) c.43289T>A (p.Leu14430His) c.17183T>A (p.Leu5728His) c.17042T>A (p.Leu5681His) c.43085T>A (p.Leu14362His) c.38483T>A (p.Leu12828His) c.38480T>A (p.Leu12827His) c.35522T>A (p.Leu11841His) c.17138T>A (p.Leu5713His) c.38633T>A (p.Leu12878His) c.38630T>A (p.Leu12877His) c.38063T>A (p.Leu12688His) c.35405T>A (p.Leu11802His) c.35324T>A (p.Leu11775His) c.17087T>A (p.Leu5696His) c.6941T>A (p.Leu2314His) | |
2 | g.178630331G>A | CA1995723 | TTN | c.36487C>T (p.Leu12163Phe) c.17572C>T (p.Leu5858Phe) c.17371C>T (p.Leu5791Phe) c.16996C>T (p.Leu5666Phe) c.44191C>T (p.Leu14731Phe) c.39268C>T (p.Leu13090Phe) c.43288C>T (p.Leu14430Phe) c.17182C>T (p.Leu5728Phe) c.17041C>T (p.Leu5681Phe) c.43084C>T (p.Leu14362Phe) c.38482C>T (p.Leu12828Phe) c.38479C>T (p.Leu12827Phe) c.35521C>T (p.Leu11841Phe) c.17137C>T (p.Leu5713Phe) c.38632C>T (p.Leu12878Phe) c.38629C>T (p.Leu12877Phe) c.38062C>T (p.Leu12688Phe) c.35404C>T (p.Leu11802Phe) c.35323C>T (p.Leu11775Phe) c.17086C>T (p.Leu5696Phe) c.6940C>T (p.Leu2314Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178630331G>C | CA349645635 | TTN | c.36487C>G (p.Leu12163Val) c.17572C>G (p.Leu5858Val) c.17371C>G (p.Leu5791Val) c.16996C>G (p.Leu5666Val) c.44191C>G (p.Leu14731Val) c.39268C>G (p.Leu13090Val) c.43288C>G (p.Leu14430Val) c.17182C>G (p.Leu5728Val) c.17041C>G (p.Leu5681Val) c.43084C>G (p.Leu14362Val) c.38482C>G (p.Leu12828Val) c.38479C>G (p.Leu12827Val) c.35521C>G (p.Leu11841Val) c.17137C>G (p.Leu5713Val) c.38632C>G (p.Leu12878Val) c.38629C>G (p.Leu12877Val) c.38062C>G (p.Leu12688Val) c.35404C>G (p.Leu11802Val) c.35323C>G (p.Leu11775Val) c.17086C>G (p.Leu5696Val) c.6940C>G (p.Leu2314Val) | |
2 | g.178630331G= | CA1310555931 | TTN | c.36487C= (p.Leu12163=) c.17572C= (p.Leu5858=) c.17371C= (p.Leu5791=) c.16996C= (p.Leu5666=) c.44191C= (p.Leu14731=) c.39268C= (p.Leu13090=) c.43288C= (p.Leu14430=) c.17182C= (p.Leu5728=) c.17041C= (p.Leu5681=) c.43084C= (p.Leu14362=) c.38482C= (p.Leu12828=) c.38479C= (p.Leu12827=) c.35521C= (p.Leu11841=) c.17137C= (p.Leu5713=) c.38632C= (p.Leu12878=) c.38629C= (p.Leu12877=) c.38062C= (p.Leu12688=) c.35404C= (p.Leu11802=) c.35323C= (p.Leu11775=) c.17086C= (p.Leu5696=) c.6940C= (p.Leu2314=) |