Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530505G>A | CA430235101 | TTN,TTN-AS1 | c.98406C>T (p.Thr32802=) c.79491C>T (p.Thr26497=) c.79290C>T (p.Thr26430=) c.78915C>T (p.Thr26305=) c.106110C>T (p.Thr35370=) c.101187C>T (p.Thr33729=) n.446+6869G>A n.220-5227G>A c.105207C>T (p.Thr35069=) c.79101C>T (p.Thr26367=) c.78960C>T (p.Thr26320=) c.105003C>T (p.Thr35001=) c.100401C>T (p.Thr33467=) c.100398C>T (p.Thr33466=) c.97440C>T (p.Thr32480=) c.79056C>T (p.Thr26352=) c.100551C>T (p.Thr33517=) c.100548C>T (p.Thr33516=) c.99981C>T (p.Thr33327=) c.97323C>T (p.Thr32441=) c.97242C>T (p.Thr32414=) c.79005C>T (p.Thr26335=) c.68859C>T (p.Thr22953=) | dbSNP |
2 | g.178530505G>C | CA430235102 | TTN,TTN-AS1 | c.98406C>G (p.Thr32802=) c.79491C>G (p.Thr26497=) c.79290C>G (p.Thr26430=) c.78915C>G (p.Thr26305=) c.106110C>G (p.Thr35370=) c.101187C>G (p.Thr33729=) n.446+6869G>C n.220-5227G>C c.105207C>G (p.Thr35069=) c.79101C>G (p.Thr26367=) c.78960C>G (p.Thr26320=) c.105003C>G (p.Thr35001=) c.100401C>G (p.Thr33467=) c.100398C>G (p.Thr33466=) c.97440C>G (p.Thr32480=) c.79056C>G (p.Thr26352=) c.100551C>G (p.Thr33517=) c.100548C>G (p.Thr33516=) c.99981C>G (p.Thr33327=) c.97323C>G (p.Thr32441=) c.97242C>G (p.Thr32414=) c.79005C>G (p.Thr26335=) c.68859C>G (p.Thr22953=) | |
2 | g.178530505G>T | CA430235103 | TTN,TTN-AS1 | c.98406C>A (p.Thr32802=) c.79491C>A (p.Thr26497=) c.79290C>A (p.Thr26430=) c.78915C>A (p.Thr26305=) c.106110C>A (p.Thr35370=) c.101187C>A (p.Thr33729=) n.446+6869G>T n.220-5227G>T c.105207C>A (p.Thr35069=) c.79101C>A (p.Thr26367=) c.78960C>A (p.Thr26320=) c.105003C>A (p.Thr35001=) c.100401C>A (p.Thr33467=) c.100398C>A (p.Thr33466=) c.97440C>A (p.Thr32480=) c.79056C>A (p.Thr26352=) c.100551C>A (p.Thr33517=) c.100548C>A (p.Thr33516=) c.99981C>A (p.Thr33327=) c.97323C>A (p.Thr32441=) c.97242C>A (p.Thr32414=) c.79005C>A (p.Thr26335=) c.68859C>A (p.Thr22953=) | |
2 | g.178530506G>A | CA349407015 | TTN,TTN-AS1 | c.98405C>T (p.Thr32802Ile) c.79490C>T (p.Thr26497Ile) c.79289C>T (p.Thr26430Ile) c.78914C>T (p.Thr26305Ile) c.106109C>T (p.Thr35370Ile) c.101186C>T (p.Thr33729Ile) n.446+6870G>A n.220-5226G>A c.105206C>T (p.Thr35069Ile) c.79100C>T (p.Thr26367Ile) c.78959C>T (p.Thr26320Ile) c.105002C>T (p.Thr35001Ile) c.100400C>T (p.Thr33467Ile) c.100397C>T (p.Thr33466Ile) c.97439C>T (p.Thr32480Ile) c.79055C>T (p.Thr26352Ile) c.100550C>T (p.Thr33517Ile) c.100547C>T (p.Thr33516Ile) c.99980C>T (p.Thr33327Ile) c.97322C>T (p.Thr32441Ile) c.97241C>T (p.Thr32414Ile) c.79004C>T (p.Thr26335Ile) c.68858C>T (p.Thr22953Ile) | gnomAD v4 |
2 | g.178530506G>C | CA349407016 | TTN,TTN-AS1 | c.98405C>G (p.Thr32802Ser) c.79490C>G (p.Thr26497Ser) c.79289C>G (p.Thr26430Ser) c.78914C>G (p.Thr26305Ser) c.106109C>G (p.Thr35370Ser) c.101186C>G (p.Thr33729Ser) n.446+6870G>C n.220-5226G>C c.105206C>G (p.Thr35069Ser) c.79100C>G (p.Thr26367Ser) c.78959C>G (p.Thr26320Ser) c.105002C>G (p.Thr35001Ser) c.100400C>G (p.Thr33467Ser) c.100397C>G (p.Thr33466Ser) c.97439C>G (p.Thr32480Ser) c.79055C>G (p.Thr26352Ser) c.100550C>G (p.Thr33517Ser) c.100547C>G (p.Thr33516Ser) c.99980C>G (p.Thr33327Ser) c.97322C>G (p.Thr32441Ser) c.97241C>G (p.Thr32414Ser) c.79004C>G (p.Thr26335Ser) c.68858C>G (p.Thr22953Ser) | dbSNP |
2 | g.178530506G= | CA1310514699 | TTN,TTN-AS1 | c.98405C= (p.Thr32802=) c.79490C= (p.Thr26497=) c.79289C= (p.Thr26430=) c.78914C= (p.Thr26305=) c.106109C= (p.Thr35370=) c.101186C= (p.Thr33729=) n.446+6870G= n.220-5226G= c.105206C= (p.Thr35069=) c.79100C= (p.Thr26367=) c.78959C= (p.Thr26320=) c.105002C= (p.Thr35001=) c.100400C= (p.Thr33467=) c.100397C= (p.Thr33466=) c.97439C= (p.Thr32480=) c.79055C= (p.Thr26352=) c.100550C= (p.Thr33517=) c.100547C= (p.Thr33516=) c.99980C= (p.Thr33327=) c.97322C= (p.Thr32441=) c.97241C= (p.Thr32414=) c.79004C= (p.Thr26335=) c.68858C= (p.Thr22953=) | |
2 | g.178530506G>T | CA60953420 | TTN,TTN-AS1 | c.98405C>A (p.Thr32802Asn) c.79490C>A (p.Thr26497Asn) c.79289C>A (p.Thr26430Asn) c.78914C>A (p.Thr26305Asn) c.106109C>A (p.Thr35370Asn) c.101186C>A (p.Thr33729Asn) n.446+6870G>T n.220-5226G>T c.105206C>A (p.Thr35069Asn) c.79100C>A (p.Thr26367Asn) c.78959C>A (p.Thr26320Asn) c.105002C>A (p.Thr35001Asn) c.100400C>A (p.Thr33467Asn) c.100397C>A (p.Thr33466Asn) c.97439C>A (p.Thr32480Asn) c.79055C>A (p.Thr26352Asn) c.100550C>A (p.Thr33517Asn) c.100547C>A (p.Thr33516Asn) c.99980C>A (p.Thr33327Asn) c.97322C>A (p.Thr32441Asn) c.97241C>A (p.Thr32414Asn) c.79004C>A (p.Thr26335Asn) c.68858C>A (p.Thr22953Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530507T>A | CA349407018 | TTN,TTN-AS1 | c.98404A>T (p.Thr32802Ser) c.79489A>T (p.Thr26497Ser) c.79288A>T (p.Thr26430Ser) c.78913A>T (p.Thr26305Ser) c.106108A>T (p.Thr35370Ser) c.101185A>T (p.Thr33729Ser) n.446+6871T>A n.220-5225T>A c.105205A>T (p.Thr35069Ser) c.79099A>T (p.Thr26367Ser) c.78958A>T (p.Thr26320Ser) c.105001A>T (p.Thr35001Ser) c.100399A>T (p.Thr33467Ser) c.100396A>T (p.Thr33466Ser) c.97438A>T (p.Thr32480Ser) c.79054A>T (p.Thr26352Ser) c.100549A>T (p.Thr33517Ser) c.100546A>T (p.Thr33516Ser) c.99979A>T (p.Thr33327Ser) c.97321A>T (p.Thr32441Ser) c.97240A>T (p.Thr32414Ser) c.79003A>T (p.Thr26335Ser) c.68857A>T (p.Thr22953Ser) | |
2 | g.178530507T>C | CA60953427 | TTN,TTN-AS1 | c.98404A>G (p.Thr32802Ala) c.79489A>G (p.Thr26497Ala) c.79288A>G (p.Thr26430Ala) c.78913A>G (p.Thr26305Ala) c.106108A>G (p.Thr35370Ala) c.101185A>G (p.Thr33729Ala) n.446+6871T>C n.220-5225T>C c.105205A>G (p.Thr35069Ala) c.79099A>G (p.Thr26367Ala) c.78958A>G (p.Thr26320Ala) c.105001A>G (p.Thr35001Ala) c.100399A>G (p.Thr33467Ala) c.100396A>G (p.Thr33466Ala) c.97438A>G (p.Thr32480Ala) c.79054A>G (p.Thr26352Ala) c.100549A>G (p.Thr33517Ala) c.100546A>G (p.Thr33516Ala) c.99979A>G (p.Thr33327Ala) c.97321A>G (p.Thr32441Ala) c.97240A>G (p.Thr32414Ala) c.79003A>G (p.Thr26335Ala) c.68857A>G (p.Thr22953Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530507T>G | CA349407017 | TTN,TTN-AS1 | c.98404A>C (p.Thr32802Pro) c.79489A>C (p.Thr26497Pro) c.79288A>C (p.Thr26430Pro) c.78913A>C (p.Thr26305Pro) c.106108A>C (p.Thr35370Pro) c.101185A>C (p.Thr33729Pro) n.446+6871T>G n.220-5225T>G c.105205A>C (p.Thr35069Pro) c.79099A>C (p.Thr26367Pro) c.78958A>C (p.Thr26320Pro) c.105001A>C (p.Thr35001Pro) c.100399A>C (p.Thr33467Pro) c.100396A>C (p.Thr33466Pro) c.97438A>C (p.Thr32480Pro) c.79054A>C (p.Thr26352Pro) c.100549A>C (p.Thr33517Pro) c.100546A>C (p.Thr33516Pro) c.99979A>C (p.Thr33327Pro) c.97321A>C (p.Thr32441Pro) c.97240A>C (p.Thr32414Pro) c.79003A>C (p.Thr26335Pro) c.68857A>C (p.Thr22953Pro) | dbSNP |
2 | g.178530507T= | CA1310514701 | TTN,TTN-AS1 | c.98404A= (p.Thr32802=) c.79489A= (p.Thr26497=) c.79288A= (p.Thr26430=) c.78913A= (p.Thr26305=) c.106108A= (p.Thr35370=) c.101185A= (p.Thr33729=) n.446+6871T= n.220-5225T= c.105205A= (p.Thr35069=) c.79099A= (p.Thr26367=) c.78958A= (p.Thr26320=) c.105001A= (p.Thr35001=) c.100399A= (p.Thr33467=) c.100396A= (p.Thr33466=) c.97438A= (p.Thr32480=) c.79054A= (p.Thr26352=) c.100549A= (p.Thr33517=) c.100546A= (p.Thr33516=) c.99979A= (p.Thr33327=) c.97321A= (p.Thr32441=) c.97240A= (p.Thr32414=) c.79003A= (p.Thr26335=) c.68857A= (p.Thr22953=) | |
2 | g.178530508T>A | CA349407019 | TTN,TTN-AS1 | c.98403A>T (p.Lys32801Asn) c.79488A>T (p.Lys26496Asn) c.79287A>T (p.Lys26429Asn) c.78912A>T (p.Lys26304Asn) c.106107A>T (p.Lys35369Asn) c.101184A>T (p.Lys33728Asn) n.446+6872T>A n.220-5224T>A c.105204A>T (p.Lys35068Asn) c.79098A>T (p.Lys26366Asn) c.78957A>T (p.Lys26319Asn) c.105000A>T (p.Lys35000Asn) c.100398A>T (p.Lys33466Asn) c.100395A>T (p.Lys33465Asn) c.97437A>T (p.Lys32479Asn) c.79053A>T (p.Lys26351Asn) c.100548A>T (p.Lys33516Asn) c.100545A>T (p.Lys33515Asn) c.99978A>T (p.Lys33326Asn) c.97320A>T (p.Lys32440Asn) c.97239A>T (p.Lys32413Asn) c.79002A>T (p.Lys26334Asn) c.68856A>T (p.Lys22952Asn) | |
2 | g.178530508T>C | CA430235110 | TTN,TTN-AS1 | c.98403A>G (p.Lys32801=) c.79488A>G (p.Lys26496=) c.79287A>G (p.Lys26429=) c.78912A>G (p.Lys26304=) c.106107A>G (p.Lys35369=) c.101184A>G (p.Lys33728=) n.446+6872T>C n.220-5224T>C c.105204A>G (p.Lys35068=) c.79098A>G (p.Lys26366=) c.78957A>G (p.Lys26319=) c.105000A>G (p.Lys35000=) c.100398A>G (p.Lys33466=) c.100395A>G (p.Lys33465=) c.97437A>G (p.Lys32479=) c.79053A>G (p.Lys26351=) c.100548A>G (p.Lys33516=) c.100545A>G (p.Lys33515=) c.99978A>G (p.Lys33326=) c.97320A>G (p.Lys32440=) c.97239A>G (p.Lys32413=) c.79002A>G (p.Lys26334=) c.68856A>G (p.Lys22952=) | |
2 | g.178530508T>G | CA349407020 | TTN,TTN-AS1 | c.98403A>C (p.Lys32801Asn) c.79488A>C (p.Lys26496Asn) c.79287A>C (p.Lys26429Asn) c.78912A>C (p.Lys26304Asn) c.106107A>C (p.Lys35369Asn) c.101184A>C (p.Lys33728Asn) n.446+6872T>G n.220-5224T>G c.105204A>C (p.Lys35068Asn) c.79098A>C (p.Lys26366Asn) c.78957A>C (p.Lys26319Asn) c.105000A>C (p.Lys35000Asn) c.100398A>C (p.Lys33466Asn) c.100395A>C (p.Lys33465Asn) c.97437A>C (p.Lys32479Asn) c.79053A>C (p.Lys26351Asn) c.100548A>C (p.Lys33516Asn) c.100545A>C (p.Lys33515Asn) c.99978A>C (p.Lys33326Asn) c.97320A>C (p.Lys32440Asn) c.97239A>C (p.Lys32413Asn) c.79002A>C (p.Lys26334Asn) c.68856A>C (p.Lys22952Asn) | |
2 | g.178530509T>A | CA349407021 | TTN,TTN-AS1 | c.98402A>T (p.Lys32801Ile) c.79487A>T (p.Lys26496Ile) c.79286A>T (p.Lys26429Ile) c.78911A>T (p.Lys26304Ile) c.106106A>T (p.Lys35369Ile) c.101183A>T (p.Lys33728Ile) n.446+6873T>A n.220-5223T>A c.105203A>T (p.Lys35068Ile) c.79097A>T (p.Lys26366Ile) c.78956A>T (p.Lys26319Ile) c.104999A>T (p.Lys35000Ile) c.100397A>T (p.Lys33466Ile) c.100394A>T (p.Lys33465Ile) c.97436A>T (p.Lys32479Ile) c.79052A>T (p.Lys26351Ile) c.100547A>T (p.Lys33516Ile) c.100544A>T (p.Lys33515Ile) c.99977A>T (p.Lys33326Ile) c.97319A>T (p.Lys32440Ile) c.97238A>T (p.Lys32413Ile) c.79001A>T (p.Lys26334Ile) c.68855A>T (p.Lys22952Ile) | |
2 | g.178530509T>C | CA349407022 | TTN,TTN-AS1 | c.98402A>G (p.Lys32801Arg) c.79487A>G (p.Lys26496Arg) c.79286A>G (p.Lys26429Arg) c.78911A>G (p.Lys26304Arg) c.106106A>G (p.Lys35369Arg) c.101183A>G (p.Lys33728Arg) n.446+6873T>C n.220-5223T>C c.105203A>G (p.Lys35068Arg) c.79097A>G (p.Lys26366Arg) c.78956A>G (p.Lys26319Arg) c.104999A>G (p.Lys35000Arg) c.100397A>G (p.Lys33466Arg) c.100394A>G (p.Lys33465Arg) c.97436A>G (p.Lys32479Arg) c.79052A>G (p.Lys26351Arg) c.100547A>G (p.Lys33516Arg) c.100544A>G (p.Lys33515Arg) c.99977A>G (p.Lys33326Arg) c.97319A>G (p.Lys32440Arg) c.97238A>G (p.Lys32413Arg) c.79001A>G (p.Lys26334Arg) c.68855A>G (p.Lys22952Arg) | |
2 | g.178530509T>G | CA349407023 | TTN,TTN-AS1 | c.98402A>C (p.Lys32801Thr) c.79487A>C (p.Lys26496Thr) c.79286A>C (p.Lys26429Thr) c.78911A>C (p.Lys26304Thr) c.106106A>C (p.Lys35369Thr) c.101183A>C (p.Lys33728Thr) n.446+6873T>G n.220-5223T>G c.105203A>C (p.Lys35068Thr) c.79097A>C (p.Lys26366Thr) c.78956A>C (p.Lys26319Thr) c.104999A>C (p.Lys35000Thr) c.100397A>C (p.Lys33466Thr) c.100394A>C (p.Lys33465Thr) c.97436A>C (p.Lys32479Thr) c.79052A>C (p.Lys26351Thr) c.100547A>C (p.Lys33516Thr) c.100544A>C (p.Lys33515Thr) c.99977A>C (p.Lys33326Thr) c.97319A>C (p.Lys32440Thr) c.97238A>C (p.Lys32413Thr) c.79001A>C (p.Lys26334Thr) c.68855A>C (p.Lys22952Thr) | |
2 | g.178530510T>A | CA349407024 | TTN,TTN-AS1 | c.98401A>T (p.Lys32801Ter) c.79486A>T (p.Lys26496Ter) c.79285A>T (p.Lys26429Ter) c.78910A>T (p.Lys26304Ter) c.106105A>T (p.Lys35369Ter) c.101182A>T (p.Lys33728Ter) n.446+6874T>A n.220-5222T>A c.105202A>T (p.Lys35068Ter) c.79096A>T (p.Lys26366Ter) c.78955A>T (p.Lys26319Ter) c.104998A>T (p.Lys35000Ter) c.100396A>T (p.Lys33466Ter) c.100393A>T (p.Lys33465Ter) c.97435A>T (p.Lys32479Ter) c.79051A>T (p.Lys26351Ter) c.100546A>T (p.Lys33516Ter) c.100543A>T (p.Lys33515Ter) c.99976A>T (p.Lys33326Ter) c.97318A>T (p.Lys32440Ter) c.97237A>T (p.Lys32413Ter) c.79000A>T (p.Lys26334Ter) c.68854A>T (p.Lys22952Ter) | |
2 | g.178530510T>C | CA349407025 | TTN,TTN-AS1 | c.98401A>G (p.Lys32801Glu) c.79486A>G (p.Lys26496Glu) c.79285A>G (p.Lys26429Glu) c.78910A>G (p.Lys26304Glu) c.106105A>G (p.Lys35369Glu) c.101182A>G (p.Lys33728Glu) n.446+6874T>C n.220-5222T>C c.105202A>G (p.Lys35068Glu) c.79096A>G (p.Lys26366Glu) c.78955A>G (p.Lys26319Glu) c.104998A>G (p.Lys35000Glu) c.100396A>G (p.Lys33466Glu) c.100393A>G (p.Lys33465Glu) c.97435A>G (p.Lys32479Glu) c.79051A>G (p.Lys26351Glu) c.100546A>G (p.Lys33516Glu) c.100543A>G (p.Lys33515Glu) c.99976A>G (p.Lys33326Glu) c.97318A>G (p.Lys32440Glu) c.97237A>G (p.Lys32413Glu) c.79000A>G (p.Lys26334Glu) c.68854A>G (p.Lys22952Glu) | |
2 | g.178530510T>G | CA349407026 | TTN,TTN-AS1 | c.98401A>C (p.Lys32801Gln) c.79486A>C (p.Lys26496Gln) c.79285A>C (p.Lys26429Gln) c.78910A>C (p.Lys26304Gln) c.106105A>C (p.Lys35369Gln) c.101182A>C (p.Lys33728Gln) n.446+6874T>G n.220-5222T>G c.105202A>C (p.Lys35068Gln) c.79096A>C (p.Lys26366Gln) c.78955A>C (p.Lys26319Gln) c.104998A>C (p.Lys35000Gln) c.100396A>C (p.Lys33466Gln) c.100393A>C (p.Lys33465Gln) c.97435A>C (p.Lys32479Gln) c.79051A>C (p.Lys26351Gln) c.100546A>C (p.Lys33516Gln) c.100543A>C (p.Lys33515Gln) c.99976A>C (p.Lys33326Gln) c.97318A>C (p.Lys32440Gln) c.97237A>C (p.Lys32413Gln) c.79000A>C (p.Lys26334Gln) c.68854A>C (p.Lys22952Gln) | |
2 | g.178530511A= | CA1310514702 | TTN,TTN-AS1 | c.98400T= (p.Ser32800=) c.79485T= (p.Ser26495=) c.79284T= (p.Ser26428=) c.78909T= (p.Ser26303=) c.106104T= (p.Ser35368=) c.101181T= (p.Ser33727=) n.446+6875A= n.220-5221A= c.105201T= (p.Ser35067=) c.79095T= (p.Ser26365=) c.78954T= (p.Ser26318=) c.104997T= (p.Ser34999=) c.100395T= (p.Ser33465=) c.100392T= (p.Ser33464=) c.97434T= (p.Ser32478=) c.79050T= (p.Ser26350=) c.100545T= (p.Ser33515=) c.100542T= (p.Ser33514=) c.99975T= (p.Ser33325=) c.97317T= (p.Ser32439=) c.97236T= (p.Ser32412=) c.78999T= (p.Ser26333=) c.68853T= (p.Ser22951=) | |
2 | g.178530511A>C | CA430235115 | TTN,TTN-AS1 | c.98400T>G (p.Ser32800=) c.79485T>G (p.Ser26495=) c.79284T>G (p.Ser26428=) c.78909T>G (p.Ser26303=) c.106104T>G (p.Ser35368=) c.101181T>G (p.Ser33727=) n.446+6875A>C n.220-5221A>C c.105201T>G (p.Ser35067=) c.79095T>G (p.Ser26365=) c.78954T>G (p.Ser26318=) c.104997T>G (p.Ser34999=) c.100395T>G (p.Ser33465=) c.100392T>G (p.Ser33464=) c.97434T>G (p.Ser32478=) c.79050T>G (p.Ser26350=) c.100545T>G (p.Ser33515=) c.100542T>G (p.Ser33514=) c.99975T>G (p.Ser33325=) c.97317T>G (p.Ser32439=) c.97236T>G (p.Ser32412=) c.78999T>G (p.Ser26333=) c.68853T>G (p.Ser22951=) | |
2 | g.178530511A>G | CA430235116 | TTN,TTN-AS1 | c.98400T>C (p.Ser32800=) c.79485T>C (p.Ser26495=) c.79284T>C (p.Ser26428=) c.78909T>C (p.Ser26303=) c.106104T>C (p.Ser35368=) c.101181T>C (p.Ser33727=) n.446+6875A>G n.220-5221A>G c.105201T>C (p.Ser35067=) c.79095T>C (p.Ser26365=) c.78954T>C (p.Ser26318=) c.104997T>C (p.Ser34999=) c.100395T>C (p.Ser33465=) c.100392T>C (p.Ser33464=) c.97434T>C (p.Ser32478=) c.79050T>C (p.Ser26350=) c.100545T>C (p.Ser33515=) c.100542T>C (p.Ser33514=) c.99975T>C (p.Ser33325=) c.97317T>C (p.Ser32439=) c.97236T>C (p.Ser32412=) c.78999T>C (p.Ser26333=) c.68853T>C (p.Ser22951=) | dbSNP |
2 | g.178530511A>T | CA430235117 | TTN,TTN-AS1 | c.98400T>A (p.Ser32800=) c.79485T>A (p.Ser26495=) c.79284T>A (p.Ser26428=) c.78909T>A (p.Ser26303=) c.106104T>A (p.Ser35368=) c.101181T>A (p.Ser33727=) n.446+6875A>T n.220-5221A>T c.105201T>A (p.Ser35067=) c.79095T>A (p.Ser26365=) c.78954T>A (p.Ser26318=) c.104997T>A (p.Ser34999=) c.100395T>A (p.Ser33465=) c.100392T>A (p.Ser33464=) c.97434T>A (p.Ser32478=) c.79050T>A (p.Ser26350=) c.100545T>A (p.Ser33515=) c.100542T>A (p.Ser33514=) c.99975T>A (p.Ser33325=) c.97317T>A (p.Ser32439=) c.97236T>A (p.Ser32412=) c.78999T>A (p.Ser26333=) c.68853T>A (p.Ser22951=) | dbSNP |
2 | g.178530512G>A | CA349407027 | TTN,TTN-AS1 | c.98399C>T (p.Ser32800Phe) c.79484C>T (p.Ser26495Phe) c.79283C>T (p.Ser26428Phe) c.78908C>T (p.Ser26303Phe) c.106103C>T (p.Ser35368Phe) c.101180C>T (p.Ser33727Phe) n.446+6876G>A n.220-5220G>A c.105200C>T (p.Ser35067Phe) c.79094C>T (p.Ser26365Phe) c.78953C>T (p.Ser26318Phe) c.104996C>T (p.Ser34999Phe) c.100394C>T (p.Ser33465Phe) c.100391C>T (p.Ser33464Phe) c.97433C>T (p.Ser32478Phe) c.79049C>T (p.Ser26350Phe) c.100544C>T (p.Ser33515Phe) c.100541C>T (p.Ser33514Phe) c.99974C>T (p.Ser33325Phe) c.97316C>T (p.Ser32439Phe) c.97235C>T (p.Ser32412Phe) c.78998C>T (p.Ser26333Phe) c.68852C>T (p.Ser22951Phe) | dbSNP |
2 | g.178530512G>C | CA349407028 | TTN,TTN-AS1 | c.98399C>G (p.Ser32800Cys) c.79484C>G (p.Ser26495Cys) c.79283C>G (p.Ser26428Cys) c.78908C>G (p.Ser26303Cys) c.106103C>G (p.Ser35368Cys) c.101180C>G (p.Ser33727Cys) n.446+6876G>C n.220-5220G>C c.105200C>G (p.Ser35067Cys) c.79094C>G (p.Ser26365Cys) c.78953C>G (p.Ser26318Cys) c.104996C>G (p.Ser34999Cys) c.100394C>G (p.Ser33465Cys) c.100391C>G (p.Ser33464Cys) c.97433C>G (p.Ser32478Cys) c.79049C>G (p.Ser26350Cys) c.100544C>G (p.Ser33515Cys) c.100541C>G (p.Ser33514Cys) c.99974C>G (p.Ser33325Cys) c.97316C>G (p.Ser32439Cys) c.97235C>G (p.Ser32412Cys) c.78998C>G (p.Ser26333Cys) c.68852C>G (p.Ser22951Cys) | ClinVar |
2 | g.178530512G= | CA1310514703 | TTN,TTN-AS1 | c.98399C= (p.Ser32800=) c.79484C= (p.Ser26495=) c.79283C= (p.Ser26428=) c.78908C= (p.Ser26303=) c.106103C= (p.Ser35368=) c.101180C= (p.Ser33727=) n.446+6876G= n.220-5220G= c.105200C= (p.Ser35067=) c.79094C= (p.Ser26365=) c.78953C= (p.Ser26318=) c.104996C= (p.Ser34999=) c.100394C= (p.Ser33465=) c.100391C= (p.Ser33464=) c.97433C= (p.Ser32478=) c.79049C= (p.Ser26350=) c.100544C= (p.Ser33515=) c.100541C= (p.Ser33514=) c.99974C= (p.Ser33325=) c.97316C= (p.Ser32439=) c.97235C= (p.Ser32412=) c.78998C= (p.Ser26333=) c.68852C= (p.Ser22951=) | |
2 | g.178530512G>T | CA349407029 | TTN,TTN-AS1 | c.98399C>A (p.Ser32800Tyr) c.79484C>A (p.Ser26495Tyr) c.79283C>A (p.Ser26428Tyr) c.78908C>A (p.Ser26303Tyr) c.106103C>A (p.Ser35368Tyr) c.101180C>A (p.Ser33727Tyr) n.446+6876G>T n.220-5220G>T c.105200C>A (p.Ser35067Tyr) c.79094C>A (p.Ser26365Tyr) c.78953C>A (p.Ser26318Tyr) c.104996C>A (p.Ser34999Tyr) c.100394C>A (p.Ser33465Tyr) c.100391C>A (p.Ser33464Tyr) c.97433C>A (p.Ser32478Tyr) c.79049C>A (p.Ser26350Tyr) c.100544C>A (p.Ser33515Tyr) c.100541C>A (p.Ser33514Tyr) c.99974C>A (p.Ser33325Tyr) c.97316C>A (p.Ser32439Tyr) c.97235C>A (p.Ser32412Tyr) c.78998C>A (p.Ser26333Tyr) c.68852C>A (p.Ser22951Tyr) | |
2 | g.178530513A= | CA1310514705 | TTN,TTN-AS1 | c.98398T= (p.Ser32800=) c.79483T= (p.Ser26495=) c.79282T= (p.Ser26428=) c.78907T= (p.Ser26303=) c.106102T= (p.Ser35368=) c.101179T= (p.Ser33727=) n.446+6877A= n.220-5219A= c.105199T= (p.Ser35067=) c.79093T= (p.Ser26365=) c.78952T= (p.Ser26318=) c.104995T= (p.Ser34999=) c.100393T= (p.Ser33465=) c.100390T= (p.Ser33464=) c.97432T= (p.Ser32478=) c.79048T= (p.Ser26350=) c.100543T= (p.Ser33515=) c.100540T= (p.Ser33514=) c.99973T= (p.Ser33325=) c.97315T= (p.Ser32439=) c.97234T= (p.Ser32412=) c.78997T= (p.Ser26333=) c.68851T= (p.Ser22951=) | |
2 | g.178530513A>C | CA349407030 | TTN,TTN-AS1 | c.98398T>G (p.Ser32800Ala) c.79483T>G (p.Ser26495Ala) c.79282T>G (p.Ser26428Ala) c.78907T>G (p.Ser26303Ala) c.106102T>G (p.Ser35368Ala) c.101179T>G (p.Ser33727Ala) n.446+6877A>C n.220-5219A>C c.105199T>G (p.Ser35067Ala) c.79093T>G (p.Ser26365Ala) c.78952T>G (p.Ser26318Ala) c.104995T>G (p.Ser34999Ala) c.100393T>G (p.Ser33465Ala) c.100390T>G (p.Ser33464Ala) c.97432T>G (p.Ser32478Ala) c.79048T>G (p.Ser26350Ala) c.100543T>G (p.Ser33515Ala) c.100540T>G (p.Ser33514Ala) c.99973T>G (p.Ser33325Ala) c.97315T>G (p.Ser32439Ala) c.97234T>G (p.Ser32412Ala) c.78997T>G (p.Ser26333Ala) c.68851T>G (p.Ser22951Ala) | |
2 | g.178530513A>G | CA349407031 | TTN,TTN-AS1 | c.98398T>C (p.Ser32800Pro) c.79483T>C (p.Ser26495Pro) c.79282T>C (p.Ser26428Pro) c.78907T>C (p.Ser26303Pro) c.106102T>C (p.Ser35368Pro) c.101179T>C (p.Ser33727Pro) n.446+6877A>G n.220-5219A>G c.105199T>C (p.Ser35067Pro) c.79093T>C (p.Ser26365Pro) c.78952T>C (p.Ser26318Pro) c.104995T>C (p.Ser34999Pro) c.100393T>C (p.Ser33465Pro) c.100390T>C (p.Ser33464Pro) c.97432T>C (p.Ser32478Pro) c.79048T>C (p.Ser26350Pro) c.100543T>C (p.Ser33515Pro) c.100540T>C (p.Ser33514Pro) c.99973T>C (p.Ser33325Pro) c.97315T>C (p.Ser32439Pro) c.97234T>C (p.Ser32412Pro) c.78997T>C (p.Ser26333Pro) c.68851T>C (p.Ser22951Pro) | ClinVar dbSNP |
2 | g.178530513A>T | CA349407032 | TTN,TTN-AS1 | c.98398T>A (p.Ser32800Thr) c.79483T>A (p.Ser26495Thr) c.79282T>A (p.Ser26428Thr) c.78907T>A (p.Ser26303Thr) c.106102T>A (p.Ser35368Thr) c.101179T>A (p.Ser33727Thr) n.446+6877A>T n.220-5219A>T c.105199T>A (p.Ser35067Thr) c.79093T>A (p.Ser26365Thr) c.78952T>A (p.Ser26318Thr) c.104995T>A (p.Ser34999Thr) c.100393T>A (p.Ser33465Thr) c.100390T>A (p.Ser33464Thr) c.97432T>A (p.Ser32478Thr) c.79048T>A (p.Ser26350Thr) c.100543T>A (p.Ser33515Thr) c.100540T>A (p.Ser33514Thr) c.99973T>A (p.Ser33325Thr) c.97315T>A (p.Ser32439Thr) c.97234T>A (p.Ser32412Thr) c.78997T>A (p.Ser26333Thr) c.68851T>A (p.Ser22951Thr) | |
2 | g.178530514C>A | CA430235120 | TTN,TTN-AS1 | c.98397G>T (p.Thr32799=) c.79482G>T (p.Thr26494=) c.79281G>T (p.Thr26427=) c.78906G>T (p.Thr26302=) c.106101G>T (p.Thr35367=) c.101178G>T (p.Thr33726=) n.446+6878C>A n.220-5218C>A c.105198G>T (p.Thr35066=) c.79092G>T (p.Thr26364=) c.78951G>T (p.Thr26317=) c.104994G>T (p.Thr34998=) c.100392G>T (p.Thr33464=) c.100389G>T (p.Thr33463=) c.97431G>T (p.Thr32477=) c.79047G>T (p.Thr26349=) c.100542G>T (p.Thr33514=) c.100539G>T (p.Thr33513=) c.99972G>T (p.Thr33324=) c.97314G>T (p.Thr32438=) c.97233G>T (p.Thr32411=) c.78996G>T (p.Thr26332=) c.68850G>T (p.Thr22950=) | dbSNP |
2 | g.178530514C= | CA1310514706 | TTN,TTN-AS1 | c.98397G= (p.Thr32799=) c.79482G= (p.Thr26494=) c.79281G= (p.Thr26427=) c.78906G= (p.Thr26302=) c.106101G= (p.Thr35367=) c.101178G= (p.Thr33726=) n.446+6878C= n.220-5218C= c.105198G= (p.Thr35066=) c.79092G= (p.Thr26364=) c.78951G= (p.Thr26317=) c.104994G= (p.Thr34998=) c.100392G= (p.Thr33464=) c.100389G= (p.Thr33463=) c.97431G= (p.Thr32477=) c.79047G= (p.Thr26349=) c.100542G= (p.Thr33514=) c.100539G= (p.Thr33513=) c.99972G= (p.Thr33324=) c.97314G= (p.Thr32438=) c.97233G= (p.Thr32411=) c.78996G= (p.Thr26332=) c.68850G= (p.Thr22950=) | |
2 | g.178530514C>G | CA430235121 | TTN,TTN-AS1 | c.98397G>C (p.Thr32799=) c.79482G>C (p.Thr26494=) c.79281G>C (p.Thr26427=) c.78906G>C (p.Thr26302=) c.106101G>C (p.Thr35367=) c.101178G>C (p.Thr33726=) n.446+6878C>G n.220-5218C>G c.105198G>C (p.Thr35066=) c.79092G>C (p.Thr26364=) c.78951G>C (p.Thr26317=) c.104994G>C (p.Thr34998=) c.100392G>C (p.Thr33464=) c.100389G>C (p.Thr33463=) c.97431G>C (p.Thr32477=) c.79047G>C (p.Thr26349=) c.100542G>C (p.Thr33514=) c.100539G>C (p.Thr33513=) c.99972G>C (p.Thr33324=) c.97314G>C (p.Thr32438=) c.97233G>C (p.Thr32411=) c.78996G>C (p.Thr26332=) c.68850G>C (p.Thr22950=) | |
2 | g.178530514C>T | CA1985164 | TTN,TTN-AS1 | c.98397G>A (p.Thr32799=) c.79482G>A (p.Thr26494=) c.79281G>A (p.Thr26427=) c.78906G>A (p.Thr26302=) c.106101G>A (p.Thr35367=) c.101178G>A (p.Thr33726=) n.446+6878C>T n.220-5218C>T c.105198G>A (p.Thr35066=) c.79092G>A (p.Thr26364=) c.78951G>A (p.Thr26317=) c.104994G>A (p.Thr34998=) c.100392G>A (p.Thr33464=) c.100389G>A (p.Thr33463=) c.97431G>A (p.Thr32477=) c.79047G>A (p.Thr26349=) c.100542G>A (p.Thr33514=) c.100539G>A (p.Thr33513=) c.99972G>A (p.Thr33324=) c.97314G>A (p.Thr32438=) c.97233G>A (p.Thr32411=) c.78996G>A (p.Thr26332=) c.68850G>A (p.Thr22950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530515G>A | CA1985165 | TTN,TTN-AS1 | c.98396C>T (p.Thr32799Met) c.79481C>T (p.Thr26494Met) c.79280C>T (p.Thr26427Met) c.78905C>T (p.Thr26302Met) c.106100C>T (p.Thr35367Met) c.101177C>T (p.Thr33726Met) n.446+6879G>A n.220-5217G>A c.105197C>T (p.Thr35066Met) c.79091C>T (p.Thr26364Met) c.78950C>T (p.Thr26317Met) c.104993C>T (p.Thr34998Met) c.100391C>T (p.Thr33464Met) c.100388C>T (p.Thr33463Met) c.97430C>T (p.Thr32477Met) c.79046C>T (p.Thr26349Met) c.100541C>T (p.Thr33514Met) c.100538C>T (p.Thr33513Met) c.99971C>T (p.Thr33324Met) c.97313C>T (p.Thr32438Met) c.97232C>T (p.Thr32411Met) c.78995C>T (p.Thr26332Met) c.68849C>T (p.Thr22950Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530515G>C | CA349407033 | TTN,TTN-AS1 | c.98396C>G (p.Thr32799Arg) c.79481C>G (p.Thr26494Arg) c.79280C>G (p.Thr26427Arg) c.78905C>G (p.Thr26302Arg) c.106100C>G (p.Thr35367Arg) c.101177C>G (p.Thr33726Arg) n.446+6879G>C n.220-5217G>C c.105197C>G (p.Thr35066Arg) c.79091C>G (p.Thr26364Arg) c.78950C>G (p.Thr26317Arg) c.104993C>G (p.Thr34998Arg) c.100391C>G (p.Thr33464Arg) c.100388C>G (p.Thr33463Arg) c.97430C>G (p.Thr32477Arg) c.79046C>G (p.Thr26349Arg) c.100541C>G (p.Thr33514Arg) c.100538C>G (p.Thr33513Arg) c.99971C>G (p.Thr33324Arg) c.97313C>G (p.Thr32438Arg) c.97232C>G (p.Thr32411Arg) c.78995C>G (p.Thr26332Arg) c.68849C>G (p.Thr22950Arg) | |
2 | g.178530515G= | CA1310514708 | TTN,TTN-AS1 | c.98396C= (p.Thr32799=) c.79481C= (p.Thr26494=) c.79280C= (p.Thr26427=) c.78905C= (p.Thr26302=) c.106100C= (p.Thr35367=) c.101177C= (p.Thr33726=) n.446+6879G= n.220-5217G= c.105197C= (p.Thr35066=) c.79091C= (p.Thr26364=) c.78950C= (p.Thr26317=) c.104993C= (p.Thr34998=) c.100391C= (p.Thr33464=) c.100388C= (p.Thr33463=) c.97430C= (p.Thr32477=) c.79046C= (p.Thr26349=) c.100541C= (p.Thr33514=) c.100538C= (p.Thr33513=) c.99971C= (p.Thr33324=) c.97313C= (p.Thr32438=) c.97232C= (p.Thr32411=) c.78995C= (p.Thr26332=) c.68849C= (p.Thr22950=) | |
2 | g.178530515G>T | CA349407034 | TTN,TTN-AS1 | c.98396C>A (p.Thr32799Lys) c.79481C>A (p.Thr26494Lys) c.79280C>A (p.Thr26427Lys) c.78905C>A (p.Thr26302Lys) c.106100C>A (p.Thr35367Lys) c.101177C>A (p.Thr33726Lys) n.446+6879G>T n.220-5217G>T c.105197C>A (p.Thr35066Lys) c.79091C>A (p.Thr26364Lys) c.78950C>A (p.Thr26317Lys) c.104993C>A (p.Thr34998Lys) c.100391C>A (p.Thr33464Lys) c.100388C>A (p.Thr33463Lys) c.97430C>A (p.Thr32477Lys) c.79046C>A (p.Thr26349Lys) c.100541C>A (p.Thr33514Lys) c.100538C>A (p.Thr33513Lys) c.99971C>A (p.Thr33324Lys) c.97313C>A (p.Thr32438Lys) c.97232C>A (p.Thr32411Lys) c.78995C>A (p.Thr26332Lys) c.68849C>A (p.Thr22950Lys) | |
2 | g.178530515dup | CA2662125860 | TTN,TTN-AS1 | c.98396dup (p.Ser32800ValfsTer2) c.79481dup (p.Ser26495ValfsTer2) c.79280dup (p.Ser26428ValfsTer2) c.78905dup (p.Ser26303ValfsTer2) c.106100dup (p.Ser35368ValfsTer2) c.101177dup (p.Ser33727ValfsTer2) n.446+6879dup n.220-5217dup c.105197dup (p.Ser35067ValfsTer2) c.79091dup (p.Ser26365ValfsTer2) c.78950dup (p.Ser26318ValfsTer2) c.104993dup (p.Ser34999ValfsTer2) c.100391dup (p.Ser33465ValfsTer2) c.100388dup (p.Ser33464ValfsTer2) c.97430dup (p.Ser32478ValfsTer2) c.79046dup (p.Ser26350ValfsTer2) c.100541dup (p.Ser33515ValfsTer2) c.100538dup (p.Ser33514ValfsTer2) c.99971dup (p.Ser33325ValfsTer2) c.97313dup (p.Ser32439ValfsTer2) c.97232dup (p.Ser32412ValfsTer2) c.78995dup (p.Ser26333ValfsTer2) c.68849dup (p.Ser22951ValfsTer2) | gnomAD v4 |
2 | g.178530516T>A | CA349407035 | TTN,TTN-AS1 | c.98395A>T (p.Thr32799Ser) c.79480A>T (p.Thr26494Ser) c.79279A>T (p.Thr26427Ser) c.78904A>T (p.Thr26302Ser) c.106099A>T (p.Thr35367Ser) c.101176A>T (p.Thr33726Ser) n.446+6880T>A n.220-5216T>A c.105196A>T (p.Thr35066Ser) c.79090A>T (p.Thr26364Ser) c.78949A>T (p.Thr26317Ser) c.104992A>T (p.Thr34998Ser) c.100390A>T (p.Thr33464Ser) c.100387A>T (p.Thr33463Ser) c.97429A>T (p.Thr32477Ser) c.79045A>T (p.Thr26349Ser) c.100540A>T (p.Thr33514Ser) c.100537A>T (p.Thr33513Ser) c.99970A>T (p.Thr33324Ser) c.97312A>T (p.Thr32438Ser) c.97231A>T (p.Thr32411Ser) c.78994A>T (p.Thr26332Ser) c.68848A>T (p.Thr22950Ser) | |
2 | g.178530516T>C | CA349407036 | TTN,TTN-AS1 | c.98395A>G (p.Thr32799Ala) c.79480A>G (p.Thr26494Ala) c.79279A>G (p.Thr26427Ala) c.78904A>G (p.Thr26302Ala) c.106099A>G (p.Thr35367Ala) c.101176A>G (p.Thr33726Ala) n.446+6880T>C n.220-5216T>C c.105196A>G (p.Thr35066Ala) c.79090A>G (p.Thr26364Ala) c.78949A>G (p.Thr26317Ala) c.104992A>G (p.Thr34998Ala) c.100390A>G (p.Thr33464Ala) c.100387A>G (p.Thr33463Ala) c.97429A>G (p.Thr32477Ala) c.79045A>G (p.Thr26349Ala) c.100540A>G (p.Thr33514Ala) c.100537A>G (p.Thr33513Ala) c.99970A>G (p.Thr33324Ala) c.97312A>G (p.Thr32438Ala) c.97231A>G (p.Thr32411Ala) c.78994A>G (p.Thr26332Ala) c.68848A>G (p.Thr22950Ala) | |
2 | g.178530516T>G | CA349407037 | TTN,TTN-AS1 | c.98395A>C (p.Thr32799Pro) c.79480A>C (p.Thr26494Pro) c.79279A>C (p.Thr26427Pro) c.78904A>C (p.Thr26302Pro) c.106099A>C (p.Thr35367Pro) c.101176A>C (p.Thr33726Pro) n.446+6880T>G n.220-5216T>G c.105196A>C (p.Thr35066Pro) c.79090A>C (p.Thr26364Pro) c.78949A>C (p.Thr26317Pro) c.104992A>C (p.Thr34998Pro) c.100390A>C (p.Thr33464Pro) c.100387A>C (p.Thr33463Pro) c.97429A>C (p.Thr32477Pro) c.79045A>C (p.Thr26349Pro) c.100540A>C (p.Thr33514Pro) c.100537A>C (p.Thr33513Pro) c.99970A>C (p.Thr33324Pro) c.97312A>C (p.Thr32438Pro) c.97231A>C (p.Thr32411Pro) c.78994A>C (p.Thr26332Pro) c.68848A>C (p.Thr22950Pro) | |
2 | g.178530517T>A | CA430235126 | TTN,TTN-AS1 | c.98394A>T (p.Gly32798=) c.79479A>T (p.Gly26493=) c.79278A>T (p.Gly26426=) c.78903A>T (p.Gly26301=) c.106098A>T (p.Gly35366=) c.101175A>T (p.Gly33725=) n.446+6881T>A n.220-5215T>A c.105195A>T (p.Gly35065=) c.79089A>T (p.Gly26363=) c.78948A>T (p.Gly26316=) c.104991A>T (p.Gly34997=) c.100389A>T (p.Gly33463=) c.100386A>T (p.Gly33462=) c.97428A>T (p.Gly32476=) c.79044A>T (p.Gly26348=) c.100539A>T (p.Gly33513=) c.100536A>T (p.Gly33512=) c.99969A>T (p.Gly33323=) c.97311A>T (p.Gly32437=) c.97230A>T (p.Gly32410=) c.78993A>T (p.Gly26331=) c.68847A>T (p.Gly22949=) | |
2 | g.178530517T>C | CA430235128 | TTN,TTN-AS1 | c.98394A>G (p.Gly32798=) c.79479A>G (p.Gly26493=) c.79278A>G (p.Gly26426=) c.78903A>G (p.Gly26301=) c.106098A>G (p.Gly35366=) c.101175A>G (p.Gly33725=) n.446+6881T>C n.220-5215T>C c.105195A>G (p.Gly35065=) c.79089A>G (p.Gly26363=) c.78948A>G (p.Gly26316=) c.104991A>G (p.Gly34997=) c.100389A>G (p.Gly33463=) c.100386A>G (p.Gly33462=) c.97428A>G (p.Gly32476=) c.79044A>G (p.Gly26348=) c.100539A>G (p.Gly33513=) c.100536A>G (p.Gly33512=) c.99969A>G (p.Gly33323=) c.97311A>G (p.Gly32437=) c.97230A>G (p.Gly32410=) c.78993A>G (p.Gly26331=) c.68847A>G (p.Gly22949=) | |
2 | g.178530517T>G | CA430235127 | TTN,TTN-AS1 | c.98394A>C (p.Gly32798=) c.79479A>C (p.Gly26493=) c.79278A>C (p.Gly26426=) c.78903A>C (p.Gly26301=) c.106098A>C (p.Gly35366=) c.101175A>C (p.Gly33725=) n.446+6881T>G n.220-5215T>G c.105195A>C (p.Gly35065=) c.79089A>C (p.Gly26363=) c.78948A>C (p.Gly26316=) c.104991A>C (p.Gly34997=) c.100389A>C (p.Gly33463=) c.100386A>C (p.Gly33462=) c.97428A>C (p.Gly32476=) c.79044A>C (p.Gly26348=) c.100539A>C (p.Gly33513=) c.100536A>C (p.Gly33512=) c.99969A>C (p.Gly33323=) c.97311A>C (p.Gly32437=) c.97230A>C (p.Gly32410=) c.78993A>C (p.Gly26331=) c.68847A>C (p.Gly22949=) | |
2 | g.178530518C>A | CA349407038 | TTN,TTN-AS1 | c.98393G>T (p.Gly32798Val) c.79478G>T (p.Gly26493Val) c.79277G>T (p.Gly26426Val) c.78902G>T (p.Gly26301Val) c.106097G>T (p.Gly35366Val) c.101174G>T (p.Gly33725Val) n.446+6882C>A n.220-5214C>A c.105194G>T (p.Gly35065Val) c.79088G>T (p.Gly26363Val) c.78947G>T (p.Gly26316Val) c.104990G>T (p.Gly34997Val) c.100388G>T (p.Gly33463Val) c.100385G>T (p.Gly33462Val) c.97427G>T (p.Gly32476Val) c.79043G>T (p.Gly26348Val) c.100538G>T (p.Gly33513Val) c.100535G>T (p.Gly33512Val) c.99968G>T (p.Gly33323Val) c.97310G>T (p.Gly32437Val) c.97229G>T (p.Gly32410Val) c.78992G>T (p.Gly26331Val) c.68846G>T (p.Gly22949Val) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530518C>G | CA349407039 | TTN,TTN-AS1 | c.98393G>C (p.Gly32798Ala) c.79478G>C (p.Gly26493Ala) c.79277G>C (p.Gly26426Ala) c.78902G>C (p.Gly26301Ala) c.106097G>C (p.Gly35366Ala) c.101174G>C (p.Gly33725Ala) n.446+6882C>G n.220-5214C>G c.105194G>C (p.Gly35065Ala) c.79088G>C (p.Gly26363Ala) c.78947G>C (p.Gly26316Ala) c.104990G>C (p.Gly34997Ala) c.100388G>C (p.Gly33463Ala) c.100385G>C (p.Gly33462Ala) c.97427G>C (p.Gly32476Ala) c.79043G>C (p.Gly26348Ala) c.100538G>C (p.Gly33513Ala) c.100535G>C (p.Gly33512Ala) c.99968G>C (p.Gly33323Ala) c.97310G>C (p.Gly32437Ala) c.97229G>C (p.Gly32410Ala) c.78992G>C (p.Gly26331Ala) c.68846G>C (p.Gly22949Ala) | gnomAD v3 gnomAD v4 |
2 | g.178530518C>T | CA349407040 | TTN,TTN-AS1 | c.98393G>A (p.Gly32798Glu) c.79478G>A (p.Gly26493Glu) c.79277G>A (p.Gly26426Glu) c.78902G>A (p.Gly26301Glu) c.106097G>A (p.Gly35366Glu) c.101174G>A (p.Gly33725Glu) n.446+6882C>T n.220-5214C>T c.105194G>A (p.Gly35065Glu) c.79088G>A (p.Gly26363Glu) c.78947G>A (p.Gly26316Glu) c.104990G>A (p.Gly34997Glu) c.100388G>A (p.Gly33463Glu) c.100385G>A (p.Gly33462Glu) c.97427G>A (p.Gly32476Glu) c.79043G>A (p.Gly26348Glu) c.100538G>A (p.Gly33513Glu) c.100535G>A (p.Gly33512Glu) c.99968G>A (p.Gly33323Glu) c.97310G>A (p.Gly32437Glu) c.97229G>A (p.Gly32410Glu) c.78992G>A (p.Gly26331Glu) c.68846G>A (p.Gly22949Glu) | gnomAD v4 |
2 | g.178530519C>A | CA349407041 | TTN,TTN-AS1 | c.98392G>T (p.Gly32798Ter) c.79477G>T (p.Gly26493Ter) c.79276G>T (p.Gly26426Ter) c.78901G>T (p.Gly26301Ter) c.106096G>T (p.Gly35366Ter) c.101173G>T (p.Gly33725Ter) n.446+6883C>A n.220-5213C>A c.105193G>T (p.Gly35065Ter) c.79087G>T (p.Gly26363Ter) c.78946G>T (p.Gly26316Ter) c.104989G>T (p.Gly34997Ter) c.100387G>T (p.Gly33463Ter) c.100384G>T (p.Gly33462Ter) c.97426G>T (p.Gly32476Ter) c.79042G>T (p.Gly26348Ter) c.100537G>T (p.Gly33513Ter) c.100534G>T (p.Gly33512Ter) c.99967G>T (p.Gly33323Ter) c.97309G>T (p.Gly32437Ter) c.97228G>T (p.Gly32410Ter) c.78991G>T (p.Gly26331Ter) c.68845G>T (p.Gly22949Ter) | |
2 | g.178530519C= | CA1310514711 | TTN,TTN-AS1 | c.98392G= (p.Gly32798=) c.79477G= (p.Gly26493=) c.79276G= (p.Gly26426=) c.78901G= (p.Gly26301=) c.106096G= (p.Gly35366=) c.101173G= (p.Gly33725=) n.446+6883C= n.220-5213C= c.105193G= (p.Gly35065=) c.79087G= (p.Gly26363=) c.78946G= (p.Gly26316=) c.104989G= (p.Gly34997=) c.100387G= (p.Gly33463=) c.100384G= (p.Gly33462=) c.97426G= (p.Gly32476=) c.79042G= (p.Gly26348=) c.100537G= (p.Gly33513=) c.100534G= (p.Gly33512=) c.99967G= (p.Gly33323=) c.97309G= (p.Gly32437=) c.97228G= (p.Gly32410=) c.78991G= (p.Gly26331=) c.68845G= (p.Gly22949=) | |
2 | g.178530519C>G | CA349407042 | TTN,TTN-AS1 | c.98392G>C (p.Gly32798Arg) c.79477G>C (p.Gly26493Arg) c.79276G>C (p.Gly26426Arg) c.78901G>C (p.Gly26301Arg) c.106096G>C (p.Gly35366Arg) c.101173G>C (p.Gly33725Arg) n.446+6883C>G n.220-5213C>G c.105193G>C (p.Gly35065Arg) c.79087G>C (p.Gly26363Arg) c.78946G>C (p.Gly26316Arg) c.104989G>C (p.Gly34997Arg) c.100387G>C (p.Gly33463Arg) c.100384G>C (p.Gly33462Arg) c.97426G>C (p.Gly32476Arg) c.79042G>C (p.Gly26348Arg) c.100537G>C (p.Gly33513Arg) c.100534G>C (p.Gly33512Arg) c.99967G>C (p.Gly33323Arg) c.97309G>C (p.Gly32437Arg) c.97228G>C (p.Gly32410Arg) c.78991G>C (p.Gly26331Arg) c.68845G>C (p.Gly22949Arg) | |
2 | g.178530519C>T | CA349407043 | TTN,TTN-AS1 | c.98392G>A (p.Gly32798Arg) c.79477G>A (p.Gly26493Arg) c.79276G>A (p.Gly26426Arg) c.78901G>A (p.Gly26301Arg) c.106096G>A (p.Gly35366Arg) c.101173G>A (p.Gly33725Arg) n.446+6883C>T n.220-5213C>T c.105193G>A (p.Gly35065Arg) c.79087G>A (p.Gly26363Arg) c.78946G>A (p.Gly26316Arg) c.104989G>A (p.Gly34997Arg) c.100387G>A (p.Gly33463Arg) c.100384G>A (p.Gly33462Arg) c.97426G>A (p.Gly32476Arg) c.79042G>A (p.Gly26348Arg) c.100537G>A (p.Gly33513Arg) c.100534G>A (p.Gly33512Arg) c.99967G>A (p.Gly33323Arg) c.97309G>A (p.Gly32437Arg) c.97228G>A (p.Gly32410Arg) c.78991G>A (p.Gly26331Arg) c.68845G>A (p.Gly22949Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530520A>C | CA430235133 | TTN,TTN-AS1 | c.98391T>G (p.Gly32797=) c.79476T>G (p.Gly26492=) c.79275T>G (p.Gly26425=) c.78900T>G (p.Gly26300=) c.106095T>G (p.Gly35365=) c.101172T>G (p.Gly33724=) n.446+6884A>C n.220-5212A>C c.105192T>G (p.Gly35064=) c.79086T>G (p.Gly26362=) c.78945T>G (p.Gly26315=) c.104988T>G (p.Gly34996=) c.100386T>G (p.Gly33462=) c.100383T>G (p.Gly33461=) c.97425T>G (p.Gly32475=) c.79041T>G (p.Gly26347=) c.100536T>G (p.Gly33512=) c.100533T>G (p.Gly33511=) c.99966T>G (p.Gly33322=) c.97308T>G (p.Gly32436=) c.97227T>G (p.Gly32409=) c.78990T>G (p.Gly26330=) c.68844T>G (p.Gly22948=) | |
2 | g.178530520A>G | CA430235134 | TTN,TTN-AS1 | c.98391T>C (p.Gly32797=) c.79476T>C (p.Gly26492=) c.79275T>C (p.Gly26425=) c.78900T>C (p.Gly26300=) c.106095T>C (p.Gly35365=) c.101172T>C (p.Gly33724=) n.446+6884A>G n.220-5212A>G c.105192T>C (p.Gly35064=) c.79086T>C (p.Gly26362=) c.78945T>C (p.Gly26315=) c.104988T>C (p.Gly34996=) c.100386T>C (p.Gly33462=) c.100383T>C (p.Gly33461=) c.97425T>C (p.Gly32475=) c.79041T>C (p.Gly26347=) c.100536T>C (p.Gly33512=) c.100533T>C (p.Gly33511=) c.99966T>C (p.Gly33322=) c.97308T>C (p.Gly32436=) c.97227T>C (p.Gly32409=) c.78990T>C (p.Gly26330=) c.68844T>C (p.Gly22948=) | gnomAD v4 |
2 | g.178530520A>T | CA430235135 | TTN,TTN-AS1 | c.98391T>A (p.Gly32797=) c.79476T>A (p.Gly26492=) c.79275T>A (p.Gly26425=) c.78900T>A (p.Gly26300=) c.106095T>A (p.Gly35365=) c.101172T>A (p.Gly33724=) n.446+6884A>T n.220-5212A>T c.105192T>A (p.Gly35064=) c.79086T>A (p.Gly26362=) c.78945T>A (p.Gly26315=) c.104988T>A (p.Gly34996=) c.100386T>A (p.Gly33462=) c.100383T>A (p.Gly33461=) c.97425T>A (p.Gly32475=) c.79041T>A (p.Gly26347=) c.100536T>A (p.Gly33512=) c.100533T>A (p.Gly33511=) c.99966T>A (p.Gly33322=) c.97308T>A (p.Gly32436=) c.97227T>A (p.Gly32409=) c.78990T>A (p.Gly26330=) c.68844T>A (p.Gly22948=) | |
2 | g.178530521C>A | CA349407044 | TTN,TTN-AS1 | c.98390G>T (p.Gly32797Val) c.79475G>T (p.Gly26492Val) c.79274G>T (p.Gly26425Val) c.78899G>T (p.Gly26300Val) c.106094G>T (p.Gly35365Val) c.101171G>T (p.Gly33724Val) n.446+6885C>A n.220-5211C>A c.105191G>T (p.Gly35064Val) c.79085G>T (p.Gly26362Val) c.78944G>T (p.Gly26315Val) c.104987G>T (p.Gly34996Val) c.100385G>T (p.Gly33462Val) c.100382G>T (p.Gly33461Val) c.97424G>T (p.Gly32475Val) c.79040G>T (p.Gly26347Val) c.100535G>T (p.Gly33512Val) c.100532G>T (p.Gly33511Val) c.99965G>T (p.Gly33322Val) c.97307G>T (p.Gly32436Val) c.97226G>T (p.Gly32409Val) c.78989G>T (p.Gly26330Val) c.68843G>T (p.Gly22948Val) | |
2 | g.178530521C= | CA1310514712 | TTN,TTN-AS1 | c.98390G= (p.Gly32797=) c.79475G= (p.Gly26492=) c.79274G= (p.Gly26425=) c.78899G= (p.Gly26300=) c.106094G= (p.Gly35365=) c.101171G= (p.Gly33724=) n.446+6885C= n.220-5211C= c.105191G= (p.Gly35064=) c.79085G= (p.Gly26362=) c.78944G= (p.Gly26315=) c.104987G= (p.Gly34996=) c.100385G= (p.Gly33462=) c.100382G= (p.Gly33461=) c.97424G= (p.Gly32475=) c.79040G= (p.Gly26347=) c.100535G= (p.Gly33512=) c.100532G= (p.Gly33511=) c.99965G= (p.Gly33322=) c.97307G= (p.Gly32436=) c.97226G= (p.Gly32409=) c.78989G= (p.Gly26330=) c.68843G= (p.Gly22948=) | |
2 | g.178530521C>G | CA349407045 | TTN,TTN-AS1 | c.98390G>C (p.Gly32797Ala) c.79475G>C (p.Gly26492Ala) c.79274G>C (p.Gly26425Ala) c.78899G>C (p.Gly26300Ala) c.106094G>C (p.Gly35365Ala) c.101171G>C (p.Gly33724Ala) n.446+6885C>G n.220-5211C>G c.105191G>C (p.Gly35064Ala) c.79085G>C (p.Gly26362Ala) c.78944G>C (p.Gly26315Ala) c.104987G>C (p.Gly34996Ala) c.100385G>C (p.Gly33462Ala) c.100382G>C (p.Gly33461Ala) c.97424G>C (p.Gly32475Ala) c.79040G>C (p.Gly26347Ala) c.100535G>C (p.Gly33512Ala) c.100532G>C (p.Gly33511Ala) c.99965G>C (p.Gly33322Ala) c.97307G>C (p.Gly32436Ala) c.97226G>C (p.Gly32409Ala) c.78989G>C (p.Gly26330Ala) c.68843G>C (p.Gly22948Ala) | gnomAD v4 |
2 | g.178530521C>T | CA1985166 | TTN,TTN-AS1 | c.98390G>A (p.Gly32797Asp) c.79475G>A (p.Gly26492Asp) c.79274G>A (p.Gly26425Asp) c.78899G>A (p.Gly26300Asp) c.106094G>A (p.Gly35365Asp) c.101171G>A (p.Gly33724Asp) n.446+6885C>T n.220-5211C>T c.105191G>A (p.Gly35064Asp) c.79085G>A (p.Gly26362Asp) c.78944G>A (p.Gly26315Asp) c.104987G>A (p.Gly34996Asp) c.100385G>A (p.Gly33462Asp) c.100382G>A (p.Gly33461Asp) c.97424G>A (p.Gly32475Asp) c.79040G>A (p.Gly26347Asp) c.100535G>A (p.Gly33512Asp) c.100532G>A (p.Gly33511Asp) c.99965G>A (p.Gly33322Asp) c.97307G>A (p.Gly32436Asp) c.97226G>A (p.Gly32409Asp) c.78989G>A (p.Gly26330Asp) c.68843G>A (p.Gly22948Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530522C>A | CA349407046 | TTN,TTN-AS1 | c.98389G>T (p.Gly32797Cys) c.79474G>T (p.Gly26492Cys) c.79273G>T (p.Gly26425Cys) c.78898G>T (p.Gly26300Cys) c.106093G>T (p.Gly35365Cys) c.101170G>T (p.Gly33724Cys) n.446+6886C>A n.220-5210C>A c.105190G>T (p.Gly35064Cys) c.79084G>T (p.Gly26362Cys) c.78943G>T (p.Gly26315Cys) c.104986G>T (p.Gly34996Cys) c.100384G>T (p.Gly33462Cys) c.100381G>T (p.Gly33461Cys) c.97423G>T (p.Gly32475Cys) c.79039G>T (p.Gly26347Cys) c.100534G>T (p.Gly33512Cys) c.100531G>T (p.Gly33511Cys) c.99964G>T (p.Gly33322Cys) c.97306G>T (p.Gly32436Cys) c.97225G>T (p.Gly32409Cys) c.78988G>T (p.Gly26330Cys) c.68842G>T (p.Gly22948Cys) | |
2 | g.178530522C= | CA1310514714 | TTN,TTN-AS1 | c.98389G= (p.Gly32797=) c.79474G= (p.Gly26492=) c.79273G= (p.Gly26425=) c.78898G= (p.Gly26300=) c.106093G= (p.Gly35365=) c.101170G= (p.Gly33724=) n.446+6886C= n.220-5210C= c.105190G= (p.Gly35064=) c.79084G= (p.Gly26362=) c.78943G= (p.Gly26315=) c.104986G= (p.Gly34996=) c.100384G= (p.Gly33462=) c.100381G= (p.Gly33461=) c.97423G= (p.Gly32475=) c.79039G= (p.Gly26347=) c.100534G= (p.Gly33512=) c.100531G= (p.Gly33511=) c.99964G= (p.Gly33322=) c.97306G= (p.Gly32436=) c.97225G= (p.Gly32409=) c.78988G= (p.Gly26330=) c.68842G= (p.Gly22948=) | |
2 | g.178530522C>G | CA349407048 | TTN,TTN-AS1 | c.98389G>C (p.Gly32797Arg) c.79474G>C (p.Gly26492Arg) c.79273G>C (p.Gly26425Arg) c.78898G>C (p.Gly26300Arg) c.106093G>C (p.Gly35365Arg) c.101170G>C (p.Gly33724Arg) n.446+6886C>G n.220-5210C>G c.105190G>C (p.Gly35064Arg) c.79084G>C (p.Gly26362Arg) c.78943G>C (p.Gly26315Arg) c.104986G>C (p.Gly34996Arg) c.100384G>C (p.Gly33462Arg) c.100381G>C (p.Gly33461Arg) c.97423G>C (p.Gly32475Arg) c.79039G>C (p.Gly26347Arg) c.100534G>C (p.Gly33512Arg) c.100531G>C (p.Gly33511Arg) c.99964G>C (p.Gly33322Arg) c.97306G>C (p.Gly32436Arg) c.97225G>C (p.Gly32409Arg) c.78988G>C (p.Gly26330Arg) c.68842G>C (p.Gly22948Arg) | dbSNP gnomAD v2 |
2 | g.178530522C>T | CA349407047 | TTN,TTN-AS1 | c.98389G>A (p.Gly32797Ser) c.79474G>A (p.Gly26492Ser) c.79273G>A (p.Gly26425Ser) c.78898G>A (p.Gly26300Ser) c.106093G>A (p.Gly35365Ser) c.101170G>A (p.Gly33724Ser) n.446+6886C>T n.220-5210C>T c.105190G>A (p.Gly35064Ser) c.79084G>A (p.Gly26362Ser) c.78943G>A (p.Gly26315Ser) c.104986G>A (p.Gly34996Ser) c.100384G>A (p.Gly33462Ser) c.100381G>A (p.Gly33461Ser) c.97423G>A (p.Gly32475Ser) c.79039G>A (p.Gly26347Ser) c.100534G>A (p.Gly33512Ser) c.100531G>A (p.Gly33511Ser) c.99964G>A (p.Gly33322Ser) c.97306G>A (p.Gly32436Ser) c.97225G>A (p.Gly32409Ser) c.78988G>A (p.Gly26330Ser) c.68842G>A (p.Gly22948Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530523T>A | CA349407049 | TTN,TTN-AS1 | c.98388A>T (p.Glu32796Asp) c.79473A>T (p.Glu26491Asp) c.79272A>T (p.Glu26424Asp) c.78897A>T (p.Glu26299Asp) c.106092A>T (p.Glu35364Asp) c.101169A>T (p.Glu33723Asp) n.446+6887T>A n.220-5209T>A c.105189A>T (p.Glu35063Asp) c.79083A>T (p.Glu26361Asp) c.78942A>T (p.Glu26314Asp) c.104985A>T (p.Glu34995Asp) c.100383A>T (p.Glu33461Asp) c.100380A>T (p.Glu33460Asp) c.97422A>T (p.Glu32474Asp) c.79038A>T (p.Glu26346Asp) c.100533A>T (p.Glu33511Asp) c.100530A>T (p.Glu33510Asp) c.99963A>T (p.Glu33321Asp) c.97305A>T (p.Glu32435Asp) c.97224A>T (p.Glu32408Asp) c.78987A>T (p.Glu26329Asp) c.68841A>T (p.Glu22947Asp) | |
2 | g.178530523T>C | CA430235141 | TTN,TTN-AS1 | c.98388A>G (p.Glu32796=) c.79473A>G (p.Glu26491=) c.79272A>G (p.Glu26424=) c.78897A>G (p.Glu26299=) c.106092A>G (p.Glu35364=) c.101169A>G (p.Glu33723=) n.446+6887T>C n.220-5209T>C c.105189A>G (p.Glu35063=) c.79083A>G (p.Glu26361=) c.78942A>G (p.Glu26314=) c.104985A>G (p.Glu34995=) c.100383A>G (p.Glu33461=) c.100380A>G (p.Glu33460=) c.97422A>G (p.Glu32474=) c.79038A>G (p.Glu26346=) c.100533A>G (p.Glu33511=) c.100530A>G (p.Glu33510=) c.99963A>G (p.Glu33321=) c.97305A>G (p.Glu32435=) c.97224A>G (p.Glu32408=) c.78987A>G (p.Glu26329=) c.68841A>G (p.Glu22947=) | |
2 | g.178530523T>G | CA349407050 | TTN,TTN-AS1 | c.98388A>C (p.Glu32796Asp) c.79473A>C (p.Glu26491Asp) c.79272A>C (p.Glu26424Asp) c.78897A>C (p.Glu26299Asp) c.106092A>C (p.Glu35364Asp) c.101169A>C (p.Glu33723Asp) n.446+6887T>G n.220-5209T>G c.105189A>C (p.Glu35063Asp) c.79083A>C (p.Glu26361Asp) c.78942A>C (p.Glu26314Asp) c.104985A>C (p.Glu34995Asp) c.100383A>C (p.Glu33461Asp) c.100380A>C (p.Glu33460Asp) c.97422A>C (p.Glu32474Asp) c.79038A>C (p.Glu26346Asp) c.100533A>C (p.Glu33511Asp) c.100530A>C (p.Glu33510Asp) c.99963A>C (p.Glu33321Asp) c.97305A>C (p.Glu32435Asp) c.97224A>C (p.Glu32408Asp) c.78987A>C (p.Glu26329Asp) c.68841A>C (p.Glu22947Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530523T= | CA1310514717 | TTN,TTN-AS1 | c.98388A= (p.Glu32796=) c.79473A= (p.Glu26491=) c.79272A= (p.Glu26424=) c.78897A= (p.Glu26299=) c.106092A= (p.Glu35364=) c.101169A= (p.Glu33723=) n.446+6887T= n.220-5209T= c.105189A= (p.Glu35063=) c.79083A= (p.Glu26361=) c.78942A= (p.Glu26314=) c.104985A= (p.Glu34995=) c.100383A= (p.Glu33461=) c.100380A= (p.Glu33460=) c.97422A= (p.Glu32474=) c.79038A= (p.Glu26346=) c.100533A= (p.Glu33511=) c.100530A= (p.Glu33510=) c.99963A= (p.Glu33321=) c.97305A= (p.Glu32435=) c.97224A= (p.Glu32408=) c.78987A= (p.Glu26329=) c.68841A= (p.Glu22947=) | |
2 | g.178530524T>A | CA349407051 | TTN,TTN-AS1 | c.98387A>T (p.Glu32796Val) c.79472A>T (p.Glu26491Val) c.79271A>T (p.Glu26424Val) c.78896A>T (p.Glu26299Val) c.106091A>T (p.Glu35364Val) c.101168A>T (p.Glu33723Val) n.446+6888T>A n.220-5208T>A c.105188A>T (p.Glu35063Val) c.79082A>T (p.Glu26361Val) c.78941A>T (p.Glu26314Val) c.104984A>T (p.Glu34995Val) c.100382A>T (p.Glu33461Val) c.100379A>T (p.Glu33460Val) c.97421A>T (p.Glu32474Val) c.79037A>T (p.Glu26346Val) c.100532A>T (p.Glu33511Val) c.100529A>T (p.Glu33510Val) c.99962A>T (p.Glu33321Val) c.97304A>T (p.Glu32435Val) c.97223A>T (p.Glu32408Val) c.78986A>T (p.Glu26329Val) c.68840A>T (p.Glu22947Val) | |
2 | g.178530524T>C | CA349407052 | TTN,TTN-AS1 | c.98387A>G (p.Glu32796Gly) c.79472A>G (p.Glu26491Gly) c.79271A>G (p.Glu26424Gly) c.78896A>G (p.Glu26299Gly) c.106091A>G (p.Glu35364Gly) c.101168A>G (p.Glu33723Gly) n.446+6888T>C n.220-5208T>C c.105188A>G (p.Glu35063Gly) c.79082A>G (p.Glu26361Gly) c.78941A>G (p.Glu26314Gly) c.104984A>G (p.Glu34995Gly) c.100382A>G (p.Glu33461Gly) c.100379A>G (p.Glu33460Gly) c.97421A>G (p.Glu32474Gly) c.79037A>G (p.Glu26346Gly) c.100532A>G (p.Glu33511Gly) c.100529A>G (p.Glu33510Gly) c.99962A>G (p.Glu33321Gly) c.97304A>G (p.Glu32435Gly) c.97223A>G (p.Glu32408Gly) c.78986A>G (p.Glu26329Gly) c.68840A>G (p.Glu22947Gly) | ClinVar dbSNP |
2 | g.178530524T>G | CA349407053 | TTN,TTN-AS1 | c.98387A>C (p.Glu32796Ala) c.79472A>C (p.Glu26491Ala) c.79271A>C (p.Glu26424Ala) c.78896A>C (p.Glu26299Ala) c.106091A>C (p.Glu35364Ala) c.101168A>C (p.Glu33723Ala) n.446+6888T>G n.220-5208T>G c.105188A>C (p.Glu35063Ala) c.79082A>C (p.Glu26361Ala) c.78941A>C (p.Glu26314Ala) c.104984A>C (p.Glu34995Ala) c.100382A>C (p.Glu33461Ala) c.100379A>C (p.Glu33460Ala) c.97421A>C (p.Glu32474Ala) c.79037A>C (p.Glu26346Ala) c.100532A>C (p.Glu33511Ala) c.100529A>C (p.Glu33510Ala) c.99962A>C (p.Glu33321Ala) c.97304A>C (p.Glu32435Ala) c.97223A>C (p.Glu32408Ala) c.78986A>C (p.Glu26329Ala) c.68840A>C (p.Glu22947Ala) | |
2 | g.178530524T= | CA1310514718 | TTN,TTN-AS1 | c.98387A= (p.Glu32796=) c.79472A= (p.Glu26491=) c.79271A= (p.Glu26424=) c.78896A= (p.Glu26299=) c.106091A= (p.Glu35364=) c.101168A= (p.Glu33723=) n.446+6888T= n.220-5208T= c.105188A= (p.Glu35063=) c.79082A= (p.Glu26361=) c.78941A= (p.Glu26314=) c.104984A= (p.Glu34995=) c.100382A= (p.Glu33461=) c.100379A= (p.Glu33460=) c.97421A= (p.Glu32474=) c.79037A= (p.Glu26346=) c.100532A= (p.Glu33511=) c.100529A= (p.Glu33510=) c.99962A= (p.Glu33321=) c.97304A= (p.Glu32435=) c.97223A= (p.Glu32408=) c.78986A= (p.Glu26329=) c.68840A= (p.Glu22947=) | |
2 | g.178530525C>A | CA349407054 | TTN,TTN-AS1 | c.98386G>T (p.Glu32796Ter) c.79471G>T (p.Glu26491Ter) c.79270G>T (p.Glu26424Ter) c.78895G>T (p.Glu26299Ter) c.106090G>T (p.Glu35364Ter) c.101167G>T (p.Glu33723Ter) n.446+6889C>A n.220-5207C>A c.105187G>T (p.Glu35063Ter) c.79081G>T (p.Glu26361Ter) c.78940G>T (p.Glu26314Ter) c.104983G>T (p.Glu34995Ter) c.100381G>T (p.Glu33461Ter) c.100378G>T (p.Glu33460Ter) c.97420G>T (p.Glu32474Ter) c.79036G>T (p.Glu26346Ter) c.100531G>T (p.Glu33511Ter) c.100528G>T (p.Glu33510Ter) c.99961G>T (p.Glu33321Ter) c.97303G>T (p.Glu32435Ter) c.97222G>T (p.Glu32408Ter) c.78985G>T (p.Glu26329Ter) c.68839G>T (p.Glu22947Ter) | |
2 | g.178530525C>G | CA349407055 | TTN,TTN-AS1 | c.98386G>C (p.Glu32796Gln) c.79471G>C (p.Glu26491Gln) c.79270G>C (p.Glu26424Gln) c.78895G>C (p.Glu26299Gln) c.106090G>C (p.Glu35364Gln) c.101167G>C (p.Glu33723Gln) n.446+6889C>G n.220-5207C>G c.105187G>C (p.Glu35063Gln) c.79081G>C (p.Glu26361Gln) c.78940G>C (p.Glu26314Gln) c.104983G>C (p.Glu34995Gln) c.100381G>C (p.Glu33461Gln) c.100378G>C (p.Glu33460Gln) c.97420G>C (p.Glu32474Gln) c.79036G>C (p.Glu26346Gln) c.100531G>C (p.Glu33511Gln) c.100528G>C (p.Glu33510Gln) c.99961G>C (p.Glu33321Gln) c.97303G>C (p.Glu32435Gln) c.97222G>C (p.Glu32408Gln) c.78985G>C (p.Glu26329Gln) c.68839G>C (p.Glu22947Gln) | |
2 | g.178530525C>T | CA349407056 | TTN,TTN-AS1 | c.98386G>A (p.Glu32796Lys) c.79471G>A (p.Glu26491Lys) c.79270G>A (p.Glu26424Lys) c.78895G>A (p.Glu26299Lys) c.106090G>A (p.Glu35364Lys) c.101167G>A (p.Glu33723Lys) n.446+6889C>T n.220-5207C>T c.105187G>A (p.Glu35063Lys) c.79081G>A (p.Glu26361Lys) c.78940G>A (p.Glu26314Lys) c.104983G>A (p.Glu34995Lys) c.100381G>A (p.Glu33461Lys) c.100378G>A (p.Glu33460Lys) c.97420G>A (p.Glu32474Lys) c.79036G>A (p.Glu26346Lys) c.100531G>A (p.Glu33511Lys) c.100528G>A (p.Glu33510Lys) c.99961G>A (p.Glu33321Lys) c.97303G>A (p.Glu32435Lys) c.97222G>A (p.Glu32408Lys) c.78985G>A (p.Glu26329Lys) c.68839G>A (p.Glu22947Lys) | gnomAD v4 |
2 | g.178530526A>C | CA430235146 | TTN,TTN-AS1 | c.98385T>G (p.Gly32795=) c.79470T>G (p.Gly26490=) c.79269T>G (p.Gly26423=) c.78894T>G (p.Gly26298=) c.106089T>G (p.Gly35363=) c.101166T>G (p.Gly33722=) n.446+6890A>C n.220-5206A>C c.105186T>G (p.Gly35062=) c.79080T>G (p.Gly26360=) c.78939T>G (p.Gly26313=) c.104982T>G (p.Gly34994=) c.100380T>G (p.Gly33460=) c.100377T>G (p.Gly33459=) c.97419T>G (p.Gly32473=) c.79035T>G (p.Gly26345=) c.100530T>G (p.Gly33510=) c.100527T>G (p.Gly33509=) c.99960T>G (p.Gly33320=) c.97302T>G (p.Gly32434=) c.97221T>G (p.Gly32407=) c.78984T>G (p.Gly26328=) c.68838T>G (p.Gly22946=) | |
2 | g.178530526A>G | CA430235147 | TTN,TTN-AS1 | c.98385T>C (p.Gly32795=) c.79470T>C (p.Gly26490=) c.79269T>C (p.Gly26423=) c.78894T>C (p.Gly26298=) c.106089T>C (p.Gly35363=) c.101166T>C (p.Gly33722=) n.446+6890A>G n.220-5206A>G c.105186T>C (p.Gly35062=) c.79080T>C (p.Gly26360=) c.78939T>C (p.Gly26313=) c.104982T>C (p.Gly34994=) c.100380T>C (p.Gly33460=) c.100377T>C (p.Gly33459=) c.97419T>C (p.Gly32473=) c.79035T>C (p.Gly26345=) c.100530T>C (p.Gly33510=) c.100527T>C (p.Gly33509=) c.99960T>C (p.Gly33320=) c.97302T>C (p.Gly32434=) c.97221T>C (p.Gly32407=) c.78984T>C (p.Gly26328=) c.68838T>C (p.Gly22946=) | |
2 | g.178530526A>T | CA430235148 | TTN,TTN-AS1 | c.98385T>A (p.Gly32795=) c.79470T>A (p.Gly26490=) c.79269T>A (p.Gly26423=) c.78894T>A (p.Gly26298=) c.106089T>A (p.Gly35363=) c.101166T>A (p.Gly33722=) n.446+6890A>T n.220-5206A>T c.105186T>A (p.Gly35062=) c.79080T>A (p.Gly26360=) c.78939T>A (p.Gly26313=) c.104982T>A (p.Gly34994=) c.100380T>A (p.Gly33460=) c.100377T>A (p.Gly33459=) c.97419T>A (p.Gly32473=) c.79035T>A (p.Gly26345=) c.100530T>A (p.Gly33510=) c.100527T>A (p.Gly33509=) c.99960T>A (p.Gly33320=) c.97302T>A (p.Gly32434=) c.97221T>A (p.Gly32407=) c.78984T>A (p.Gly26328=) c.68838T>A (p.Gly22946=) | dbSNP |
2 | g.178530527C>A | CA349407057 | TTN,TTN-AS1 | c.98384G>T (p.Gly32795Val) c.79469G>T (p.Gly26490Val) c.79268G>T (p.Gly26423Val) c.78893G>T (p.Gly26298Val) c.106088G>T (p.Gly35363Val) c.101165G>T (p.Gly33722Val) n.446+6891C>A n.220-5205C>A c.105185G>T (p.Gly35062Val) c.79079G>T (p.Gly26360Val) c.78938G>T (p.Gly26313Val) c.104981G>T (p.Gly34994Val) c.100379G>T (p.Gly33460Val) c.100376G>T (p.Gly33459Val) c.97418G>T (p.Gly32473Val) c.79034G>T (p.Gly26345Val) c.100529G>T (p.Gly33510Val) c.100526G>T (p.Gly33509Val) c.99959G>T (p.Gly33320Val) c.97301G>T (p.Gly32434Val) c.97220G>T (p.Gly32407Val) c.78983G>T (p.Gly26328Val) c.68837G>T (p.Gly22946Val) | |
2 | g.178530527C>G | CA349407058 | TTN,TTN-AS1 | c.98384G>C (p.Gly32795Ala) c.79469G>C (p.Gly26490Ala) c.79268G>C (p.Gly26423Ala) c.78893G>C (p.Gly26298Ala) c.106088G>C (p.Gly35363Ala) c.101165G>C (p.Gly33722Ala) n.446+6891C>G n.220-5205C>G c.105185G>C (p.Gly35062Ala) c.79079G>C (p.Gly26360Ala) c.78938G>C (p.Gly26313Ala) c.104981G>C (p.Gly34994Ala) c.100379G>C (p.Gly33460Ala) c.100376G>C (p.Gly33459Ala) c.97418G>C (p.Gly32473Ala) c.79034G>C (p.Gly26345Ala) c.100529G>C (p.Gly33510Ala) c.100526G>C (p.Gly33509Ala) c.99959G>C (p.Gly33320Ala) c.97301G>C (p.Gly32434Ala) c.97220G>C (p.Gly32407Ala) c.78983G>C (p.Gly26328Ala) c.68837G>C (p.Gly22946Ala) | |
2 | g.178530527C>T | CA349407059 | TTN,TTN-AS1 | c.98384G>A (p.Gly32795Asp) c.79469G>A (p.Gly26490Asp) c.79268G>A (p.Gly26423Asp) c.78893G>A (p.Gly26298Asp) c.106088G>A (p.Gly35363Asp) c.101165G>A (p.Gly33722Asp) n.446+6891C>T n.220-5205C>T c.105185G>A (p.Gly35062Asp) c.79079G>A (p.Gly26360Asp) c.78938G>A (p.Gly26313Asp) c.104981G>A (p.Gly34994Asp) c.100379G>A (p.Gly33460Asp) c.100376G>A (p.Gly33459Asp) c.97418G>A (p.Gly32473Asp) c.79034G>A (p.Gly26345Asp) c.100529G>A (p.Gly33510Asp) c.100526G>A (p.Gly33509Asp) c.99959G>A (p.Gly33320Asp) c.97301G>A (p.Gly32434Asp) c.97220G>A (p.Gly32407Asp) c.78983G>A (p.Gly26328Asp) c.68837G>A (p.Gly22946Asp) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530528C>A | CA349407062 | TTN,TTN-AS1 | c.98383G>T (p.Gly32795Cys) c.79468G>T (p.Gly26490Cys) c.79267G>T (p.Gly26423Cys) c.78892G>T (p.Gly26298Cys) c.106087G>T (p.Gly35363Cys) c.101164G>T (p.Gly33722Cys) n.446+6892C>A n.220-5204C>A c.105184G>T (p.Gly35062Cys) c.79078G>T (p.Gly26360Cys) c.78937G>T (p.Gly26313Cys) c.104980G>T (p.Gly34994Cys) c.100378G>T (p.Gly33460Cys) c.100375G>T (p.Gly33459Cys) c.97417G>T (p.Gly32473Cys) c.79033G>T (p.Gly26345Cys) c.100528G>T (p.Gly33510Cys) c.100525G>T (p.Gly33509Cys) c.99958G>T (p.Gly33320Cys) c.97300G>T (p.Gly32434Cys) c.97219G>T (p.Gly32407Cys) c.78982G>T (p.Gly26328Cys) c.68836G>T (p.Gly22946Cys) | |
2 | g.178530528C= | CA1310514720 | TTN,TTN-AS1 | c.98383G= (p.Gly32795=) c.79468G= (p.Gly26490=) c.79267G= (p.Gly26423=) c.78892G= (p.Gly26298=) c.106087G= (p.Gly35363=) c.101164G= (p.Gly33722=) n.446+6892C= n.220-5204C= c.105184G= (p.Gly35062=) c.79078G= (p.Gly26360=) c.78937G= (p.Gly26313=) c.104980G= (p.Gly34994=) c.100378G= (p.Gly33460=) c.100375G= (p.Gly33459=) c.97417G= (p.Gly32473=) c.79033G= (p.Gly26345=) c.100528G= (p.Gly33510=) c.100525G= (p.Gly33509=) c.99958G= (p.Gly33320=) c.97300G= (p.Gly32434=) c.97219G= (p.Gly32407=) c.78982G= (p.Gly26328=) c.68836G= (p.Gly22946=) | |
2 | g.178530528C>G | CA349407060 | TTN,TTN-AS1 | c.98383G>C (p.Gly32795Arg) c.79468G>C (p.Gly26490Arg) c.79267G>C (p.Gly26423Arg) c.78892G>C (p.Gly26298Arg) c.106087G>C (p.Gly35363Arg) c.101164G>C (p.Gly33722Arg) n.446+6892C>G n.220-5204C>G c.105184G>C (p.Gly35062Arg) c.79078G>C (p.Gly26360Arg) c.78937G>C (p.Gly26313Arg) c.104980G>C (p.Gly34994Arg) c.100378G>C (p.Gly33460Arg) c.100375G>C (p.Gly33459Arg) c.97417G>C (p.Gly32473Arg) c.79033G>C (p.Gly26345Arg) c.100528G>C (p.Gly33510Arg) c.100525G>C (p.Gly33509Arg) c.99958G>C (p.Gly33320Arg) c.97300G>C (p.Gly32434Arg) c.97219G>C (p.Gly32407Arg) c.78982G>C (p.Gly26328Arg) c.68836G>C (p.Gly22946Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530528C>T | CA349407061 | TTN,TTN-AS1 | c.98383G>A (p.Gly32795Ser) c.79468G>A (p.Gly26490Ser) c.79267G>A (p.Gly26423Ser) c.78892G>A (p.Gly26298Ser) c.106087G>A (p.Gly35363Ser) c.101164G>A (p.Gly33722Ser) n.446+6892C>T n.220-5204C>T c.105184G>A (p.Gly35062Ser) c.79078G>A (p.Gly26360Ser) c.78937G>A (p.Gly26313Ser) c.104980G>A (p.Gly34994Ser) c.100378G>A (p.Gly33460Ser) c.100375G>A (p.Gly33459Ser) c.97417G>A (p.Gly32473Ser) c.79033G>A (p.Gly26345Ser) c.100528G>A (p.Gly33510Ser) c.100525G>A (p.Gly33509Ser) c.99958G>A (p.Gly33320Ser) c.97300G>A (p.Gly32434Ser) c.97219G>A (p.Gly32407Ser) c.78982G>A (p.Gly26328Ser) c.68836G>A (p.Gly22946Ser) | ClinVar |
2 | g.178530529A>C | CA430235152 | TTN,TTN-AS1 | c.98382T>G (p.Ser32794=) c.79467T>G (p.Ser26489=) c.79266T>G (p.Ser26422=) c.78891T>G (p.Ser26297=) c.106086T>G (p.Ser35362=) c.101163T>G (p.Ser33721=) n.446+6893A>C n.220-5203A>C c.105183T>G (p.Ser35061=) c.79077T>G (p.Ser26359=) c.78936T>G (p.Ser26312=) c.104979T>G (p.Ser34993=) c.100377T>G (p.Ser33459=) c.100374T>G (p.Ser33458=) c.97416T>G (p.Ser32472=) c.79032T>G (p.Ser26344=) c.100527T>G (p.Ser33509=) c.100524T>G (p.Ser33508=) c.99957T>G (p.Ser33319=) c.97299T>G (p.Ser32433=) c.97218T>G (p.Ser32406=) c.78981T>G (p.Ser26327=) c.68835T>G (p.Ser22945=) | |
2 | g.178530529A>G | CA430235154 | TTN,TTN-AS1 | c.98382T>C (p.Ser32794=) c.79467T>C (p.Ser26489=) c.79266T>C (p.Ser26422=) c.78891T>C (p.Ser26297=) c.106086T>C (p.Ser35362=) c.101163T>C (p.Ser33721=) n.446+6893A>G n.220-5203A>G c.105183T>C (p.Ser35061=) c.79077T>C (p.Ser26359=) c.78936T>C (p.Ser26312=) c.104979T>C (p.Ser34993=) c.100377T>C (p.Ser33459=) c.100374T>C (p.Ser33458=) c.97416T>C (p.Ser32472=) c.79032T>C (p.Ser26344=) c.100527T>C (p.Ser33509=) c.100524T>C (p.Ser33508=) c.99957T>C (p.Ser33319=) c.97299T>C (p.Ser32433=) c.97218T>C (p.Ser32406=) c.78981T>C (p.Ser26327=) c.68835T>C (p.Ser22945=) | ClinVar |
2 | g.178530529A>T | CA430235155 | TTN,TTN-AS1 | c.98382T>A (p.Ser32794=) c.79467T>A (p.Ser26489=) c.79266T>A (p.Ser26422=) c.78891T>A (p.Ser26297=) c.106086T>A (p.Ser35362=) c.101163T>A (p.Ser33721=) n.446+6893A>T n.220-5203A>T c.105183T>A (p.Ser35061=) c.79077T>A (p.Ser26359=) c.78936T>A (p.Ser26312=) c.104979T>A (p.Ser34993=) c.100377T>A (p.Ser33459=) c.100374T>A (p.Ser33458=) c.97416T>A (p.Ser32472=) c.79032T>A (p.Ser26344=) c.100527T>A (p.Ser33509=) c.100524T>A (p.Ser33508=) c.99957T>A (p.Ser33319=) c.97299T>A (p.Ser32433=) c.97218T>A (p.Ser32406=) c.78981T>A (p.Ser26327=) c.68835T>A (p.Ser22945=) | |
2 | g.178530530G>A | CA349407063 | TTN,TTN-AS1 | c.98381C>T (p.Ser32794Phe) c.79466C>T (p.Ser26489Phe) c.79265C>T (p.Ser26422Phe) c.78890C>T (p.Ser26297Phe) c.106085C>T (p.Ser35362Phe) c.101162C>T (p.Ser33721Phe) n.446+6894G>A n.220-5202G>A c.105182C>T (p.Ser35061Phe) c.79076C>T (p.Ser26359Phe) c.78935C>T (p.Ser26312Phe) c.104978C>T (p.Ser34993Phe) c.100376C>T (p.Ser33459Phe) c.100373C>T (p.Ser33458Phe) c.97415C>T (p.Ser32472Phe) c.79031C>T (p.Ser26344Phe) c.100526C>T (p.Ser33509Phe) c.100523C>T (p.Ser33508Phe) c.99956C>T (p.Ser33319Phe) c.97298C>T (p.Ser32433Phe) c.97217C>T (p.Ser32406Phe) c.78980C>T (p.Ser26327Phe) c.68834C>T (p.Ser22945Phe) | |
2 | g.178530530G>C | CA349407064 | TTN,TTN-AS1 | c.98381C>G (p.Ser32794Cys) c.79466C>G (p.Ser26489Cys) c.79265C>G (p.Ser26422Cys) c.78890C>G (p.Ser26297Cys) c.106085C>G (p.Ser35362Cys) c.101162C>G (p.Ser33721Cys) n.446+6894G>C n.220-5202G>C c.105182C>G (p.Ser35061Cys) c.79076C>G (p.Ser26359Cys) c.78935C>G (p.Ser26312Cys) c.104978C>G (p.Ser34993Cys) c.100376C>G (p.Ser33459Cys) c.100373C>G (p.Ser33458Cys) c.97415C>G (p.Ser32472Cys) c.79031C>G (p.Ser26344Cys) c.100526C>G (p.Ser33509Cys) c.100523C>G (p.Ser33508Cys) c.99956C>G (p.Ser33319Cys) c.97298C>G (p.Ser32433Cys) c.97217C>G (p.Ser32406Cys) c.78980C>G (p.Ser26327Cys) c.68834C>G (p.Ser22945Cys) | |
2 | g.178530530G>T | CA349407065 | TTN,TTN-AS1 | c.98381C>A (p.Ser32794Tyr) c.79466C>A (p.Ser26489Tyr) c.79265C>A (p.Ser26422Tyr) c.78890C>A (p.Ser26297Tyr) c.106085C>A (p.Ser35362Tyr) c.101162C>A (p.Ser33721Tyr) n.446+6894G>T n.220-5202G>T c.105182C>A (p.Ser35061Tyr) c.79076C>A (p.Ser26359Tyr) c.78935C>A (p.Ser26312Tyr) c.104978C>A (p.Ser34993Tyr) c.100376C>A (p.Ser33459Tyr) c.100373C>A (p.Ser33458Tyr) c.97415C>A (p.Ser32472Tyr) c.79031C>A (p.Ser26344Tyr) c.100526C>A (p.Ser33509Tyr) c.100523C>A (p.Ser33508Tyr) c.99956C>A (p.Ser33319Tyr) c.97298C>A (p.Ser32433Tyr) c.97217C>A (p.Ser32406Tyr) c.78980C>A (p.Ser26327Tyr) c.68834C>A (p.Ser22945Tyr) | |
2 | g.178530531A>C | CA349407066 | TTN,TTN-AS1 | c.98380T>G (p.Ser32794Ala) c.79465T>G (p.Ser26489Ala) c.79264T>G (p.Ser26422Ala) c.78889T>G (p.Ser26297Ala) c.106084T>G (p.Ser35362Ala) c.101161T>G (p.Ser33721Ala) n.446+6895A>C n.220-5201A>C c.105181T>G (p.Ser35061Ala) c.79075T>G (p.Ser26359Ala) c.78934T>G (p.Ser26312Ala) c.104977T>G (p.Ser34993Ala) c.100375T>G (p.Ser33459Ala) c.100372T>G (p.Ser33458Ala) c.97414T>G (p.Ser32472Ala) c.79030T>G (p.Ser26344Ala) c.100525T>G (p.Ser33509Ala) c.100522T>G (p.Ser33508Ala) c.99955T>G (p.Ser33319Ala) c.97297T>G (p.Ser32433Ala) c.97216T>G (p.Ser32406Ala) c.78979T>G (p.Ser26327Ala) c.68833T>G (p.Ser22945Ala) | |
2 | g.178530531A>G | CA349407067 | TTN,TTN-AS1 | c.98380T>C (p.Ser32794Pro) c.79465T>C (p.Ser26489Pro) c.79264T>C (p.Ser26422Pro) c.78889T>C (p.Ser26297Pro) c.106084T>C (p.Ser35362Pro) c.101161T>C (p.Ser33721Pro) n.446+6895A>G n.220-5201A>G c.105181T>C (p.Ser35061Pro) c.79075T>C (p.Ser26359Pro) c.78934T>C (p.Ser26312Pro) c.104977T>C (p.Ser34993Pro) c.100375T>C (p.Ser33459Pro) c.100372T>C (p.Ser33458Pro) c.97414T>C (p.Ser32472Pro) c.79030T>C (p.Ser26344Pro) c.100525T>C (p.Ser33509Pro) c.100522T>C (p.Ser33508Pro) c.99955T>C (p.Ser33319Pro) c.97297T>C (p.Ser32433Pro) c.97216T>C (p.Ser32406Pro) c.78979T>C (p.Ser26327Pro) c.68833T>C (p.Ser22945Pro) | |
2 | g.178530531A>T | CA349407068 | TTN,TTN-AS1 | c.98380T>A (p.Ser32794Thr) c.79465T>A (p.Ser26489Thr) c.79264T>A (p.Ser26422Thr) c.78889T>A (p.Ser26297Thr) c.106084T>A (p.Ser35362Thr) c.101161T>A (p.Ser33721Thr) n.446+6895A>T n.220-5201A>T c.105181T>A (p.Ser35061Thr) c.79075T>A (p.Ser26359Thr) c.78934T>A (p.Ser26312Thr) c.104977T>A (p.Ser34993Thr) c.100375T>A (p.Ser33459Thr) c.100372T>A (p.Ser33458Thr) c.97414T>A (p.Ser32472Thr) c.79030T>A (p.Ser26344Thr) c.100525T>A (p.Ser33509Thr) c.100522T>A (p.Ser33508Thr) c.99955T>A (p.Ser33319Thr) c.97297T>A (p.Ser32433Thr) c.97216T>A (p.Ser32406Thr) c.78979T>A (p.Ser26327Thr) c.68833T>A (p.Ser22945Thr) | |
2 | g.178530532A= | CA1310514721 | TTN,TTN-AS1 | c.98379T= (p.Ile32793=) c.79464T= (p.Ile26488=) c.79263T= (p.Ile26421=) c.78888T= (p.Ile26296=) c.106083T= (p.Ile35361=) c.101160T= (p.Ile33720=) n.446+6896A= n.220-5200A= c.105180T= (p.Ile35060=) c.79074T= (p.Ile26358=) c.78933T= (p.Ile26311=) c.104976T= (p.Ile34992=) c.100374T= (p.Ile33458=) c.100371T= (p.Ile33457=) c.97413T= (p.Ile32471=) c.79029T= (p.Ile26343=) c.100524T= (p.Ile33508=) c.100521T= (p.Ile33507=) c.99954T= (p.Ile33318=) c.97296T= (p.Ile32432=) c.97215T= (p.Ile32405=) c.78978T= (p.Ile26326=) c.68832T= (p.Ile22944=) | |
2 | g.178530532A>C | CA349407069 | TTN,TTN-AS1 | c.98379T>G (p.Ile32793Met) c.79464T>G (p.Ile26488Met) c.79263T>G (p.Ile26421Met) c.78888T>G (p.Ile26296Met) c.106083T>G (p.Ile35361Met) c.101160T>G (p.Ile33720Met) n.446+6896A>C n.220-5200A>C c.105180T>G (p.Ile35060Met) c.79074T>G (p.Ile26358Met) c.78933T>G (p.Ile26311Met) c.104976T>G (p.Ile34992Met) c.100374T>G (p.Ile33458Met) c.100371T>G (p.Ile33457Met) c.97413T>G (p.Ile32471Met) c.79029T>G (p.Ile26343Met) c.100524T>G (p.Ile33508Met) c.100521T>G (p.Ile33507Met) c.99954T>G (p.Ile33318Met) c.97296T>G (p.Ile32432Met) c.97215T>G (p.Ile32405Met) c.78978T>G (p.Ile26326Met) c.68832T>G (p.Ile22944Met) | |
2 | g.178530532A>G | CA430235159 | TTN,TTN-AS1 | c.98379T>C (p.Ile32793=) c.79464T>C (p.Ile26488=) c.79263T>C (p.Ile26421=) c.78888T>C (p.Ile26296=) c.106083T>C (p.Ile35361=) c.101160T>C (p.Ile33720=) n.446+6896A>G n.220-5200A>G c.105180T>C (p.Ile35060=) c.79074T>C (p.Ile26358=) c.78933T>C (p.Ile26311=) c.104976T>C (p.Ile34992=) c.100374T>C (p.Ile33458=) c.100371T>C (p.Ile33457=) c.97413T>C (p.Ile32471=) c.79029T>C (p.Ile26343=) c.100524T>C (p.Ile33508=) c.100521T>C (p.Ile33507=) c.99954T>C (p.Ile33318=) c.97296T>C (p.Ile32432=) c.97215T>C (p.Ile32405=) c.78978T>C (p.Ile26326=) c.68832T>C (p.Ile22944=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530532A>T | CA430235160 | TTN,TTN-AS1 | c.98379T>A (p.Ile32793=) c.79464T>A (p.Ile26488=) c.79263T>A (p.Ile26421=) c.78888T>A (p.Ile26296=) c.106083T>A (p.Ile35361=) c.101160T>A (p.Ile33720=) n.446+6896A>T n.220-5200A>T c.105180T>A (p.Ile35060=) c.79074T>A (p.Ile26358=) c.78933T>A (p.Ile26311=) c.104976T>A (p.Ile34992=) c.100374T>A (p.Ile33458=) c.100371T>A (p.Ile33457=) c.97413T>A (p.Ile32471=) c.79029T>A (p.Ile26343=) c.100524T>A (p.Ile33508=) c.100521T>A (p.Ile33507=) c.99954T>A (p.Ile33318=) c.97296T>A (p.Ile32432=) c.97215T>A (p.Ile32405=) c.78978T>A (p.Ile26326=) c.68832T>A (p.Ile22944=) | |
2 | g.178530533A>C | CA349407070 | TTN,TTN-AS1 | c.98378T>G (p.Ile32793Ser) c.79463T>G (p.Ile26488Ser) c.79262T>G (p.Ile26421Ser) c.78887T>G (p.Ile26296Ser) c.106082T>G (p.Ile35361Ser) c.101159T>G (p.Ile33720Ser) n.446+6897A>C n.220-5199A>C c.105179T>G (p.Ile35060Ser) c.79073T>G (p.Ile26358Ser) c.78932T>G (p.Ile26311Ser) c.104975T>G (p.Ile34992Ser) c.100373T>G (p.Ile33458Ser) c.100370T>G (p.Ile33457Ser) c.97412T>G (p.Ile32471Ser) c.79028T>G (p.Ile26343Ser) c.100523T>G (p.Ile33508Ser) c.100520T>G (p.Ile33507Ser) c.99953T>G (p.Ile33318Ser) c.97295T>G (p.Ile32432Ser) c.97214T>G (p.Ile32405Ser) c.78977T>G (p.Ile26326Ser) c.68831T>G (p.Ile22944Ser) | |
2 | g.178530533A>G | CA349407071 | TTN,TTN-AS1 | c.98378T>C (p.Ile32793Thr) c.79463T>C (p.Ile26488Thr) c.79262T>C (p.Ile26421Thr) c.78887T>C (p.Ile26296Thr) c.106082T>C (p.Ile35361Thr) c.101159T>C (p.Ile33720Thr) n.446+6897A>G n.220-5199A>G c.105179T>C (p.Ile35060Thr) c.79073T>C (p.Ile26358Thr) c.78932T>C (p.Ile26311Thr) c.104975T>C (p.Ile34992Thr) c.100373T>C (p.Ile33458Thr) c.100370T>C (p.Ile33457Thr) c.97412T>C (p.Ile32471Thr) c.79028T>C (p.Ile26343Thr) c.100523T>C (p.Ile33508Thr) c.100520T>C (p.Ile33507Thr) c.99953T>C (p.Ile33318Thr) c.97295T>C (p.Ile32432Thr) c.97214T>C (p.Ile32405Thr) c.78977T>C (p.Ile26326Thr) c.68831T>C (p.Ile22944Thr) | |
2 | g.178530533A>T | CA349407072 | TTN,TTN-AS1 | c.98378T>A (p.Ile32793Asn) c.79463T>A (p.Ile26488Asn) c.79262T>A (p.Ile26421Asn) c.78887T>A (p.Ile26296Asn) c.106082T>A (p.Ile35361Asn) c.101159T>A (p.Ile33720Asn) n.446+6897A>T n.220-5199A>T c.105179T>A (p.Ile35060Asn) c.79073T>A (p.Ile26358Asn) c.78932T>A (p.Ile26311Asn) c.104975T>A (p.Ile34992Asn) c.100373T>A (p.Ile33458Asn) c.100370T>A (p.Ile33457Asn) c.97412T>A (p.Ile32471Asn) c.79028T>A (p.Ile26343Asn) c.100523T>A (p.Ile33508Asn) c.100520T>A (p.Ile33507Asn) c.99953T>A (p.Ile33318Asn) c.97295T>A (p.Ile32432Asn) c.97214T>A (p.Ile32405Asn) c.78977T>A (p.Ile26326Asn) c.68831T>A (p.Ile22944Asn) | |
2 | g.178530534T>A | CA349407075 | TTN,TTN-AS1 | c.98377A>T (p.Ile32793Phe) c.79462A>T (p.Ile26488Phe) c.79261A>T (p.Ile26421Phe) c.78886A>T (p.Ile26296Phe) c.106081A>T (p.Ile35361Phe) c.101158A>T (p.Ile33720Phe) n.446+6898T>A n.220-5198T>A c.105178A>T (p.Ile35060Phe) c.79072A>T (p.Ile26358Phe) c.78931A>T (p.Ile26311Phe) c.104974A>T (p.Ile34992Phe) c.100372A>T (p.Ile33458Phe) c.100369A>T (p.Ile33457Phe) c.97411A>T (p.Ile32471Phe) c.79027A>T (p.Ile26343Phe) c.100522A>T (p.Ile33508Phe) c.100519A>T (p.Ile33507Phe) c.99952A>T (p.Ile33318Phe) c.97294A>T (p.Ile32432Phe) c.97213A>T (p.Ile32405Phe) c.78976A>T (p.Ile26326Phe) c.68830A>T (p.Ile22944Phe) | |
2 | g.178530534T>C | CA349407074 | TTN,TTN-AS1 | c.98377A>G (p.Ile32793Val) c.79462A>G (p.Ile26488Val) c.79261A>G (p.Ile26421Val) c.78886A>G (p.Ile26296Val) c.106081A>G (p.Ile35361Val) c.101158A>G (p.Ile33720Val) n.446+6898T>C n.220-5198T>C c.105178A>G (p.Ile35060Val) c.79072A>G (p.Ile26358Val) c.78931A>G (p.Ile26311Val) c.104974A>G (p.Ile34992Val) c.100372A>G (p.Ile33458Val) c.100369A>G (p.Ile33457Val) c.97411A>G (p.Ile32471Val) c.79027A>G (p.Ile26343Val) c.100522A>G (p.Ile33508Val) c.100519A>G (p.Ile33507Val) c.99952A>G (p.Ile33318Val) c.97294A>G (p.Ile32432Val) c.97213A>G (p.Ile32405Val) c.78976A>G (p.Ile26326Val) c.68830A>G (p.Ile22944Val) | dbSNP |
2 | g.178530534T>G | CA349407073 | TTN,TTN-AS1 | c.98377A>C (p.Ile32793Leu) c.79462A>C (p.Ile26488Leu) c.79261A>C (p.Ile26421Leu) c.78886A>C (p.Ile26296Leu) c.106081A>C (p.Ile35361Leu) c.101158A>C (p.Ile33720Leu) n.446+6898T>G n.220-5198T>G c.105178A>C (p.Ile35060Leu) c.79072A>C (p.Ile26358Leu) c.78931A>C (p.Ile26311Leu) c.104974A>C (p.Ile34992Leu) c.100372A>C (p.Ile33458Leu) c.100369A>C (p.Ile33457Leu) c.97411A>C (p.Ile32471Leu) c.79027A>C (p.Ile26343Leu) c.100522A>C (p.Ile33508Leu) c.100519A>C (p.Ile33507Leu) c.99952A>C (p.Ile33318Leu) c.97294A>C (p.Ile32432Leu) c.97213A>C (p.Ile32405Leu) c.78976A>C (p.Ile26326Leu) c.68830A>C (p.Ile22944Leu) | |
2 | g.178530535C>A | CA349407076 | TTN,TTN-AS1 | c.98376G>T (p.Glu32792Asp) c.79461G>T (p.Glu26487Asp) c.79260G>T (p.Glu26420Asp) c.78885G>T (p.Glu26295Asp) c.106080G>T (p.Glu35360Asp) c.101157G>T (p.Glu33719Asp) n.446+6899C>A n.220-5197C>A c.105177G>T (p.Glu35059Asp) c.79071G>T (p.Glu26357Asp) c.78930G>T (p.Glu26310Asp) c.104973G>T (p.Glu34991Asp) c.100371G>T (p.Glu33457Asp) c.100368G>T (p.Glu33456Asp) c.97410G>T (p.Glu32470Asp) c.79026G>T (p.Glu26342Asp) c.100521G>T (p.Glu33507Asp) c.100518G>T (p.Glu33506Asp) c.99951G>T (p.Glu33317Asp) c.97293G>T (p.Glu32431Asp) c.97212G>T (p.Glu32404Asp) c.78975G>T (p.Glu26325Asp) c.68829G>T (p.Glu22943Asp) | |
2 | g.178530535C>G | CA349407077 | TTN,TTN-AS1 | c.98376G>C (p.Glu32792Asp) c.79461G>C (p.Glu26487Asp) c.79260G>C (p.Glu26420Asp) c.78885G>C (p.Glu26295Asp) c.106080G>C (p.Glu35360Asp) c.101157G>C (p.Glu33719Asp) n.446+6899C>G n.220-5197C>G c.105177G>C (p.Glu35059Asp) c.79071G>C (p.Glu26357Asp) c.78930G>C (p.Glu26310Asp) c.104973G>C (p.Glu34991Asp) c.100371G>C (p.Glu33457Asp) c.100368G>C (p.Glu33456Asp) c.97410G>C (p.Glu32470Asp) c.79026G>C (p.Glu26342Asp) c.100521G>C (p.Glu33507Asp) c.100518G>C (p.Glu33506Asp) c.99951G>C (p.Glu33317Asp) c.97293G>C (p.Glu32431Asp) c.97212G>C (p.Glu32404Asp) c.78975G>C (p.Glu26325Asp) c.68829G>C (p.Glu22943Asp) | gnomAD v4 |
2 | g.178530535C>T | CA430235165 | TTN,TTN-AS1 | c.98376G>A (p.Glu32792=) c.79461G>A (p.Glu26487=) c.79260G>A (p.Glu26420=) c.78885G>A (p.Glu26295=) c.106080G>A (p.Glu35360=) c.101157G>A (p.Glu33719=) n.446+6899C>T n.220-5197C>T c.105177G>A (p.Glu35059=) c.79071G>A (p.Glu26357=) c.78930G>A (p.Glu26310=) c.104973G>A (p.Glu34991=) c.100371G>A (p.Glu33457=) c.100368G>A (p.Glu33456=) c.97410G>A (p.Glu32470=) c.79026G>A (p.Glu26342=) c.100521G>A (p.Glu33507=) c.100518G>A (p.Glu33506=) c.99951G>A (p.Glu33317=) c.97293G>A (p.Glu32431=) c.97212G>A (p.Glu32404=) c.78975G>A (p.Glu26325=) c.68829G>A (p.Glu22943=) | |
2 | g.178530536T>A | CA349407078 | TTN,TTN-AS1 | c.98375A>T (p.Glu32792Val) c.79460A>T (p.Glu26487Val) c.79259A>T (p.Glu26420Val) c.78884A>T (p.Glu26295Val) c.106079A>T (p.Glu35360Val) c.101156A>T (p.Glu33719Val) n.446+6900T>A n.220-5196T>A c.105176A>T (p.Glu35059Val) c.79070A>T (p.Glu26357Val) c.78929A>T (p.Glu26310Val) c.104972A>T (p.Glu34991Val) c.100370A>T (p.Glu33457Val) c.100367A>T (p.Glu33456Val) c.97409A>T (p.Glu32470Val) c.79025A>T (p.Glu26342Val) c.100520A>T (p.Glu33507Val) c.100517A>T (p.Glu33506Val) c.99950A>T (p.Glu33317Val) c.97292A>T (p.Glu32431Val) c.97211A>T (p.Glu32404Val) c.78974A>T (p.Glu26325Val) c.68828A>T (p.Glu22943Val) | |
2 | g.178530536T>C | CA349407079 | TTN,TTN-AS1 | c.98375A>G (p.Glu32792Gly) c.79460A>G (p.Glu26487Gly) c.79259A>G (p.Glu26420Gly) c.78884A>G (p.Glu26295Gly) c.106079A>G (p.Glu35360Gly) c.101156A>G (p.Glu33719Gly) n.446+6900T>C n.220-5196T>C c.105176A>G (p.Glu35059Gly) c.79070A>G (p.Glu26357Gly) c.78929A>G (p.Glu26310Gly) c.104972A>G (p.Glu34991Gly) c.100370A>G (p.Glu33457Gly) c.100367A>G (p.Glu33456Gly) c.97409A>G (p.Glu32470Gly) c.79025A>G (p.Glu26342Gly) c.100520A>G (p.Glu33507Gly) c.100517A>G (p.Glu33506Gly) c.99950A>G (p.Glu33317Gly) c.97292A>G (p.Glu32431Gly) c.97211A>G (p.Glu32404Gly) c.78974A>G (p.Glu26325Gly) c.68828A>G (p.Glu22943Gly) | |
2 | g.178530536T>G | CA349407080 | TTN,TTN-AS1 | c.98375A>C (p.Glu32792Ala) c.79460A>C (p.Glu26487Ala) c.79259A>C (p.Glu26420Ala) c.78884A>C (p.Glu26295Ala) c.106079A>C (p.Glu35360Ala) c.101156A>C (p.Glu33719Ala) n.446+6900T>G n.220-5196T>G c.105176A>C (p.Glu35059Ala) c.79070A>C (p.Glu26357Ala) c.78929A>C (p.Glu26310Ala) c.104972A>C (p.Glu34991Ala) c.100370A>C (p.Glu33457Ala) c.100367A>C (p.Glu33456Ala) c.97409A>C (p.Glu32470Ala) c.79025A>C (p.Glu26342Ala) c.100520A>C (p.Glu33507Ala) c.100517A>C (p.Glu33506Ala) c.99950A>C (p.Glu33317Ala) c.97292A>C (p.Glu32431Ala) c.97211A>C (p.Glu32404Ala) c.78974A>C (p.Glu26325Ala) c.68828A>C (p.Glu22943Ala) | |
2 | g.178530537C>A | CA349407081 | TTN,TTN-AS1 | c.98374G>T (p.Glu32792Ter) c.79459G>T (p.Glu26487Ter) c.79258G>T (p.Glu26420Ter) c.78883G>T (p.Glu26295Ter) c.106078G>T (p.Glu35360Ter) c.101155G>T (p.Glu33719Ter) n.446+6901C>A n.220-5195C>A c.105175G>T (p.Glu35059Ter) c.79069G>T (p.Glu26357Ter) c.78928G>T (p.Glu26310Ter) c.104971G>T (p.Glu34991Ter) c.100369G>T (p.Glu33457Ter) c.100366G>T (p.Glu33456Ter) c.97408G>T (p.Glu32470Ter) c.79024G>T (p.Glu26342Ter) c.100519G>T (p.Glu33507Ter) c.100516G>T (p.Glu33506Ter) c.99949G>T (p.Glu33317Ter) c.97291G>T (p.Glu32431Ter) c.97210G>T (p.Glu32404Ter) c.78973G>T (p.Glu26325Ter) c.68827G>T (p.Glu22943Ter) | |
2 | g.178530537C>G | CA349407082 | TTN,TTN-AS1 | c.98374G>C (p.Glu32792Gln) c.79459G>C (p.Glu26487Gln) c.79258G>C (p.Glu26420Gln) c.78883G>C (p.Glu26295Gln) c.106078G>C (p.Glu35360Gln) c.101155G>C (p.Glu33719Gln) n.446+6901C>G n.220-5195C>G c.105175G>C (p.Glu35059Gln) c.79069G>C (p.Glu26357Gln) c.78928G>C (p.Glu26310Gln) c.104971G>C (p.Glu34991Gln) c.100369G>C (p.Glu33457Gln) c.100366G>C (p.Glu33456Gln) c.97408G>C (p.Glu32470Gln) c.79024G>C (p.Glu26342Gln) c.100519G>C (p.Glu33507Gln) c.100516G>C (p.Glu33506Gln) c.99949G>C (p.Glu33317Gln) c.97291G>C (p.Glu32431Gln) c.97210G>C (p.Glu32404Gln) c.78973G>C (p.Glu26325Gln) c.68827G>C (p.Glu22943Gln) | ClinVar gnomAD v4 |
2 | g.178530537C>T | CA349407083 | TTN,TTN-AS1 | c.98374G>A (p.Glu32792Lys) c.79459G>A (p.Glu26487Lys) c.79258G>A (p.Glu26420Lys) c.78883G>A (p.Glu26295Lys) c.106078G>A (p.Glu35360Lys) c.101155G>A (p.Glu33719Lys) n.446+6901C>T n.220-5195C>T c.105175G>A (p.Glu35059Lys) c.79069G>A (p.Glu26357Lys) c.78928G>A (p.Glu26310Lys) c.104971G>A (p.Glu34991Lys) c.100369G>A (p.Glu33457Lys) c.100366G>A (p.Glu33456Lys) c.97408G>A (p.Glu32470Lys) c.79024G>A (p.Glu26342Lys) c.100519G>A (p.Glu33507Lys) c.100516G>A (p.Glu33506Lys) c.99949G>A (p.Glu33317Lys) c.97291G>A (p.Glu32431Lys) c.97210G>A (p.Glu32404Lys) c.78973G>A (p.Glu26325Lys) c.68827G>A (p.Glu22943Lys) | |
2 | g.178530537_178530541delinsCACAA | CA1310514723 | TTN,TTN-AS1 | c.98370_98374delinsTTGTG (p.Val32790=) c.79455_79459delinsTTGTG (p.Val26485=) c.79254_79258delinsTTGTG (p.Val26418=) c.78879_78883delinsTTGTG (p.Val26293=) c.106074_106078delinsTTGTG (p.Val35358=) c.101151_101155delinsTTGTG (p.Val33717=) n.446+6901_446+6905delinsCACAA n.220-5195_220-5191delinsCACAA c.105171_105175delinsTTGTG (p.Val35057=) c.79065_79069delinsTTGTG (p.Val26355=) c.78924_78928delinsTTGTG (p.Val26308=) c.104967_104971delinsTTGTG (p.Val34989=) c.100365_100369delinsTTGTG (p.Val33455=) c.100362_100366delinsTTGTG (p.Val33454=) c.97404_97408delinsTTGTG (p.Val32468=) c.79020_79024delinsTTGTG (p.Val26340=) c.100515_100519delinsTTGTG (p.Val33505=) c.100512_100516delinsTTGTG (p.Val33504=) c.99945_99949delinsTTGTG (p.Val33315=) c.97287_97291delinsTTGTG (p.Val32429=) c.97206_97210delinsTTGTG (p.Val32402=) c.78969_78973delinsTTGTG (p.Val26323=) c.68823_68827delinsTTGTG (p.Val22941=) | |
2 | g.178530538A>C | CA349407084 | TTN,TTN-AS1 | c.98373T>G (p.Cys32791Trp) c.79458T>G (p.Cys26486Trp) c.79257T>G (p.Cys26419Trp) c.78882T>G (p.Cys26294Trp) c.106077T>G (p.Cys35359Trp) c.101154T>G (p.Cys33718Trp) n.446+6902A>C n.220-5194A>C c.105174T>G (p.Cys35058Trp) c.79068T>G (p.Cys26356Trp) c.78927T>G (p.Cys26309Trp) c.104970T>G (p.Cys34990Trp) c.100368T>G (p.Cys33456Trp) c.100365T>G (p.Cys33455Trp) c.97407T>G (p.Cys32469Trp) c.79023T>G (p.Cys26341Trp) c.100518T>G (p.Cys33506Trp) c.100515T>G (p.Cys33505Trp) c.99948T>G (p.Cys33316Trp) c.97290T>G (p.Cys32430Trp) c.97209T>G (p.Cys32403Trp) c.78972T>G (p.Cys26324Trp) c.68826T>G (p.Cys22942Trp) | gnomAD v4 |
2 | g.178530538A>G | CA430235168 | TTN,TTN-AS1 | c.98373T>C (p.Cys32791=) c.79458T>C (p.Cys26486=) c.79257T>C (p.Cys26419=) c.78882T>C (p.Cys26294=) c.106077T>C (p.Cys35359=) c.101154T>C (p.Cys33718=) n.446+6902A>G n.220-5194A>G c.105174T>C (p.Cys35058=) c.79068T>C (p.Cys26356=) c.78927T>C (p.Cys26309=) c.104970T>C (p.Cys34990=) c.100368T>C (p.Cys33456=) c.100365T>C (p.Cys33455=) c.97407T>C (p.Cys32469=) c.79023T>C (p.Cys26341=) c.100518T>C (p.Cys33506=) c.100515T>C (p.Cys33505=) c.99948T>C (p.Cys33316=) c.97290T>C (p.Cys32430=) c.97209T>C (p.Cys32403=) c.78972T>C (p.Cys26324=) c.68826T>C (p.Cys22942=) | |
2 | g.178530538A>T | CA349407085 | TTN,TTN-AS1 | c.98373T>A (p.Cys32791Ter) c.79458T>A (p.Cys26486Ter) c.79257T>A (p.Cys26419Ter) c.78882T>A (p.Cys26294Ter) c.106077T>A (p.Cys35359Ter) c.101154T>A (p.Cys33718Ter) n.446+6902A>T n.220-5194A>T c.105174T>A (p.Cys35058Ter) c.79068T>A (p.Cys26356Ter) c.78927T>A (p.Cys26309Ter) c.104970T>A (p.Cys34990Ter) c.100368T>A (p.Cys33456Ter) c.100365T>A (p.Cys33455Ter) c.97407T>A (p.Cys32469Ter) c.79023T>A (p.Cys26341Ter) c.100518T>A (p.Cys33506Ter) c.100515T>A (p.Cys33505Ter) c.99948T>A (p.Cys33316Ter) c.97290T>A (p.Cys32430Ter) c.97209T>A (p.Cys32403Ter) c.78972T>A (p.Cys26324Ter) c.68826T>A (p.Cys22942Ter) | |
2 | g.178530541_178530544del | CA538434968 | TTN,TTN-AS1 | c.98370_98373del (p.Cys32791ArgfsTer?) c.79455_79458del (p.Cys26486ArgfsTer?) c.79254_79257del (p.Cys26419ArgfsTer?) c.78879_78882del (p.Cys26294ArgfsTer?) c.106074_106077del (p.Cys35359ArgfsTer?) c.101151_101154del (p.Cys33718ArgfsTer?) n.446+6905_446+6908del n.220-5191_220-5188del c.105171_105174del (p.Cys35058ArgfsTer?) c.79065_79068del (p.Cys26356ArgfsTer?) c.78924_78927del (p.Cys26309ArgfsTer?) c.104967_104970del (p.Cys34990ArgfsTer?) c.100365_100368del (p.Cys33456ArgfsTer?) c.100362_100365del (p.Cys33455ArgfsTer?) c.97404_97407del (p.Cys32469ArgfsTer?) c.79020_79023del (p.Cys26341ArgfsTer?) c.100515_100518del (p.Cys33506ArgfsTer?) c.100512_100515del (p.Cys33505ArgfsTer?) c.99945_99948del (p.Cys33316ArgfsTer?) c.97287_97290del (p.Cys32430ArgfsTer?) c.97206_97209del (p.Cys32403ArgfsTer?) c.78969_78972del (p.Cys26324ArgfsTer?) c.68823_68826del (p.Cys22942ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530539C>A | CA349407086 | TTN,TTN-AS1 | c.98372G>T (p.Cys32791Phe) c.79457G>T (p.Cys26486Phe) c.79256G>T (p.Cys26419Phe) c.78881G>T (p.Cys26294Phe) c.106076G>T (p.Cys35359Phe) c.101153G>T (p.Cys33718Phe) n.446+6903C>A n.220-5193C>A c.105173G>T (p.Cys35058Phe) c.79067G>T (p.Cys26356Phe) c.78926G>T (p.Cys26309Phe) c.104969G>T (p.Cys34990Phe) c.100367G>T (p.Cys33456Phe) c.100364G>T (p.Cys33455Phe) c.97406G>T (p.Cys32469Phe) c.79022G>T (p.Cys26341Phe) c.100517G>T (p.Cys33506Phe) c.100514G>T (p.Cys33505Phe) c.99947G>T (p.Cys33316Phe) c.97289G>T (p.Cys32430Phe) c.97208G>T (p.Cys32403Phe) c.78971G>T (p.Cys26324Phe) c.68825G>T (p.Cys22942Phe) | |
2 | g.178530539C>G | CA349407087 | TTN,TTN-AS1 | c.98372G>C (p.Cys32791Ser) c.79457G>C (p.Cys26486Ser) c.79256G>C (p.Cys26419Ser) c.78881G>C (p.Cys26294Ser) c.106076G>C (p.Cys35359Ser) c.101153G>C (p.Cys33718Ser) n.446+6903C>G n.220-5193C>G c.105173G>C (p.Cys35058Ser) c.79067G>C (p.Cys26356Ser) c.78926G>C (p.Cys26309Ser) c.104969G>C (p.Cys34990Ser) c.100367G>C (p.Cys33456Ser) c.100364G>C (p.Cys33455Ser) c.97406G>C (p.Cys32469Ser) c.79022G>C (p.Cys26341Ser) c.100517G>C (p.Cys33506Ser) c.100514G>C (p.Cys33505Ser) c.99947G>C (p.Cys33316Ser) c.97289G>C (p.Cys32430Ser) c.97208G>C (p.Cys32403Ser) c.78971G>C (p.Cys26324Ser) c.68825G>C (p.Cys22942Ser) | |
2 | g.178530539C>T | CA349407088 | TTN,TTN-AS1 | c.98372G>A (p.Cys32791Tyr) c.79457G>A (p.Cys26486Tyr) c.79256G>A (p.Cys26419Tyr) c.78881G>A (p.Cys26294Tyr) c.106076G>A (p.Cys35359Tyr) c.101153G>A (p.Cys33718Tyr) n.446+6903C>T n.220-5193C>T c.105173G>A (p.Cys35058Tyr) c.79067G>A (p.Cys26356Tyr) c.78926G>A (p.Cys26309Tyr) c.104969G>A (p.Cys34990Tyr) c.100367G>A (p.Cys33456Tyr) c.100364G>A (p.Cys33455Tyr) c.97406G>A (p.Cys32469Tyr) c.79022G>A (p.Cys26341Tyr) c.100517G>A (p.Cys33506Tyr) c.100514G>A (p.Cys33505Tyr) c.99947G>A (p.Cys33316Tyr) c.97289G>A (p.Cys32430Tyr) c.97208G>A (p.Cys32403Tyr) c.78971G>A (p.Cys26324Tyr) c.68825G>A (p.Cys22942Tyr) | gnomAD v4 |
2 | g.178530540A= | CA1310514725 | TTN,TTN-AS1 | c.98371T= (p.Cys32791=) c.79456T= (p.Cys26486=) c.79255T= (p.Cys26419=) c.78880T= (p.Cys26294=) c.106075T= (p.Cys35359=) c.101152T= (p.Cys33718=) n.446+6904A= n.220-5192A= c.105172T= (p.Cys35058=) c.79066T= (p.Cys26356=) c.78925T= (p.Cys26309=) c.104968T= (p.Cys34990=) c.100366T= (p.Cys33456=) c.100363T= (p.Cys33455=) c.97405T= (p.Cys32469=) c.79021T= (p.Cys26341=) c.100516T= (p.Cys33506=) c.100513T= (p.Cys33505=) c.99946T= (p.Cys33316=) c.97288T= (p.Cys32430=) c.97207T= (p.Cys32403=) c.78970T= (p.Cys26324=) c.68824T= (p.Cys22942=) | |
2 | g.178530540A>C | CA349407089 | TTN,TTN-AS1 | c.98371T>G (p.Cys32791Gly) c.79456T>G (p.Cys26486Gly) c.79255T>G (p.Cys26419Gly) c.78880T>G (p.Cys26294Gly) c.106075T>G (p.Cys35359Gly) c.101152T>G (p.Cys33718Gly) n.446+6904A>C n.220-5192A>C c.105172T>G (p.Cys35058Gly) c.79066T>G (p.Cys26356Gly) c.78925T>G (p.Cys26309Gly) c.104968T>G (p.Cys34990Gly) c.100366T>G (p.Cys33456Gly) c.100363T>G (p.Cys33455Gly) c.97405T>G (p.Cys32469Gly) c.79021T>G (p.Cys26341Gly) c.100516T>G (p.Cys33506Gly) c.100513T>G (p.Cys33505Gly) c.99946T>G (p.Cys33316Gly) c.97288T>G (p.Cys32430Gly) c.97207T>G (p.Cys32403Gly) c.78970T>G (p.Cys26324Gly) c.68824T>G (p.Cys22942Gly) | |
2 | g.178530540A>G | CA349407091 | TTN,TTN-AS1 | c.98371T>C (p.Cys32791Arg) c.79456T>C (p.Cys26486Arg) c.79255T>C (p.Cys26419Arg) c.78880T>C (p.Cys26294Arg) c.106075T>C (p.Cys35359Arg) c.101152T>C (p.Cys33718Arg) n.446+6904A>G n.220-5192A>G c.105172T>C (p.Cys35058Arg) c.79066T>C (p.Cys26356Arg) c.78925T>C (p.Cys26309Arg) c.104968T>C (p.Cys34990Arg) c.100366T>C (p.Cys33456Arg) c.100363T>C (p.Cys33455Arg) c.97405T>C (p.Cys32469Arg) c.79021T>C (p.Cys26341Arg) c.100516T>C (p.Cys33506Arg) c.100513T>C (p.Cys33505Arg) c.99946T>C (p.Cys33316Arg) c.97288T>C (p.Cys32430Arg) c.97207T>C (p.Cys32403Arg) c.78970T>C (p.Cys26324Arg) c.68824T>C (p.Cys22942Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530540A>T | CA349407090 | TTN,TTN-AS1 | c.98371T>A (p.Cys32791Ser) c.79456T>A (p.Cys26486Ser) c.79255T>A (p.Cys26419Ser) c.78880T>A (p.Cys26294Ser) c.106075T>A (p.Cys35359Ser) c.101152T>A (p.Cys33718Ser) n.446+6904A>T n.220-5192A>T c.105172T>A (p.Cys35058Ser) c.79066T>A (p.Cys26356Ser) c.78925T>A (p.Cys26309Ser) c.104968T>A (p.Cys34990Ser) c.100366T>A (p.Cys33456Ser) c.100363T>A (p.Cys33455Ser) c.97405T>A (p.Cys32469Ser) c.79021T>A (p.Cys26341Ser) c.100516T>A (p.Cys33506Ser) c.100513T>A (p.Cys33505Ser) c.99946T>A (p.Cys33316Ser) c.97288T>A (p.Cys32430Ser) c.97207T>A (p.Cys32403Ser) c.78970T>A (p.Cys26324Ser) c.68824T>A (p.Cys22942Ser) | |
2 | g.178530541A= | CA1310514727 | TTN,TTN-AS1 | c.98370T= (p.Val32790=) c.79455T= (p.Val26485=) c.79254T= (p.Val26418=) c.78879T= (p.Val26293=) c.106074T= (p.Val35358=) c.101151T= (p.Val33717=) n.446+6905A= n.220-5191A= c.105171T= (p.Val35057=) c.79065T= (p.Val26355=) c.78924T= (p.Val26308=) c.104967T= (p.Val34989=) c.100365T= (p.Val33455=) c.100362T= (p.Val33454=) c.97404T= (p.Val32468=) c.79020T= (p.Val26340=) c.100515T= (p.Val33505=) c.100512T= (p.Val33504=) c.99945T= (p.Val33315=) c.97287T= (p.Val32429=) c.97206T= (p.Val32402=) c.78969T= (p.Val26323=) c.68823T= (p.Val22941=) | |
2 | g.178530541A>C | CA430235177 | TTN,TTN-AS1 | c.98370T>G (p.Val32790=) c.79455T>G (p.Val26485=) c.79254T>G (p.Val26418=) c.78879T>G (p.Val26293=) c.106074T>G (p.Val35358=) c.101151T>G (p.Val33717=) n.446+6905A>C n.220-5191A>C c.105171T>G (p.Val35057=) c.79065T>G (p.Val26355=) c.78924T>G (p.Val26308=) c.104967T>G (p.Val34989=) c.100365T>G (p.Val33455=) c.100362T>G (p.Val33454=) c.97404T>G (p.Val32468=) c.79020T>G (p.Val26340=) c.100515T>G (p.Val33505=) c.100512T>G (p.Val33504=) c.99945T>G (p.Val33315=) c.97287T>G (p.Val32429=) c.97206T>G (p.Val32402=) c.78969T>G (p.Val26323=) c.68823T>G (p.Val22941=) | |
2 | g.178530541A>G | CA430235175 | TTN,TTN-AS1 | c.98370T>C (p.Val32790=) c.79455T>C (p.Val26485=) c.79254T>C (p.Val26418=) c.78879T>C (p.Val26293=) c.106074T>C (p.Val35358=) c.101151T>C (p.Val33717=) n.446+6905A>G n.220-5191A>G c.105171T>C (p.Val35057=) c.79065T>C (p.Val26355=) c.78924T>C (p.Val26308=) c.104967T>C (p.Val34989=) c.100365T>C (p.Val33455=) c.100362T>C (p.Val33454=) c.97404T>C (p.Val32468=) c.79020T>C (p.Val26340=) c.100515T>C (p.Val33505=) c.100512T>C (p.Val33504=) c.99945T>C (p.Val33315=) c.97287T>C (p.Val32429=) c.97206T>C (p.Val32402=) c.78969T>C (p.Val26323=) c.68823T>C (p.Val22941=) | dbSNP |
2 | g.178530541A>T | CA430235176 | TTN,TTN-AS1 | c.98370T>A (p.Val32790=) c.79455T>A (p.Val26485=) c.79254T>A (p.Val26418=) c.78879T>A (p.Val26293=) c.106074T>A (p.Val35358=) c.101151T>A (p.Val33717=) n.446+6905A>T n.220-5191A>T c.105171T>A (p.Val35057=) c.79065T>A (p.Val26355=) c.78924T>A (p.Val26308=) c.104967T>A (p.Val34989=) c.100365T>A (p.Val33455=) c.100362T>A (p.Val33454=) c.97404T>A (p.Val32468=) c.79020T>A (p.Val26340=) c.100515T>A (p.Val33505=) c.100512T>A (p.Val33504=) c.99945T>A (p.Val33315=) c.97287T>A (p.Val32429=) c.97206T>A (p.Val32402=) c.78969T>A (p.Val26323=) c.68823T>A (p.Val22941=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530542A= | CA1310514730 | TTN,TTN-AS1 | c.98369T= (p.Val32790=) c.79454T= (p.Val26485=) c.79253T= (p.Val26418=) c.78878T= (p.Val26293=) c.106073T= (p.Val35358=) c.101150T= (p.Val33717=) n.446+6906A= n.220-5190A= c.105170T= (p.Val35057=) c.79064T= (p.Val26355=) c.78923T= (p.Val26308=) c.104966T= (p.Val34989=) c.100364T= (p.Val33455=) c.100361T= (p.Val33454=) c.97403T= (p.Val32468=) c.79019T= (p.Val26340=) c.100514T= (p.Val33505=) c.100511T= (p.Val33504=) c.99944T= (p.Val33315=) c.97286T= (p.Val32429=) c.97205T= (p.Val32402=) c.78968T= (p.Val26323=) c.68822T= (p.Val22941=) | |
2 | g.178530542A>C | CA349407092 | TTN,TTN-AS1 | c.98369T>G (p.Val32790Gly) c.79454T>G (p.Val26485Gly) c.79253T>G (p.Val26418Gly) c.78878T>G (p.Val26293Gly) c.106073T>G (p.Val35358Gly) c.101150T>G (p.Val33717Gly) n.446+6906A>C n.220-5190A>C c.105170T>G (p.Val35057Gly) c.79064T>G (p.Val26355Gly) c.78923T>G (p.Val26308Gly) c.104966T>G (p.Val34989Gly) c.100364T>G (p.Val33455Gly) c.100361T>G (p.Val33454Gly) c.97403T>G (p.Val32468Gly) c.79019T>G (p.Val26340Gly) c.100514T>G (p.Val33505Gly) c.100511T>G (p.Val33504Gly) c.99944T>G (p.Val33315Gly) c.97286T>G (p.Val32429Gly) c.97205T>G (p.Val32402Gly) c.78968T>G (p.Val26323Gly) c.68822T>G (p.Val22941Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530542A>G | CA349407093 | TTN,TTN-AS1 | c.98369T>C (p.Val32790Ala) c.79454T>C (p.Val26485Ala) c.79253T>C (p.Val26418Ala) c.78878T>C (p.Val26293Ala) c.106073T>C (p.Val35358Ala) c.101150T>C (p.Val33717Ala) n.446+6906A>G n.220-5190A>G c.105170T>C (p.Val35057Ala) c.79064T>C (p.Val26355Ala) c.78923T>C (p.Val26308Ala) c.104966T>C (p.Val34989Ala) c.100364T>C (p.Val33455Ala) c.100361T>C (p.Val33454Ala) c.97403T>C (p.Val32468Ala) c.79019T>C (p.Val26340Ala) c.100514T>C (p.Val33505Ala) c.100511T>C (p.Val33504Ala) c.99944T>C (p.Val33315Ala) c.97286T>C (p.Val32429Ala) c.97205T>C (p.Val32402Ala) c.78968T>C (p.Val26323Ala) c.68822T>C (p.Val22941Ala) | |
2 | g.178530542A>T | CA349407094 | TTN,TTN-AS1 | c.98369T>A (p.Val32790Asp) c.79454T>A (p.Val26485Asp) c.79253T>A (p.Val26418Asp) c.78878T>A (p.Val26293Asp) c.106073T>A (p.Val35358Asp) c.101150T>A (p.Val33717Asp) n.446+6906A>T n.220-5190A>T c.105170T>A (p.Val35057Asp) c.79064T>A (p.Val26355Asp) c.78923T>A (p.Val26308Asp) c.104966T>A (p.Val34989Asp) c.100364T>A (p.Val33455Asp) c.100361T>A (p.Val33454Asp) c.97403T>A (p.Val32468Asp) c.79019T>A (p.Val26340Asp) c.100514T>A (p.Val33505Asp) c.100511T>A (p.Val33504Asp) c.99944T>A (p.Val33315Asp) c.97286T>A (p.Val32429Asp) c.97205T>A (p.Val32402Asp) c.78968T>A (p.Val26323Asp) c.68822T>A (p.Val22941Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.178530543C>A | CA349407095 | TTN,TTN-AS1 | c.98368G>T (p.Val32790Phe) c.79453G>T (p.Val26485Phe) c.79252G>T (p.Val26418Phe) c.78877G>T (p.Val26293Phe) c.106072G>T (p.Val35358Phe) c.101149G>T (p.Val33717Phe) n.446+6907C>A n.220-5189C>A c.105169G>T (p.Val35057Phe) c.79063G>T (p.Val26355Phe) c.78922G>T (p.Val26308Phe) c.104965G>T (p.Val34989Phe) c.100363G>T (p.Val33455Phe) c.100360G>T (p.Val33454Phe) c.97402G>T (p.Val32468Phe) c.79018G>T (p.Val26340Phe) c.100513G>T (p.Val33505Phe) c.100510G>T (p.Val33504Phe) c.99943G>T (p.Val33315Phe) c.97285G>T (p.Val32429Phe) c.97204G>T (p.Val32402Phe) c.78967G>T (p.Val26323Phe) c.68821G>T (p.Val22941Phe) | |
2 | g.178530543C>G | CA349407096 | TTN,TTN-AS1 | c.98368G>C (p.Val32790Leu) c.79453G>C (p.Val26485Leu) c.79252G>C (p.Val26418Leu) c.78877G>C (p.Val26293Leu) c.106072G>C (p.Val35358Leu) c.101149G>C (p.Val33717Leu) n.446+6907C>G n.220-5189C>G c.105169G>C (p.Val35057Leu) c.79063G>C (p.Val26355Leu) c.78922G>C (p.Val26308Leu) c.104965G>C (p.Val34989Leu) c.100363G>C (p.Val33455Leu) c.100360G>C (p.Val33454Leu) c.97402G>C (p.Val32468Leu) c.79018G>C (p.Val26340Leu) c.100513G>C (p.Val33505Leu) c.100510G>C (p.Val33504Leu) c.99943G>C (p.Val33315Leu) c.97285G>C (p.Val32429Leu) c.97204G>C (p.Val32402Leu) c.78967G>C (p.Val26323Leu) c.68821G>C (p.Val22941Leu) | |
2 | g.178530543C>T | CA349407097 | TTN,TTN-AS1 | c.98368G>A (p.Val32790Ile) c.79453G>A (p.Val26485Ile) c.79252G>A (p.Val26418Ile) c.78877G>A (p.Val26293Ile) c.106072G>A (p.Val35358Ile) c.101149G>A (p.Val33717Ile) n.446+6907C>T n.220-5189C>T c.105169G>A (p.Val35057Ile) c.79063G>A (p.Val26355Ile) c.78922G>A (p.Val26308Ile) c.104965G>A (p.Val34989Ile) c.100363G>A (p.Val33455Ile) c.100360G>A (p.Val33454Ile) c.97402G>A (p.Val32468Ile) c.79018G>A (p.Val26340Ile) c.100513G>A (p.Val33505Ile) c.100510G>A (p.Val33504Ile) c.99943G>A (p.Val33315Ile) c.97285G>A (p.Val32429Ile) c.97204G>A (p.Val32402Ile) c.78967G>A (p.Val26323Ile) c.68821G>A (p.Val22941Ile) | ClinVar dbSNP |
2 | g.178530544A>C | CA349407098 | TTN,TTN-AS1 | c.98367T>G (p.Tyr32789Ter) c.79452T>G (p.Tyr26484Ter) c.79251T>G (p.Tyr26417Ter) c.78876T>G (p.Tyr26292Ter) c.106071T>G (p.Tyr35357Ter) c.101148T>G (p.Tyr33716Ter) n.446+6908A>C n.220-5188A>C c.105168T>G (p.Tyr35056Ter) c.79062T>G (p.Tyr26354Ter) c.78921T>G (p.Tyr26307Ter) c.104964T>G (p.Tyr34988Ter) c.100362T>G (p.Tyr33454Ter) c.100359T>G (p.Tyr33453Ter) c.97401T>G (p.Tyr32467Ter) c.79017T>G (p.Tyr26339Ter) c.100512T>G (p.Tyr33504Ter) c.100509T>G (p.Tyr33503Ter) c.99942T>G (p.Tyr33314Ter) c.97284T>G (p.Tyr32428Ter) c.97203T>G (p.Tyr32401Ter) c.78966T>G (p.Tyr26322Ter) c.68820T>G (p.Tyr22940Ter) | |
2 | g.178530544A>G | CA430235182 | TTN,TTN-AS1 | c.98367T>C (p.Tyr32789=) c.79452T>C (p.Tyr26484=) c.79251T>C (p.Tyr26417=) c.78876T>C (p.Tyr26292=) c.106071T>C (p.Tyr35357=) c.101148T>C (p.Tyr33716=) n.446+6908A>G n.220-5188A>G c.105168T>C (p.Tyr35056=) c.79062T>C (p.Tyr26354=) c.78921T>C (p.Tyr26307=) c.104964T>C (p.Tyr34988=) c.100362T>C (p.Tyr33454=) c.100359T>C (p.Tyr33453=) c.97401T>C (p.Tyr32467=) c.79017T>C (p.Tyr26339=) c.100512T>C (p.Tyr33504=) c.100509T>C (p.Tyr33503=) c.99942T>C (p.Tyr33314=) c.97284T>C (p.Tyr32428=) c.97203T>C (p.Tyr32401=) c.78966T>C (p.Tyr26322=) c.68820T>C (p.Tyr22940=) | dbSNP gnomAD v4 |
2 | g.178530544A>T | CA349407099 | TTN,TTN-AS1 | c.98367T>A (p.Tyr32789Ter) c.79452T>A (p.Tyr26484Ter) c.79251T>A (p.Tyr26417Ter) c.78876T>A (p.Tyr26292Ter) c.106071T>A (p.Tyr35357Ter) c.101148T>A (p.Tyr33716Ter) n.446+6908A>T n.220-5188A>T c.105168T>A (p.Tyr35056Ter) c.79062T>A (p.Tyr26354Ter) c.78921T>A (p.Tyr26307Ter) c.104964T>A (p.Tyr34988Ter) c.100362T>A (p.Tyr33454Ter) c.100359T>A (p.Tyr33453Ter) c.97401T>A (p.Tyr32467Ter) c.79017T>A (p.Tyr26339Ter) c.100512T>A (p.Tyr33504Ter) c.100509T>A (p.Tyr33503Ter) c.99942T>A (p.Tyr33314Ter) c.97284T>A (p.Tyr32428Ter) c.97203T>A (p.Tyr32401Ter) c.78966T>A (p.Tyr26322Ter) c.68820T>A (p.Tyr22940Ter) | |
2 | g.178530546_178530547del | CA2831039924 | TTN,TTN-AS1 | c.98366_98367del (p.Tyr32789CysfsTer3) c.79451_79452del (p.Tyr26484CysfsTer3) c.79250_79251del (p.Tyr26417CysfsTer3) c.78875_78876del (p.Tyr26292CysfsTer3) c.106070_106071del (p.Tyr35357CysfsTer3) c.101147_101148del (p.Tyr33716CysfsTer3) n.446+6910_446+6911del n.220-5186_220-5185del c.105167_105168del (p.Tyr35056CysfsTer3) c.79061_79062del (p.Tyr26354CysfsTer3) c.78920_78921del (p.Tyr26307CysfsTer3) c.104963_104964del (p.Tyr34988CysfsTer3) c.100361_100362del (p.Tyr33454CysfsTer3) c.100358_100359del (p.Tyr33453CysfsTer3) c.97400_97401del (p.Tyr32467CysfsTer3) c.79016_79017del (p.Tyr26339CysfsTer3) c.100511_100512del (p.Tyr33504CysfsTer3) c.100508_100509del (p.Tyr33503CysfsTer3) c.99941_99942del (p.Tyr33314CysfsTer3) c.97283_97284del (p.Tyr32428CysfsTer3) c.97202_97203del (p.Tyr32401CysfsTer3) c.78965_78966del (p.Tyr26322CysfsTer3) c.68819_68820del (p.Tyr22940CysfsTer3) | |
2 | g.178530545T>A | CA349407100 | TTN,TTN-AS1 | c.98366A>T (p.Tyr32789Phe) c.79451A>T (p.Tyr26484Phe) c.79250A>T (p.Tyr26417Phe) c.78875A>T (p.Tyr26292Phe) c.106070A>T (p.Tyr35357Phe) c.101147A>T (p.Tyr33716Phe) n.446+6909T>A n.220-5187T>A c.105167A>T (p.Tyr35056Phe) c.79061A>T (p.Tyr26354Phe) c.78920A>T (p.Tyr26307Phe) c.104963A>T (p.Tyr34988Phe) c.100361A>T (p.Tyr33454Phe) c.100358A>T (p.Tyr33453Phe) c.97400A>T (p.Tyr32467Phe) c.79016A>T (p.Tyr26339Phe) c.100511A>T (p.Tyr33504Phe) c.100508A>T (p.Tyr33503Phe) c.99941A>T (p.Tyr33314Phe) c.97283A>T (p.Tyr32428Phe) c.97202A>T (p.Tyr32401Phe) c.78965A>T (p.Tyr26322Phe) c.68819A>T (p.Tyr22940Phe) | |
2 | g.178530545T>C | CA349407101 | TTN,TTN-AS1 | c.98366A>G (p.Tyr32789Cys) c.79451A>G (p.Tyr26484Cys) c.79250A>G (p.Tyr26417Cys) c.78875A>G (p.Tyr26292Cys) c.106070A>G (p.Tyr35357Cys) c.101147A>G (p.Tyr33716Cys) n.446+6909T>C n.220-5187T>C c.105167A>G (p.Tyr35056Cys) c.79061A>G (p.Tyr26354Cys) c.78920A>G (p.Tyr26307Cys) c.104963A>G (p.Tyr34988Cys) c.100361A>G (p.Tyr33454Cys) c.100358A>G (p.Tyr33453Cys) c.97400A>G (p.Tyr32467Cys) c.79016A>G (p.Tyr26339Cys) c.100511A>G (p.Tyr33504Cys) c.100508A>G (p.Tyr33503Cys) c.99941A>G (p.Tyr33314Cys) c.97283A>G (p.Tyr32428Cys) c.97202A>G (p.Tyr32401Cys) c.78965A>G (p.Tyr26322Cys) c.68819A>G (p.Tyr22940Cys) | |
2 | g.178530545T>G | CA349407102 | TTN,TTN-AS1 | c.98366A>C (p.Tyr32789Ser) c.79451A>C (p.Tyr26484Ser) c.79250A>C (p.Tyr26417Ser) c.78875A>C (p.Tyr26292Ser) c.106070A>C (p.Tyr35357Ser) c.101147A>C (p.Tyr33716Ser) n.446+6909T>G n.220-5187T>G c.105167A>C (p.Tyr35056Ser) c.79061A>C (p.Tyr26354Ser) c.78920A>C (p.Tyr26307Ser) c.104963A>C (p.Tyr34988Ser) c.100361A>C (p.Tyr33454Ser) c.100358A>C (p.Tyr33453Ser) c.97400A>C (p.Tyr32467Ser) c.79016A>C (p.Tyr26339Ser) c.100511A>C (p.Tyr33504Ser) c.100508A>C (p.Tyr33503Ser) c.99941A>C (p.Tyr33314Ser) c.97283A>C (p.Tyr32428Ser) c.97202A>C (p.Tyr32401Ser) c.78965A>C (p.Tyr26322Ser) c.68819A>C (p.Tyr22940Ser) | ClinVar |
2 | g.178530546A= | CA1310514732 | TTN,TTN-AS1 | c.98365T= (p.Tyr32789=) c.79450T= (p.Tyr26484=) c.79249T= (p.Tyr26417=) c.78874T= (p.Tyr26292=) c.106069T= (p.Tyr35357=) c.101146T= (p.Tyr33716=) n.446+6910A= n.220-5186A= c.105166T= (p.Tyr35056=) c.79060T= (p.Tyr26354=) c.78919T= (p.Tyr26307=) c.104962T= (p.Tyr34988=) c.100360T= (p.Tyr33454=) c.100357T= (p.Tyr33453=) c.97399T= (p.Tyr32467=) c.79015T= (p.Tyr26339=) c.100510T= (p.Tyr33504=) c.100507T= (p.Tyr33503=) c.99940T= (p.Tyr33314=) c.97282T= (p.Tyr32428=) c.97201T= (p.Tyr32401=) c.78964T= (p.Tyr26322=) c.68818T= (p.Tyr22940=) | |
2 | g.178530546A>C | CA349407104 | TTN,TTN-AS1 | c.98365T>G (p.Tyr32789Asp) c.79450T>G (p.Tyr26484Asp) c.79249T>G (p.Tyr26417Asp) c.78874T>G (p.Tyr26292Asp) c.106069T>G (p.Tyr35357Asp) c.101146T>G (p.Tyr33716Asp) n.446+6910A>C n.220-5186A>C c.105166T>G (p.Tyr35056Asp) c.79060T>G (p.Tyr26354Asp) c.78919T>G (p.Tyr26307Asp) c.104962T>G (p.Tyr34988Asp) c.100360T>G (p.Tyr33454Asp) c.100357T>G (p.Tyr33453Asp) c.97399T>G (p.Tyr32467Asp) c.79015T>G (p.Tyr26339Asp) c.100510T>G (p.Tyr33504Asp) c.100507T>G (p.Tyr33503Asp) c.99940T>G (p.Tyr33314Asp) c.97282T>G (p.Tyr32428Asp) c.97201T>G (p.Tyr32401Asp) c.78964T>G (p.Tyr26322Asp) c.68818T>G (p.Tyr22940Asp) | |
2 | g.178530546A>G | CA349407105 | TTN,TTN-AS1 | c.98365T>C (p.Tyr32789His) c.79450T>C (p.Tyr26484His) c.79249T>C (p.Tyr26417His) c.78874T>C (p.Tyr26292His) c.106069T>C (p.Tyr35357His) c.101146T>C (p.Tyr33716His) n.446+6910A>G n.220-5186A>G c.105166T>C (p.Tyr35056His) c.79060T>C (p.Tyr26354His) c.78919T>C (p.Tyr26307His) c.104962T>C (p.Tyr34988His) c.100360T>C (p.Tyr33454His) c.100357T>C (p.Tyr33453His) c.97399T>C (p.Tyr32467His) c.79015T>C (p.Tyr26339His) c.100510T>C (p.Tyr33504His) c.100507T>C (p.Tyr33503His) c.99940T>C (p.Tyr33314His) c.97282T>C (p.Tyr32428His) c.97201T>C (p.Tyr32401His) c.78964T>C (p.Tyr26322His) c.68818T>C (p.Tyr22940His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530546A>T | CA349407103 | TTN,TTN-AS1 | c.98365T>A (p.Tyr32789Asn) c.79450T>A (p.Tyr26484Asn) c.79249T>A (p.Tyr26417Asn) c.78874T>A (p.Tyr26292Asn) c.106069T>A (p.Tyr35357Asn) c.101146T>A (p.Tyr33716Asn) n.446+6910A>T n.220-5186A>T c.105166T>A (p.Tyr35056Asn) c.79060T>A (p.Tyr26354Asn) c.78919T>A (p.Tyr26307Asn) c.104962T>A (p.Tyr34988Asn) c.100360T>A (p.Tyr33454Asn) c.100357T>A (p.Tyr33453Asn) c.97399T>A (p.Tyr32467Asn) c.79015T>A (p.Tyr26339Asn) c.100510T>A (p.Tyr33504Asn) c.100507T>A (p.Tyr33503Asn) c.99940T>A (p.Tyr33314Asn) c.97282T>A (p.Tyr32428Asn) c.97201T>A (p.Tyr32401Asn) c.78964T>A (p.Tyr26322Asn) c.68818T>A (p.Tyr22940Asn) | |
2 | g.178530547T>A | CA349407107 | TTN,TTN-AS1 | c.98364A>T (p.Glu32788Asp) c.79449A>T (p.Glu26483Asp) c.79248A>T (p.Glu26416Asp) c.78873A>T (p.Glu26291Asp) c.106068A>T (p.Glu35356Asp) c.101145A>T (p.Glu33715Asp) n.446+6911T>A n.220-5185T>A c.105165A>T (p.Glu35055Asp) c.79059A>T (p.Glu26353Asp) c.78918A>T (p.Glu26306Asp) c.104961A>T (p.Glu34987Asp) c.100359A>T (p.Glu33453Asp) c.100356A>T (p.Glu33452Asp) c.97398A>T (p.Glu32466Asp) c.79014A>T (p.Glu26338Asp) c.100509A>T (p.Glu33503Asp) c.100506A>T (p.Glu33502Asp) c.99939A>T (p.Glu33313Asp) c.97281A>T (p.Glu32427Asp) c.97200A>T (p.Glu32400Asp) c.78963A>T (p.Glu26321Asp) c.68817A>T (p.Glu22939Asp) | |
2 | g.178530547T>C | CA430235188 | TTN,TTN-AS1 | c.98364A>G (p.Glu32788=) c.79449A>G (p.Glu26483=) c.79248A>G (p.Glu26416=) c.78873A>G (p.Glu26291=) c.106068A>G (p.Glu35356=) c.101145A>G (p.Glu33715=) n.446+6911T>C n.220-5185T>C c.105165A>G (p.Glu35055=) c.79059A>G (p.Glu26353=) c.78918A>G (p.Glu26306=) c.104961A>G (p.Glu34987=) c.100359A>G (p.Glu33453=) c.100356A>G (p.Glu33452=) c.97398A>G (p.Glu32466=) c.79014A>G (p.Glu26338=) c.100509A>G (p.Glu33503=) c.100506A>G (p.Glu33502=) c.99939A>G (p.Glu33313=) c.97281A>G (p.Glu32427=) c.97200A>G (p.Glu32400=) c.78963A>G (p.Glu26321=) c.68817A>G (p.Glu22939=) | gnomAD v4 |
2 | g.178530547T>G | CA349407106 | TTN,TTN-AS1 | c.98364A>C (p.Glu32788Asp) c.79449A>C (p.Glu26483Asp) c.79248A>C (p.Glu26416Asp) c.78873A>C (p.Glu26291Asp) c.106068A>C (p.Glu35356Asp) c.101145A>C (p.Glu33715Asp) n.446+6911T>G n.220-5185T>G c.105165A>C (p.Glu35055Asp) c.79059A>C (p.Glu26353Asp) c.78918A>C (p.Glu26306Asp) c.104961A>C (p.Glu34987Asp) c.100359A>C (p.Glu33453Asp) c.100356A>C (p.Glu33452Asp) c.97398A>C (p.Glu32466Asp) c.79014A>C (p.Glu26338Asp) c.100509A>C (p.Glu33503Asp) c.100506A>C (p.Glu33502Asp) c.99939A>C (p.Glu33313Asp) c.97281A>C (p.Glu32427Asp) c.97200A>C (p.Glu32400Asp) c.78963A>C (p.Glu26321Asp) c.68817A>C (p.Glu22939Asp) | gnomAD v4 |
2 | g.178530548T>A | CA349407110 | TTN,TTN-AS1 | c.98363A>T (p.Glu32788Val) c.79448A>T (p.Glu26483Val) c.79247A>T (p.Glu26416Val) c.78872A>T (p.Glu26291Val) c.106067A>T (p.Glu35356Val) c.101144A>T (p.Glu33715Val) n.446+6912T>A n.220-5184T>A c.105164A>T (p.Glu35055Val) c.79058A>T (p.Glu26353Val) c.78917A>T (p.Glu26306Val) c.104960A>T (p.Glu34987Val) c.100358A>T (p.Glu33453Val) c.100355A>T (p.Glu33452Val) c.97397A>T (p.Glu32466Val) c.79013A>T (p.Glu26338Val) c.100508A>T (p.Glu33503Val) c.100505A>T (p.Glu33502Val) c.99938A>T (p.Glu33313Val) c.97280A>T (p.Glu32427Val) c.97199A>T (p.Glu32400Val) c.78962A>T (p.Glu26321Val) c.68816A>T (p.Glu22939Val) | |
2 | g.178530548T>C | CA349407108 | TTN,TTN-AS1 | c.98363A>G (p.Glu32788Gly) c.79448A>G (p.Glu26483Gly) c.79247A>G (p.Glu26416Gly) c.78872A>G (p.Glu26291Gly) c.106067A>G (p.Glu35356Gly) c.101144A>G (p.Glu33715Gly) n.446+6912T>C n.220-5184T>C c.105164A>G (p.Glu35055Gly) c.79058A>G (p.Glu26353Gly) c.78917A>G (p.Glu26306Gly) c.104960A>G (p.Glu34987Gly) c.100358A>G (p.Glu33453Gly) c.100355A>G (p.Glu33452Gly) c.97397A>G (p.Glu32466Gly) c.79013A>G (p.Glu26338Gly) c.100508A>G (p.Glu33503Gly) c.100505A>G (p.Glu33502Gly) c.99938A>G (p.Glu33313Gly) c.97280A>G (p.Glu32427Gly) c.97199A>G (p.Glu32400Gly) c.78962A>G (p.Glu26321Gly) c.68816A>G (p.Glu22939Gly) | |
2 | g.178530548T>G | CA349407109 | TTN,TTN-AS1 | c.98363A>C (p.Glu32788Ala) c.79448A>C (p.Glu26483Ala) c.79247A>C (p.Glu26416Ala) c.78872A>C (p.Glu26291Ala) c.106067A>C (p.Glu35356Ala) c.101144A>C (p.Glu33715Ala) n.446+6912T>G n.220-5184T>G c.105164A>C (p.Glu35055Ala) c.79058A>C (p.Glu26353Ala) c.78917A>C (p.Glu26306Ala) c.104960A>C (p.Glu34987Ala) c.100358A>C (p.Glu33453Ala) c.100355A>C (p.Glu33452Ala) c.97397A>C (p.Glu32466Ala) c.79013A>C (p.Glu26338Ala) c.100508A>C (p.Glu33503Ala) c.100505A>C (p.Glu33502Ala) c.99938A>C (p.Glu33313Ala) c.97280A>C (p.Glu32427Ala) c.97199A>C (p.Glu32400Ala) c.78962A>C (p.Glu26321Ala) c.68816A>C (p.Glu22939Ala) | |
2 | g.178530548_178530551delinsTCTC | CA1310514734 | TTN,TTN-AS1 | c.98360_98363delinsGAGA (p.Gly32787=) c.79445_79448delinsGAGA (p.Gly26482=) c.79244_79247delinsGAGA (p.Gly26415=) c.78869_78872delinsGAGA (p.Gly26290=) c.106064_106067delinsGAGA (p.Gly35355=) c.101141_101144delinsGAGA (p.Gly33714=) n.446+6912_446+6915delinsTCTC n.220-5184_220-5181delinsTCTC c.105161_105164delinsGAGA (p.Gly35054=) c.79055_79058delinsGAGA (p.Gly26352=) c.78914_78917delinsGAGA (p.Gly26305=) c.104957_104960delinsGAGA (p.Gly34986=) c.100355_100358delinsGAGA (p.Gly33452=) c.100352_100355delinsGAGA (p.Gly33451=) c.97394_97397delinsGAGA (p.Gly32465=) c.79010_79013delinsGAGA (p.Gly26337=) c.100505_100508delinsGAGA (p.Gly33502=) c.100502_100505delinsGAGA (p.Gly33501=) c.99935_99938delinsGAGA (p.Gly33312=) c.97277_97280delinsGAGA (p.Gly32426=) c.97196_97199delinsGAGA (p.Gly32399=) c.78959_78962delinsGAGA (p.Gly26320=) c.68813_68816delinsGAGA (p.Gly22938=) | |
2 | g.178530549C>A | CA349407111 | TTN,TTN-AS1 | c.98362G>T (p.Glu32788Ter) c.79447G>T (p.Glu26483Ter) c.79246G>T (p.Glu26416Ter) c.78871G>T (p.Glu26291Ter) c.106066G>T (p.Glu35356Ter) c.101143G>T (p.Glu33715Ter) n.446+6913C>A n.220-5183C>A c.105163G>T (p.Glu35055Ter) c.79057G>T (p.Glu26353Ter) c.78916G>T (p.Glu26306Ter) c.104959G>T (p.Glu34987Ter) c.100357G>T (p.Glu33453Ter) c.100354G>T (p.Glu33452Ter) c.97396G>T (p.Glu32466Ter) c.79012G>T (p.Glu26338Ter) c.100507G>T (p.Glu33503Ter) c.100504G>T (p.Glu33502Ter) c.99937G>T (p.Glu33313Ter) c.97279G>T (p.Glu32427Ter) c.97198G>T (p.Glu32400Ter) c.78961G>T (p.Glu26321Ter) c.68815G>T (p.Glu22939Ter) | |
2 | g.178530549C= | CA1310514736 | TTN,TTN-AS1 | c.98362G= (p.Glu32788=) c.79447G= (p.Glu26483=) c.79246G= (p.Glu26416=) c.78871G= (p.Glu26291=) c.106066G= (p.Glu35356=) c.101143G= (p.Glu33715=) n.446+6913C= n.220-5183C= c.105163G= (p.Glu35055=) c.79057G= (p.Glu26353=) c.78916G= (p.Glu26306=) c.104959G= (p.Glu34987=) c.100357G= (p.Glu33453=) c.100354G= (p.Glu33452=) c.97396G= (p.Glu32466=) c.79012G= (p.Glu26338=) c.100507G= (p.Glu33503=) c.100504G= (p.Glu33502=) c.99937G= (p.Glu33313=) c.97279G= (p.Glu32427=) c.97198G= (p.Glu32400=) c.78961G= (p.Glu26321=) c.68815G= (p.Glu22939=) | |
2 | g.178530549C>G | CA349407112 | TTN,TTN-AS1 | c.98362G>C (p.Glu32788Gln) c.79447G>C (p.Glu26483Gln) c.79246G>C (p.Glu26416Gln) c.78871G>C (p.Glu26291Gln) c.106066G>C (p.Glu35356Gln) c.101143G>C (p.Glu33715Gln) n.446+6913C>G n.220-5183C>G c.105163G>C (p.Glu35055Gln) c.79057G>C (p.Glu26353Gln) c.78916G>C (p.Glu26306Gln) c.104959G>C (p.Glu34987Gln) c.100357G>C (p.Glu33453Gln) c.100354G>C (p.Glu33452Gln) c.97396G>C (p.Glu32466Gln) c.79012G>C (p.Glu26338Gln) c.100507G>C (p.Glu33503Gln) c.100504G>C (p.Glu33502Gln) c.99937G>C (p.Glu33313Gln) c.97279G>C (p.Glu32427Gln) c.97198G>C (p.Glu32400Gln) c.78961G>C (p.Glu26321Gln) c.68815G>C (p.Glu22939Gln) | |
2 | g.178530549C>T | CA10611592 | TTN,TTN-AS1 | c.98362G>A (p.Glu32788Lys) c.79447G>A (p.Glu26483Lys) c.79246G>A (p.Glu26416Lys) c.78871G>A (p.Glu26291Lys) c.106066G>A (p.Glu35356Lys) c.101143G>A (p.Glu33715Lys) n.446+6913C>T n.220-5183C>T c.105163G>A (p.Glu35055Lys) c.79057G>A (p.Glu26353Lys) c.78916G>A (p.Glu26306Lys) c.104959G>A (p.Glu34987Lys) c.100357G>A (p.Glu33453Lys) c.100354G>A (p.Glu33452Lys) c.97396G>A (p.Glu32466Lys) c.79012G>A (p.Glu26338Lys) c.100507G>A (p.Glu33503Lys) c.100504G>A (p.Glu33502Lys) c.99937G>A (p.Glu33313Lys) c.97279G>A (p.Glu32427Lys) c.97198G>A (p.Glu32400Lys) c.78961G>A (p.Glu26321Lys) c.68815G>A (p.Glu22939Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530551_178530553del | CA1310514737 | TTN,TTN-AS1 | c.98360_98362del (p.Gly32787del) c.79445_79447del (p.Gly26482del) c.79244_79246del (p.Gly26415del) c.78869_78871del (p.Gly26290del) c.106064_106066del (p.Gly35355del) c.101141_101143del (p.Gly33714del) n.446+6915_446+6917del n.220-5181_220-5179del c.105161_105163del (p.Gly35054del) c.79055_79057del (p.Gly26352del) c.78914_78916del (p.Gly26305del) c.104957_104959del (p.Gly34986del) c.100355_100357del (p.Gly33452del) c.100352_100354del (p.Gly33451del) c.97394_97396del (p.Gly32465del) c.79010_79012del (p.Gly26337del) c.100505_100507del (p.Gly33502del) c.100502_100504del (p.Gly33501del) c.99935_99937del (p.Gly33312del) c.97277_97279del (p.Gly32426del) c.97196_97198del (p.Gly32399del) c.78959_78961del (p.Gly26320del) c.68813_68815del (p.Gly22938del) | dbSNP |
2 | g.178530550del | CA2662125998 | TTN,TTN-AS1 | c.98361del (p.Glu32788AsnfsTer?) c.79446del (p.Glu26483AsnfsTer?) c.79245del (p.Glu26416AsnfsTer?) c.78870del (p.Glu26291AsnfsTer?) c.106065del (p.Glu35356AsnfsTer?) c.101142del (p.Glu33715AsnfsTer?) n.446+6914del n.220-5182del c.105162del (p.Glu35055AsnfsTer?) c.79056del (p.Glu26353AsnfsTer?) c.78915del (p.Glu26306AsnfsTer?) c.104958del (p.Glu34987AsnfsTer?) c.100356del (p.Glu33453AsnfsTer?) c.100353del (p.Glu33452AsnfsTer?) c.97395del (p.Glu32466AsnfsTer?) c.79011del (p.Glu26338AsnfsTer?) c.100506del (p.Glu33503AsnfsTer?) c.100503del (p.Glu33502AsnfsTer?) c.99936del (p.Glu33313AsnfsTer?) c.97278del (p.Glu32427AsnfsTer?) c.97197del (p.Glu32400AsnfsTer?) c.78960del (p.Glu26321AsnfsTer?) c.68814del (p.Glu22939AsnfsTer?) | gnomAD v4 |
2 | g.178530550T>A | CA430235193 | TTN,TTN-AS1 | c.98361A>T (p.Gly32787=) c.79446A>T (p.Gly26482=) c.79245A>T (p.Gly26415=) c.78870A>T (p.Gly26290=) c.106065A>T (p.Gly35355=) c.101142A>T (p.Gly33714=) n.446+6914T>A n.220-5182T>A c.105162A>T (p.Gly35054=) c.79056A>T (p.Gly26352=) c.78915A>T (p.Gly26305=) c.104958A>T (p.Gly34986=) c.100356A>T (p.Gly33452=) c.100353A>T (p.Gly33451=) c.97395A>T (p.Gly32465=) c.79011A>T (p.Gly26337=) c.100506A>T (p.Gly33502=) c.100503A>T (p.Gly33501=) c.99936A>T (p.Gly33312=) c.97278A>T (p.Gly32426=) c.97197A>T (p.Gly32399=) c.78960A>T (p.Gly26320=) c.68814A>T (p.Gly22938=) | |
2 | g.178530550T>C | CA430235194 | TTN,TTN-AS1 | c.98361A>G (p.Gly32787=) c.79446A>G (p.Gly26482=) c.79245A>G (p.Gly26415=) c.78870A>G (p.Gly26290=) c.106065A>G (p.Gly35355=) c.101142A>G (p.Gly33714=) n.446+6914T>C n.220-5182T>C c.105162A>G (p.Gly35054=) c.79056A>G (p.Gly26352=) c.78915A>G (p.Gly26305=) c.104958A>G (p.Gly34986=) c.100356A>G (p.Gly33452=) c.100353A>G (p.Gly33451=) c.97395A>G (p.Gly32465=) c.79011A>G (p.Gly26337=) c.100506A>G (p.Gly33502=) c.100503A>G (p.Gly33501=) c.99936A>G (p.Gly33312=) c.97278A>G (p.Gly32426=) c.97197A>G (p.Gly32399=) c.78960A>G (p.Gly26320=) c.68814A>G (p.Gly22938=) | |
2 | g.178530550T>G | CA430235195 | TTN,TTN-AS1 | c.98361A>C (p.Gly32787=) c.79446A>C (p.Gly26482=) c.79245A>C (p.Gly26415=) c.78870A>C (p.Gly26290=) c.106065A>C (p.Gly35355=) c.101142A>C (p.Gly33714=) n.446+6914T>G n.220-5182T>G c.105162A>C (p.Gly35054=) c.79056A>C (p.Gly26352=) c.78915A>C (p.Gly26305=) c.104958A>C (p.Gly34986=) c.100356A>C (p.Gly33452=) c.100353A>C (p.Gly33451=) c.97395A>C (p.Gly32465=) c.79011A>C (p.Gly26337=) c.100506A>C (p.Gly33502=) c.100503A>C (p.Gly33501=) c.99936A>C (p.Gly33312=) c.97278A>C (p.Gly32426=) c.97197A>C (p.Gly32399=) c.78960A>C (p.Gly26320=) c.68814A>C (p.Gly22938=) | |
2 | g.178530551C>A | CA349407113 | TTN,TTN-AS1 | c.98360G>T (p.Gly32787Val) c.79445G>T (p.Gly26482Val) c.79244G>T (p.Gly26415Val) c.78869G>T (p.Gly26290Val) c.106064G>T (p.Gly35355Val) c.101141G>T (p.Gly33714Val) n.446+6915C>A n.220-5181C>A c.105161G>T (p.Gly35054Val) c.79055G>T (p.Gly26352Val) c.78914G>T (p.Gly26305Val) c.104957G>T (p.Gly34986Val) c.100355G>T (p.Gly33452Val) c.100352G>T (p.Gly33451Val) c.97394G>T (p.Gly32465Val) c.79010G>T (p.Gly26337Val) c.100505G>T (p.Gly33502Val) c.100502G>T (p.Gly33501Val) c.99935G>T (p.Gly33312Val) c.97277G>T (p.Gly32426Val) c.97196G>T (p.Gly32399Val) c.78959G>T (p.Gly26320Val) c.68813G>T (p.Gly22938Val) | |
2 | g.178530551C= | CA1310514739 | TTN,TTN-AS1 | c.98360G= (p.Gly32787=) c.79445G= (p.Gly26482=) c.79244G= (p.Gly26415=) c.78869G= (p.Gly26290=) c.106064G= (p.Gly35355=) c.101141G= (p.Gly33714=) n.446+6915C= n.220-5181C= c.105161G= (p.Gly35054=) c.79055G= (p.Gly26352=) c.78914G= (p.Gly26305=) c.104957G= (p.Gly34986=) c.100355G= (p.Gly33452=) c.100352G= (p.Gly33451=) c.97394G= (p.Gly32465=) c.79010G= (p.Gly26337=) c.100505G= (p.Gly33502=) c.100502G= (p.Gly33501=) c.99935G= (p.Gly33312=) c.97277G= (p.Gly32426=) c.97196G= (p.Gly32399=) c.78959G= (p.Gly26320=) c.68813G= (p.Gly22938=) | |
2 | g.178530551C>G | CA349407114 | TTN,TTN-AS1 | c.98360G>C (p.Gly32787Ala) c.79445G>C (p.Gly26482Ala) c.79244G>C (p.Gly26415Ala) c.78869G>C (p.Gly26290Ala) c.106064G>C (p.Gly35355Ala) c.101141G>C (p.Gly33714Ala) n.446+6915C>G n.220-5181C>G c.105161G>C (p.Gly35054Ala) c.79055G>C (p.Gly26352Ala) c.78914G>C (p.Gly26305Ala) c.104957G>C (p.Gly34986Ala) c.100355G>C (p.Gly33452Ala) c.100352G>C (p.Gly33451Ala) c.97394G>C (p.Gly32465Ala) c.79010G>C (p.Gly26337Ala) c.100505G>C (p.Gly33502Ala) c.100502G>C (p.Gly33501Ala) c.99935G>C (p.Gly33312Ala) c.97277G>C (p.Gly32426Ala) c.97196G>C (p.Gly32399Ala) c.78959G>C (p.Gly26320Ala) c.68813G>C (p.Gly22938Ala) | gnomAD v4 |
2 | g.178530551C>T | CA60953449 | TTN,TTN-AS1 | c.98360G>A (p.Gly32787Glu) c.79445G>A (p.Gly26482Glu) c.79244G>A (p.Gly26415Glu) c.78869G>A (p.Gly26290Glu) c.106064G>A (p.Gly35355Glu) c.101141G>A (p.Gly33714Glu) n.446+6915C>T n.220-5181C>T c.105161G>A (p.Gly35054Glu) c.79055G>A (p.Gly26352Glu) c.78914G>A (p.Gly26305Glu) c.104957G>A (p.Gly34986Glu) c.100355G>A (p.Gly33452Glu) c.100352G>A (p.Gly33451Glu) c.97394G>A (p.Gly32465Glu) c.79010G>A (p.Gly26337Glu) c.100505G>A (p.Gly33502Glu) c.100502G>A (p.Gly33501Glu) c.99935G>A (p.Gly33312Glu) c.97277G>A (p.Gly32426Glu) c.97196G>A (p.Gly32399Glu) c.78959G>A (p.Gly26320Glu) c.68813G>A (p.Gly22938Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530552C>A | CA349407115 | TTN,TTN-AS1 | c.98359G>T (p.Gly32787Ter) c.79444G>T (p.Gly26482Ter) c.79243G>T (p.Gly26415Ter) c.78868G>T (p.Gly26290Ter) c.106063G>T (p.Gly35355Ter) c.101140G>T (p.Gly33714Ter) n.446+6916C>A n.220-5180C>A c.105160G>T (p.Gly35054Ter) c.79054G>T (p.Gly26352Ter) c.78913G>T (p.Gly26305Ter) c.104956G>T (p.Gly34986Ter) c.100354G>T (p.Gly33452Ter) c.100351G>T (p.Gly33451Ter) c.97393G>T (p.Gly32465Ter) c.79009G>T (p.Gly26337Ter) c.100504G>T (p.Gly33502Ter) c.100501G>T (p.Gly33501Ter) c.99934G>T (p.Gly33312Ter) c.97276G>T (p.Gly32426Ter) c.97195G>T (p.Gly32399Ter) c.78958G>T (p.Gly26320Ter) c.68812G>T (p.Gly22938Ter) | |
2 | g.178530552C>G | CA349407116 | TTN,TTN-AS1 | c.98359G>C (p.Gly32787Arg) c.79444G>C (p.Gly26482Arg) c.79243G>C (p.Gly26415Arg) c.78868G>C (p.Gly26290Arg) c.106063G>C (p.Gly35355Arg) c.101140G>C (p.Gly33714Arg) n.446+6916C>G n.220-5180C>G c.105160G>C (p.Gly35054Arg) c.79054G>C (p.Gly26352Arg) c.78913G>C (p.Gly26305Arg) c.104956G>C (p.Gly34986Arg) c.100354G>C (p.Gly33452Arg) c.100351G>C (p.Gly33451Arg) c.97393G>C (p.Gly32465Arg) c.79009G>C (p.Gly26337Arg) c.100504G>C (p.Gly33502Arg) c.100501G>C (p.Gly33501Arg) c.99934G>C (p.Gly33312Arg) c.97276G>C (p.Gly32426Arg) c.97195G>C (p.Gly32399Arg) c.78958G>C (p.Gly26320Arg) c.68812G>C (p.Gly22938Arg) | |
2 | g.178530552C>T | CA349407117 | TTN,TTN-AS1 | c.98359G>A (p.Gly32787Arg) c.79444G>A (p.Gly26482Arg) c.79243G>A (p.Gly26415Arg) c.78868G>A (p.Gly26290Arg) c.106063G>A (p.Gly35355Arg) c.101140G>A (p.Gly33714Arg) n.446+6916C>T n.220-5180C>T c.105160G>A (p.Gly35054Arg) c.79054G>A (p.Gly26352Arg) c.78913G>A (p.Gly26305Arg) c.104956G>A (p.Gly34986Arg) c.100354G>A (p.Gly33452Arg) c.100351G>A (p.Gly33451Arg) c.97393G>A (p.Gly32465Arg) c.79009G>A (p.Gly26337Arg) c.100504G>A (p.Gly33502Arg) c.100501G>A (p.Gly33501Arg) c.99934G>A (p.Gly33312Arg) c.97276G>A (p.Gly32426Arg) c.97195G>A (p.Gly32399Arg) c.78958G>A (p.Gly26320Arg) c.68812G>A (p.Gly22938Arg) | |
2 | g.178530553T>A | CA349407118 | TTN,TTN-AS1 | c.98358A>T (p.Gln32786His) c.79443A>T (p.Gln26481His) c.79242A>T (p.Gln26414His) c.78867A>T (p.Gln26289His) c.106062A>T (p.Gln35354His) c.101139A>T (p.Gln33713His) n.446+6917T>A n.220-5179T>A c.105159A>T (p.Gln35053His) c.79053A>T (p.Gln26351His) c.78912A>T (p.Gln26304His) c.104955A>T (p.Gln34985His) c.100353A>T (p.Gln33451His) c.100350A>T (p.Gln33450His) c.97392A>T (p.Gln32464His) c.79008A>T (p.Gln26336His) c.100503A>T (p.Gln33501His) c.100500A>T (p.Gln33500His) c.99933A>T (p.Gln33311His) c.97275A>T (p.Gln32425His) c.97194A>T (p.Gln32398His) c.78957A>T (p.Gln26319His) c.68811A>T (p.Gln22937His) | dbSNP |
2 | g.178530553T>C | CA430235200 | TTN,TTN-AS1 | c.98358A>G (p.Gln32786=) c.79443A>G (p.Gln26481=) c.79242A>G (p.Gln26414=) c.78867A>G (p.Gln26289=) c.106062A>G (p.Gln35354=) c.101139A>G (p.Gln33713=) n.446+6917T>C n.220-5179T>C c.105159A>G (p.Gln35053=) c.79053A>G (p.Gln26351=) c.78912A>G (p.Gln26304=) c.104955A>G (p.Gln34985=) c.100353A>G (p.Gln33451=) c.100350A>G (p.Gln33450=) c.97392A>G (p.Gln32464=) c.79008A>G (p.Gln26336=) c.100503A>G (p.Gln33501=) c.100500A>G (p.Gln33500=) c.99933A>G (p.Gln33311=) c.97275A>G (p.Gln32425=) c.97194A>G (p.Gln32398=) c.78957A>G (p.Gln26319=) c.68811A>G (p.Gln22937=) | |
2 | g.178530553T>G | CA349407119 | TTN,TTN-AS1 | c.98358A>C (p.Gln32786His) c.79443A>C (p.Gln26481His) c.79242A>C (p.Gln26414His) c.78867A>C (p.Gln26289His) c.106062A>C (p.Gln35354His) c.101139A>C (p.Gln33713His) n.446+6917T>G n.220-5179T>G c.105159A>C (p.Gln35053His) c.79053A>C (p.Gln26351His) c.78912A>C (p.Gln26304His) c.104955A>C (p.Gln34985His) c.100353A>C (p.Gln33451His) c.100350A>C (p.Gln33450His) c.97392A>C (p.Gln32464His) c.79008A>C (p.Gln26336His) c.100503A>C (p.Gln33501His) c.100500A>C (p.Gln33500His) c.99933A>C (p.Gln33311His) c.97275A>C (p.Gln32425His) c.97194A>C (p.Gln32398His) c.78957A>C (p.Gln26319His) c.68811A>C (p.Gln22937His) | |
2 | g.178530554T>A | CA349407121 | TTN,TTN-AS1 | c.98357A>T (p.Gln32786Leu) c.79442A>T (p.Gln26481Leu) c.79241A>T (p.Gln26414Leu) c.78866A>T (p.Gln26289Leu) c.106061A>T (p.Gln35354Leu) c.101138A>T (p.Gln33713Leu) n.446+6918T>A n.220-5178T>A c.105158A>T (p.Gln35053Leu) c.79052A>T (p.Gln26351Leu) c.78911A>T (p.Gln26304Leu) c.104954A>T (p.Gln34985Leu) c.100352A>T (p.Gln33451Leu) c.100349A>T (p.Gln33450Leu) c.97391A>T (p.Gln32464Leu) c.79007A>T (p.Gln26336Leu) c.100502A>T (p.Gln33501Leu) c.100499A>T (p.Gln33500Leu) c.99932A>T (p.Gln33311Leu) c.97274A>T (p.Gln32425Leu) c.97193A>T (p.Gln32398Leu) c.78956A>T (p.Gln26319Leu) c.68810A>T (p.Gln22937Leu) | |
2 | g.178530554T>C | CA1985167 | TTN,TTN-AS1 | c.98357A>G (p.Gln32786Arg) c.79442A>G (p.Gln26481Arg) c.79241A>G (p.Gln26414Arg) c.78866A>G (p.Gln26289Arg) c.106061A>G (p.Gln35354Arg) c.101138A>G (p.Gln33713Arg) n.446+6918T>C n.220-5178T>C c.105158A>G (p.Gln35053Arg) c.79052A>G (p.Gln26351Arg) c.78911A>G (p.Gln26304Arg) c.104954A>G (p.Gln34985Arg) c.100352A>G (p.Gln33451Arg) c.100349A>G (p.Gln33450Arg) c.97391A>G (p.Gln32464Arg) c.79007A>G (p.Gln26336Arg) c.100502A>G (p.Gln33501Arg) c.100499A>G (p.Gln33500Arg) c.99932A>G (p.Gln33311Arg) c.97274A>G (p.Gln32425Arg) c.97193A>G (p.Gln32398Arg) c.78956A>G (p.Gln26319Arg) c.68810A>G (p.Gln22937Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530554T>G | CA349407120 | TTN,TTN-AS1 | c.98357A>C (p.Gln32786Pro) c.79442A>C (p.Gln26481Pro) c.79241A>C (p.Gln26414Pro) c.78866A>C (p.Gln26289Pro) c.106061A>C (p.Gln35354Pro) c.101138A>C (p.Gln33713Pro) n.446+6918T>G n.220-5178T>G c.105158A>C (p.Gln35053Pro) c.79052A>C (p.Gln26351Pro) c.78911A>C (p.Gln26304Pro) c.104954A>C (p.Gln34985Pro) c.100352A>C (p.Gln33451Pro) c.100349A>C (p.Gln33450Pro) c.97391A>C (p.Gln32464Pro) c.79007A>C (p.Gln26336Pro) c.100502A>C (p.Gln33501Pro) c.100499A>C (p.Gln33500Pro) c.99932A>C (p.Gln33311Pro) c.97274A>C (p.Gln32425Pro) c.97193A>C (p.Gln32398Pro) c.78956A>C (p.Gln26319Pro) c.68810A>C (p.Gln22937Pro) | |
2 | g.178530554T= | CA1310514741 | TTN,TTN-AS1 | c.98357A= (p.Gln32786=) c.79442A= (p.Gln26481=) c.79241A= (p.Gln26414=) c.78866A= (p.Gln26289=) c.106061A= (p.Gln35354=) c.101138A= (p.Gln33713=) n.446+6918T= n.220-5178T= c.105158A= (p.Gln35053=) c.79052A= (p.Gln26351=) c.78911A= (p.Gln26304=) c.104954A= (p.Gln34985=) c.100352A= (p.Gln33451=) c.100349A= (p.Gln33450=) c.97391A= (p.Gln32464=) c.79007A= (p.Gln26336=) c.100502A= (p.Gln33501=) c.100499A= (p.Gln33500=) c.99932A= (p.Gln33311=) c.97274A= (p.Gln32425=) c.97193A= (p.Gln32398=) c.78956A= (p.Gln26319=) c.68810A= (p.Gln22937=) | |
2 | g.178530555G>A | CA1985168 | TTN,TTN-AS1 | c.98356C>T (p.Gln32786Ter) c.79441C>T (p.Gln26481Ter) c.79240C>T (p.Gln26414Ter) c.78865C>T (p.Gln26289Ter) c.106060C>T (p.Gln35354Ter) c.101137C>T (p.Gln33713Ter) n.446+6919G>A n.220-5177G>A c.105157C>T (p.Gln35053Ter) c.79051C>T (p.Gln26351Ter) c.78910C>T (p.Gln26304Ter) c.104953C>T (p.Gln34985Ter) c.100351C>T (p.Gln33451Ter) c.100348C>T (p.Gln33450Ter) c.97390C>T (p.Gln32464Ter) c.79006C>T (p.Gln26336Ter) c.100501C>T (p.Gln33501Ter) c.100498C>T (p.Gln33500Ter) c.99931C>T (p.Gln33311Ter) c.97273C>T (p.Gln32425Ter) c.97192C>T (p.Gln32398Ter) c.78955C>T (p.Gln26319Ter) c.68809C>T (p.Gln22937Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530555G>C | CA349407122 | TTN,TTN-AS1 | c.98356C>G (p.Gln32786Glu) c.79441C>G (p.Gln26481Glu) c.79240C>G (p.Gln26414Glu) c.78865C>G (p.Gln26289Glu) c.106060C>G (p.Gln35354Glu) c.101137C>G (p.Gln33713Glu) n.446+6919G>C n.220-5177G>C c.105157C>G (p.Gln35053Glu) c.79051C>G (p.Gln26351Glu) c.78910C>G (p.Gln26304Glu) c.104953C>G (p.Gln34985Glu) c.100351C>G (p.Gln33451Glu) c.100348C>G (p.Gln33450Glu) c.97390C>G (p.Gln32464Glu) c.79006C>G (p.Gln26336Glu) c.100501C>G (p.Gln33501Glu) c.100498C>G (p.Gln33500Glu) c.99931C>G (p.Gln33311Glu) c.97273C>G (p.Gln32425Glu) c.97192C>G (p.Gln32398Glu) c.78955C>G (p.Gln26319Glu) c.68809C>G (p.Gln22937Glu) | |
2 | g.178530555G= | CA1310514744 | TTN,TTN-AS1 | c.98356C= (p.Gln32786=) c.79441C= (p.Gln26481=) c.79240C= (p.Gln26414=) c.78865C= (p.Gln26289=) c.106060C= (p.Gln35354=) c.101137C= (p.Gln33713=) n.446+6919G= n.220-5177G= c.105157C= (p.Gln35053=) c.79051C= (p.Gln26351=) c.78910C= (p.Gln26304=) c.104953C= (p.Gln34985=) c.100351C= (p.Gln33451=) c.100348C= (p.Gln33450=) c.97390C= (p.Gln32464=) c.79006C= (p.Gln26336=) c.100501C= (p.Gln33501=) c.100498C= (p.Gln33500=) c.99931C= (p.Gln33311=) c.97273C= (p.Gln32425=) c.97192C= (p.Gln32398=) c.78955C= (p.Gln26319=) c.68809C= (p.Gln22937=) | |
2 | g.178530555G>T | CA349407123 | TTN,TTN-AS1 | c.98356C>A (p.Gln32786Lys) c.79441C>A (p.Gln26481Lys) c.79240C>A (p.Gln26414Lys) c.78865C>A (p.Gln26289Lys) c.106060C>A (p.Gln35354Lys) c.101137C>A (p.Gln33713Lys) n.446+6919G>T n.220-5177G>T c.105157C>A (p.Gln35053Lys) c.79051C>A (p.Gln26351Lys) c.78910C>A (p.Gln26304Lys) c.104953C>A (p.Gln34985Lys) c.100351C>A (p.Gln33451Lys) c.100348C>A (p.Gln33450Lys) c.97390C>A (p.Gln32464Lys) c.79006C>A (p.Gln26336Lys) c.100501C>A (p.Gln33501Lys) c.100498C>A (p.Gln33500Lys) c.99931C>A (p.Gln33311Lys) c.97273C>A (p.Gln32425Lys) c.97192C>A (p.Gln32398Lys) c.78955C>A (p.Gln26319Lys) c.68809C>A (p.Gln22937Lys) | |
2 | g.178530556A= | CA1310514745 | TTN,TTN-AS1 | c.98355T= (p.Asp32785=) c.79440T= (p.Asp26480=) c.79239T= (p.Asp26413=) c.78864T= (p.Asp26288=) c.106059T= (p.Asp35353=) c.101136T= (p.Asp33712=) n.446+6920A= n.220-5176A= c.105156T= (p.Asp35052=) c.79050T= (p.Asp26350=) c.78909T= (p.Asp26303=) c.104952T= (p.Asp34984=) c.100350T= (p.Asp33450=) c.100347T= (p.Asp33449=) c.97389T= (p.Asp32463=) c.79005T= (p.Asp26335=) c.100500T= (p.Asp33500=) c.100497T= (p.Asp33499=) c.99930T= (p.Asp33310=) c.97272T= (p.Asp32424=) c.97191T= (p.Asp32397=) c.78954T= (p.Asp26318=) c.68808T= (p.Asp22936=) | |
2 | g.178530556A>C | CA349407124 | TTN,TTN-AS1 | c.98355T>G (p.Asp32785Glu) c.79440T>G (p.Asp26480Glu) c.79239T>G (p.Asp26413Glu) c.78864T>G (p.Asp26288Glu) c.106059T>G (p.Asp35353Glu) c.101136T>G (p.Asp33712Glu) n.446+6920A>C n.220-5176A>C c.105156T>G (p.Asp35052Glu) c.79050T>G (p.Asp26350Glu) c.78909T>G (p.Asp26303Glu) c.104952T>G (p.Asp34984Glu) c.100350T>G (p.Asp33450Glu) c.100347T>G (p.Asp33449Glu) c.97389T>G (p.Asp32463Glu) c.79005T>G (p.Asp26335Glu) c.100500T>G (p.Asp33500Glu) c.100497T>G (p.Asp33499Glu) c.99930T>G (p.Asp33310Glu) c.97272T>G (p.Asp32424Glu) c.97191T>G (p.Asp32397Glu) c.78954T>G (p.Asp26318Glu) c.68808T>G (p.Asp22936Glu) | |
2 | g.178530556A>G | CA430235206 | TTN,TTN-AS1 | c.98355T>C (p.Asp32785=) c.79440T>C (p.Asp26480=) c.79239T>C (p.Asp26413=) c.78864T>C (p.Asp26288=) c.106059T>C (p.Asp35353=) c.101136T>C (p.Asp33712=) n.446+6920A>G n.220-5176A>G c.105156T>C (p.Asp35052=) c.79050T>C (p.Asp26350=) c.78909T>C (p.Asp26303=) c.104952T>C (p.Asp34984=) c.100350T>C (p.Asp33450=) c.100347T>C (p.Asp33449=) c.97389T>C (p.Asp32463=) c.79005T>C (p.Asp26335=) c.100500T>C (p.Asp33500=) c.100497T>C (p.Asp33499=) c.99930T>C (p.Asp33310=) c.97272T>C (p.Asp32424=) c.97191T>C (p.Asp32397=) c.78954T>C (p.Asp26318=) c.68808T>C (p.Asp22936=) | dbSNP |
2 | g.178530556A>T | CA349407125 | TTN,TTN-AS1 | c.98355T>A (p.Asp32785Glu) c.79440T>A (p.Asp26480Glu) c.79239T>A (p.Asp26413Glu) c.78864T>A (p.Asp26288Glu) c.106059T>A (p.Asp35353Glu) c.101136T>A (p.Asp33712Glu) n.446+6920A>T n.220-5176A>T c.105156T>A (p.Asp35052Glu) c.79050T>A (p.Asp26350Glu) c.78909T>A (p.Asp26303Glu) c.104952T>A (p.Asp34984Glu) c.100350T>A (p.Asp33450Glu) c.100347T>A (p.Asp33449Glu) c.97389T>A (p.Asp32463Glu) c.79005T>A (p.Asp26335Glu) c.100500T>A (p.Asp33500Glu) c.100497T>A (p.Asp33499Glu) c.99930T>A (p.Asp33310Glu) c.97272T>A (p.Asp32424Glu) c.97191T>A (p.Asp32397Glu) c.78954T>A (p.Asp26318Glu) c.68808T>A (p.Asp22936Glu) | dbSNP |
2 | g.178530557T>A | CA349407126 | TTN,TTN-AS1 | c.98354A>T (p.Asp32785Val) c.79439A>T (p.Asp26480Val) c.79238A>T (p.Asp26413Val) c.78863A>T (p.Asp26288Val) c.106058A>T (p.Asp35353Val) c.101135A>T (p.Asp33712Val) n.446+6921T>A n.220-5175T>A c.105155A>T (p.Asp35052Val) c.79049A>T (p.Asp26350Val) c.78908A>T (p.Asp26303Val) c.104951A>T (p.Asp34984Val) c.100349A>T (p.Asp33450Val) c.100346A>T (p.Asp33449Val) c.97388A>T (p.Asp32463Val) c.79004A>T (p.Asp26335Val) c.100499A>T (p.Asp33500Val) c.100496A>T (p.Asp33499Val) c.99929A>T (p.Asp33310Val) c.97271A>T (p.Asp32424Val) c.97190A>T (p.Asp32397Val) c.78953A>T (p.Asp26318Val) c.68807A>T (p.Asp22936Val) | |
2 | g.178530557T>C | CA349407127 | TTN,TTN-AS1 | c.98354A>G (p.Asp32785Gly) c.79439A>G (p.Asp26480Gly) c.79238A>G (p.Asp26413Gly) c.78863A>G (p.Asp26288Gly) c.106058A>G (p.Asp35353Gly) c.101135A>G (p.Asp33712Gly) n.446+6921T>C n.220-5175T>C c.105155A>G (p.Asp35052Gly) c.79049A>G (p.Asp26350Gly) c.78908A>G (p.Asp26303Gly) c.104951A>G (p.Asp34984Gly) c.100349A>G (p.Asp33450Gly) c.100346A>G (p.Asp33449Gly) c.97388A>G (p.Asp32463Gly) c.79004A>G (p.Asp26335Gly) c.100499A>G (p.Asp33500Gly) c.100496A>G (p.Asp33499Gly) c.99929A>G (p.Asp33310Gly) c.97271A>G (p.Asp32424Gly) c.97190A>G (p.Asp32397Gly) c.78953A>G (p.Asp26318Gly) c.68807A>G (p.Asp22936Gly) | gnomAD v4 |
2 | g.178530557T>G | CA349407128 | TTN,TTN-AS1 | c.98354A>C (p.Asp32785Ala) c.79439A>C (p.Asp26480Ala) c.79238A>C (p.Asp26413Ala) c.78863A>C (p.Asp26288Ala) c.106058A>C (p.Asp35353Ala) c.101135A>C (p.Asp33712Ala) n.446+6921T>G n.220-5175T>G c.105155A>C (p.Asp35052Ala) c.79049A>C (p.Asp26350Ala) c.78908A>C (p.Asp26303Ala) c.104951A>C (p.Asp34984Ala) c.100349A>C (p.Asp33450Ala) c.100346A>C (p.Asp33449Ala) c.97388A>C (p.Asp32463Ala) c.79004A>C (p.Asp26335Ala) c.100499A>C (p.Asp33500Ala) c.100496A>C (p.Asp33499Ala) c.99929A>C (p.Asp33310Ala) c.97271A>C (p.Asp32424Ala) c.97190A>C (p.Asp32397Ala) c.78953A>C (p.Asp26318Ala) c.68807A>C (p.Asp22936Ala) | |
2 | g.178530558C>A | CA349407129 | TTN,TTN-AS1 | c.98353G>T (p.Asp32785Tyr) c.79438G>T (p.Asp26480Tyr) c.79237G>T (p.Asp26413Tyr) c.78862G>T (p.Asp26288Tyr) c.106057G>T (p.Asp35353Tyr) c.101134G>T (p.Asp33712Tyr) n.446+6922C>A n.220-5174C>A c.105154G>T (p.Asp35052Tyr) c.79048G>T (p.Asp26350Tyr) c.78907G>T (p.Asp26303Tyr) c.104950G>T (p.Asp34984Tyr) c.100348G>T (p.Asp33450Tyr) c.100345G>T (p.Asp33449Tyr) c.97387G>T (p.Asp32463Tyr) c.79003G>T (p.Asp26335Tyr) c.100498G>T (p.Asp33500Tyr) c.100495G>T (p.Asp33499Tyr) c.99928G>T (p.Asp33310Tyr) c.97270G>T (p.Asp32424Tyr) c.97189G>T (p.Asp32397Tyr) c.78952G>T (p.Asp26318Tyr) c.68806G>T (p.Asp22936Tyr) | |
2 | g.178530558C= | CA1310514747 | TTN,TTN-AS1 | c.98353G= (p.Asp32785=) c.79438G= (p.Asp26480=) c.79237G= (p.Asp26413=) c.78862G= (p.Asp26288=) c.106057G= (p.Asp35353=) c.101134G= (p.Asp33712=) n.446+6922C= n.220-5174C= c.105154G= (p.Asp35052=) c.79048G= (p.Asp26350=) c.78907G= (p.Asp26303=) c.104950G= (p.Asp34984=) c.100348G= (p.Asp33450=) c.100345G= (p.Asp33449=) c.97387G= (p.Asp32463=) c.79003G= (p.Asp26335=) c.100498G= (p.Asp33500=) c.100495G= (p.Asp33499=) c.99928G= (p.Asp33310=) c.97270G= (p.Asp32424=) c.97189G= (p.Asp32397=) c.78952G= (p.Asp26318=) c.68806G= (p.Asp22936=) | |
2 | g.178530558C>G | CA1985169 | TTN,TTN-AS1 | c.98353G>C (p.Asp32785His) c.79438G>C (p.Asp26480His) c.79237G>C (p.Asp26413His) c.78862G>C (p.Asp26288His) c.106057G>C (p.Asp35353His) c.101134G>C (p.Asp33712His) n.446+6922C>G n.220-5174C>G c.105154G>C (p.Asp35052His) c.79048G>C (p.Asp26350His) c.78907G>C (p.Asp26303His) c.104950G>C (p.Asp34984His) c.100348G>C (p.Asp33450His) c.100345G>C (p.Asp33449His) c.97387G>C (p.Asp32463His) c.79003G>C (p.Asp26335His) c.100498G>C (p.Asp33500His) c.100495G>C (p.Asp33499His) c.99928G>C (p.Asp33310His) c.97270G>C (p.Asp32424His) c.97189G>C (p.Asp32397His) c.78952G>C (p.Asp26318His) c.68806G>C (p.Asp22936His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530558C>T | CA349407130 | TTN,TTN-AS1 | c.98353G>A (p.Asp32785Asn) c.79438G>A (p.Asp26480Asn) c.79237G>A (p.Asp26413Asn) c.78862G>A (p.Asp26288Asn) c.106057G>A (p.Asp35353Asn) c.101134G>A (p.Asp33712Asn) n.446+6922C>T n.220-5174C>T c.105154G>A (p.Asp35052Asn) c.79048G>A (p.Asp26350Asn) c.78907G>A (p.Asp26303Asn) c.104950G>A (p.Asp34984Asn) c.100348G>A (p.Asp33450Asn) c.100345G>A (p.Asp33449Asn) c.97387G>A (p.Asp32463Asn) c.79003G>A (p.Asp26335Asn) c.100498G>A (p.Asp33500Asn) c.100495G>A (p.Asp33499Asn) c.99928G>A (p.Asp33310Asn) c.97270G>A (p.Asp32424Asn) c.97189G>A (p.Asp32397Asn) c.78952G>A (p.Asp26318Asn) c.68806G>A (p.Asp22936Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530559A>C | CA430235214 | TTN,TTN-AS1 | c.98352T>G (p.Ser32784=) c.79437T>G (p.Ser26479=) c.79236T>G (p.Ser26412=) c.78861T>G (p.Ser26287=) c.106056T>G (p.Ser35352=) c.101133T>G (p.Ser33711=) n.446+6923A>C n.220-5173A>C c.105153T>G (p.Ser35051=) c.79047T>G (p.Ser26349=) c.78906T>G (p.Ser26302=) c.104949T>G (p.Ser34983=) c.100347T>G (p.Ser33449=) c.100344T>G (p.Ser33448=) c.97386T>G (p.Ser32462=) c.79002T>G (p.Ser26334=) c.100497T>G (p.Ser33499=) c.100494T>G (p.Ser33498=) c.99927T>G (p.Ser33309=) c.97269T>G (p.Ser32423=) c.97188T>G (p.Ser32396=) c.78951T>G (p.Ser26317=) c.68805T>G (p.Ser22935=) | |
2 | g.178530559A>G | CA430235217 | TTN,TTN-AS1 | c.98352T>C (p.Ser32784=) c.79437T>C (p.Ser26479=) c.79236T>C (p.Ser26412=) c.78861T>C (p.Ser26287=) c.106056T>C (p.Ser35352=) c.101133T>C (p.Ser33711=) n.446+6923A>G n.220-5173A>G c.105153T>C (p.Ser35051=) c.79047T>C (p.Ser26349=) c.78906T>C (p.Ser26302=) c.104949T>C (p.Ser34983=) c.100347T>C (p.Ser33449=) c.100344T>C (p.Ser33448=) c.97386T>C (p.Ser32462=) c.79002T>C (p.Ser26334=) c.100497T>C (p.Ser33499=) c.100494T>C (p.Ser33498=) c.99927T>C (p.Ser33309=) c.97269T>C (p.Ser32423=) c.97188T>C (p.Ser32396=) c.78951T>C (p.Ser26317=) c.68805T>C (p.Ser22935=) | dbSNP |
2 | g.178530559A>T | CA430235215 | TTN,TTN-AS1 | c.98352T>A (p.Ser32784=) c.79437T>A (p.Ser26479=) c.79236T>A (p.Ser26412=) c.78861T>A (p.Ser26287=) c.106056T>A (p.Ser35352=) c.101133T>A (p.Ser33711=) n.446+6923A>T n.220-5173A>T c.105153T>A (p.Ser35051=) c.79047T>A (p.Ser26349=) c.78906T>A (p.Ser26302=) c.104949T>A (p.Ser34983=) c.100347T>A (p.Ser33449=) c.100344T>A (p.Ser33448=) c.97386T>A (p.Ser32462=) c.79002T>A (p.Ser26334=) c.100497T>A (p.Ser33499=) c.100494T>A (p.Ser33498=) c.99927T>A (p.Ser33309=) c.97269T>A (p.Ser32423=) c.97188T>A (p.Ser32396=) c.78951T>A (p.Ser26317=) c.68805T>A (p.Ser22935=) | |
2 | g.178530560G>A | CA349407131 | TTN,TTN-AS1 | c.98351C>T (p.Ser32784Phe) c.79436C>T (p.Ser26479Phe) c.79235C>T (p.Ser26412Phe) c.78860C>T (p.Ser26287Phe) c.106055C>T (p.Ser35352Phe) c.101132C>T (p.Ser33711Phe) n.446+6924G>A n.220-5172G>A c.105152C>T (p.Ser35051Phe) c.79046C>T (p.Ser26349Phe) c.78905C>T (p.Ser26302Phe) c.104948C>T (p.Ser34983Phe) c.100346C>T (p.Ser33449Phe) c.100343C>T (p.Ser33448Phe) c.97385C>T (p.Ser32462Phe) c.79001C>T (p.Ser26334Phe) c.100496C>T (p.Ser33499Phe) c.100493C>T (p.Ser33498Phe) c.99926C>T (p.Ser33309Phe) c.97268C>T (p.Ser32423Phe) c.97187C>T (p.Ser32396Phe) c.78950C>T (p.Ser26317Phe) c.68804C>T (p.Ser22935Phe) | |
2 | g.178530560G>C | CA60953460 | TTN,TTN-AS1 | c.98351C>G (p.Ser32784Cys) c.79436C>G (p.Ser26479Cys) c.79235C>G (p.Ser26412Cys) c.78860C>G (p.Ser26287Cys) c.106055C>G (p.Ser35352Cys) c.101132C>G (p.Ser33711Cys) n.446+6924G>C n.220-5172G>C c.105152C>G (p.Ser35051Cys) c.79046C>G (p.Ser26349Cys) c.78905C>G (p.Ser26302Cys) c.104948C>G (p.Ser34983Cys) c.100346C>G (p.Ser33449Cys) c.100343C>G (p.Ser33448Cys) c.97385C>G (p.Ser32462Cys) c.79001C>G (p.Ser26334Cys) c.100496C>G (p.Ser33499Cys) c.100493C>G (p.Ser33498Cys) c.99926C>G (p.Ser33309Cys) c.97268C>G (p.Ser32423Cys) c.97187C>G (p.Ser32396Cys) c.78950C>G (p.Ser26317Cys) c.68804C>G (p.Ser22935Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530560G= | CA1310514750 | TTN,TTN-AS1 | c.98351C= (p.Ser32784=) c.79436C= (p.Ser26479=) c.79235C= (p.Ser26412=) c.78860C= (p.Ser26287=) c.106055C= (p.Ser35352=) c.101132C= (p.Ser33711=) n.446+6924G= n.220-5172G= c.105152C= (p.Ser35051=) c.79046C= (p.Ser26349=) c.78905C= (p.Ser26302=) c.104948C= (p.Ser34983=) c.100346C= (p.Ser33449=) c.100343C= (p.Ser33448=) c.97385C= (p.Ser32462=) c.79001C= (p.Ser26334=) c.100496C= (p.Ser33499=) c.100493C= (p.Ser33498=) c.99926C= (p.Ser33309=) c.97268C= (p.Ser32423=) c.97187C= (p.Ser32396=) c.78950C= (p.Ser26317=) c.68804C= (p.Ser22935=) | |
2 | g.178530560G>T | CA1985170 | TTN,TTN-AS1 | c.98351C>A (p.Ser32784Tyr) c.79436C>A (p.Ser26479Tyr) c.79235C>A (p.Ser26412Tyr) c.78860C>A (p.Ser26287Tyr) c.106055C>A (p.Ser35352Tyr) c.101132C>A (p.Ser33711Tyr) n.446+6924G>T n.220-5172G>T c.105152C>A (p.Ser35051Tyr) c.79046C>A (p.Ser26349Tyr) c.78905C>A (p.Ser26302Tyr) c.104948C>A (p.Ser34983Tyr) c.100346C>A (p.Ser33449Tyr) c.100343C>A (p.Ser33448Tyr) c.97385C>A (p.Ser32462Tyr) c.79001C>A (p.Ser26334Tyr) c.100496C>A (p.Ser33499Tyr) c.100493C>A (p.Ser33498Tyr) c.99926C>A (p.Ser33309Tyr) c.97268C>A (p.Ser32423Tyr) c.97187C>A (p.Ser32396Tyr) c.78950C>A (p.Ser26317Tyr) c.68804C>A (p.Ser22935Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530561A= | CA1310514753 | TTN,TTN-AS1 | c.98350T= (p.Ser32784=) c.79435T= (p.Ser26479=) c.79234T= (p.Ser26412=) c.78859T= (p.Ser26287=) c.106054T= (p.Ser35352=) c.101131T= (p.Ser33711=) n.446+6925A= n.220-5171A= c.105151T= (p.Ser35051=) c.79045T= (p.Ser26349=) c.78904T= (p.Ser26302=) c.104947T= (p.Ser34983=) c.100345T= (p.Ser33449=) c.100342T= (p.Ser33448=) c.97384T= (p.Ser32462=) c.79000T= (p.Ser26334=) c.100495T= (p.Ser33499=) c.100492T= (p.Ser33498=) c.99925T= (p.Ser33309=) c.97267T= (p.Ser32423=) c.97186T= (p.Ser32396=) c.78949T= (p.Ser26317=) c.68803T= (p.Ser22935=) | |
2 | g.178530561A>C | CA349407132 | TTN,TTN-AS1 | c.98350T>G (p.Ser32784Ala) c.79435T>G (p.Ser26479Ala) c.79234T>G (p.Ser26412Ala) c.78859T>G (p.Ser26287Ala) c.106054T>G (p.Ser35352Ala) c.101131T>G (p.Ser33711Ala) n.446+6925A>C n.220-5171A>C c.105151T>G (p.Ser35051Ala) c.79045T>G (p.Ser26349Ala) c.78904T>G (p.Ser26302Ala) c.104947T>G (p.Ser34983Ala) c.100345T>G (p.Ser33449Ala) c.100342T>G (p.Ser33448Ala) c.97384T>G (p.Ser32462Ala) c.79000T>G (p.Ser26334Ala) c.100495T>G (p.Ser33499Ala) c.100492T>G (p.Ser33498Ala) c.99925T>G (p.Ser33309Ala) c.97267T>G (p.Ser32423Ala) c.97186T>G (p.Ser32396Ala) c.78949T>G (p.Ser26317Ala) c.68803T>G (p.Ser22935Ala) | |
2 | g.178530561A>G | CA60953469 | TTN,TTN-AS1 | c.98350T>C (p.Ser32784Pro) c.79435T>C (p.Ser26479Pro) c.79234T>C (p.Ser26412Pro) c.78859T>C (p.Ser26287Pro) c.106054T>C (p.Ser35352Pro) c.101131T>C (p.Ser33711Pro) n.446+6925A>G n.220-5171A>G c.105151T>C (p.Ser35051Pro) c.79045T>C (p.Ser26349Pro) c.78904T>C (p.Ser26302Pro) c.104947T>C (p.Ser34983Pro) c.100345T>C (p.Ser33449Pro) c.100342T>C (p.Ser33448Pro) c.97384T>C (p.Ser32462Pro) c.79000T>C (p.Ser26334Pro) c.100495T>C (p.Ser33499Pro) c.100492T>C (p.Ser33498Pro) c.99925T>C (p.Ser33309Pro) c.97267T>C (p.Ser32423Pro) c.97186T>C (p.Ser32396Pro) c.78949T>C (p.Ser26317Pro) c.68803T>C (p.Ser22935Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530561A>T | CA349407133 | TTN,TTN-AS1 | c.98350T>A (p.Ser32784Thr) c.79435T>A (p.Ser26479Thr) c.79234T>A (p.Ser26412Thr) c.78859T>A (p.Ser26287Thr) c.106054T>A (p.Ser35352Thr) c.101131T>A (p.Ser33711Thr) n.446+6925A>T n.220-5171A>T c.105151T>A (p.Ser35051Thr) c.79045T>A (p.Ser26349Thr) c.78904T>A (p.Ser26302Thr) c.104947T>A (p.Ser34983Thr) c.100345T>A (p.Ser33449Thr) c.100342T>A (p.Ser33448Thr) c.97384T>A (p.Ser32462Thr) c.79000T>A (p.Ser26334Thr) c.100495T>A (p.Ser33499Thr) c.100492T>A (p.Ser33498Thr) c.99925T>A (p.Ser33309Thr) c.97267T>A (p.Ser32423Thr) c.97186T>A (p.Ser32396Thr) c.78949T>A (p.Ser26317Thr) c.68803T>A (p.Ser22935Thr) | dbSNP |
2 | g.178530561dup | CA1310514752 | TTN,TTN-AS1 | c.98350dup (p.Ser32784PhefsTer2) c.79435dup (p.Ser26479PhefsTer2) c.79234dup (p.Ser26412PhefsTer2) c.78859dup (p.Ser26287PhefsTer2) c.106054dup (p.Ser35352PhefsTer2) c.101131dup (p.Ser33711PhefsTer2) n.446+6925dup n.220-5171dup c.105151dup (p.Ser35051PhefsTer2) c.79045dup (p.Ser26349PhefsTer2) c.78904dup (p.Ser26302PhefsTer2) c.104947dup (p.Ser34983PhefsTer2) c.100345dup (p.Ser33449PhefsTer2) c.100342dup (p.Ser33448PhefsTer2) c.97384dup (p.Ser32462PhefsTer2) c.79000dup (p.Ser26334PhefsTer2) c.100495dup (p.Ser33499PhefsTer2) c.100492dup (p.Ser33498PhefsTer2) c.99925dup (p.Ser33309PhefsTer2) c.97267dup (p.Ser32423PhefsTer2) c.97186dup (p.Ser32396PhefsTer2) c.78949dup (p.Ser26317PhefsTer2) c.68803dup (p.Ser22935PhefsTer2) | dbSNP |
2 | g.178530562T>A | CA349407134 | TTN,TTN-AS1 | c.98349A>T (p.Glu32783Asp) c.79434A>T (p.Glu26478Asp) c.79233A>T (p.Glu26411Asp) c.78858A>T (p.Glu26286Asp) c.106053A>T (p.Glu35351Asp) c.101130A>T (p.Glu33710Asp) n.446+6926T>A n.220-5170T>A c.105150A>T (p.Glu35050Asp) c.79044A>T (p.Glu26348Asp) c.78903A>T (p.Glu26301Asp) c.104946A>T (p.Glu34982Asp) c.100344A>T (p.Glu33448Asp) c.100341A>T (p.Glu33447Asp) c.97383A>T (p.Glu32461Asp) c.78999A>T (p.Glu26333Asp) c.100494A>T (p.Glu33498Asp) c.100491A>T (p.Glu33497Asp) c.99924A>T (p.Glu33308Asp) c.97266A>T (p.Glu32422Asp) c.97185A>T (p.Glu32395Asp) c.78948A>T (p.Glu26316Asp) c.68802A>T (p.Glu22934Asp) | |
2 | g.178530562T>C | CA430235226 | TTN,TTN-AS1 | c.98349A>G (p.Glu32783=) c.79434A>G (p.Glu26478=) c.79233A>G (p.Glu26411=) c.78858A>G (p.Glu26286=) c.106053A>G (p.Glu35351=) c.101130A>G (p.Glu33710=) n.446+6926T>C n.220-5170T>C c.105150A>G (p.Glu35050=) c.79044A>G (p.Glu26348=) c.78903A>G (p.Glu26301=) c.104946A>G (p.Glu34982=) c.100344A>G (p.Glu33448=) c.100341A>G (p.Glu33447=) c.97383A>G (p.Glu32461=) c.78999A>G (p.Glu26333=) c.100494A>G (p.Glu33498=) c.100491A>G (p.Glu33497=) c.99924A>G (p.Glu33308=) c.97266A>G (p.Glu32422=) c.97185A>G (p.Glu32395=) c.78948A>G (p.Glu26316=) c.68802A>G (p.Glu22934=) | |
2 | g.178530562T>G | CA349407135 | TTN,TTN-AS1 | c.98349A>C (p.Glu32783Asp) c.79434A>C (p.Glu26478Asp) c.79233A>C (p.Glu26411Asp) c.78858A>C (p.Glu26286Asp) c.106053A>C (p.Glu35351Asp) c.101130A>C (p.Glu33710Asp) n.446+6926T>G n.220-5170T>G c.105150A>C (p.Glu35050Asp) c.79044A>C (p.Glu26348Asp) c.78903A>C (p.Glu26301Asp) c.104946A>C (p.Glu34982Asp) c.100344A>C (p.Glu33448Asp) c.100341A>C (p.Glu33447Asp) c.97383A>C (p.Glu32461Asp) c.78999A>C (p.Glu26333Asp) c.100494A>C (p.Glu33498Asp) c.100491A>C (p.Glu33497Asp) c.99924A>C (p.Glu33308Asp) c.97266A>C (p.Glu32422Asp) c.97185A>C (p.Glu32395Asp) c.78948A>C (p.Glu26316Asp) c.68802A>C (p.Glu22934Asp) | |
2 | g.178530563del | CA2017999286 | TTN,TTN-AS1 | c.98349del (p.Glu32783AspfsTer?) c.79434del (p.Glu26478AspfsTer?) c.79233del (p.Glu26411AspfsTer?) c.78858del (p.Glu26286AspfsTer?) c.106053del (p.Glu35351AspfsTer?) c.101130del (p.Glu33710AspfsTer?) n.446+6927del n.220-5169del c.105150del (p.Glu35050AspfsTer?) c.79044del (p.Glu26348AspfsTer?) c.78903del (p.Glu26301AspfsTer?) c.104946del (p.Glu34982AspfsTer?) c.100344del (p.Glu33448AspfsTer?) c.100341del (p.Glu33447AspfsTer?) c.97383del (p.Glu32461AspfsTer?) c.78999del (p.Glu26333AspfsTer?) c.100494del (p.Glu33498AspfsTer?) c.100491del (p.Glu33497AspfsTer?) c.99924del (p.Glu33308AspfsTer?) c.97266del (p.Glu32422AspfsTer?) c.97185del (p.Glu32395AspfsTer?) c.78948del (p.Glu26316AspfsTer?) c.68802del (p.Glu22934AspfsTer?) | |
2 | g.178530563T>A | CA349407138 | TTN,TTN-AS1 | c.98348A>T (p.Glu32783Val) c.79433A>T (p.Glu26478Val) c.79232A>T (p.Glu26411Val) c.78857A>T (p.Glu26286Val) c.106052A>T (p.Glu35351Val) c.101129A>T (p.Glu33710Val) n.446+6927T>A n.220-5169T>A c.105149A>T (p.Glu35050Val) c.79043A>T (p.Glu26348Val) c.78902A>T (p.Glu26301Val) c.104945A>T (p.Glu34982Val) c.100343A>T (p.Glu33448Val) c.100340A>T (p.Glu33447Val) c.97382A>T (p.Glu32461Val) c.78998A>T (p.Glu26333Val) c.100493A>T (p.Glu33498Val) c.100490A>T (p.Glu33497Val) c.99923A>T (p.Glu33308Val) c.97265A>T (p.Glu32422Val) c.97184A>T (p.Glu32395Val) c.78947A>T (p.Glu26316Val) c.68801A>T (p.Glu22934Val) | |
2 | g.178530563T>C | CA349407137 | TTN,TTN-AS1 | c.98348A>G (p.Glu32783Gly) c.79433A>G (p.Glu26478Gly) c.79232A>G (p.Glu26411Gly) c.78857A>G (p.Glu26286Gly) c.106052A>G (p.Glu35351Gly) c.101129A>G (p.Glu33710Gly) n.446+6927T>C n.220-5169T>C c.105149A>G (p.Glu35050Gly) c.79043A>G (p.Glu26348Gly) c.78902A>G (p.Glu26301Gly) c.104945A>G (p.Glu34982Gly) c.100343A>G (p.Glu33448Gly) c.100340A>G (p.Glu33447Gly) c.97382A>G (p.Glu32461Gly) c.78998A>G (p.Glu26333Gly) c.100493A>G (p.Glu33498Gly) c.100490A>G (p.Glu33497Gly) c.99923A>G (p.Glu33308Gly) c.97265A>G (p.Glu32422Gly) c.97184A>G (p.Glu32395Gly) c.78947A>G (p.Glu26316Gly) c.68801A>G (p.Glu22934Gly) | |
2 | g.178530563T>G | CA349407136 | TTN,TTN-AS1 | c.98348A>C (p.Glu32783Ala) c.79433A>C (p.Glu26478Ala) c.79232A>C (p.Glu26411Ala) c.78857A>C (p.Glu26286Ala) c.106052A>C (p.Glu35351Ala) c.101129A>C (p.Glu33710Ala) n.446+6927T>G n.220-5169T>G c.105149A>C (p.Glu35050Ala) c.79043A>C (p.Glu26348Ala) c.78902A>C (p.Glu26301Ala) c.104945A>C (p.Glu34982Ala) c.100343A>C (p.Glu33448Ala) c.100340A>C (p.Glu33447Ala) c.97382A>C (p.Glu32461Ala) c.78998A>C (p.Glu26333Ala) c.100493A>C (p.Glu33498Ala) c.100490A>C (p.Glu33497Ala) c.99923A>C (p.Glu33308Ala) c.97265A>C (p.Glu32422Ala) c.97184A>C (p.Glu32395Ala) c.78947A>C (p.Glu26316Ala) c.68801A>C (p.Glu22934Ala) | |
2 | g.178530564del | CA2586970742 | TTN,TTN-AS1 | c.98347del (p.Glu32783AsnfsTer?) c.79432del (p.Glu26478AsnfsTer?) c.79231del (p.Glu26411AsnfsTer?) c.78856del (p.Glu26286AsnfsTer?) c.106051del (p.Glu35351AsnfsTer?) c.101128del (p.Glu33710AsnfsTer?) n.446+6928del n.220-5168del c.105148del (p.Glu35050AsnfsTer?) c.79042del (p.Glu26348AsnfsTer?) c.78901del (p.Glu26301AsnfsTer?) c.104944del (p.Glu34982AsnfsTer?) c.100342del (p.Glu33448AsnfsTer?) c.100339del (p.Glu33447AsnfsTer?) c.97381del (p.Glu32461AsnfsTer?) c.78997del (p.Glu26333AsnfsTer?) c.100492del (p.Glu33498AsnfsTer?) c.100489del (p.Glu33497AsnfsTer?) c.99922del (p.Glu33308AsnfsTer?) c.97264del (p.Glu32422AsnfsTer?) c.97183del (p.Glu32395AsnfsTer?) c.78946del (p.Glu26316AsnfsTer?) c.68800del (p.Glu22934AsnfsTer?) | |
2 | g.178530564C>A | CA349407139 | TTN,TTN-AS1 | c.98347G>T (p.Glu32783Ter) c.79432G>T (p.Glu26478Ter) c.79231G>T (p.Glu26411Ter) c.78856G>T (p.Glu26286Ter) c.106051G>T (p.Glu35351Ter) c.101128G>T (p.Glu33710Ter) n.446+6928C>A n.220-5168C>A c.105148G>T (p.Glu35050Ter) c.79042G>T (p.Glu26348Ter) c.78901G>T (p.Glu26301Ter) c.104944G>T (p.Glu34982Ter) c.100342G>T (p.Glu33448Ter) c.100339G>T (p.Glu33447Ter) c.97381G>T (p.Glu32461Ter) c.78997G>T (p.Glu26333Ter) c.100492G>T (p.Glu33498Ter) c.100489G>T (p.Glu33497Ter) c.99922G>T (p.Glu33308Ter) c.97264G>T (p.Glu32422Ter) c.97183G>T (p.Glu32395Ter) c.78946G>T (p.Glu26316Ter) c.68800G>T (p.Glu22934Ter) | |
2 | g.178530564C= | CA1310514755 | TTN,TTN-AS1 | c.98347G= (p.Glu32783=) c.79432G= (p.Glu26478=) c.79231G= (p.Glu26411=) c.78856G= (p.Glu26286=) c.106051G= (p.Glu35351=) c.101128G= (p.Glu33710=) n.446+6928C= n.220-5168C= c.105148G= (p.Glu35050=) c.79042G= (p.Glu26348=) c.78901G= (p.Glu26301=) c.104944G= (p.Glu34982=) c.100342G= (p.Glu33448=) c.100339G= (p.Glu33447=) c.97381G= (p.Glu32461=) c.78997G= (p.Glu26333=) c.100492G= (p.Glu33498=) c.100489G= (p.Glu33497=) c.99922G= (p.Glu33308=) c.97264G= (p.Glu32422=) c.97183G= (p.Glu32395=) c.78946G= (p.Glu26316=) c.68800G= (p.Glu22934=) | |
2 | g.178530564C>G | CA349407140 | TTN,TTN-AS1 | c.98347G>C (p.Glu32783Gln) c.79432G>C (p.Glu26478Gln) c.79231G>C (p.Glu26411Gln) c.78856G>C (p.Glu26286Gln) c.106051G>C (p.Glu35351Gln) c.101128G>C (p.Glu33710Gln) n.446+6928C>G n.220-5168C>G c.105148G>C (p.Glu35050Gln) c.79042G>C (p.Glu26348Gln) c.78901G>C (p.Glu26301Gln) c.104944G>C (p.Glu34982Gln) c.100342G>C (p.Glu33448Gln) c.100339G>C (p.Glu33447Gln) c.97381G>C (p.Glu32461Gln) c.78997G>C (p.Glu26333Gln) c.100492G>C (p.Glu33498Gln) c.100489G>C (p.Glu33497Gln) c.99922G>C (p.Glu33308Gln) c.97264G>C (p.Glu32422Gln) c.97183G>C (p.Glu32395Gln) c.78946G>C (p.Glu26316Gln) c.68800G>C (p.Glu22934Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530564C>T | CA349407141 | TTN,TTN-AS1 | c.98347G>A (p.Glu32783Lys) c.79432G>A (p.Glu26478Lys) c.79231G>A (p.Glu26411Lys) c.78856G>A (p.Glu26286Lys) c.106051G>A (p.Glu35351Lys) c.101128G>A (p.Glu33710Lys) n.446+6928C>T n.220-5168C>T c.105148G>A (p.Glu35050Lys) c.79042G>A (p.Glu26348Lys) c.78901G>A (p.Glu26301Lys) c.104944G>A (p.Glu34982Lys) c.100342G>A (p.Glu33448Lys) c.100339G>A (p.Glu33447Lys) c.97381G>A (p.Glu32461Lys) c.78997G>A (p.Glu26333Lys) c.100492G>A (p.Glu33498Lys) c.100489G>A (p.Glu33497Lys) c.99922G>A (p.Glu33308Lys) c.97264G>A (p.Glu32422Lys) c.97183G>A (p.Glu32395Lys) c.78946G>A (p.Glu26316Lys) c.68800G>A (p.Glu22934Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530565del | CA2586970743 | TTN,TTN-AS1 | c.98346del (p.Glu32783AsnfsTer?) c.79431del (p.Glu26478AsnfsTer?) c.79230del (p.Glu26411AsnfsTer?) c.78855del (p.Glu26286AsnfsTer?) c.106050del (p.Glu35351AsnfsTer?) c.101127del (p.Glu33710AsnfsTer?) n.446+6929del n.220-5167del c.105147del (p.Glu35050AsnfsTer?) c.79041del (p.Glu26348AsnfsTer?) c.78900del (p.Glu26301AsnfsTer?) c.104943del (p.Glu34982AsnfsTer?) c.100341del (p.Glu33448AsnfsTer?) c.100338del (p.Glu33447AsnfsTer?) c.97380del (p.Glu32461AsnfsTer?) c.78996del (p.Glu26333AsnfsTer?) c.100491del (p.Glu33498AsnfsTer?) c.100488del (p.Glu33497AsnfsTer?) c.99921del (p.Glu33308AsnfsTer?) c.97263del (p.Glu32422AsnfsTer?) c.97182del (p.Glu32395AsnfsTer?) c.78945del (p.Glu26316AsnfsTer?) c.68799del (p.Glu22934AsnfsTer?) | |
2 | g.178530565A= | CA1310514758 | TTN,TTN-AS1 | c.98346T= (p.Thr32782=) c.79431T= (p.Thr26477=) c.79230T= (p.Thr26410=) c.78855T= (p.Thr26285=) c.106050T= (p.Thr35350=) c.101127T= (p.Thr33709=) n.446+6929A= n.220-5167A= c.105147T= (p.Thr35049=) c.79041T= (p.Thr26347=) c.78900T= (p.Thr26300=) c.104943T= (p.Thr34981=) c.100341T= (p.Thr33447=) c.100338T= (p.Thr33446=) c.97380T= (p.Thr32460=) c.78996T= (p.Thr26332=) c.100491T= (p.Thr33497=) c.100488T= (p.Thr33496=) c.99921T= (p.Thr33307=) c.97263T= (p.Thr32421=) c.97182T= (p.Thr32394=) c.78945T= (p.Thr26315=) c.68799T= (p.Thr22933=) | |
2 | g.178530565A>C | CA430235408 | TTN,TTN-AS1 | c.98346T>G (p.Thr32782=) c.79431T>G (p.Thr26477=) c.79230T>G (p.Thr26410=) c.78855T>G (p.Thr26285=) c.106050T>G (p.Thr35350=) c.101127T>G (p.Thr33709=) n.446+6929A>C n.220-5167A>C c.105147T>G (p.Thr35049=) c.79041T>G (p.Thr26347=) c.78900T>G (p.Thr26300=) c.104943T>G (p.Thr34981=) c.100341T>G (p.Thr33447=) c.100338T>G (p.Thr33446=) c.97380T>G (p.Thr32460=) c.78996T>G (p.Thr26332=) c.100491T>G (p.Thr33497=) c.100488T>G (p.Thr33496=) c.99921T>G (p.Thr33307=) c.97263T>G (p.Thr32421=) c.97182T>G (p.Thr32394=) c.78945T>G (p.Thr26315=) c.68799T>G (p.Thr22933=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530565A>G | CA430235409 | TTN,TTN-AS1 | c.98346T>C (p.Thr32782=) c.79431T>C (p.Thr26477=) c.79230T>C (p.Thr26410=) c.78855T>C (p.Thr26285=) c.106050T>C (p.Thr35350=) c.101127T>C (p.Thr33709=) n.446+6929A>G n.220-5167A>G c.105147T>C (p.Thr35049=) c.79041T>C (p.Thr26347=) c.78900T>C (p.Thr26300=) c.104943T>C (p.Thr34981=) c.100341T>C (p.Thr33447=) c.100338T>C (p.Thr33446=) c.97380T>C (p.Thr32460=) c.78996T>C (p.Thr26332=) c.100491T>C (p.Thr33497=) c.100488T>C (p.Thr33496=) c.99921T>C (p.Thr33307=) c.97263T>C (p.Thr32421=) c.97182T>C (p.Thr32394=) c.78945T>C (p.Thr26315=) c.68799T>C (p.Thr22933=) | dbSNP |
2 | g.178530565A>T | CA430235410 | TTN,TTN-AS1 | c.98346T>A (p.Thr32782=) c.79431T>A (p.Thr26477=) c.79230T>A (p.Thr26410=) c.78855T>A (p.Thr26285=) c.106050T>A (p.Thr35350=) c.101127T>A (p.Thr33709=) n.446+6929A>T n.220-5167A>T c.105147T>A (p.Thr35049=) c.79041T>A (p.Thr26347=) c.78900T>A (p.Thr26300=) c.104943T>A (p.Thr34981=) c.100341T>A (p.Thr33447=) c.100338T>A (p.Thr33446=) c.97380T>A (p.Thr32460=) c.78996T>A (p.Thr26332=) c.100491T>A (p.Thr33497=) c.100488T>A (p.Thr33496=) c.99921T>A (p.Thr33307=) c.97263T>A (p.Thr32421=) c.97182T>A (p.Thr32394=) c.78945T>A (p.Thr26315=) c.68799T>A (p.Thr22933=) | |
2 | g.178530565_178530566delinsAG | CA1310514757 | TTN,TTN-AS1 | c.98345_98346delinsCT (p.Thr32782=) c.79430_79431delinsCT (p.Thr26477=) c.79229_79230delinsCT (p.Thr26410=) c.78854_78855delinsCT (p.Thr26285=) c.106049_106050delinsCT (p.Thr35350=) c.101126_101127delinsCT (p.Thr33709=) n.446+6929_446+6930delinsAG n.220-5167_220-5166delinsAG c.105146_105147delinsCT (p.Thr35049=) c.79040_79041delinsCT (p.Thr26347=) c.78899_78900delinsCT (p.Thr26300=) c.104942_104943delinsCT (p.Thr34981=) c.100340_100341delinsCT (p.Thr33447=) c.100337_100338delinsCT (p.Thr33446=) c.97379_97380delinsCT (p.Thr32460=) c.78995_78996delinsCT (p.Thr26332=) c.100490_100491delinsCT (p.Thr33497=) c.100487_100488delinsCT (p.Thr33496=) c.99920_99921delinsCT (p.Thr33307=) c.97262_97263delinsCT (p.Thr32421=) c.97181_97182delinsCT (p.Thr32394=) c.78944_78945delinsCT (p.Thr26315=) c.68798_68799delinsCT (p.Thr22933=) | |
2 | g.178530566del | CA658795975 | TTN,TTN-AS1 | c.98345del (p.Thr32782MetfsTer?) c.79430del (p.Thr26477MetfsTer?) c.79229del (p.Thr26410MetfsTer?) c.78854del (p.Thr26285MetfsTer?) c.106049del (p.Thr35350MetfsTer?) c.101126del (p.Thr33709MetfsTer?) n.446+6930del n.220-5166del c.105146del (p.Thr35049MetfsTer?) c.79040del (p.Thr26347MetfsTer?) c.78899del (p.Thr26300MetfsTer?) c.104942del (p.Thr34981MetfsTer?) c.100340del (p.Thr33447MetfsTer?) c.100337del (p.Thr33446MetfsTer?) c.97379del (p.Thr32460MetfsTer?) c.78995del (p.Thr26332MetfsTer?) c.100490del (p.Thr33497MetfsTer?) c.100487del (p.Thr33496MetfsTer?) c.99920del (p.Thr33307MetfsTer?) c.97262del (p.Thr32421MetfsTer?) c.97181del (p.Thr32394MetfsTer?) c.78944del (p.Thr26315MetfsTer?) c.68798del (p.Thr22933MetfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.178530566G>A | CA349407142 | TTN,TTN-AS1 | c.98345C>T (p.Thr32782Ile) c.79430C>T (p.Thr26477Ile) c.79229C>T (p.Thr26410Ile) c.78854C>T (p.Thr26285Ile) c.106049C>T (p.Thr35350Ile) c.101126C>T (p.Thr33709Ile) n.446+6930G>A n.220-5166G>A c.105146C>T (p.Thr35049Ile) c.79040C>T (p.Thr26347Ile) c.78899C>T (p.Thr26300Ile) c.104942C>T (p.Thr34981Ile) c.100340C>T (p.Thr33447Ile) c.100337C>T (p.Thr33446Ile) c.97379C>T (p.Thr32460Ile) c.78995C>T (p.Thr26332Ile) c.100490C>T (p.Thr33497Ile) c.100487C>T (p.Thr33496Ile) c.99920C>T (p.Thr33307Ile) c.97262C>T (p.Thr32421Ile) c.97181C>T (p.Thr32394Ile) c.78944C>T (p.Thr26315Ile) c.68798C>T (p.Thr22933Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.178530566G>C | CA349407143 | TTN,TTN-AS1 | c.98345C>G (p.Thr32782Ser) c.79430C>G (p.Thr26477Ser) c.79229C>G (p.Thr26410Ser) c.78854C>G (p.Thr26285Ser) c.106049C>G (p.Thr35350Ser) c.101126C>G (p.Thr33709Ser) n.446+6930G>C n.220-5166G>C c.105146C>G (p.Thr35049Ser) c.79040C>G (p.Thr26347Ser) c.78899C>G (p.Thr26300Ser) c.104942C>G (p.Thr34981Ser) c.100340C>G (p.Thr33447Ser) c.100337C>G (p.Thr33446Ser) c.97379C>G (p.Thr32460Ser) c.78995C>G (p.Thr26332Ser) c.100490C>G (p.Thr33497Ser) c.100487C>G (p.Thr33496Ser) c.99920C>G (p.Thr33307Ser) c.97262C>G (p.Thr32421Ser) c.97181C>G (p.Thr32394Ser) c.78944C>G (p.Thr26315Ser) c.68798C>G (p.Thr22933Ser) | |
2 | g.178530566G= | CA1310514761 | TTN,TTN-AS1 | c.98345C= (p.Thr32782=) c.79430C= (p.Thr26477=) c.79229C= (p.Thr26410=) c.78854C= (p.Thr26285=) c.106049C= (p.Thr35350=) c.101126C= (p.Thr33709=) n.446+6930G= n.220-5166G= c.105146C= (p.Thr35049=) c.79040C= (p.Thr26347=) c.78899C= (p.Thr26300=) c.104942C= (p.Thr34981=) c.100340C= (p.Thr33447=) c.100337C= (p.Thr33446=) c.97379C= (p.Thr32460=) c.78995C= (p.Thr26332=) c.100490C= (p.Thr33497=) c.100487C= (p.Thr33496=) c.99920C= (p.Thr33307=) c.97262C= (p.Thr32421=) c.97181C= (p.Thr32394=) c.78944C= (p.Thr26315=) c.68798C= (p.Thr22933=) | |
2 | g.178530566G>T | CA349407144 | TTN,TTN-AS1 | c.98345C>A (p.Thr32782Asn) c.79430C>A (p.Thr26477Asn) c.79229C>A (p.Thr26410Asn) c.78854C>A (p.Thr26285Asn) c.106049C>A (p.Thr35350Asn) c.101126C>A (p.Thr33709Asn) n.446+6930G>T n.220-5166G>T c.105146C>A (p.Thr35049Asn) c.79040C>A (p.Thr26347Asn) c.78899C>A (p.Thr26300Asn) c.104942C>A (p.Thr34981Asn) c.100340C>A (p.Thr33447Asn) c.100337C>A (p.Thr33446Asn) c.97379C>A (p.Thr32460Asn) c.78995C>A (p.Thr26332Asn) c.100490C>A (p.Thr33497Asn) c.100487C>A (p.Thr33496Asn) c.99920C>A (p.Thr33307Asn) c.97262C>A (p.Thr32421Asn) c.97181C>A (p.Thr32394Asn) c.78944C>A (p.Thr26315Asn) c.68798C>A (p.Thr22933Asn) | |
2 | g.178530567T>A | CA349407145 | TTN,TTN-AS1 | c.98344A>T (p.Thr32782Ser) c.79429A>T (p.Thr26477Ser) c.79228A>T (p.Thr26410Ser) c.78853A>T (p.Thr26285Ser) c.106048A>T (p.Thr35350Ser) c.101125A>T (p.Thr33709Ser) n.446+6931T>A n.220-5165T>A c.105145A>T (p.Thr35049Ser) c.79039A>T (p.Thr26347Ser) c.78898A>T (p.Thr26300Ser) c.104941A>T (p.Thr34981Ser) c.100339A>T (p.Thr33447Ser) c.100336A>T (p.Thr33446Ser) c.97378A>T (p.Thr32460Ser) c.78994A>T (p.Thr26332Ser) c.100489A>T (p.Thr33497Ser) c.100486A>T (p.Thr33496Ser) c.99919A>T (p.Thr33307Ser) c.97261A>T (p.Thr32421Ser) c.97180A>T (p.Thr32394Ser) c.78943A>T (p.Thr26315Ser) c.68797A>T (p.Thr22933Ser) | |
2 | g.178530567T>C | CA349407147 | TTN,TTN-AS1 | c.98344A>G (p.Thr32782Ala) c.79429A>G (p.Thr26477Ala) c.79228A>G (p.Thr26410Ala) c.78853A>G (p.Thr26285Ala) c.106048A>G (p.Thr35350Ala) c.101125A>G (p.Thr33709Ala) n.446+6931T>C n.220-5165T>C c.105145A>G (p.Thr35049Ala) c.79039A>G (p.Thr26347Ala) c.78898A>G (p.Thr26300Ala) c.104941A>G (p.Thr34981Ala) c.100339A>G (p.Thr33447Ala) c.100336A>G (p.Thr33446Ala) c.97378A>G (p.Thr32460Ala) c.78994A>G (p.Thr26332Ala) c.100489A>G (p.Thr33497Ala) c.100486A>G (p.Thr33496Ala) c.99919A>G (p.Thr33307Ala) c.97261A>G (p.Thr32421Ala) c.97180A>G (p.Thr32394Ala) c.78943A>G (p.Thr26315Ala) c.68797A>G (p.Thr22933Ala) | |
2 | g.178530567T>G | CA349407146 | TTN,TTN-AS1 | c.98344A>C (p.Thr32782Pro) c.79429A>C (p.Thr26477Pro) c.79228A>C (p.Thr26410Pro) c.78853A>C (p.Thr26285Pro) c.106048A>C (p.Thr35350Pro) c.101125A>C (p.Thr33709Pro) n.446+6931T>G n.220-5165T>G c.105145A>C (p.Thr35049Pro) c.79039A>C (p.Thr26347Pro) c.78898A>C (p.Thr26300Pro) c.104941A>C (p.Thr34981Pro) c.100339A>C (p.Thr33447Pro) c.100336A>C (p.Thr33446Pro) c.97378A>C (p.Thr32460Pro) c.78994A>C (p.Thr26332Pro) c.100489A>C (p.Thr33497Pro) c.100486A>C (p.Thr33496Pro) c.99919A>C (p.Thr33307Pro) c.97261A>C (p.Thr32421Pro) c.97180A>C (p.Thr32394Pro) c.78943A>C (p.Thr26315Pro) c.68797A>C (p.Thr22933Pro) | |
2 | g.178530568G>A | CA430235418 | TTN,TTN-AS1 | c.98343C>T (p.Leu32781=) c.79428C>T (p.Leu26476=) c.79227C>T (p.Leu26409=) c.78852C>T (p.Leu26284=) c.106047C>T (p.Leu35349=) c.101124C>T (p.Leu33708=) n.446+6932G>A n.220-5164G>A c.105144C>T (p.Leu35048=) c.79038C>T (p.Leu26346=) c.78897C>T (p.Leu26299=) c.104940C>T (p.Leu34980=) c.100338C>T (p.Leu33446=) c.100335C>T (p.Leu33445=) c.97377C>T (p.Leu32459=) c.78993C>T (p.Leu26331=) c.100488C>T (p.Leu33496=) c.100485C>T (p.Leu33495=) c.99918C>T (p.Leu33306=) c.97260C>T (p.Leu32420=) c.97179C>T (p.Leu32393=) c.78942C>T (p.Leu26314=) c.68796C>T (p.Leu22932=) | |
2 | g.178530568G>C | CA430235420 | TTN,TTN-AS1 | c.98343C>G (p.Leu32781=) c.79428C>G (p.Leu26476=) c.79227C>G (p.Leu26409=) c.78852C>G (p.Leu26284=) c.106047C>G (p.Leu35349=) c.101124C>G (p.Leu33708=) n.446+6932G>C n.220-5164G>C c.105144C>G (p.Leu35048=) c.79038C>G (p.Leu26346=) c.78897C>G (p.Leu26299=) c.104940C>G (p.Leu34980=) c.100338C>G (p.Leu33446=) c.100335C>G (p.Leu33445=) c.97377C>G (p.Leu32459=) c.78993C>G (p.Leu26331=) c.100488C>G (p.Leu33496=) c.100485C>G (p.Leu33495=) c.99918C>G (p.Leu33306=) c.97260C>G (p.Leu32420=) c.97179C>G (p.Leu32393=) c.78942C>G (p.Leu26314=) c.68796C>G (p.Leu22932=) | |
2 | g.178530568G= | CA1310514762 | TTN,TTN-AS1 | c.98343C= (p.Leu32781=) c.79428C= (p.Leu26476=) c.79227C= (p.Leu26409=) c.78852C= (p.Leu26284=) c.106047C= (p.Leu35349=) c.101124C= (p.Leu33708=) n.446+6932G= n.220-5164G= c.105144C= (p.Leu35048=) c.79038C= (p.Leu26346=) c.78897C= (p.Leu26299=) c.104940C= (p.Leu34980=) c.100338C= (p.Leu33446=) c.100335C= (p.Leu33445=) c.97377C= (p.Leu32459=) c.78993C= (p.Leu26331=) c.100488C= (p.Leu33496=) c.100485C= (p.Leu33495=) c.99918C= (p.Leu33306=) c.97260C= (p.Leu32420=) c.97179C= (p.Leu32393=) c.78942C= (p.Leu26314=) c.68796C= (p.Leu22932=) | |
2 | g.178530568G>T | CA1985171 | TTN,TTN-AS1 | c.98343C>A (p.Leu32781=) c.79428C>A (p.Leu26476=) c.79227C>A (p.Leu26409=) c.78852C>A (p.Leu26284=) c.106047C>A (p.Leu35349=) c.101124C>A (p.Leu33708=) n.446+6932G>T n.220-5164G>T c.105144C>A (p.Leu35048=) c.79038C>A (p.Leu26346=) c.78897C>A (p.Leu26299=) c.104940C>A (p.Leu34980=) c.100338C>A (p.Leu33446=) c.100335C>A (p.Leu33445=) c.97377C>A (p.Leu32459=) c.78993C>A (p.Leu26331=) c.100488C>A (p.Leu33496=) c.100485C>A (p.Leu33495=) c.99918C>A (p.Leu33306=) c.97260C>A (p.Leu32420=) c.97179C>A (p.Leu32393=) c.78942C>A (p.Leu26314=) c.68796C>A (p.Leu22932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530569A>C | CA349407148 | TTN,TTN-AS1 | c.98342T>G (p.Leu32781Arg) c.79427T>G (p.Leu26476Arg) c.79226T>G (p.Leu26409Arg) c.78851T>G (p.Leu26284Arg) c.106046T>G (p.Leu35349Arg) c.101123T>G (p.Leu33708Arg) n.446+6933A>C n.220-5163A>C c.105143T>G (p.Leu35048Arg) c.79037T>G (p.Leu26346Arg) c.78896T>G (p.Leu26299Arg) c.104939T>G (p.Leu34980Arg) c.100337T>G (p.Leu33446Arg) c.100334T>G (p.Leu33445Arg) c.97376T>G (p.Leu32459Arg) c.78992T>G (p.Leu26331Arg) c.100487T>G (p.Leu33496Arg) c.100484T>G (p.Leu33495Arg) c.99917T>G (p.Leu33306Arg) c.97259T>G (p.Leu32420Arg) c.97178T>G (p.Leu32393Arg) c.78941T>G (p.Leu26314Arg) c.68795T>G (p.Leu22932Arg) | |
2 | g.178530569A>G | CA349407149 | TTN,TTN-AS1 | c.98342T>C (p.Leu32781Pro) c.79427T>C (p.Leu26476Pro) c.79226T>C (p.Leu26409Pro) c.78851T>C (p.Leu26284Pro) c.106046T>C (p.Leu35349Pro) c.101123T>C (p.Leu33708Pro) n.446+6933A>G n.220-5163A>G c.105143T>C (p.Leu35048Pro) c.79037T>C (p.Leu26346Pro) c.78896T>C (p.Leu26299Pro) c.104939T>C (p.Leu34980Pro) c.100337T>C (p.Leu33446Pro) c.100334T>C (p.Leu33445Pro) c.97376T>C (p.Leu32459Pro) c.78992T>C (p.Leu26331Pro) c.100487T>C (p.Leu33496Pro) c.100484T>C (p.Leu33495Pro) c.99917T>C (p.Leu33306Pro) c.97259T>C (p.Leu32420Pro) c.97178T>C (p.Leu32393Pro) c.78941T>C (p.Leu26314Pro) c.68795T>C (p.Leu22932Pro) | ClinVar |
2 | g.178530569A>T | CA349407150 | TTN,TTN-AS1 | c.98342T>A (p.Leu32781His) c.79427T>A (p.Leu26476His) c.79226T>A (p.Leu26409His) c.78851T>A (p.Leu26284His) c.106046T>A (p.Leu35349His) c.101123T>A (p.Leu33708His) n.446+6933A>T n.220-5163A>T c.105143T>A (p.Leu35048His) c.79037T>A (p.Leu26346His) c.78896T>A (p.Leu26299His) c.104939T>A (p.Leu34980His) c.100337T>A (p.Leu33446His) c.100334T>A (p.Leu33445His) c.97376T>A (p.Leu32459His) c.78992T>A (p.Leu26331His) c.100487T>A (p.Leu33496His) c.100484T>A (p.Leu33495His) c.99917T>A (p.Leu33306His) c.97259T>A (p.Leu32420His) c.97178T>A (p.Leu32393His) c.78941T>A (p.Leu26314His) c.68795T>A (p.Leu22932His) | |
2 | g.178530570G>A | CA349407151 | TTN,TTN-AS1 | c.98341C>T (p.Leu32781Phe) c.79426C>T (p.Leu26476Phe) c.79225C>T (p.Leu26409Phe) c.78850C>T (p.Leu26284Phe) c.106045C>T (p.Leu35349Phe) c.101122C>T (p.Leu33708Phe) n.446+6934G>A n.220-5162G>A c.105142C>T (p.Leu35048Phe) c.79036C>T (p.Leu26346Phe) c.78895C>T (p.Leu26299Phe) c.104938C>T (p.Leu34980Phe) c.100336C>T (p.Leu33446Phe) c.100333C>T (p.Leu33445Phe) c.97375C>T (p.Leu32459Phe) c.78991C>T (p.Leu26331Phe) c.100486C>T (p.Leu33496Phe) c.100483C>T (p.Leu33495Phe) c.99916C>T (p.Leu33306Phe) c.97258C>T (p.Leu32420Phe) c.97177C>T (p.Leu32393Phe) c.78940C>T (p.Leu26314Phe) c.68794C>T (p.Leu22932Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530570G>C | CA349407152 | TTN,TTN-AS1 | c.98341C>G (p.Leu32781Val) c.79426C>G (p.Leu26476Val) c.79225C>G (p.Leu26409Val) c.78850C>G (p.Leu26284Val) c.106045C>G (p.Leu35349Val) c.101122C>G (p.Leu33708Val) n.446+6934G>C n.220-5162G>C c.105142C>G (p.Leu35048Val) c.79036C>G (p.Leu26346Val) c.78895C>G (p.Leu26299Val) c.104938C>G (p.Leu34980Val) c.100336C>G (p.Leu33446Val) c.100333C>G (p.Leu33445Val) c.97375C>G (p.Leu32459Val) c.78991C>G (p.Leu26331Val) c.100486C>G (p.Leu33496Val) c.100483C>G (p.Leu33495Val) c.99916C>G (p.Leu33306Val) c.97258C>G (p.Leu32420Val) c.97177C>G (p.Leu32393Val) c.78940C>G (p.Leu26314Val) c.68794C>G (p.Leu22932Val) | |
2 | g.178530570G= | CA1310514765 | TTN,TTN-AS1 | c.98341C= (p.Leu32781=) c.79426C= (p.Leu26476=) c.79225C= (p.Leu26409=) c.78850C= (p.Leu26284=) c.106045C= (p.Leu35349=) c.101122C= (p.Leu33708=) n.446+6934G= n.220-5162G= c.105142C= (p.Leu35048=) c.79036C= (p.Leu26346=) c.78895C= (p.Leu26299=) c.104938C= (p.Leu34980=) c.100336C= (p.Leu33446=) c.100333C= (p.Leu33445=) c.97375C= (p.Leu32459=) c.78991C= (p.Leu26331=) c.100486C= (p.Leu33496=) c.100483C= (p.Leu33495=) c.99916C= (p.Leu33306=) c.97258C= (p.Leu32420=) c.97177C= (p.Leu32393=) c.78940C= (p.Leu26314=) c.68794C= (p.Leu22932=) | |
2 | g.178530570G>T | CA349407153 | TTN,TTN-AS1 | c.98341C>A (p.Leu32781Ile) c.79426C>A (p.Leu26476Ile) c.79225C>A (p.Leu26409Ile) c.78850C>A (p.Leu26284Ile) c.106045C>A (p.Leu35349Ile) c.101122C>A (p.Leu33708Ile) n.446+6934G>T n.220-5162G>T c.105142C>A (p.Leu35048Ile) c.79036C>A (p.Leu26346Ile) c.78895C>A (p.Leu26299Ile) c.104938C>A (p.Leu34980Ile) c.100336C>A (p.Leu33446Ile) c.100333C>A (p.Leu33445Ile) c.97375C>A (p.Leu32459Ile) c.78991C>A (p.Leu26331Ile) c.100486C>A (p.Leu33496Ile) c.100483C>A (p.Leu33495Ile) c.99916C>A (p.Leu33306Ile) c.97258C>A (p.Leu32420Ile) c.97177C>A (p.Leu32393Ile) c.78940C>A (p.Leu26314Ile) c.68794C>A (p.Leu22932Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530571G>A | CA1985173 | TTN,TTN-AS1 | c.98340C>T (p.Asn32780=) c.79425C>T (p.Asn26475=) c.79224C>T (p.Asn26408=) c.78849C>T (p.Asn26283=) c.106044C>T (p.Asn35348=) c.101121C>T (p.Asn33707=) n.446+6935G>A n.220-5161G>A c.105141C>T (p.Asn35047=) c.79035C>T (p.Asn26345=) c.78894C>T (p.Asn26298=) c.104937C>T (p.Asn34979=) c.100335C>T (p.Asn33445=) c.100332C>T (p.Asn33444=) c.97374C>T (p.Asn32458=) c.78990C>T (p.Asn26330=) c.100485C>T (p.Asn33495=) c.100482C>T (p.Asn33494=) c.99915C>T (p.Asn33305=) c.97257C>T (p.Asn32419=) c.97176C>T (p.Asn32392=) c.78939C>T (p.Asn26313=) c.68793C>T (p.Asn22931=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530571G>C | CA349407154 | TTN,TTN-AS1 | c.98340C>G (p.Asn32780Lys) c.79425C>G (p.Asn26475Lys) c.79224C>G (p.Asn26408Lys) c.78849C>G (p.Asn26283Lys) c.106044C>G (p.Asn35348Lys) c.101121C>G (p.Asn33707Lys) n.446+6935G>C n.220-5161G>C c.105141C>G (p.Asn35047Lys) c.79035C>G (p.Asn26345Lys) c.78894C>G (p.Asn26298Lys) c.104937C>G (p.Asn34979Lys) c.100335C>G (p.Asn33445Lys) c.100332C>G (p.Asn33444Lys) c.97374C>G (p.Asn32458Lys) c.78990C>G (p.Asn26330Lys) c.100485C>G (p.Asn33495Lys) c.100482C>G (p.Asn33494Lys) c.99915C>G (p.Asn33305Lys) c.97257C>G (p.Asn32419Lys) c.97176C>G (p.Asn32392Lys) c.78939C>G (p.Asn26313Lys) c.68793C>G (p.Asn22931Lys) | |
2 | g.178530571G= | CA1310514767 | TTN,TTN-AS1 | c.98340C= (p.Asn32780=) c.79425C= (p.Asn26475=) c.79224C= (p.Asn26408=) c.78849C= (p.Asn26283=) c.106044C= (p.Asn35348=) c.101121C= (p.Asn33707=) n.446+6935G= n.220-5161G= c.105141C= (p.Asn35047=) c.79035C= (p.Asn26345=) c.78894C= (p.Asn26298=) c.104937C= (p.Asn34979=) c.100335C= (p.Asn33445=) c.100332C= (p.Asn33444=) c.97374C= (p.Asn32458=) c.78990C= (p.Asn26330=) c.100485C= (p.Asn33495=) c.100482C= (p.Asn33494=) c.99915C= (p.Asn33305=) c.97257C= (p.Asn32419=) c.97176C= (p.Asn32392=) c.78939C= (p.Asn26313=) c.68793C= (p.Asn22931=) | |
2 | g.178530571G>T | CA1985172 | TTN,TTN-AS1 | c.98340C>A (p.Asn32780Lys) c.79425C>A (p.Asn26475Lys) c.79224C>A (p.Asn26408Lys) c.78849C>A (p.Asn26283Lys) c.106044C>A (p.Asn35348Lys) c.101121C>A (p.Asn33707Lys) n.446+6935G>T n.220-5161G>T c.105141C>A (p.Asn35047Lys) c.79035C>A (p.Asn26345Lys) c.78894C>A (p.Asn26298Lys) c.104937C>A (p.Asn34979Lys) c.100335C>A (p.Asn33445Lys) c.100332C>A (p.Asn33444Lys) c.97374C>A (p.Asn32458Lys) c.78990C>A (p.Asn26330Lys) c.100485C>A (p.Asn33495Lys) c.100482C>A (p.Asn33494Lys) c.99915C>A (p.Asn33305Lys) c.97257C>A (p.Asn32419Lys) c.97176C>A (p.Asn32392Lys) c.78939C>A (p.Asn26313Lys) c.68793C>A (p.Asn22931Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530572T>A | CA349407157 | TTN,TTN-AS1 | c.98339A>T (p.Asn32780Ile) c.79424A>T (p.Asn26475Ile) c.79223A>T (p.Asn26408Ile) c.78848A>T (p.Asn26283Ile) c.106043A>T (p.Asn35348Ile) c.101120A>T (p.Asn33707Ile) n.446+6936T>A n.220-5160T>A c.105140A>T (p.Asn35047Ile) c.79034A>T (p.Asn26345Ile) c.78893A>T (p.Asn26298Ile) c.104936A>T (p.Asn34979Ile) c.100334A>T (p.Asn33445Ile) c.100331A>T (p.Asn33444Ile) c.97373A>T (p.Asn32458Ile) c.78989A>T (p.Asn26330Ile) c.100484A>T (p.Asn33495Ile) c.100481A>T (p.Asn33494Ile) c.99914A>T (p.Asn33305Ile) c.97256A>T (p.Asn32419Ile) c.97175A>T (p.Asn32392Ile) c.78938A>T (p.Asn26313Ile) c.68792A>T (p.Asn22931Ile) | |
2 | g.178530572T>C | CA349407156 | TTN,TTN-AS1 | c.98339A>G (p.Asn32780Ser) c.79424A>G (p.Asn26475Ser) c.79223A>G (p.Asn26408Ser) c.78848A>G (p.Asn26283Ser) c.106043A>G (p.Asn35348Ser) c.101120A>G (p.Asn33707Ser) n.446+6936T>C n.220-5160T>C c.105140A>G (p.Asn35047Ser) c.79034A>G (p.Asn26345Ser) c.78893A>G (p.Asn26298Ser) c.104936A>G (p.Asn34979Ser) c.100334A>G (p.Asn33445Ser) c.100331A>G (p.Asn33444Ser) c.97373A>G (p.Asn32458Ser) c.78989A>G (p.Asn26330Ser) c.100484A>G (p.Asn33495Ser) c.100481A>G (p.Asn33494Ser) c.99914A>G (p.Asn33305Ser) c.97256A>G (p.Asn32419Ser) c.97175A>G (p.Asn32392Ser) c.78938A>G (p.Asn26313Ser) c.68792A>G (p.Asn22931Ser) | ClinVar |
2 | g.178530572T>G | CA349407155 | TTN,TTN-AS1 | c.98339A>C (p.Asn32780Thr) c.79424A>C (p.Asn26475Thr) c.79223A>C (p.Asn26408Thr) c.78848A>C (p.Asn26283Thr) c.106043A>C (p.Asn35348Thr) c.101120A>C (p.Asn33707Thr) n.446+6936T>G n.220-5160T>G c.105140A>C (p.Asn35047Thr) c.79034A>C (p.Asn26345Thr) c.78893A>C (p.Asn26298Thr) c.104936A>C (p.Asn34979Thr) c.100334A>C (p.Asn33445Thr) c.100331A>C (p.Asn33444Thr) c.97373A>C (p.Asn32458Thr) c.78989A>C (p.Asn26330Thr) c.100484A>C (p.Asn33495Thr) c.100481A>C (p.Asn33494Thr) c.99914A>C (p.Asn33305Thr) c.97256A>C (p.Asn32419Thr) c.97175A>C (p.Asn32392Thr) c.78938A>C (p.Asn26313Thr) c.68792A>C (p.Asn22931Thr) | ClinVar |
2 | g.178530573T>A | CA349407158 | TTN,TTN-AS1 | c.98338A>T (p.Asn32780Tyr) c.79423A>T (p.Asn26475Tyr) c.79222A>T (p.Asn26408Tyr) c.78847A>T (p.Asn26283Tyr) c.106042A>T (p.Asn35348Tyr) c.101119A>T (p.Asn33707Tyr) n.446+6937T>A n.220-5159T>A c.105139A>T (p.Asn35047Tyr) c.79033A>T (p.Asn26345Tyr) c.78892A>T (p.Asn26298Tyr) c.104935A>T (p.Asn34979Tyr) c.100333A>T (p.Asn33445Tyr) c.100330A>T (p.Asn33444Tyr) c.97372A>T (p.Asn32458Tyr) c.78988A>T (p.Asn26330Tyr) c.100483A>T (p.Asn33495Tyr) c.100480A>T (p.Asn33494Tyr) c.99913A>T (p.Asn33305Tyr) c.97255A>T (p.Asn32419Tyr) c.97174A>T (p.Asn32392Tyr) c.78937A>T (p.Asn26313Tyr) c.68791A>T (p.Asn22931Tyr) | |
2 | g.178530573T>C | CA349407160 | TTN,TTN-AS1 | c.98338A>G (p.Asn32780Asp) c.79423A>G (p.Asn26475Asp) c.79222A>G (p.Asn26408Asp) c.78847A>G (p.Asn26283Asp) c.106042A>G (p.Asn35348Asp) c.101119A>G (p.Asn33707Asp) n.446+6937T>C n.220-5159T>C c.105139A>G (p.Asn35047Asp) c.79033A>G (p.Asn26345Asp) c.78892A>G (p.Asn26298Asp) c.104935A>G (p.Asn34979Asp) c.100333A>G (p.Asn33445Asp) c.100330A>G (p.Asn33444Asp) c.97372A>G (p.Asn32458Asp) c.78988A>G (p.Asn26330Asp) c.100483A>G (p.Asn33495Asp) c.100480A>G (p.Asn33494Asp) c.99913A>G (p.Asn33305Asp) c.97255A>G (p.Asn32419Asp) c.97174A>G (p.Asn32392Asp) c.78937A>G (p.Asn26313Asp) c.68791A>G (p.Asn22931Asp) | |
2 | g.178530573T>G | CA349407159 | TTN,TTN-AS1 | c.98338A>C (p.Asn32780His) c.79423A>C (p.Asn26475His) c.79222A>C (p.Asn26408His) c.78847A>C (p.Asn26283His) c.106042A>C (p.Asn35348His) c.101119A>C (p.Asn33707His) n.446+6937T>G n.220-5159T>G c.105139A>C (p.Asn35047His) c.79033A>C (p.Asn26345His) c.78892A>C (p.Asn26298His) c.104935A>C (p.Asn34979His) c.100333A>C (p.Asn33445His) c.100330A>C (p.Asn33444His) c.97372A>C (p.Asn32458His) c.78988A>C (p.Asn26330His) c.100483A>C (p.Asn33495His) c.100480A>C (p.Asn33494His) c.99913A>C (p.Asn33305His) c.97255A>C (p.Asn32419His) c.97174A>C (p.Asn32392His) c.78937A>C (p.Asn26313His) c.68791A>C (p.Asn22931His) | dbSNP gnomAD v4 |
2 | g.178530573T= | CA1310514770 | TTN,TTN-AS1 | c.98338A= (p.Asn32780=) c.79423A= (p.Asn26475=) c.79222A= (p.Asn26408=) c.78847A= (p.Asn26283=) c.106042A= (p.Asn35348=) c.101119A= (p.Asn33707=) n.446+6937T= n.220-5159T= c.105139A= (p.Asn35047=) c.79033A= (p.Asn26345=) c.78892A= (p.Asn26298=) c.104935A= (p.Asn34979=) c.100333A= (p.Asn33445=) c.100330A= (p.Asn33444=) c.97372A= (p.Asn32458=) c.78988A= (p.Asn26330=) c.100483A= (p.Asn33495=) c.100480A= (p.Asn33494=) c.99913A= (p.Asn33305=) c.97255A= (p.Asn32419=) c.97174A= (p.Asn32392=) c.78937A= (p.Asn26313=) c.68791A= (p.Asn22931=) | |
2 | g.178530574A= | CA1310514772 | TTN,TTN-AS1 | c.98337T= (p.Asn32779=) c.79422T= (p.Asn26474=) c.79221T= (p.Asn26407=) c.78846T= (p.Asn26282=) c.106041T= (p.Asn35347=) c.101118T= (p.Asn33706=) n.446+6938A= n.220-5158A= c.105138T= (p.Asn35046=) c.79032T= (p.Asn26344=) c.78891T= (p.Asn26297=) c.104934T= (p.Asn34978=) c.100332T= (p.Asn33444=) c.100329T= (p.Asn33443=) c.97371T= (p.Asn32457=) c.78987T= (p.Asn26329=) c.100482T= (p.Asn33494=) c.100479T= (p.Asn33493=) c.99912T= (p.Asn33304=) c.97254T= (p.Asn32418=) c.97173T= (p.Asn32391=) c.78936T= (p.Asn26312=) c.68790T= (p.Asn22930=) | |
2 | g.178530574A>C | CA349407161 | TTN,TTN-AS1 | c.98337T>G (p.Asn32779Lys) c.79422T>G (p.Asn26474Lys) c.79221T>G (p.Asn26407Lys) c.78846T>G (p.Asn26282Lys) c.106041T>G (p.Asn35347Lys) c.101118T>G (p.Asn33706Lys) n.446+6938A>C n.220-5158A>C c.105138T>G (p.Asn35046Lys) c.79032T>G (p.Asn26344Lys) c.78891T>G (p.Asn26297Lys) c.104934T>G (p.Asn34978Lys) c.100332T>G (p.Asn33444Lys) c.100329T>G (p.Asn33443Lys) c.97371T>G (p.Asn32457Lys) c.78987T>G (p.Asn26329Lys) c.100482T>G (p.Asn33494Lys) c.100479T>G (p.Asn33493Lys) c.99912T>G (p.Asn33304Lys) c.97254T>G (p.Asn32418Lys) c.97173T>G (p.Asn32391Lys) c.78936T>G (p.Asn26312Lys) c.68790T>G (p.Asn22930Lys) | |
2 | g.178530574A>G | CA430235433 | TTN,TTN-AS1 | c.98337T>C (p.Asn32779=) c.79422T>C (p.Asn26474=) c.79221T>C (p.Asn26407=) c.78846T>C (p.Asn26282=) c.106041T>C (p.Asn35347=) c.101118T>C (p.Asn33706=) n.446+6938A>G n.220-5158A>G c.105138T>C (p.Asn35046=) c.79032T>C (p.Asn26344=) c.78891T>C (p.Asn26297=) c.104934T>C (p.Asn34978=) c.100332T>C (p.Asn33444=) c.100329T>C (p.Asn33443=) c.97371T>C (p.Asn32457=) c.78987T>C (p.Asn26329=) c.100482T>C (p.Asn33494=) c.100479T>C (p.Asn33493=) c.99912T>C (p.Asn33304=) c.97254T>C (p.Asn32418=) c.97173T>C (p.Asn32391=) c.78936T>C (p.Asn26312=) c.68790T>C (p.Asn22930=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530574A>T | CA349407162 | TTN,TTN-AS1 | c.98337T>A (p.Asn32779Lys) c.79422T>A (p.Asn26474Lys) c.79221T>A (p.Asn26407Lys) c.78846T>A (p.Asn26282Lys) c.106041T>A (p.Asn35347Lys) c.101118T>A (p.Asn33706Lys) n.446+6938A>T n.220-5158A>T c.105138T>A (p.Asn35046Lys) c.79032T>A (p.Asn26344Lys) c.78891T>A (p.Asn26297Lys) c.104934T>A (p.Asn34978Lys) c.100332T>A (p.Asn33444Lys) c.100329T>A (p.Asn33443Lys) c.97371T>A (p.Asn32457Lys) c.78987T>A (p.Asn26329Lys) c.100482T>A (p.Asn33494Lys) c.100479T>A (p.Asn33493Lys) c.99912T>A (p.Asn33304Lys) c.97254T>A (p.Asn32418Lys) c.97173T>A (p.Asn32391Lys) c.78936T>A (p.Asn26312Lys) c.68790T>A (p.Asn22930Lys) | |
2 | g.178530575T>A | CA349407163 | TTN,TTN-AS1 | c.98336A>T (p.Asn32779Ile) c.79421A>T (p.Asn26474Ile) c.79220A>T (p.Asn26407Ile) c.78845A>T (p.Asn26282Ile) c.106040A>T (p.Asn35347Ile) c.101117A>T (p.Asn33706Ile) n.446+6939T>A n.220-5157T>A c.105137A>T (p.Asn35046Ile) c.79031A>T (p.Asn26344Ile) c.78890A>T (p.Asn26297Ile) c.104933A>T (p.Asn34978Ile) c.100331A>T (p.Asn33444Ile) c.100328A>T (p.Asn33443Ile) c.97370A>T (p.Asn32457Ile) c.78986A>T (p.Asn26329Ile) c.100481A>T (p.Asn33494Ile) c.100478A>T (p.Asn33493Ile) c.99911A>T (p.Asn33304Ile) c.97253A>T (p.Asn32418Ile) c.97172A>T (p.Asn32391Ile) c.78935A>T (p.Asn26312Ile) c.68789A>T (p.Asn22930Ile) | dbSNP |
2 | g.178530575T>C | CA1985174 | TTN,TTN-AS1 | c.98336A>G (p.Asn32779Ser) c.79421A>G (p.Asn26474Ser) c.79220A>G (p.Asn26407Ser) c.78845A>G (p.Asn26282Ser) c.106040A>G (p.Asn35347Ser) c.101117A>G (p.Asn33706Ser) n.446+6939T>C n.220-5157T>C c.105137A>G (p.Asn35046Ser) c.79031A>G (p.Asn26344Ser) c.78890A>G (p.Asn26297Ser) c.104933A>G (p.Asn34978Ser) c.100331A>G (p.Asn33444Ser) c.100328A>G (p.Asn33443Ser) c.97370A>G (p.Asn32457Ser) c.78986A>G (p.Asn26329Ser) c.100481A>G (p.Asn33494Ser) c.100478A>G (p.Asn33493Ser) c.99911A>G (p.Asn33304Ser) c.97253A>G (p.Asn32418Ser) c.97172A>G (p.Asn32391Ser) c.78935A>G (p.Asn26312Ser) c.68789A>G (p.Asn22930Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530575T>G | CA349407164 | TTN,TTN-AS1 | c.98336A>C (p.Asn32779Thr) c.79421A>C (p.Asn26474Thr) c.79220A>C (p.Asn26407Thr) c.78845A>C (p.Asn26282Thr) c.106040A>C (p.Asn35347Thr) c.101117A>C (p.Asn33706Thr) n.446+6939T>G n.220-5157T>G c.105137A>C (p.Asn35046Thr) c.79031A>C (p.Asn26344Thr) c.78890A>C (p.Asn26297Thr) c.104933A>C (p.Asn34978Thr) c.100331A>C (p.Asn33444Thr) c.100328A>C (p.Asn33443Thr) c.97370A>C (p.Asn32457Thr) c.78986A>C (p.Asn26329Thr) c.100481A>C (p.Asn33494Thr) c.100478A>C (p.Asn33493Thr) c.99911A>C (p.Asn33304Thr) c.97253A>C (p.Asn32418Thr) c.97172A>C (p.Asn32391Thr) c.78935A>C (p.Asn26312Thr) c.68789A>C (p.Asn22930Thr) | |
2 | g.178530575T= | CA1310514774 | TTN,TTN-AS1 | c.98336A= (p.Asn32779=) c.79421A= (p.Asn26474=) c.79220A= (p.Asn26407=) c.78845A= (p.Asn26282=) c.106040A= (p.Asn35347=) c.101117A= (p.Asn33706=) n.446+6939T= n.220-5157T= c.105137A= (p.Asn35046=) c.79031A= (p.Asn26344=) c.78890A= (p.Asn26297=) c.104933A= (p.Asn34978=) c.100331A= (p.Asn33444=) c.100328A= (p.Asn33443=) c.97370A= (p.Asn32457=) c.78986A= (p.Asn26329=) c.100481A= (p.Asn33494=) c.100478A= (p.Asn33493=) c.99911A= (p.Asn33304=) c.97253A= (p.Asn32418=) c.97172A= (p.Asn32391=) c.78935A= (p.Asn26312=) c.68789A= (p.Asn22930=) | |
2 | g.178530576T>A | CA349407165 | TTN,TTN-AS1 | c.98335A>T (p.Asn32779Tyr) c.79420A>T (p.Asn26474Tyr) c.79219A>T (p.Asn26407Tyr) c.78844A>T (p.Asn26282Tyr) c.106039A>T (p.Asn35347Tyr) c.101116A>T (p.Asn33706Tyr) n.446+6940T>A n.220-5156T>A c.105136A>T (p.Asn35046Tyr) c.79030A>T (p.Asn26344Tyr) c.78889A>T (p.Asn26297Tyr) c.104932A>T (p.Asn34978Tyr) c.100330A>T (p.Asn33444Tyr) c.100327A>T (p.Asn33443Tyr) c.97369A>T (p.Asn32457Tyr) c.78985A>T (p.Asn26329Tyr) c.100480A>T (p.Asn33494Tyr) c.100477A>T (p.Asn33493Tyr) c.99910A>T (p.Asn33304Tyr) c.97252A>T (p.Asn32418Tyr) c.97171A>T (p.Asn32391Tyr) c.78934A>T (p.Asn26312Tyr) c.68788A>T (p.Asn22930Tyr) | |
2 | g.178530576T>C | CA349407166 | TTN,TTN-AS1 | c.98335A>G (p.Asn32779Asp) c.79420A>G (p.Asn26474Asp) c.79219A>G (p.Asn26407Asp) c.78844A>G (p.Asn26282Asp) c.106039A>G (p.Asn35347Asp) c.101116A>G (p.Asn33706Asp) n.446+6940T>C n.220-5156T>C c.105136A>G (p.Asn35046Asp) c.79030A>G (p.Asn26344Asp) c.78889A>G (p.Asn26297Asp) c.104932A>G (p.Asn34978Asp) c.100330A>G (p.Asn33444Asp) c.100327A>G (p.Asn33443Asp) c.97369A>G (p.Asn32457Asp) c.78985A>G (p.Asn26329Asp) c.100480A>G (p.Asn33494Asp) c.100477A>G (p.Asn33493Asp) c.99910A>G (p.Asn33304Asp) c.97252A>G (p.Asn32418Asp) c.97171A>G (p.Asn32391Asp) c.78934A>G (p.Asn26312Asp) c.68788A>G (p.Asn22930Asp) | |
2 | g.178530576T>G | CA349407167 | TTN,TTN-AS1 | c.98335A>C (p.Asn32779His) c.79420A>C (p.Asn26474His) c.79219A>C (p.Asn26407His) c.78844A>C (p.Asn26282His) c.106039A>C (p.Asn35347His) c.101116A>C (p.Asn33706His) n.446+6940T>G n.220-5156T>G c.105136A>C (p.Asn35046His) c.79030A>C (p.Asn26344His) c.78889A>C (p.Asn26297His) c.104932A>C (p.Asn34978His) c.100330A>C (p.Asn33444His) c.100327A>C (p.Asn33443His) c.97369A>C (p.Asn32457His) c.78985A>C (p.Asn26329His) c.100480A>C (p.Asn33494His) c.100477A>C (p.Asn33493His) c.99910A>C (p.Asn33304His) c.97252A>C (p.Asn32418His) c.97171A>C (p.Asn32391His) c.78934A>C (p.Asn26312His) c.68788A>C (p.Asn22930His) | dbSNP |
2 | g.178530577G>A | CA430235441 | TTN,TTN-AS1 | c.98334C>T (p.Ile32778=) c.79419C>T (p.Ile26473=) c.79218C>T (p.Ile26406=) c.78843C>T (p.Ile26281=) c.106038C>T (p.Ile35346=) c.101115C>T (p.Ile33705=) n.446+6941G>A n.220-5155G>A c.105135C>T (p.Ile35045=) c.79029C>T (p.Ile26343=) c.78888C>T (p.Ile26296=) c.104931C>T (p.Ile34977=) c.100329C>T (p.Ile33443=) c.100326C>T (p.Ile33442=) c.97368C>T (p.Ile32456=) c.78984C>T (p.Ile26328=) c.100479C>T (p.Ile33493=) c.100476C>T (p.Ile33492=) c.99909C>T (p.Ile33303=) c.97251C>T (p.Ile32417=) c.97170C>T (p.Ile32390=) c.78933C>T (p.Ile26311=) c.68787C>T (p.Ile22929=) | |
2 | g.178530577G>C | CA349407168 | TTN,TTN-AS1 | c.98334C>G (p.Ile32778Met) c.79419C>G (p.Ile26473Met) c.79218C>G (p.Ile26406Met) c.78843C>G (p.Ile26281Met) c.106038C>G (p.Ile35346Met) c.101115C>G (p.Ile33705Met) n.446+6941G>C n.220-5155G>C c.105135C>G (p.Ile35045Met) c.79029C>G (p.Ile26343Met) c.78888C>G (p.Ile26296Met) c.104931C>G (p.Ile34977Met) c.100329C>G (p.Ile33443Met) c.100326C>G (p.Ile33442Met) c.97368C>G (p.Ile32456Met) c.78984C>G (p.Ile26328Met) c.100479C>G (p.Ile33493Met) c.100476C>G (p.Ile33492Met) c.99909C>G (p.Ile33303Met) c.97251C>G (p.Ile32417Met) c.97170C>G (p.Ile32390Met) c.78933C>G (p.Ile26311Met) c.68787C>G (p.Ile22929Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530577G= | CA1310514775 | TTN,TTN-AS1 | c.98334C= (p.Ile32778=) c.79419C= (p.Ile26473=) c.79218C= (p.Ile26406=) c.78843C= (p.Ile26281=) c.106038C= (p.Ile35346=) c.101115C= (p.Ile33705=) n.446+6941G= n.220-5155G= c.105135C= (p.Ile35045=) c.79029C= (p.Ile26343=) c.78888C= (p.Ile26296=) c.104931C= (p.Ile34977=) c.100329C= (p.Ile33443=) c.100326C= (p.Ile33442=) c.97368C= (p.Ile32456=) c.78984C= (p.Ile26328=) c.100479C= (p.Ile33493=) c.100476C= (p.Ile33492=) c.99909C= (p.Ile33303=) c.97251C= (p.Ile32417=) c.97170C= (p.Ile32390=) c.78933C= (p.Ile26311=) c.68787C= (p.Ile22929=) | |
2 | g.178530577G>T | CA430235443 | TTN,TTN-AS1 | c.98334C>A (p.Ile32778=) c.79419C>A (p.Ile26473=) c.79218C>A (p.Ile26406=) c.78843C>A (p.Ile26281=) c.106038C>A (p.Ile35346=) c.101115C>A (p.Ile33705=) n.446+6941G>T n.220-5155G>T c.105135C>A (p.Ile35045=) c.79029C>A (p.Ile26343=) c.78888C>A (p.Ile26296=) c.104931C>A (p.Ile34977=) c.100329C>A (p.Ile33443=) c.100326C>A (p.Ile33442=) c.97368C>A (p.Ile32456=) c.78984C>A (p.Ile26328=) c.100479C>A (p.Ile33493=) c.100476C>A (p.Ile33492=) c.99909C>A (p.Ile33303=) c.97251C>A (p.Ile32417=) c.97170C>A (p.Ile32390=) c.78933C>A (p.Ile26311=) c.68787C>A (p.Ile22929=) | |
2 | g.178530578A>C | CA349407169 | TTN,TTN-AS1 | c.98333T>G (p.Ile32778Ser) c.79418T>G (p.Ile26473Ser) c.79217T>G (p.Ile26406Ser) c.78842T>G (p.Ile26281Ser) c.106037T>G (p.Ile35346Ser) c.101114T>G (p.Ile33705Ser) n.446+6942A>C n.220-5154A>C c.105134T>G (p.Ile35045Ser) c.79028T>G (p.Ile26343Ser) c.78887T>G (p.Ile26296Ser) c.104930T>G (p.Ile34977Ser) c.100328T>G (p.Ile33443Ser) c.100325T>G (p.Ile33442Ser) c.97367T>G (p.Ile32456Ser) c.78983T>G (p.Ile26328Ser) c.100478T>G (p.Ile33493Ser) c.100475T>G (p.Ile33492Ser) c.99908T>G (p.Ile33303Ser) c.97250T>G (p.Ile32417Ser) c.97169T>G (p.Ile32390Ser) c.78932T>G (p.Ile26311Ser) c.68786T>G (p.Ile22929Ser) | |
2 | g.178530578A>G | CA349407170 | TTN,TTN-AS1 | c.98333T>C (p.Ile32778Thr) c.79418T>C (p.Ile26473Thr) c.79217T>C (p.Ile26406Thr) c.78842T>C (p.Ile26281Thr) c.106037T>C (p.Ile35346Thr) c.101114T>C (p.Ile33705Thr) n.446+6942A>G n.220-5154A>G c.105134T>C (p.Ile35045Thr) c.79028T>C (p.Ile26343Thr) c.78887T>C (p.Ile26296Thr) c.104930T>C (p.Ile34977Thr) c.100328T>C (p.Ile33443Thr) c.100325T>C (p.Ile33442Thr) c.97367T>C (p.Ile32456Thr) c.78983T>C (p.Ile26328Thr) c.100478T>C (p.Ile33493Thr) c.100475T>C (p.Ile33492Thr) c.99908T>C (p.Ile33303Thr) c.97250T>C (p.Ile32417Thr) c.97169T>C (p.Ile32390Thr) c.78932T>C (p.Ile26311Thr) c.68786T>C (p.Ile22929Thr) | |
2 | g.178530578A>T | CA349407171 | TTN,TTN-AS1 | c.98333T>A (p.Ile32778Asn) c.79418T>A (p.Ile26473Asn) c.79217T>A (p.Ile26406Asn) c.78842T>A (p.Ile26281Asn) c.106037T>A (p.Ile35346Asn) c.101114T>A (p.Ile33705Asn) n.446+6942A>T n.220-5154A>T c.105134T>A (p.Ile35045Asn) c.79028T>A (p.Ile26343Asn) c.78887T>A (p.Ile26296Asn) c.104930T>A (p.Ile34977Asn) c.100328T>A (p.Ile33443Asn) c.100325T>A (p.Ile33442Asn) c.97367T>A (p.Ile32456Asn) c.78983T>A (p.Ile26328Asn) c.100478T>A (p.Ile33493Asn) c.100475T>A (p.Ile33492Asn) c.99908T>A (p.Ile33303Asn) c.97250T>A (p.Ile32417Asn) c.97169T>A (p.Ile32390Asn) c.78932T>A (p.Ile26311Asn) c.68786T>A (p.Ile22929Asn) | |
2 | g.178530579T>A | CA349407174 | TTN,TTN-AS1 | c.98332A>T (p.Ile32778Phe) c.79417A>T (p.Ile26473Phe) c.79216A>T (p.Ile26406Phe) c.78841A>T (p.Ile26281Phe) c.106036A>T (p.Ile35346Phe) c.101113A>T (p.Ile33705Phe) n.446+6943T>A n.220-5153T>A c.105133A>T (p.Ile35045Phe) c.79027A>T (p.Ile26343Phe) c.78886A>T (p.Ile26296Phe) c.104929A>T (p.Ile34977Phe) c.100327A>T (p.Ile33443Phe) c.100324A>T (p.Ile33442Phe) c.97366A>T (p.Ile32456Phe) c.78982A>T (p.Ile26328Phe) c.100477A>T (p.Ile33493Phe) c.100474A>T (p.Ile33492Phe) c.99907A>T (p.Ile33303Phe) c.97249A>T (p.Ile32417Phe) c.97168A>T (p.Ile32390Phe) c.78931A>T (p.Ile26311Phe) c.68785A>T (p.Ile22929Phe) | |
2 | g.178530579T>C | CA349407172 | TTN,TTN-AS1 | c.98332A>G (p.Ile32778Val) c.79417A>G (p.Ile26473Val) c.79216A>G (p.Ile26406Val) c.78841A>G (p.Ile26281Val) c.106036A>G (p.Ile35346Val) c.101113A>G (p.Ile33705Val) n.446+6943T>C n.220-5153T>C c.105133A>G (p.Ile35045Val) c.79027A>G (p.Ile26343Val) c.78886A>G (p.Ile26296Val) c.104929A>G (p.Ile34977Val) c.100327A>G (p.Ile33443Val) c.100324A>G (p.Ile33442Val) c.97366A>G (p.Ile32456Val) c.78982A>G (p.Ile26328Val) c.100477A>G (p.Ile33493Val) c.100474A>G (p.Ile33492Val) c.99907A>G (p.Ile33303Val) c.97249A>G (p.Ile32417Val) c.97168A>G (p.Ile32390Val) c.78931A>G (p.Ile26311Val) c.68785A>G (p.Ile22929Val) | |
2 | g.178530579T>G | CA349407173 | TTN,TTN-AS1 | c.98332A>C (p.Ile32778Leu) c.79417A>C (p.Ile26473Leu) c.79216A>C (p.Ile26406Leu) c.78841A>C (p.Ile26281Leu) c.106036A>C (p.Ile35346Leu) c.101113A>C (p.Ile33705Leu) n.446+6943T>G n.220-5153T>G c.105133A>C (p.Ile35045Leu) c.79027A>C (p.Ile26343Leu) c.78886A>C (p.Ile26296Leu) c.104929A>C (p.Ile34977Leu) c.100327A>C (p.Ile33443Leu) c.100324A>C (p.Ile33442Leu) c.97366A>C (p.Ile32456Leu) c.78982A>C (p.Ile26328Leu) c.100477A>C (p.Ile33493Leu) c.100474A>C (p.Ile33492Leu) c.99907A>C (p.Ile33303Leu) c.97249A>C (p.Ile32417Leu) c.97168A>C (p.Ile32390Leu) c.78931A>C (p.Ile26311Leu) c.68785A>C (p.Ile22929Leu) | |
2 | g.178530580T>A | CA349407175 | TTN,TTN-AS1 | c.98331A>T (p.Lys32777Asn) c.79416A>T (p.Lys26472Asn) c.79215A>T (p.Lys26405Asn) c.78840A>T (p.Lys26280Asn) c.106035A>T (p.Lys35345Asn) c.101112A>T (p.Lys33704Asn) n.446+6944T>A n.220-5152T>A c.105132A>T (p.Lys35044Asn) c.79026A>T (p.Lys26342Asn) c.78885A>T (p.Lys26295Asn) c.104928A>T (p.Lys34976Asn) c.100326A>T (p.Lys33442Asn) c.100323A>T (p.Lys33441Asn) c.97365A>T (p.Lys32455Asn) c.78981A>T (p.Lys26327Asn) c.100476A>T (p.Lys33492Asn) c.100473A>T (p.Lys33491Asn) c.99906A>T (p.Lys33302Asn) c.97248A>T (p.Lys32416Asn) c.97167A>T (p.Lys32389Asn) c.78930A>T (p.Lys26310Asn) c.68784A>T (p.Lys22928Asn) | |
2 | g.178530580T>C | CA430235446 | TTN,TTN-AS1 | c.98331A>G (p.Lys32777=) c.79416A>G (p.Lys26472=) c.79215A>G (p.Lys26405=) c.78840A>G (p.Lys26280=) c.106035A>G (p.Lys35345=) c.101112A>G (p.Lys33704=) n.446+6944T>C n.220-5152T>C c.105132A>G (p.Lys35044=) c.79026A>G (p.Lys26342=) c.78885A>G (p.Lys26295=) c.104928A>G (p.Lys34976=) c.100326A>G (p.Lys33442=) c.100323A>G (p.Lys33441=) c.97365A>G (p.Lys32455=) c.78981A>G (p.Lys26327=) c.100476A>G (p.Lys33492=) c.100473A>G (p.Lys33491=) c.99906A>G (p.Lys33302=) c.97248A>G (p.Lys32416=) c.97167A>G (p.Lys32389=) c.78930A>G (p.Lys26310=) c.68784A>G (p.Lys22928=) | |
2 | g.178530580T>G | CA349407176 | TTN,TTN-AS1 | c.98331A>C (p.Lys32777Asn) c.79416A>C (p.Lys26472Asn) c.79215A>C (p.Lys26405Asn) c.78840A>C (p.Lys26280Asn) c.106035A>C (p.Lys35345Asn) c.101112A>C (p.Lys33704Asn) n.446+6944T>G n.220-5152T>G c.105132A>C (p.Lys35044Asn) c.79026A>C (p.Lys26342Asn) c.78885A>C (p.Lys26295Asn) c.104928A>C (p.Lys34976Asn) c.100326A>C (p.Lys33442Asn) c.100323A>C (p.Lys33441Asn) c.97365A>C (p.Lys32455Asn) c.78981A>C (p.Lys26327Asn) c.100476A>C (p.Lys33492Asn) c.100473A>C (p.Lys33491Asn) c.99906A>C (p.Lys33302Asn) c.97248A>C (p.Lys32416Asn) c.97167A>C (p.Lys32389Asn) c.78930A>C (p.Lys26310Asn) c.68784A>C (p.Lys22928Asn) | |
2 | g.178530581T>A | CA349407177 | TTN,TTN-AS1 | c.98330A>T (p.Lys32777Ile) c.79415A>T (p.Lys26472Ile) c.79214A>T (p.Lys26405Ile) c.78839A>T (p.Lys26280Ile) c.106034A>T (p.Lys35345Ile) c.101111A>T (p.Lys33704Ile) n.446+6945T>A n.220-5151T>A c.105131A>T (p.Lys35044Ile) c.79025A>T (p.Lys26342Ile) c.78884A>T (p.Lys26295Ile) c.104927A>T (p.Lys34976Ile) c.100325A>T (p.Lys33442Ile) c.100322A>T (p.Lys33441Ile) c.97364A>T (p.Lys32455Ile) c.78980A>T (p.Lys26327Ile) c.100475A>T (p.Lys33492Ile) c.100472A>T (p.Lys33491Ile) c.99905A>T (p.Lys33302Ile) c.97247A>T (p.Lys32416Ile) c.97166A>T (p.Lys32389Ile) c.78929A>T (p.Lys26310Ile) c.68783A>T (p.Lys22928Ile) | |
2 | g.178530581T>C | CA349407178 | TTN,TTN-AS1 | c.98330A>G (p.Lys32777Arg) c.79415A>G (p.Lys26472Arg) c.79214A>G (p.Lys26405Arg) c.78839A>G (p.Lys26280Arg) c.106034A>G (p.Lys35345Arg) c.101111A>G (p.Lys33704Arg) n.446+6945T>C n.220-5151T>C c.105131A>G (p.Lys35044Arg) c.79025A>G (p.Lys26342Arg) c.78884A>G (p.Lys26295Arg) c.104927A>G (p.Lys34976Arg) c.100325A>G (p.Lys33442Arg) c.100322A>G (p.Lys33441Arg) c.97364A>G (p.Lys32455Arg) c.78980A>G (p.Lys26327Arg) c.100475A>G (p.Lys33492Arg) c.100472A>G (p.Lys33491Arg) c.99905A>G (p.Lys33302Arg) c.97247A>G (p.Lys32416Arg) c.97166A>G (p.Lys32389Arg) c.78929A>G (p.Lys26310Arg) c.68783A>G (p.Lys22928Arg) | |
2 | g.178530581T>G | CA349407179 | TTN,TTN-AS1 | c.98330A>C (p.Lys32777Thr) c.79415A>C (p.Lys26472Thr) c.79214A>C (p.Lys26405Thr) c.78839A>C (p.Lys26280Thr) c.106034A>C (p.Lys35345Thr) c.101111A>C (p.Lys33704Thr) n.446+6945T>G n.220-5151T>G c.105131A>C (p.Lys35044Thr) c.79025A>C (p.Lys26342Thr) c.78884A>C (p.Lys26295Thr) c.104927A>C (p.Lys34976Thr) c.100325A>C (p.Lys33442Thr) c.100322A>C (p.Lys33441Thr) c.97364A>C (p.Lys32455Thr) c.78980A>C (p.Lys26327Thr) c.100475A>C (p.Lys33492Thr) c.100472A>C (p.Lys33491Thr) c.99905A>C (p.Lys33302Thr) c.97247A>C (p.Lys32416Thr) c.97166A>C (p.Lys32389Thr) c.78929A>C (p.Lys26310Thr) c.68783A>C (p.Lys22928Thr) | |
2 | g.178530582T>A | CA349407180 | TTN,TTN-AS1 | c.98329A>T (p.Lys32777Ter) c.79414A>T (p.Lys26472Ter) c.79213A>T (p.Lys26405Ter) c.78838A>T (p.Lys26280Ter) c.106033A>T (p.Lys35345Ter) c.101110A>T (p.Lys33704Ter) n.446+6946T>A n.220-5150T>A c.105130A>T (p.Lys35044Ter) c.79024A>T (p.Lys26342Ter) c.78883A>T (p.Lys26295Ter) c.104926A>T (p.Lys34976Ter) c.100324A>T (p.Lys33442Ter) c.100321A>T (p.Lys33441Ter) c.97363A>T (p.Lys32455Ter) c.78979A>T (p.Lys26327Ter) c.100474A>T (p.Lys33492Ter) c.100471A>T (p.Lys33491Ter) c.99904A>T (p.Lys33302Ter) c.97246A>T (p.Lys32416Ter) c.97165A>T (p.Lys32389Ter) c.78928A>T (p.Lys26310Ter) c.68782A>T (p.Lys22928Ter) | gnomAD v4 |
2 | g.178530582T>C | CA349407181 | TTN,TTN-AS1 | c.98329A>G (p.Lys32777Glu) c.79414A>G (p.Lys26472Glu) c.79213A>G (p.Lys26405Glu) c.78838A>G (p.Lys26280Glu) c.106033A>G (p.Lys35345Glu) c.101110A>G (p.Lys33704Glu) n.446+6946T>C n.220-5150T>C c.105130A>G (p.Lys35044Glu) c.79024A>G (p.Lys26342Glu) c.78883A>G (p.Lys26295Glu) c.104926A>G (p.Lys34976Glu) c.100324A>G (p.Lys33442Glu) c.100321A>G (p.Lys33441Glu) c.97363A>G (p.Lys32455Glu) c.78979A>G (p.Lys26327Glu) c.100474A>G (p.Lys33492Glu) c.100471A>G (p.Lys33491Glu) c.99904A>G (p.Lys33302Glu) c.97246A>G (p.Lys32416Glu) c.97165A>G (p.Lys32389Glu) c.78928A>G (p.Lys26310Glu) c.68782A>G (p.Lys22928Glu) | |
2 | g.178530582T>G | CA349407182 | TTN,TTN-AS1 | c.98329A>C (p.Lys32777Gln) c.79414A>C (p.Lys26472Gln) c.79213A>C (p.Lys26405Gln) c.78838A>C (p.Lys26280Gln) c.106033A>C (p.Lys35345Gln) c.101110A>C (p.Lys33704Gln) n.446+6946T>G n.220-5150T>G c.105130A>C (p.Lys35044Gln) c.79024A>C (p.Lys26342Gln) c.78883A>C (p.Lys26295Gln) c.104926A>C (p.Lys34976Gln) c.100324A>C (p.Lys33442Gln) c.100321A>C (p.Lys33441Gln) c.97363A>C (p.Lys32455Gln) c.78979A>C (p.Lys26327Gln) c.100474A>C (p.Lys33492Gln) c.100471A>C (p.Lys33491Gln) c.99904A>C (p.Lys33302Gln) c.97246A>C (p.Lys32416Gln) c.97165A>C (p.Lys32389Gln) c.78928A>C (p.Lys26310Gln) c.68782A>C (p.Lys22928Gln) | |
2 | g.178530583G>A | CA430235452 | TTN,TTN-AS1 | c.98328C>T (p.Leu32776=) c.79413C>T (p.Leu26471=) c.79212C>T (p.Leu26404=) c.78837C>T (p.Leu26279=) c.106032C>T (p.Leu35344=) c.101109C>T (p.Leu33703=) n.446+6947G>A n.220-5149G>A c.105129C>T (p.Leu35043=) c.79023C>T (p.Leu26341=) c.78882C>T (p.Leu26294=) c.104925C>T (p.Leu34975=) c.100323C>T (p.Leu33441=) c.100320C>T (p.Leu33440=) c.97362C>T (p.Leu32454=) c.78978C>T (p.Leu26326=) c.100473C>T (p.Leu33491=) c.100470C>T (p.Leu33490=) c.99903C>T (p.Leu33301=) c.97245C>T (p.Leu32415=) c.97164C>T (p.Leu32388=) c.78927C>T (p.Leu26309=) c.68781C>T (p.Leu22927=) | |
2 | g.178530583G>C | CA430235453 | TTN,TTN-AS1 | c.98328C>G (p.Leu32776=) c.79413C>G (p.Leu26471=) c.79212C>G (p.Leu26404=) c.78837C>G (p.Leu26279=) c.106032C>G (p.Leu35344=) c.101109C>G (p.Leu33703=) n.446+6947G>C n.220-5149G>C c.105129C>G (p.Leu35043=) c.79023C>G (p.Leu26341=) c.78882C>G (p.Leu26294=) c.104925C>G (p.Leu34975=) c.100323C>G (p.Leu33441=) c.100320C>G (p.Leu33440=) c.97362C>G (p.Leu32454=) c.78978C>G (p.Leu26326=) c.100473C>G (p.Leu33491=) c.100470C>G (p.Leu33490=) c.99903C>G (p.Leu33301=) c.97245C>G (p.Leu32415=) c.97164C>G (p.Leu32388=) c.78927C>G (p.Leu26309=) c.68781C>G (p.Leu22927=) | |
2 | g.178530583G>T | CA430235454 | TTN,TTN-AS1 | c.98328C>A (p.Leu32776=) c.79413C>A (p.Leu26471=) c.79212C>A (p.Leu26404=) c.78837C>A (p.Leu26279=) c.106032C>A (p.Leu35344=) c.101109C>A (p.Leu33703=) n.446+6947G>T n.220-5149G>T c.105129C>A (p.Leu35043=) c.79023C>A (p.Leu26341=) c.78882C>A (p.Leu26294=) c.104925C>A (p.Leu34975=) c.100323C>A (p.Leu33441=) c.100320C>A (p.Leu33440=) c.97362C>A (p.Leu32454=) c.78978C>A (p.Leu26326=) c.100473C>A (p.Leu33491=) c.100470C>A (p.Leu33490=) c.99903C>A (p.Leu33301=) c.97245C>A (p.Leu32415=) c.97164C>A (p.Leu32388=) c.78927C>A (p.Leu26309=) c.68781C>A (p.Leu22927=) | |
2 | g.178530584A= | CA1310514777 | TTN,TTN-AS1 | c.98327T= (p.Leu32776=) c.79412T= (p.Leu26471=) c.79211T= (p.Leu26404=) c.78836T= (p.Leu26279=) c.106031T= (p.Leu35344=) c.101108T= (p.Leu33703=) n.446+6948A= n.220-5148A= c.105128T= (p.Leu35043=) c.79022T= (p.Leu26341=) c.78881T= (p.Leu26294=) c.104924T= (p.Leu34975=) c.100322T= (p.Leu33441=) c.100319T= (p.Leu33440=) c.97361T= (p.Leu32454=) c.78977T= (p.Leu26326=) c.100472T= (p.Leu33491=) c.100469T= (p.Leu33490=) c.99902T= (p.Leu33301=) c.97244T= (p.Leu32415=) c.97163T= (p.Leu32388=) c.78926T= (p.Leu26309=) c.68780T= (p.Leu22927=) | |
2 | g.178530584A>C | CA349407183 | TTN,TTN-AS1 | c.98327T>G (p.Leu32776Arg) c.79412T>G (p.Leu26471Arg) c.79211T>G (p.Leu26404Arg) c.78836T>G (p.Leu26279Arg) c.106031T>G (p.Leu35344Arg) c.101108T>G (p.Leu33703Arg) n.446+6948A>C n.220-5148A>C c.105128T>G (p.Leu35043Arg) c.79022T>G (p.Leu26341Arg) c.78881T>G (p.Leu26294Arg) c.104924T>G (p.Leu34975Arg) c.100322T>G (p.Leu33441Arg) c.100319T>G (p.Leu33440Arg) c.97361T>G (p.Leu32454Arg) c.78977T>G (p.Leu26326Arg) c.100472T>G (p.Leu33491Arg) c.100469T>G (p.Leu33490Arg) c.99902T>G (p.Leu33301Arg) c.97244T>G (p.Leu32415Arg) c.97163T>G (p.Leu32388Arg) c.78926T>G (p.Leu26309Arg) c.68780T>G (p.Leu22927Arg) | |
2 | g.178530584A>G | CA60953489 | TTN,TTN-AS1 | c.98327T>C (p.Leu32776Pro) c.79412T>C (p.Leu26471Pro) c.79211T>C (p.Leu26404Pro) c.78836T>C (p.Leu26279Pro) c.106031T>C (p.Leu35344Pro) c.101108T>C (p.Leu33703Pro) n.446+6948A>G n.220-5148A>G c.105128T>C (p.Leu35043Pro) c.79022T>C (p.Leu26341Pro) c.78881T>C (p.Leu26294Pro) c.104924T>C (p.Leu34975Pro) c.100322T>C (p.Leu33441Pro) c.100319T>C (p.Leu33440Pro) c.97361T>C (p.Leu32454Pro) c.78977T>C (p.Leu26326Pro) c.100472T>C (p.Leu33491Pro) c.100469T>C (p.Leu33490Pro) c.99902T>C (p.Leu33301Pro) c.97244T>C (p.Leu32415Pro) c.97163T>C (p.Leu32388Pro) c.78926T>C (p.Leu26309Pro) c.68780T>C (p.Leu22927Pro) | dbSNP |
2 | g.178530584A>T | CA349407184 | TTN,TTN-AS1 | c.98327T>A (p.Leu32776His) c.79412T>A (p.Leu26471His) c.79211T>A (p.Leu26404His) c.78836T>A (p.Leu26279His) c.106031T>A (p.Leu35344His) c.101108T>A (p.Leu33703His) n.446+6948A>T n.220-5148A>T c.105128T>A (p.Leu35043His) c.79022T>A (p.Leu26341His) c.78881T>A (p.Leu26294His) c.104924T>A (p.Leu34975His) c.100322T>A (p.Leu33441His) c.100319T>A (p.Leu33440His) c.97361T>A (p.Leu32454His) c.78977T>A (p.Leu26326His) c.100472T>A (p.Leu33491His) c.100469T>A (p.Leu33490His) c.99902T>A (p.Leu33301His) c.97244T>A (p.Leu32415His) c.97163T>A (p.Leu32388His) c.78926T>A (p.Leu26309His) c.68780T>A (p.Leu22927His) | gnomAD v4 |
2 | g.178530585G>A | CA349407187 | TTN,TTN-AS1 | c.98326C>T (p.Leu32776Phe) c.79411C>T (p.Leu26471Phe) c.79210C>T (p.Leu26404Phe) c.78835C>T (p.Leu26279Phe) c.106030C>T (p.Leu35344Phe) c.101107C>T (p.Leu33703Phe) n.446+6949G>A n.220-5147G>A c.105127C>T (p.Leu35043Phe) c.79021C>T (p.Leu26341Phe) c.78880C>T (p.Leu26294Phe) c.104923C>T (p.Leu34975Phe) c.100321C>T (p.Leu33441Phe) c.100318C>T (p.Leu33440Phe) c.97360C>T (p.Leu32454Phe) c.78976C>T (p.Leu26326Phe) c.100471C>T (p.Leu33491Phe) c.100468C>T (p.Leu33490Phe) c.99901C>T (p.Leu33301Phe) c.97243C>T (p.Leu32415Phe) c.97162C>T (p.Leu32388Phe) c.78925C>T (p.Leu26309Phe) c.68779C>T (p.Leu22927Phe) | |
2 | g.178530585G>C | CA349407186 | TTN,TTN-AS1 | c.98326C>G (p.Leu32776Val) c.79411C>G (p.Leu26471Val) c.79210C>G (p.Leu26404Val) c.78835C>G (p.Leu26279Val) c.106030C>G (p.Leu35344Val) c.101107C>G (p.Leu33703Val) n.446+6949G>C n.220-5147G>C c.105127C>G (p.Leu35043Val) c.79021C>G (p.Leu26341Val) c.78880C>G (p.Leu26294Val) c.104923C>G (p.Leu34975Val) c.100321C>G (p.Leu33441Val) c.100318C>G (p.Leu33440Val) c.97360C>G (p.Leu32454Val) c.78976C>G (p.Leu26326Val) c.100471C>G (p.Leu33491Val) c.100468C>G (p.Leu33490Val) c.99901C>G (p.Leu33301Val) c.97243C>G (p.Leu32415Val) c.97162C>G (p.Leu32388Val) c.78925C>G (p.Leu26309Val) c.68779C>G (p.Leu22927Val) | |
2 | g.178530585G>T | CA349407185 | TTN,TTN-AS1 | c.98326C>A (p.Leu32776Ile) c.79411C>A (p.Leu26471Ile) c.79210C>A (p.Leu26404Ile) c.78835C>A (p.Leu26279Ile) c.106030C>A (p.Leu35344Ile) c.101107C>A (p.Leu33703Ile) n.446+6949G>T n.220-5147G>T c.105127C>A (p.Leu35043Ile) c.79021C>A (p.Leu26341Ile) c.78880C>A (p.Leu26294Ile) c.104923C>A (p.Leu34975Ile) c.100321C>A (p.Leu33441Ile) c.100318C>A (p.Leu33440Ile) c.97360C>A (p.Leu32454Ile) c.78976C>A (p.Leu26326Ile) c.100471C>A (p.Leu33491Ile) c.100468C>A (p.Leu33490Ile) c.99901C>A (p.Leu33301Ile) c.97243C>A (p.Leu32415Ile) c.97162C>A (p.Leu32388Ile) c.78925C>A (p.Leu26309Ile) c.68779C>A (p.Leu22927Ile) | |
2 | g.178530586C>A | CA349407188 | TTN,TTN-AS1 | c.98325G>T (p.Glu32775Asp) c.79410G>T (p.Glu26470Asp) c.79209G>T (p.Glu26403Asp) c.78834G>T (p.Glu26278Asp) c.106029G>T (p.Glu35343Asp) c.101106G>T (p.Glu33702Asp) n.446+6950C>A n.220-5146C>A c.105126G>T (p.Glu35042Asp) c.79020G>T (p.Glu26340Asp) c.78879G>T (p.Glu26293Asp) c.104922G>T (p.Glu34974Asp) c.100320G>T (p.Glu33440Asp) c.100317G>T (p.Glu33439Asp) c.97359G>T (p.Glu32453Asp) c.78975G>T (p.Glu26325Asp) c.100470G>T (p.Glu33490Asp) c.100467G>T (p.Glu33489Asp) c.99900G>T (p.Glu33300Asp) c.97242G>T (p.Glu32414Asp) c.97161G>T (p.Glu32387Asp) c.78924G>T (p.Glu26308Asp) c.68778G>T (p.Glu22926Asp) | |
2 | g.178530586C= | CA1310514778 | TTN,TTN-AS1 | c.98325G= (p.Glu32775=) c.79410G= (p.Glu26470=) c.79209G= (p.Glu26403=) c.78834G= (p.Glu26278=) c.106029G= (p.Glu35343=) c.101106G= (p.Glu33702=) n.446+6950C= n.220-5146C= c.105126G= (p.Glu35042=) c.79020G= (p.Glu26340=) c.78879G= (p.Glu26293=) c.104922G= (p.Glu34974=) c.100320G= (p.Glu33440=) c.100317G= (p.Glu33439=) c.97359G= (p.Glu32453=) c.78975G= (p.Glu26325=) c.100470G= (p.Glu33490=) c.100467G= (p.Glu33489=) c.99900G= (p.Glu33300=) c.97242G= (p.Glu32414=) c.97161G= (p.Glu32387=) c.78924G= (p.Glu26308=) c.68778G= (p.Glu22926=) | |
2 | g.178530586C>G | CA60953491 | TTN,TTN-AS1 | c.98325G>C (p.Glu32775Asp) c.79410G>C (p.Glu26470Asp) c.79209G>C (p.Glu26403Asp) c.78834G>C (p.Glu26278Asp) c.106029G>C (p.Glu35343Asp) c.101106G>C (p.Glu33702Asp) n.446+6950C>G n.220-5146C>G c.105126G>C (p.Glu35042Asp) c.79020G>C (p.Glu26340Asp) c.78879G>C (p.Glu26293Asp) c.104922G>C (p.Glu34974Asp) c.100320G>C (p.Glu33440Asp) c.100317G>C (p.Glu33439Asp) c.97359G>C (p.Glu32453Asp) c.78975G>C (p.Glu26325Asp) c.100470G>C (p.Glu33490Asp) c.100467G>C (p.Glu33489Asp) c.99900G>C (p.Glu33300Asp) c.97242G>C (p.Glu32414Asp) c.97161G>C (p.Glu32387Asp) c.78924G>C (p.Glu26308Asp) c.68778G>C (p.Glu22926Asp) | dbSNP |
2 | g.178530586C>T | CA430235463 | TTN,TTN-AS1 | c.98325G>A (p.Glu32775=) c.79410G>A (p.Glu26470=) c.79209G>A (p.Glu26403=) c.78834G>A (p.Glu26278=) c.106029G>A (p.Glu35343=) c.101106G>A (p.Glu33702=) n.446+6950C>T n.220-5146C>T c.105126G>A (p.Glu35042=) c.79020G>A (p.Glu26340=) c.78879G>A (p.Glu26293=) c.104922G>A (p.Glu34974=) c.100320G>A (p.Glu33440=) c.100317G>A (p.Glu33439=) c.97359G>A (p.Glu32453=) c.78975G>A (p.Glu26325=) c.100470G>A (p.Glu33490=) c.100467G>A (p.Glu33489=) c.99900G>A (p.Glu33300=) c.97242G>A (p.Glu32414=) c.97161G>A (p.Glu32387=) c.78924G>A (p.Glu26308=) c.68778G>A (p.Glu22926=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530587T>A | CA349407189 | TTN,TTN-AS1 | c.98324A>T (p.Glu32775Val) c.79409A>T (p.Glu26470Val) c.79208A>T (p.Glu26403Val) c.78833A>T (p.Glu26278Val) c.106028A>T (p.Glu35343Val) c.101105A>T (p.Glu33702Val) n.446+6951T>A n.220-5145T>A c.105125A>T (p.Glu35042Val) c.79019A>T (p.Glu26340Val) c.78878A>T (p.Glu26293Val) c.104921A>T (p.Glu34974Val) c.100319A>T (p.Glu33440Val) c.100316A>T (p.Glu33439Val) c.97358A>T (p.Glu32453Val) c.78974A>T (p.Glu26325Val) c.100469A>T (p.Glu33490Val) c.100466A>T (p.Glu33489Val) c.99899A>T (p.Glu33300Val) c.97241A>T (p.Glu32414Val) c.97160A>T (p.Glu32387Val) c.78923A>T (p.Glu26308Val) c.68777A>T (p.Glu22926Val) | |
2 | g.178530587T>C | CA237605 | TTN,TTN-AS1 | c.98324A>G (p.Glu32775Gly) c.79409A>G (p.Glu26470Gly) c.79208A>G (p.Glu26403Gly) c.78833A>G (p.Glu26278Gly) c.106028A>G (p.Glu35343Gly) c.101105A>G (p.Glu33702Gly) n.446+6951T>C n.220-5145T>C c.105125A>G (p.Glu35042Gly) c.79019A>G (p.Glu26340Gly) c.78878A>G (p.Glu26293Gly) c.104921A>G (p.Glu34974Gly) c.100319A>G (p.Glu33440Gly) c.100316A>G (p.Glu33439Gly) c.97358A>G (p.Glu32453Gly) c.78974A>G (p.Glu26325Gly) c.100469A>G (p.Glu33490Gly) c.100466A>G (p.Glu33489Gly) c.99899A>G (p.Glu33300Gly) c.97241A>G (p.Glu32414Gly) c.97160A>G (p.Glu32387Gly) c.78923A>G (p.Glu26308Gly) c.68777A>G (p.Glu22926Gly) | ClinVar dbSNP |
2 | g.178530587T>G | CA349407190 | TTN,TTN-AS1 | c.98324A>C (p.Glu32775Ala) c.79409A>C (p.Glu26470Ala) c.79208A>C (p.Glu26403Ala) c.78833A>C (p.Glu26278Ala) c.106028A>C (p.Glu35343Ala) c.101105A>C (p.Glu33702Ala) n.446+6951T>G n.220-5145T>G c.105125A>C (p.Glu35042Ala) c.79019A>C (p.Glu26340Ala) c.78878A>C (p.Glu26293Ala) c.104921A>C (p.Glu34974Ala) c.100319A>C (p.Glu33440Ala) c.100316A>C (p.Glu33439Ala) c.97358A>C (p.Glu32453Ala) c.78974A>C (p.Glu26325Ala) c.100469A>C (p.Glu33490Ala) c.100466A>C (p.Glu33489Ala) c.99899A>C (p.Glu33300Ala) c.97241A>C (p.Glu32414Ala) c.97160A>C (p.Glu32387Ala) c.78923A>C (p.Glu26308Ala) c.68777A>C (p.Glu22926Ala) | |
2 | g.178530587T= | CA1310514780 | TTN,TTN-AS1 | c.98324A= (p.Glu32775=) c.79409A= (p.Glu26470=) c.79208A= (p.Glu26403=) c.78833A= (p.Glu26278=) c.106028A= (p.Glu35343=) c.101105A= (p.Glu33702=) n.446+6951T= n.220-5145T= c.105125A= (p.Glu35042=) c.79019A= (p.Glu26340=) c.78878A= (p.Glu26293=) c.104921A= (p.Glu34974=) c.100319A= (p.Glu33440=) c.100316A= (p.Glu33439=) c.97358A= (p.Glu32453=) c.78974A= (p.Glu26325=) c.100469A= (p.Glu33490=) c.100466A= (p.Glu33489=) c.99899A= (p.Glu33300=) c.97241A= (p.Glu32414=) c.97160A= (p.Glu32387=) c.78923A= (p.Glu26308=) c.68777A= (p.Glu22926=) | |
2 | g.178530588C>A | CA349407191 | TTN,TTN-AS1 | c.98323G>T (p.Glu32775Ter) c.79408G>T (p.Glu26470Ter) c.79207G>T (p.Glu26403Ter) c.78832G>T (p.Glu26278Ter) c.106027G>T (p.Glu35343Ter) c.101104G>T (p.Glu33702Ter) n.446+6952C>A n.220-5144C>A c.105124G>T (p.Glu35042Ter) c.79018G>T (p.Glu26340Ter) c.78877G>T (p.Glu26293Ter) c.104920G>T (p.Glu34974Ter) c.100318G>T (p.Glu33440Ter) c.100315G>T (p.Glu33439Ter) c.97357G>T (p.Glu32453Ter) c.78973G>T (p.Glu26325Ter) c.100468G>T (p.Glu33490Ter) c.100465G>T (p.Glu33489Ter) c.99898G>T (p.Glu33300Ter) c.97240G>T (p.Glu32414Ter) c.97159G>T (p.Glu32387Ter) c.78922G>T (p.Glu26308Ter) c.68776G>T (p.Glu22926Ter) | gnomAD v4 |
2 | g.178530588C= | CA1310514784 | TTN,TTN-AS1 | c.98323G= (p.Glu32775=) c.79408G= (p.Glu26470=) c.79207G= (p.Glu26403=) c.78832G= (p.Glu26278=) c.106027G= (p.Glu35343=) c.101104G= (p.Glu33702=) n.446+6952C= n.220-5144C= c.105124G= (p.Glu35042=) c.79018G= (p.Glu26340=) c.78877G= (p.Glu26293=) c.104920G= (p.Glu34974=) c.100318G= (p.Glu33440=) c.100315G= (p.Glu33439=) c.97357G= (p.Glu32453=) c.78973G= (p.Glu26325=) c.100468G= (p.Glu33490=) c.100465G= (p.Glu33489=) c.99898G= (p.Glu33300=) c.97240G= (p.Glu32414=) c.97159G= (p.Glu32387=) c.78922G= (p.Glu26308=) c.68776G= (p.Glu22926=) | |
2 | g.178530588C>G | CA349407192 | TTN,TTN-AS1 | c.98323G>C (p.Glu32775Gln) c.79408G>C (p.Glu26470Gln) c.79207G>C (p.Glu26403Gln) c.78832G>C (p.Glu26278Gln) c.106027G>C (p.Glu35343Gln) c.101104G>C (p.Glu33702Gln) n.446+6952C>G n.220-5144C>G c.105124G>C (p.Glu35042Gln) c.79018G>C (p.Glu26340Gln) c.78877G>C (p.Glu26293Gln) c.104920G>C (p.Glu34974Gln) c.100318G>C (p.Glu33440Gln) c.100315G>C (p.Glu33439Gln) c.97357G>C (p.Glu32453Gln) c.78973G>C (p.Glu26325Gln) c.100468G>C (p.Glu33490Gln) c.100465G>C (p.Glu33489Gln) c.99898G>C (p.Glu33300Gln) c.97240G>C (p.Glu32414Gln) c.97159G>C (p.Glu32387Gln) c.78922G>C (p.Glu26308Gln) c.68776G>C (p.Glu22926Gln) | |
2 | g.178530588C>T | CA1985175 | TTN,TTN-AS1 | c.98323G>A (p.Glu32775Lys) c.79408G>A (p.Glu26470Lys) c.79207G>A (p.Glu26403Lys) c.78832G>A (p.Glu26278Lys) c.106027G>A (p.Glu35343Lys) c.101104G>A (p.Glu33702Lys) n.446+6952C>T n.220-5144C>T c.105124G>A (p.Glu35042Lys) c.79018G>A (p.Glu26340Lys) c.78877G>A (p.Glu26293Lys) c.104920G>A (p.Glu34974Lys) c.100318G>A (p.Glu33440Lys) c.100315G>A (p.Glu33439Lys) c.97357G>A (p.Glu32453Lys) c.78973G>A (p.Glu26325Lys) c.100468G>A (p.Glu33490Lys) c.100465G>A (p.Glu33489Lys) c.99898G>A (p.Glu33300Lys) c.97240G>A (p.Glu32414Lys) c.97159G>A (p.Glu32387Lys) c.78922G>A (p.Glu26308Lys) c.68776G>A (p.Glu22926Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530589A>C | CA349407193 | TTN,TTN-AS1 | c.98322T>G (p.Tyr32774Ter) c.79407T>G (p.Tyr26469Ter) c.79206T>G (p.Tyr26402Ter) c.78831T>G (p.Tyr26277Ter) c.106026T>G (p.Tyr35342Ter) c.101103T>G (p.Tyr33701Ter) n.446+6953A>C n.220-5143A>C c.105123T>G (p.Tyr35041Ter) c.79017T>G (p.Tyr26339Ter) c.78876T>G (p.Tyr26292Ter) c.104919T>G (p.Tyr34973Ter) c.100317T>G (p.Tyr33439Ter) c.100314T>G (p.Tyr33438Ter) c.97356T>G (p.Tyr32452Ter) c.78972T>G (p.Tyr26324Ter) c.100467T>G (p.Tyr33489Ter) c.100464T>G (p.Tyr33488Ter) c.99897T>G (p.Tyr33299Ter) c.97239T>G (p.Tyr32413Ter) c.97158T>G (p.Tyr32386Ter) c.78921T>G (p.Tyr26307Ter) c.68775T>G (p.Tyr22925Ter) | |
2 | g.178530589A>G | CA430235479 | TTN,TTN-AS1 | c.98322T>C (p.Tyr32774=) c.79407T>C (p.Tyr26469=) c.79206T>C (p.Tyr26402=) c.78831T>C (p.Tyr26277=) c.106026T>C (p.Tyr35342=) c.101103T>C (p.Tyr33701=) n.446+6953A>G n.220-5143A>G c.105123T>C (p.Tyr35041=) c.79017T>C (p.Tyr26339=) c.78876T>C (p.Tyr26292=) c.104919T>C (p.Tyr34973=) c.100317T>C (p.Tyr33439=) c.100314T>C (p.Tyr33438=) c.97356T>C (p.Tyr32452=) c.78972T>C (p.Tyr26324=) c.100467T>C (p.Tyr33489=) c.100464T>C (p.Tyr33488=) c.99897T>C (p.Tyr33299=) c.97239T>C (p.Tyr32413=) c.97158T>C (p.Tyr32386=) c.78921T>C (p.Tyr26307=) c.68775T>C (p.Tyr22925=) | gnomAD v4 |
2 | g.178530589A>T | CA349407194 | TTN,TTN-AS1 | c.98322T>A (p.Tyr32774Ter) c.79407T>A (p.Tyr26469Ter) c.79206T>A (p.Tyr26402Ter) c.78831T>A (p.Tyr26277Ter) c.106026T>A (p.Tyr35342Ter) c.101103T>A (p.Tyr33701Ter) n.446+6953A>T n.220-5143A>T c.105123T>A (p.Tyr35041Ter) c.79017T>A (p.Tyr26339Ter) c.78876T>A (p.Tyr26292Ter) c.104919T>A (p.Tyr34973Ter) c.100317T>A (p.Tyr33439Ter) c.100314T>A (p.Tyr33438Ter) c.97356T>A (p.Tyr32452Ter) c.78972T>A (p.Tyr26324Ter) c.100467T>A (p.Tyr33489Ter) c.100464T>A (p.Tyr33488Ter) c.99897T>A (p.Tyr33299Ter) c.97239T>A (p.Tyr32413Ter) c.97158T>A (p.Tyr32386Ter) c.78921T>A (p.Tyr26307Ter) c.68775T>A (p.Tyr22925Ter) | |
2 | g.178530590T>A | CA349407195 | TTN,TTN-AS1 | c.98321A>T (p.Tyr32774Phe) c.79406A>T (p.Tyr26469Phe) c.79205A>T (p.Tyr26402Phe) c.78830A>T (p.Tyr26277Phe) c.106025A>T (p.Tyr35342Phe) c.101102A>T (p.Tyr33701Phe) n.446+6954T>A n.220-5142T>A c.105122A>T (p.Tyr35041Phe) c.79016A>T (p.Tyr26339Phe) c.78875A>T (p.Tyr26292Phe) c.104918A>T (p.Tyr34973Phe) c.100316A>T (p.Tyr33439Phe) c.100313A>T (p.Tyr33438Phe) c.97355A>T (p.Tyr32452Phe) c.78971A>T (p.Tyr26324Phe) c.100466A>T (p.Tyr33489Phe) c.100463A>T (p.Tyr33488Phe) c.99896A>T (p.Tyr33299Phe) c.97238A>T (p.Tyr32413Phe) c.97157A>T (p.Tyr32386Phe) c.78920A>T (p.Tyr26307Phe) c.68774A>T (p.Tyr22925Phe) | |
2 | g.178530590T>C | CA16610281 | TTN,TTN-AS1 | c.98321A>G (p.Tyr32774Cys) c.79406A>G (p.Tyr26469Cys) c.79205A>G (p.Tyr26402Cys) c.78830A>G (p.Tyr26277Cys) c.106025A>G (p.Tyr35342Cys) c.101102A>G (p.Tyr33701Cys) n.446+6954T>C n.220-5142T>C c.105122A>G (p.Tyr35041Cys) c.79016A>G (p.Tyr26339Cys) c.78875A>G (p.Tyr26292Cys) c.104918A>G (p.Tyr34973Cys) c.100316A>G (p.Tyr33439Cys) c.100313A>G (p.Tyr33438Cys) c.97355A>G (p.Tyr32452Cys) c.78971A>G (p.Tyr26324Cys) c.100466A>G (p.Tyr33489Cys) c.100463A>G (p.Tyr33488Cys) c.99896A>G (p.Tyr33299Cys) c.97238A>G (p.Tyr32413Cys) c.97157A>G (p.Tyr32386Cys) c.78920A>G (p.Tyr26307Cys) c.68774A>G (p.Tyr22925Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530590T>G | CA349407196 | TTN,TTN-AS1 | c.98321A>C (p.Tyr32774Ser) c.79406A>C (p.Tyr26469Ser) c.79205A>C (p.Tyr26402Ser) c.78830A>C (p.Tyr26277Ser) c.106025A>C (p.Tyr35342Ser) c.101102A>C (p.Tyr33701Ser) n.446+6954T>G n.220-5142T>G c.105122A>C (p.Tyr35041Ser) c.79016A>C (p.Tyr26339Ser) c.78875A>C (p.Tyr26292Ser) c.104918A>C (p.Tyr34973Ser) c.100316A>C (p.Tyr33439Ser) c.100313A>C (p.Tyr33438Ser) c.97355A>C (p.Tyr32452Ser) c.78971A>C (p.Tyr26324Ser) c.100466A>C (p.Tyr33489Ser) c.100463A>C (p.Tyr33488Ser) c.99896A>C (p.Tyr33299Ser) c.97238A>C (p.Tyr32413Ser) c.97157A>C (p.Tyr32386Ser) c.78920A>C (p.Tyr26307Ser) c.68774A>C (p.Tyr22925Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530590T= | CA1310514788 | TTN,TTN-AS1 | c.98321A= (p.Tyr32774=) c.79406A= (p.Tyr26469=) c.79205A= (p.Tyr26402=) c.78830A= (p.Tyr26277=) c.106025A= (p.Tyr35342=) c.101102A= (p.Tyr33701=) n.446+6954T= n.220-5142T= c.105122A= (p.Tyr35041=) c.79016A= (p.Tyr26339=) c.78875A= (p.Tyr26292=) c.104918A= (p.Tyr34973=) c.100316A= (p.Tyr33439=) c.100313A= (p.Tyr33438=) c.97355A= (p.Tyr32452=) c.78971A= (p.Tyr26324=) c.100466A= (p.Tyr33489=) c.100463A= (p.Tyr33488=) c.99896A= (p.Tyr33299=) c.97238A= (p.Tyr32413=) c.97157A= (p.Tyr32386=) c.78920A= (p.Tyr26307=) c.68774A= (p.Tyr22925=) | |
2 | g.178530590_178530591delinsTA | CA1310514787 | TTN,TTN-AS1 | c.98320_98321delinsTA (p.Tyr32774=) c.79405_79406delinsTA (p.Tyr26469=) c.79204_79205delinsTA (p.Tyr26402=) c.78829_78830delinsTA (p.Tyr26277=) c.106024_106025delinsTA (p.Tyr35342=) c.101101_101102delinsTA (p.Tyr33701=) n.446+6954_446+6955delinsTA n.220-5142_220-5141delinsTA c.105121_105122delinsTA (p.Tyr35041=) c.79015_79016delinsTA (p.Tyr26339=) c.78874_78875delinsTA (p.Tyr26292=) c.104917_104918delinsTA (p.Tyr34973=) c.100315_100316delinsTA (p.Tyr33439=) c.100312_100313delinsTA (p.Tyr33438=) c.97354_97355delinsTA (p.Tyr32452=) c.78970_78971delinsTA (p.Tyr26324=) c.100465_100466delinsTA (p.Tyr33489=) c.100462_100463delinsTA (p.Tyr33488=) c.99895_99896delinsTA (p.Tyr33299=) c.97237_97238delinsTA (p.Tyr32413=) c.97156_97157delinsTA (p.Tyr32386=) c.78919_78920delinsTA (p.Tyr26307=) c.68773_68774delinsTA (p.Tyr22925=) | |
2 | g.178530591del | CA1985176 | TTN,TTN-AS1 | c.98320del (p.Tyr32774MetfsTer?) c.79405del (p.Tyr26469MetfsTer?) c.79204del (p.Tyr26402MetfsTer?) c.78829del (p.Tyr26277MetfsTer?) c.106024del (p.Tyr35342MetfsTer?) c.101101del (p.Tyr33701MetfsTer?) n.446+6955del n.220-5141del c.105121del (p.Tyr35041MetfsTer?) c.79015del (p.Tyr26339MetfsTer?) c.78874del (p.Tyr26292MetfsTer?) c.104917del (p.Tyr34973MetfsTer?) c.100315del (p.Tyr33439MetfsTer?) c.100312del (p.Tyr33438MetfsTer?) c.97354del (p.Tyr32452MetfsTer?) c.78970del (p.Tyr26324MetfsTer?) c.100465del (p.Tyr33489MetfsTer?) c.100462del (p.Tyr33488MetfsTer?) c.99895del (p.Tyr33299MetfsTer?) c.97237del (p.Tyr32413MetfsTer?) c.97156del (p.Tyr32386MetfsTer?) c.78919del (p.Tyr26307MetfsTer?) c.68773del (p.Tyr22925MetfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530591A>C | CA349407199 | TTN,TTN-AS1 | c.98320T>G (p.Tyr32774Asp) c.79405T>G (p.Tyr26469Asp) c.79204T>G (p.Tyr26402Asp) c.78829T>G (p.Tyr26277Asp) c.106024T>G (p.Tyr35342Asp) c.101101T>G (p.Tyr33701Asp) n.446+6955A>C n.220-5141A>C c.105121T>G (p.Tyr35041Asp) c.79015T>G (p.Tyr26339Asp) c.78874T>G (p.Tyr26292Asp) c.104917T>G (p.Tyr34973Asp) c.100315T>G (p.Tyr33439Asp) c.100312T>G (p.Tyr33438Asp) c.97354T>G (p.Tyr32452Asp) c.78970T>G (p.Tyr26324Asp) c.100465T>G (p.Tyr33489Asp) c.100462T>G (p.Tyr33488Asp) c.99895T>G (p.Tyr33299Asp) c.97237T>G (p.Tyr32413Asp) c.97156T>G (p.Tyr32386Asp) c.78919T>G (p.Tyr26307Asp) c.68773T>G (p.Tyr22925Asp) | |
2 | g.178530591A>G | CA349407197 | TTN,TTN-AS1 | c.98320T>C (p.Tyr32774His) c.79405T>C (p.Tyr26469His) c.79204T>C (p.Tyr26402His) c.78829T>C (p.Tyr26277His) c.106024T>C (p.Tyr35342His) c.101101T>C (p.Tyr33701His) n.446+6955A>G n.220-5141A>G c.105121T>C (p.Tyr35041His) c.79015T>C (p.Tyr26339His) c.78874T>C (p.Tyr26292His) c.104917T>C (p.Tyr34973His) c.100315T>C (p.Tyr33439His) c.100312T>C (p.Tyr33438His) c.97354T>C (p.Tyr32452His) c.78970T>C (p.Tyr26324His) c.100465T>C (p.Tyr33489His) c.100462T>C (p.Tyr33488His) c.99895T>C (p.Tyr33299His) c.97237T>C (p.Tyr32413His) c.97156T>C (p.Tyr32386His) c.78919T>C (p.Tyr26307His) c.68773T>C (p.Tyr22925His) | |
2 | g.178530591A>T | CA349407198 | TTN,TTN-AS1 | c.98320T>A (p.Tyr32774Asn) c.79405T>A (p.Tyr26469Asn) c.79204T>A (p.Tyr26402Asn) c.78829T>A (p.Tyr26277Asn) c.106024T>A (p.Tyr35342Asn) c.101101T>A (p.Tyr33701Asn) n.446+6955A>T n.220-5141A>T c.105121T>A (p.Tyr35041Asn) c.79015T>A (p.Tyr26339Asn) c.78874T>A (p.Tyr26292Asn) c.104917T>A (p.Tyr34973Asn) c.100315T>A (p.Tyr33439Asn) c.100312T>A (p.Tyr33438Asn) c.97354T>A (p.Tyr32452Asn) c.78970T>A (p.Tyr26324Asn) c.100465T>A (p.Tyr33489Asn) c.100462T>A (p.Tyr33488Asn) c.99895T>A (p.Tyr33299Asn) c.97237T>A (p.Tyr32413Asn) c.97156T>A (p.Tyr32386Asn) c.78919T>A (p.Tyr26307Asn) c.68773T>A (p.Tyr22925Asn) | |
2 | g.178530592G>A | CA430235487 | TTN,TTN-AS1 | c.98319C>T (p.Thr32773=) c.79404C>T (p.Thr26468=) c.79203C>T (p.Thr26401=) c.78828C>T (p.Thr26276=) c.106023C>T (p.Thr35341=) c.101100C>T (p.Thr33700=) n.446+6956G>A n.220-5140G>A c.105120C>T (p.Thr35040=) c.79014C>T (p.Thr26338=) c.78873C>T (p.Thr26291=) c.104916C>T (p.Thr34972=) c.100314C>T (p.Thr33438=) c.100311C>T (p.Thr33437=) c.97353C>T (p.Thr32451=) c.78969C>T (p.Thr26323=) c.100464C>T (p.Thr33488=) c.100461C>T (p.Thr33487=) c.99894C>T (p.Thr33298=) c.97236C>T (p.Thr32412=) c.97155C>T (p.Thr32385=) c.78918C>T (p.Thr26306=) c.68772C>T (p.Thr22924=) | |
2 | g.178530592G>C | CA430235488 | TTN,TTN-AS1 | c.98319C>G (p.Thr32773=) c.79404C>G (p.Thr26468=) c.79203C>G (p.Thr26401=) c.78828C>G (p.Thr26276=) c.106023C>G (p.Thr35341=) c.101100C>G (p.Thr33700=) n.446+6956G>C n.220-5140G>C c.105120C>G (p.Thr35040=) c.79014C>G (p.Thr26338=) c.78873C>G (p.Thr26291=) c.104916C>G (p.Thr34972=) c.100314C>G (p.Thr33438=) c.100311C>G (p.Thr33437=) c.97353C>G (p.Thr32451=) c.78969C>G (p.Thr26323=) c.100464C>G (p.Thr33488=) c.100461C>G (p.Thr33487=) c.99894C>G (p.Thr33298=) c.97236C>G (p.Thr32412=) c.97155C>G (p.Thr32385=) c.78918C>G (p.Thr26306=) c.68772C>G (p.Thr22924=) | |
2 | g.178530592G= | CA1310514793 | TTN,TTN-AS1 | c.98319C= (p.Thr32773=) c.79404C= (p.Thr26468=) c.79203C= (p.Thr26401=) c.78828C= (p.Thr26276=) c.106023C= (p.Thr35341=) c.101100C= (p.Thr33700=) n.446+6956G= n.220-5140G= c.105120C= (p.Thr35040=) c.79014C= (p.Thr26338=) c.78873C= (p.Thr26291=) c.104916C= (p.Thr34972=) c.100314C= (p.Thr33438=) c.100311C= (p.Thr33437=) c.97353C= (p.Thr32451=) c.78969C= (p.Thr26323=) c.100464C= (p.Thr33488=) c.100461C= (p.Thr33487=) c.99894C= (p.Thr33298=) c.97236C= (p.Thr32412=) c.97155C= (p.Thr32385=) c.78918C= (p.Thr26306=) c.68772C= (p.Thr22924=) | |
2 | g.178530592G>T | CA1985177 | TTN,TTN-AS1 | c.98319C>A (p.Thr32773=) c.79404C>A (p.Thr26468=) c.79203C>A (p.Thr26401=) c.78828C>A (p.Thr26276=) c.106023C>A (p.Thr35341=) c.101100C>A (p.Thr33700=) n.446+6956G>T n.220-5140G>T c.105120C>A (p.Thr35040=) c.79014C>A (p.Thr26338=) c.78873C>A (p.Thr26291=) c.104916C>A (p.Thr34972=) c.100314C>A (p.Thr33438=) c.100311C>A (p.Thr33437=) c.97353C>A (p.Thr32451=) c.78969C>A (p.Thr26323=) c.100464C>A (p.Thr33488=) c.100461C>A (p.Thr33487=) c.99894C>A (p.Thr33298=) c.97236C>A (p.Thr32412=) c.97155C>A (p.Thr32385=) c.78918C>A (p.Thr26306=) c.68772C>A (p.Thr22924=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530593G>A | CA349407200 | TTN,TTN-AS1 | c.98318C>T (p.Thr32773Ile) c.79403C>T (p.Thr26468Ile) c.79202C>T (p.Thr26401Ile) c.78827C>T (p.Thr26276Ile) c.106022C>T (p.Thr35341Ile) c.101099C>T (p.Thr33700Ile) n.446+6957G>A n.220-5139G>A c.105119C>T (p.Thr35040Ile) c.79013C>T (p.Thr26338Ile) c.78872C>T (p.Thr26291Ile) c.104915C>T (p.Thr34972Ile) c.100313C>T (p.Thr33438Ile) c.100310C>T (p.Thr33437Ile) c.97352C>T (p.Thr32451Ile) c.78968C>T (p.Thr26323Ile) c.100463C>T (p.Thr33488Ile) c.100460C>T (p.Thr33487Ile) c.99893C>T (p.Thr33298Ile) c.97235C>T (p.Thr32412Ile) c.97154C>T (p.Thr32385Ile) c.78917C>T (p.Thr26306Ile) c.68771C>T (p.Thr22924Ile) | |
2 | g.178530593G>C | CA349407201 | TTN,TTN-AS1 | c.98318C>G (p.Thr32773Ser) c.79403C>G (p.Thr26468Ser) c.79202C>G (p.Thr26401Ser) c.78827C>G (p.Thr26276Ser) c.106022C>G (p.Thr35341Ser) c.101099C>G (p.Thr33700Ser) n.446+6957G>C n.220-5139G>C c.105119C>G (p.Thr35040Ser) c.79013C>G (p.Thr26338Ser) c.78872C>G (p.Thr26291Ser) c.104915C>G (p.Thr34972Ser) c.100313C>G (p.Thr33438Ser) c.100310C>G (p.Thr33437Ser) c.97352C>G (p.Thr32451Ser) c.78968C>G (p.Thr26323Ser) c.100463C>G (p.Thr33488Ser) c.100460C>G (p.Thr33487Ser) c.99893C>G (p.Thr33298Ser) c.97235C>G (p.Thr32412Ser) c.97154C>G (p.Thr32385Ser) c.78917C>G (p.Thr26306Ser) c.68771C>G (p.Thr22924Ser) | ClinVar |
2 | g.178530593G>T | CA349407202 | TTN,TTN-AS1 | c.98318C>A (p.Thr32773Asn) c.79403C>A (p.Thr26468Asn) c.79202C>A (p.Thr26401Asn) c.78827C>A (p.Thr26276Asn) c.106022C>A (p.Thr35341Asn) c.101099C>A (p.Thr33700Asn) n.446+6957G>T n.220-5139G>T c.105119C>A (p.Thr35040Asn) c.79013C>A (p.Thr26338Asn) c.78872C>A (p.Thr26291Asn) c.104915C>A (p.Thr34972Asn) c.100313C>A (p.Thr33438Asn) c.100310C>A (p.Thr33437Asn) c.97352C>A (p.Thr32451Asn) c.78968C>A (p.Thr26323Asn) c.100463C>A (p.Thr33488Asn) c.100460C>A (p.Thr33487Asn) c.99893C>A (p.Thr33298Asn) c.97235C>A (p.Thr32412Asn) c.97154C>A (p.Thr32385Asn) c.78917C>A (p.Thr26306Asn) c.68771C>A (p.Thr22924Asn) | |
2 | g.178530594T>A | CA349407203 | TTN,TTN-AS1 | c.98317A>T (p.Thr32773Ser) c.79402A>T (p.Thr26468Ser) c.79201A>T (p.Thr26401Ser) c.78826A>T (p.Thr26276Ser) c.106021A>T (p.Thr35341Ser) c.101098A>T (p.Thr33700Ser) n.446+6958T>A n.220-5138T>A c.105118A>T (p.Thr35040Ser) c.79012A>T (p.Thr26338Ser) c.78871A>T (p.Thr26291Ser) c.104914A>T (p.Thr34972Ser) c.100312A>T (p.Thr33438Ser) c.100309A>T (p.Thr33437Ser) c.97351A>T (p.Thr32451Ser) c.78967A>T (p.Thr26323Ser) c.100462A>T (p.Thr33488Ser) c.100459A>T (p.Thr33487Ser) c.99892A>T (p.Thr33298Ser) c.97234A>T (p.Thr32412Ser) c.97153A>T (p.Thr32385Ser) c.78916A>T (p.Thr26306Ser) c.68770A>T (p.Thr22924Ser) | |
2 | g.178530594T>C | CA349407204 | TTN,TTN-AS1 | c.98317A>G (p.Thr32773Ala) c.79402A>G (p.Thr26468Ala) c.79201A>G (p.Thr26401Ala) c.78826A>G (p.Thr26276Ala) c.106021A>G (p.Thr35341Ala) c.101098A>G (p.Thr33700Ala) n.446+6958T>C n.220-5138T>C c.105118A>G (p.Thr35040Ala) c.79012A>G (p.Thr26338Ala) c.78871A>G (p.Thr26291Ala) c.104914A>G (p.Thr34972Ala) c.100312A>G (p.Thr33438Ala) c.100309A>G (p.Thr33437Ala) c.97351A>G (p.Thr32451Ala) c.78967A>G (p.Thr26323Ala) c.100462A>G (p.Thr33488Ala) c.100459A>G (p.Thr33487Ala) c.99892A>G (p.Thr33298Ala) c.97234A>G (p.Thr32412Ala) c.97153A>G (p.Thr32385Ala) c.78916A>G (p.Thr26306Ala) c.68770A>G (p.Thr22924Ala) | |
2 | g.178530594T>G | CA349407205 | TTN,TTN-AS1 | c.98317A>C (p.Thr32773Pro) c.79402A>C (p.Thr26468Pro) c.79201A>C (p.Thr26401Pro) c.78826A>C (p.Thr26276Pro) c.106021A>C (p.Thr35341Pro) c.101098A>C (p.Thr33700Pro) n.446+6958T>G n.220-5138T>G c.105118A>C (p.Thr35040Pro) c.79012A>C (p.Thr26338Pro) c.78871A>C (p.Thr26291Pro) c.104914A>C (p.Thr34972Pro) c.100312A>C (p.Thr33438Pro) c.100309A>C (p.Thr33437Pro) c.97351A>C (p.Thr32451Pro) c.78967A>C (p.Thr26323Pro) c.100462A>C (p.Thr33488Pro) c.100459A>C (p.Thr33487Pro) c.99892A>C (p.Thr33298Pro) c.97234A>C (p.Thr32412Pro) c.97153A>C (p.Thr32385Pro) c.78916A>C (p.Thr26306Pro) c.68770A>C (p.Thr22924Pro) | |
2 | g.178530595A= | CA1310514796 | TTN,TTN-AS1 | c.98316T= (p.Gly32772=) c.79401T= (p.Gly26467=) c.79200T= (p.Gly26400=) c.78825T= (p.Gly26275=) c.106020T= (p.Gly35340=) c.101097T= (p.Gly33699=) n.446+6959A= n.220-5137A= c.105117T= (p.Gly35039=) c.79011T= (p.Gly26337=) c.78870T= (p.Gly26290=) c.104913T= (p.Gly34971=) c.100311T= (p.Gly33437=) c.100308T= (p.Gly33436=) c.97350T= (p.Gly32450=) c.78966T= (p.Gly26322=) c.100461T= (p.Gly33487=) c.100458T= (p.Gly33486=) c.99891T= (p.Gly33297=) c.97233T= (p.Gly32411=) c.97152T= (p.Gly32384=) c.78915T= (p.Gly26305=) c.68769T= (p.Gly22923=) | |
2 | g.178530595A>C | CA430235498 | TTN,TTN-AS1 | c.98316T>G (p.Gly32772=) c.79401T>G (p.Gly26467=) c.79200T>G (p.Gly26400=) c.78825T>G (p.Gly26275=) c.106020T>G (p.Gly35340=) c.101097T>G (p.Gly33699=) n.446+6959A>C n.220-5137A>C c.105117T>G (p.Gly35039=) c.79011T>G (p.Gly26337=) c.78870T>G (p.Gly26290=) c.104913T>G (p.Gly34971=) c.100311T>G (p.Gly33437=) c.100308T>G (p.Gly33436=) c.97350T>G (p.Gly32450=) c.78966T>G (p.Gly26322=) c.100461T>G (p.Gly33487=) c.100458T>G (p.Gly33486=) c.99891T>G (p.Gly33297=) c.97233T>G (p.Gly32411=) c.97152T>G (p.Gly32384=) c.78915T>G (p.Gly26305=) c.68769T>G (p.Gly22923=) | |
2 | g.178530595A>G | CA1985178 | TTN,TTN-AS1 | c.98316T>C (p.Gly32772=) c.79401T>C (p.Gly26467=) c.79200T>C (p.Gly26400=) c.78825T>C (p.Gly26275=) c.106020T>C (p.Gly35340=) c.101097T>C (p.Gly33699=) n.446+6959A>G n.220-5137A>G c.105117T>C (p.Gly35039=) c.79011T>C (p.Gly26337=) c.78870T>C (p.Gly26290=) c.104913T>C (p.Gly34971=) c.100311T>C (p.Gly33437=) c.100308T>C (p.Gly33436=) c.97350T>C (p.Gly32450=) c.78966T>C (p.Gly26322=) c.100461T>C (p.Gly33487=) c.100458T>C (p.Gly33486=) c.99891T>C (p.Gly33297=) c.97233T>C (p.Gly32411=) c.97152T>C (p.Gly32384=) c.78915T>C (p.Gly26305=) c.68769T>C (p.Gly22923=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530595A>T | CA430235499 | TTN,TTN-AS1 | c.98316T>A (p.Gly32772=) c.79401T>A (p.Gly26467=) c.79200T>A (p.Gly26400=) c.78825T>A (p.Gly26275=) c.106020T>A (p.Gly35340=) c.101097T>A (p.Gly33699=) n.446+6959A>T n.220-5137A>T c.105117T>A (p.Gly35039=) c.79011T>A (p.Gly26337=) c.78870T>A (p.Gly26290=) c.104913T>A (p.Gly34971=) c.100311T>A (p.Gly33437=) c.100308T>A (p.Gly33436=) c.97350T>A (p.Gly32450=) c.78966T>A (p.Gly26322=) c.100461T>A (p.Gly33487=) c.100458T>A (p.Gly33486=) c.99891T>A (p.Gly33297=) c.97233T>A (p.Gly32411=) c.97152T>A (p.Gly32384=) c.78915T>A (p.Gly26305=) c.68769T>A (p.Gly22923=) | |
2 | g.178530595_178530596delinsAC | CA1310514795 | TTN,TTN-AS1 | c.98315_98316delinsGT (p.Gly32772=) c.79400_79401delinsGT (p.Gly26467=) c.79199_79200delinsGT (p.Gly26400=) c.78824_78825delinsGT (p.Gly26275=) c.106019_106020delinsGT (p.Gly35340=) c.101096_101097delinsGT (p.Gly33699=) n.446+6959_446+6960delinsAC n.220-5137_220-5136delinsAC c.105116_105117delinsGT (p.Gly35039=) c.79010_79011delinsGT (p.Gly26337=) c.78869_78870delinsGT (p.Gly26290=) c.104912_104913delinsGT (p.Gly34971=) c.100310_100311delinsGT (p.Gly33437=) c.100307_100308delinsGT (p.Gly33436=) c.97349_97350delinsGT (p.Gly32450=) c.78965_78966delinsGT (p.Gly26322=) c.100460_100461delinsGT (p.Gly33487=) c.100457_100458delinsGT (p.Gly33486=) c.99890_99891delinsGT (p.Gly33297=) c.97232_97233delinsGT (p.Gly32411=) c.97151_97152delinsGT (p.Gly32384=) c.78914_78915delinsGT (p.Gly26305=) c.68768_68769delinsGT (p.Gly22923=) | |
2 | g.178530596C>A | CA349407206 | TTN,TTN-AS1 | c.98315G>T (p.Gly32772Val) c.79400G>T (p.Gly26467Val) c.79199G>T (p.Gly26400Val) c.78824G>T (p.Gly26275Val) c.106019G>T (p.Gly35340Val) c.101096G>T (p.Gly33699Val) n.446+6960C>A n.220-5136C>A c.105116G>T (p.Gly35039Val) c.79010G>T (p.Gly26337Val) c.78869G>T (p.Gly26290Val) c.104912G>T (p.Gly34971Val) c.100310G>T (p.Gly33437Val) c.100307G>T (p.Gly33436Val) c.97349G>T (p.Gly32450Val) c.78965G>T (p.Gly26322Val) c.100460G>T (p.Gly33487Val) c.100457G>T (p.Gly33486Val) c.99890G>T (p.Gly33297Val) c.97232G>T (p.Gly32411Val) c.97151G>T (p.Gly32384Val) c.78914G>T (p.Gly26305Val) c.68768G>T (p.Gly22923Val) | ClinVar |
2 | g.178530596C= | CA1310514799 | TTN,TTN-AS1 | c.98315G= (p.Gly32772=) c.79400G= (p.Gly26467=) c.79199G= (p.Gly26400=) c.78824G= (p.Gly26275=) c.106019G= (p.Gly35340=) c.101096G= (p.Gly33699=) n.446+6960C= n.220-5136C= c.105116G= (p.Gly35039=) c.79010G= (p.Gly26337=) c.78869G= (p.Gly26290=) c.104912G= (p.Gly34971=) c.100310G= (p.Gly33437=) c.100307G= (p.Gly33436=) c.97349G= (p.Gly32450=) c.78965G= (p.Gly26322=) c.100460G= (p.Gly33487=) c.100457G= (p.Gly33486=) c.99890G= (p.Gly33297=) c.97232G= (p.Gly32411=) c.97151G= (p.Gly32384=) c.78914G= (p.Gly26305=) c.68768G= (p.Gly22923=) | |
2 | g.178530596C>G | CA349407207 | TTN,TTN-AS1 | c.98315G>C (p.Gly32772Ala) c.79400G>C (p.Gly26467Ala) c.79199G>C (p.Gly26400Ala) c.78824G>C (p.Gly26275Ala) c.106019G>C (p.Gly35340Ala) c.101096G>C (p.Gly33699Ala) n.446+6960C>G n.220-5136C>G c.105116G>C (p.Gly35039Ala) c.79010G>C (p.Gly26337Ala) c.78869G>C (p.Gly26290Ala) c.104912G>C (p.Gly34971Ala) c.100310G>C (p.Gly33437Ala) c.100307G>C (p.Gly33436Ala) c.97349G>C (p.Gly32450Ala) c.78965G>C (p.Gly26322Ala) c.100460G>C (p.Gly33487Ala) c.100457G>C (p.Gly33486Ala) c.99890G>C (p.Gly33297Ala) c.97232G>C (p.Gly32411Ala) c.97151G>C (p.Gly32384Ala) c.78914G>C (p.Gly26305Ala) c.68768G>C (p.Gly22923Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530596C>T | CA349407208 | TTN,TTN-AS1 | c.98315G>A (p.Gly32772Asp) c.79400G>A (p.Gly26467Asp) c.79199G>A (p.Gly26400Asp) c.78824G>A (p.Gly26275Asp) c.106019G>A (p.Gly35340Asp) c.101096G>A (p.Gly33699Asp) n.446+6960C>T n.220-5136C>T c.105116G>A (p.Gly35039Asp) c.79010G>A (p.Gly26337Asp) c.78869G>A (p.Gly26290Asp) c.104912G>A (p.Gly34971Asp) c.100310G>A (p.Gly33437Asp) c.100307G>A (p.Gly33436Asp) c.97349G>A (p.Gly32450Asp) c.78965G>A (p.Gly26322Asp) c.100460G>A (p.Gly33487Asp) c.100457G>A (p.Gly33486Asp) c.99890G>A (p.Gly33297Asp) c.97232G>A (p.Gly32411Asp) c.97151G>A (p.Gly32384Asp) c.78914G>A (p.Gly26305Asp) c.68768G>A (p.Gly22923Asp) | gnomAD v4 |
2 | g.178530597del | CA049115 | TTN,TTN-AS1 | c.98315del (p.Gly32772ValfsTer?) c.79400del (p.Gly26467ValfsTer?) c.79199del (p.Gly26400ValfsTer?) c.78824del (p.Gly26275ValfsTer?) c.106019del (p.Gly35340ValfsTer?) c.101096del (p.Gly33699ValfsTer?) n.446+6961del n.220-5135del c.105116del (p.Gly35039ValfsTer?) c.79010del (p.Gly26337ValfsTer?) c.78869del (p.Gly26290ValfsTer?) c.104912del (p.Gly34971ValfsTer?) c.100310del (p.Gly33437ValfsTer?) c.100307del (p.Gly33436ValfsTer?) c.97349del (p.Gly32450ValfsTer?) c.78965del (p.Gly26322ValfsTer?) c.100460del (p.Gly33487ValfsTer?) c.100457del (p.Gly33486ValfsTer?) c.99890del (p.Gly33297ValfsTer?) c.97232del (p.Gly32411ValfsTer?) c.97151del (p.Gly32384ValfsTer?) c.78914del (p.Gly26305ValfsTer?) c.68768del (p.Gly22923ValfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.[178530597del;178569741_178569744del] | CA049121 | TTN,TTN-AS1 | c.[68689_68692del;98315del] (p.Asn22897Ter) c.[49774_49777del;79400del] (p.Asn16592Ter) c.[49573_49576del;79199del] (p.Asn16525Ter) c.[49198_49201del;78824del] (p.Asn16400Ter) c.[76393_76396del;106019del] (p.Asn25465Ter) c.[71470_71473del;101096del] (p.Asn23824Ter) n.[446+6961del;447-1559_447-1556del] n.[220-5135del;2044-12831_2044-12828del] c.[75490_75493del;105116del] (p.Asn25164Ter) c.[49384_49387del;79010del] (p.Asn16462Ter) c.[49243_49246del;78869del] (p.Asn16415Ter) c.[75286_75289del;104912del] (p.Asn25096Ter) c.[70684_70687del;100310del] (p.Asn23562Ter) c.[70681_70684del;100307del] (p.Asn23561Ter) c.[67723_67726del;97349del] (p.Asn22575Ter) c.[49339_49342del;78965del] (p.Asn16447Ter) c.[70834_70837del;100460del] (p.Asn23612Ter) c.[70831_70834del;100457del] (p.Asn23611Ter) c.[70264_70267del;99890del] (p.Asn23422Ter) c.[67606_67609del;97232del] (p.Asn22536Ter) c.[67525_67528del;97151del] (p.Asn22509Ter) c.[49288_49291del;78914del] (p.Asn16430Ter) c.[39142_39145del;68768del] (p.Asn13048Ter) | |
2 | g.178530597C>A | CA349407209 | TTN,TTN-AS1 | c.98314G>T (p.Gly32772Cys) c.79399G>T (p.Gly26467Cys) c.79198G>T (p.Gly26400Cys) c.78823G>T (p.Gly26275Cys) c.106018G>T (p.Gly35340Cys) c.101095G>T (p.Gly33699Cys) n.446+6961C>A n.220-5135C>A c.105115G>T (p.Gly35039Cys) c.79009G>T (p.Gly26337Cys) c.78868G>T (p.Gly26290Cys) c.104911G>T (p.Gly34971Cys) c.100309G>T (p.Gly33437Cys) c.100306G>T (p.Gly33436Cys) c.97348G>T (p.Gly32450Cys) c.78964G>T (p.Gly26322Cys) c.100459G>T (p.Gly33487Cys) c.100456G>T (p.Gly33486Cys) c.99889G>T (p.Gly33297Cys) c.97231G>T (p.Gly32411Cys) c.97150G>T (p.Gly32384Cys) c.78913G>T (p.Gly26305Cys) c.68767G>T (p.Gly22923Cys) | |
2 | g.178530597C= | CA1310514801 | TTN,TTN-AS1 | c.98314G= (p.Gly32772=) c.79399G= (p.Gly26467=) c.79198G= (p.Gly26400=) c.78823G= (p.Gly26275=) c.106018G= (p.Gly35340=) c.101095G= (p.Gly33699=) n.446+6961C= n.220-5135C= c.105115G= (p.Gly35039=) c.79009G= (p.Gly26337=) c.78868G= (p.Gly26290=) c.104911G= (p.Gly34971=) c.100309G= (p.Gly33437=) c.100306G= (p.Gly33436=) c.97348G= (p.Gly32450=) c.78964G= (p.Gly26322=) c.100459G= (p.Gly33487=) c.100456G= (p.Gly33486=) c.99889G= (p.Gly33297=) c.97231G= (p.Gly32411=) c.97150G= (p.Gly32384=) c.78913G= (p.Gly26305=) c.68767G= (p.Gly22923=) | |
2 | g.178530597C>G | CA349407210 | TTN,TTN-AS1 | c.98314G>C (p.Gly32772Arg) c.79399G>C (p.Gly26467Arg) c.79198G>C (p.Gly26400Arg) c.78823G>C (p.Gly26275Arg) c.106018G>C (p.Gly35340Arg) c.101095G>C (p.Gly33699Arg) n.446+6961C>G n.220-5135C>G c.105115G>C (p.Gly35039Arg) c.79009G>C (p.Gly26337Arg) c.78868G>C (p.Gly26290Arg) c.104911G>C (p.Gly34971Arg) c.100309G>C (p.Gly33437Arg) c.100306G>C (p.Gly33436Arg) c.97348G>C (p.Gly32450Arg) c.78964G>C (p.Gly26322Arg) c.100459G>C (p.Gly33487Arg) c.100456G>C (p.Gly33486Arg) c.99889G>C (p.Gly33297Arg) c.97231G>C (p.Gly32411Arg) c.97150G>C (p.Gly32384Arg) c.78913G>C (p.Gly26305Arg) c.68767G>C (p.Gly22923Arg) | |
2 | g.178530597C>T | CA1985179 | TTN,TTN-AS1 | c.98314G>A (p.Gly32772Ser) c.79399G>A (p.Gly26467Ser) c.79198G>A (p.Gly26400Ser) c.78823G>A (p.Gly26275Ser) c.106018G>A (p.Gly35340Ser) c.101095G>A (p.Gly33699Ser) n.446+6961C>T n.220-5135C>T c.105115G>A (p.Gly35039Ser) c.79009G>A (p.Gly26337Ser) c.78868G>A (p.Gly26290Ser) c.104911G>A (p.Gly34971Ser) c.100309G>A (p.Gly33437Ser) c.100306G>A (p.Gly33436Ser) c.97348G>A (p.Gly32450Ser) c.78964G>A (p.Gly26322Ser) c.100459G>A (p.Gly33487Ser) c.100456G>A (p.Gly33486Ser) c.99889G>A (p.Gly33297Ser) c.97231G>A (p.Gly32411Ser) c.97150G>A (p.Gly32384Ser) c.78913G>A (p.Gly26305Ser) c.68767G>A (p.Gly22923Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530598A>C | CA349407212 | TTN,TTN-AS1 | c.98313T>G (p.Asp32771Glu) c.79398T>G (p.Asp26466Glu) c.79197T>G (p.Asp26399Glu) c.78822T>G (p.Asp26274Glu) c.106017T>G (p.Asp35339Glu) c.101094T>G (p.Asp33698Glu) n.446+6962A>C n.220-5134A>C c.105114T>G (p.Asp35038Glu) c.79008T>G (p.Asp26336Glu) c.78867T>G (p.Asp26289Glu) c.104910T>G (p.Asp34970Glu) c.100308T>G (p.Asp33436Glu) c.100305T>G (p.Asp33435Glu) c.97347T>G (p.Asp32449Glu) c.78963T>G (p.Asp26321Glu) c.100458T>G (p.Asp33486Glu) c.100455T>G (p.Asp33485Glu) c.99888T>G (p.Asp33296Glu) c.97230T>G (p.Asp32410Glu) c.97149T>G (p.Asp32383Glu) c.78912T>G (p.Asp26304Glu) c.68766T>G (p.Asp22922Glu) | |
2 | g.178530598A>G | CA430235503 | TTN,TTN-AS1 | c.98313T>C (p.Asp32771=) c.79398T>C (p.Asp26466=) c.79197T>C (p.Asp26399=) c.78822T>C (p.Asp26274=) c.106017T>C (p.Asp35339=) c.101094T>C (p.Asp33698=) n.446+6962A>G n.220-5134A>G c.105114T>C (p.Asp35038=) c.79008T>C (p.Asp26336=) c.78867T>C (p.Asp26289=) c.104910T>C (p.Asp34970=) c.100308T>C (p.Asp33436=) c.100305T>C (p.Asp33435=) c.97347T>C (p.Asp32449=) c.78963T>C (p.Asp26321=) c.100458T>C (p.Asp33486=) c.100455T>C (p.Asp33485=) c.99888T>C (p.Asp33296=) c.97230T>C (p.Asp32410=) c.97149T>C (p.Asp32383=) c.78912T>C (p.Asp26304=) c.68766T>C (p.Asp22922=) | |
2 | g.178530598A>T | CA349407211 | TTN,TTN-AS1 | c.98313T>A (p.Asp32771Glu) c.79398T>A (p.Asp26466Glu) c.79197T>A (p.Asp26399Glu) c.78822T>A (p.Asp26274Glu) c.106017T>A (p.Asp35339Glu) c.101094T>A (p.Asp33698Glu) n.446+6962A>T n.220-5134A>T c.105114T>A (p.Asp35038Glu) c.79008T>A (p.Asp26336Glu) c.78867T>A (p.Asp26289Glu) c.104910T>A (p.Asp34970Glu) c.100308T>A (p.Asp33436Glu) c.100305T>A (p.Asp33435Glu) c.97347T>A (p.Asp32449Glu) c.78963T>A (p.Asp26321Glu) c.100458T>A (p.Asp33486Glu) c.100455T>A (p.Asp33485Glu) c.99888T>A (p.Asp33296Glu) c.97230T>A (p.Asp32410Glu) c.97149T>A (p.Asp32383Glu) c.78912T>A (p.Asp26304Glu) c.68766T>A (p.Asp22922Glu) | |
2 | g.178530599T>A | CA349407214 | TTN,TTN-AS1 | c.98312A>T (p.Asp32771Val) c.79397A>T (p.Asp26466Val) c.79196A>T (p.Asp26399Val) c.78821A>T (p.Asp26274Val) c.106016A>T (p.Asp35339Val) c.101093A>T (p.Asp33698Val) n.446+6963T>A n.220-5133T>A c.105113A>T (p.Asp35038Val) c.79007A>T (p.Asp26336Val) c.78866A>T (p.Asp26289Val) c.104909A>T (p.Asp34970Val) c.100307A>T (p.Asp33436Val) c.100304A>T (p.Asp33435Val) c.97346A>T (p.Asp32449Val) c.78962A>T (p.Asp26321Val) c.100457A>T (p.Asp33486Val) c.100454A>T (p.Asp33485Val) c.99887A>T (p.Asp33296Val) c.97229A>T (p.Asp32410Val) c.97148A>T (p.Asp32383Val) c.78911A>T (p.Asp26304Val) c.68765A>T (p.Asp22922Val) | |
2 | g.178530599T>C | CA349407213 | TTN,TTN-AS1 | c.98312A>G (p.Asp32771Gly) c.79397A>G (p.Asp26466Gly) c.79196A>G (p.Asp26399Gly) c.78821A>G (p.Asp26274Gly) c.106016A>G (p.Asp35339Gly) c.101093A>G (p.Asp33698Gly) n.446+6963T>C n.220-5133T>C c.105113A>G (p.Asp35038Gly) c.79007A>G (p.Asp26336Gly) c.78866A>G (p.Asp26289Gly) c.104909A>G (p.Asp34970Gly) c.100307A>G (p.Asp33436Gly) c.100304A>G (p.Asp33435Gly) c.97346A>G (p.Asp32449Gly) c.78962A>G (p.Asp26321Gly) c.100457A>G (p.Asp33486Gly) c.100454A>G (p.Asp33485Gly) c.99887A>G (p.Asp33296Gly) c.97229A>G (p.Asp32410Gly) c.97148A>G (p.Asp32383Gly) c.78911A>G (p.Asp26304Gly) c.68765A>G (p.Asp22922Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530599T>G | CA349407215 | TTN,TTN-AS1 | c.98312A>C (p.Asp32771Ala) c.79397A>C (p.Asp26466Ala) c.79196A>C (p.Asp26399Ala) c.78821A>C (p.Asp26274Ala) c.106016A>C (p.Asp35339Ala) c.101093A>C (p.Asp33698Ala) n.446+6963T>G n.220-5133T>G c.105113A>C (p.Asp35038Ala) c.79007A>C (p.Asp26336Ala) c.78866A>C (p.Asp26289Ala) c.104909A>C (p.Asp34970Ala) c.100307A>C (p.Asp33436Ala) c.100304A>C (p.Asp33435Ala) c.97346A>C (p.Asp32449Ala) c.78962A>C (p.Asp26321Ala) c.100457A>C (p.Asp33486Ala) c.100454A>C (p.Asp33485Ala) c.99887A>C (p.Asp33296Ala) c.97229A>C (p.Asp32410Ala) c.97148A>C (p.Asp32383Ala) c.78911A>C (p.Asp26304Ala) c.68765A>C (p.Asp22922Ala) | |
2 | g.178530599T= | CA1310514805 | TTN,TTN-AS1 | c.98312A= (p.Asp32771=) c.79397A= (p.Asp26466=) c.79196A= (p.Asp26399=) c.78821A= (p.Asp26274=) c.106016A= (p.Asp35339=) c.101093A= (p.Asp33698=) n.446+6963T= n.220-5133T= c.105113A= (p.Asp35038=) c.79007A= (p.Asp26336=) c.78866A= (p.Asp26289=) c.104909A= (p.Asp34970=) c.100307A= (p.Asp33436=) c.100304A= (p.Asp33435=) c.97346A= (p.Asp32449=) c.78962A= (p.Asp26321=) c.100457A= (p.Asp33486=) c.100454A= (p.Asp33485=) c.99887A= (p.Asp33296=) c.97229A= (p.Asp32410=) c.97148A= (p.Asp32383=) c.78911A= (p.Asp26304=) c.68765A= (p.Asp22922=) | |
2 | g.178530599_178530600delinsTC | CA1310514804 | TTN,TTN-AS1 | c.98311_98312delinsGA (p.Asp32771=) c.79396_79397delinsGA (p.Asp26466=) c.79195_79196delinsGA (p.Asp26399=) c.78820_78821delinsGA (p.Asp26274=) c.106015_106016delinsGA (p.Asp35339=) c.101092_101093delinsGA (p.Asp33698=) n.446+6963_446+6964delinsTC n.220-5133_220-5132delinsTC c.105112_105113delinsGA (p.Asp35038=) c.79006_79007delinsGA (p.Asp26336=) c.78865_78866delinsGA (p.Asp26289=) c.104908_104909delinsGA (p.Asp34970=) c.100306_100307delinsGA (p.Asp33436=) c.100303_100304delinsGA (p.Asp33435=) c.97345_97346delinsGA (p.Asp32449=) c.78961_78962delinsGA (p.Asp26321=) c.100456_100457delinsGA (p.Asp33486=) c.100453_100454delinsGA (p.Asp33485=) c.99886_99887delinsGA (p.Asp33296=) c.97228_97229delinsGA (p.Asp32410=) c.97147_97148delinsGA (p.Asp32383=) c.78910_78911delinsGA (p.Asp26304=) c.68764_68765delinsGA (p.Asp22922=) | |
2 | g.178530600del | CA913189591 | TTN,TTN-AS1 | c.98311del (p.Asp32771MetfsTer?) c.79396del (p.Asp26466MetfsTer?) c.79195del (p.Asp26399MetfsTer?) c.78820del (p.Asp26274MetfsTer?) c.106015del (p.Asp35339MetfsTer?) c.101092del (p.Asp33698MetfsTer?) n.446+6964del n.220-5132del c.105112del (p.Asp35038MetfsTer?) c.79006del (p.Asp26336MetfsTer?) c.78865del (p.Asp26289MetfsTer?) c.104908del (p.Asp34970MetfsTer?) c.100306del (p.Asp33436MetfsTer?) c.100303del (p.Asp33435MetfsTer?) c.97345del (p.Asp32449MetfsTer?) c.78961del (p.Asp26321MetfsTer?) c.100456del (p.Asp33486MetfsTer?) c.100453del (p.Asp33485MetfsTer?) c.99886del (p.Asp33296MetfsTer?) c.97228del (p.Asp32410MetfsTer?) c.97147del (p.Asp32383MetfsTer?) c.78910del (p.Asp26304MetfsTer?) c.68764del (p.Asp22922MetfsTer?) | ClinVar dbSNP |
2 | g.178530600C>A | CA349407216 | TTN,TTN-AS1 | c.98311G>T (p.Asp32771Tyr) c.79396G>T (p.Asp26466Tyr) c.79195G>T (p.Asp26399Tyr) c.78820G>T (p.Asp26274Tyr) c.106015G>T (p.Asp35339Tyr) c.101092G>T (p.Asp33698Tyr) n.446+6964C>A n.220-5132C>A c.105112G>T (p.Asp35038Tyr) c.79006G>T (p.Asp26336Tyr) c.78865G>T (p.Asp26289Tyr) c.104908G>T (p.Asp34970Tyr) c.100306G>T (p.Asp33436Tyr) c.100303G>T (p.Asp33435Tyr) c.97345G>T (p.Asp32449Tyr) c.78961G>T (p.Asp26321Tyr) c.100456G>T (p.Asp33486Tyr) c.100453G>T (p.Asp33485Tyr) c.99886G>T (p.Asp33296Tyr) c.97228G>T (p.Asp32410Tyr) c.97147G>T (p.Asp32383Tyr) c.78910G>T (p.Asp26304Tyr) c.68764G>T (p.Asp22922Tyr) | |
2 | g.178530600C>G | CA349407217 | TTN,TTN-AS1 | c.98311G>C (p.Asp32771His) c.79396G>C (p.Asp26466His) c.79195G>C (p.Asp26399His) c.78820G>C (p.Asp26274His) c.106015G>C (p.Asp35339His) c.101092G>C (p.Asp33698His) n.446+6964C>G n.220-5132C>G c.105112G>C (p.Asp35038His) c.79006G>C (p.Asp26336His) c.78865G>C (p.Asp26289His) c.104908G>C (p.Asp34970His) c.100306G>C (p.Asp33436His) c.100303G>C (p.Asp33435His) c.97345G>C (p.Asp32449His) c.78961G>C (p.Asp26321His) c.100456G>C (p.Asp33486His) c.100453G>C (p.Asp33485His) c.99886G>C (p.Asp33296His) c.97228G>C (p.Asp32410His) c.97147G>C (p.Asp32383His) c.78910G>C (p.Asp26304His) c.68764G>C (p.Asp22922His) | |
2 | g.178530600C>T | CA349407218 | TTN,TTN-AS1 | c.98311G>A (p.Asp32771Asn) c.79396G>A (p.Asp26466Asn) c.79195G>A (p.Asp26399Asn) c.78820G>A (p.Asp26274Asn) c.106015G>A (p.Asp35339Asn) c.101092G>A (p.Asp33698Asn) n.446+6964C>T n.220-5132C>T c.105112G>A (p.Asp35038Asn) c.79006G>A (p.Asp26336Asn) c.78865G>A (p.Asp26289Asn) c.104908G>A (p.Asp34970Asn) c.100306G>A (p.Asp33436Asn) c.100303G>A (p.Asp33435Asn) c.97345G>A (p.Asp32449Asn) c.78961G>A (p.Asp26321Asn) c.100456G>A (p.Asp33486Asn) c.100453G>A (p.Asp33485Asn) c.99886G>A (p.Asp33296Asn) c.97228G>A (p.Asp32410Asn) c.97147G>A (p.Asp32383Asn) c.78910G>A (p.Asp26304Asn) c.68764G>A (p.Asp22922Asn) | |
2 | g.178530601T>A | CA430235513 | TTN,TTN-AS1 | c.98310A>T (p.Ala32770=) c.79395A>T (p.Ala26465=) c.79194A>T (p.Ala26398=) c.78819A>T (p.Ala26273=) c.106014A>T (p.Ala35338=) c.101091A>T (p.Ala33697=) n.446+6965T>A n.220-5131T>A c.105111A>T (p.Ala35037=) c.79005A>T (p.Ala26335=) c.78864A>T (p.Ala26288=) c.104907A>T (p.Ala34969=) c.100305A>T (p.Ala33435=) c.100302A>T (p.Ala33434=) c.97344A>T (p.Ala32448=) c.78960A>T (p.Ala26320=) c.100455A>T (p.Ala33485=) c.100452A>T (p.Ala33484=) c.99885A>T (p.Ala33295=) c.97227A>T (p.Ala32409=) c.97146A>T (p.Ala32382=) c.78909A>T (p.Ala26303=) c.68763A>T (p.Ala22921=) | |
2 | g.178530601T>C | CA430235514 | TTN,TTN-AS1 | c.98310A>G (p.Ala32770=) c.79395A>G (p.Ala26465=) c.79194A>G (p.Ala26398=) c.78819A>G (p.Ala26273=) c.106014A>G (p.Ala35338=) c.101091A>G (p.Ala33697=) n.446+6965T>C n.220-5131T>C c.105111A>G (p.Ala35037=) c.79005A>G (p.Ala26335=) c.78864A>G (p.Ala26288=) c.104907A>G (p.Ala34969=) c.100305A>G (p.Ala33435=) c.100302A>G (p.Ala33434=) c.97344A>G (p.Ala32448=) c.78960A>G (p.Ala26320=) c.100455A>G (p.Ala33485=) c.100452A>G (p.Ala33484=) c.99885A>G (p.Ala33295=) c.97227A>G (p.Ala32409=) c.97146A>G (p.Ala32382=) c.78909A>G (p.Ala26303=) c.68763A>G (p.Ala22921=) | gnomAD v4 |
2 | g.178530601T>G | CA430235512 | TTN,TTN-AS1 | c.98310A>C (p.Ala32770=) c.79395A>C (p.Ala26465=) c.79194A>C (p.Ala26398=) c.78819A>C (p.Ala26273=) c.106014A>C (p.Ala35338=) c.101091A>C (p.Ala33697=) n.446+6965T>G n.220-5131T>G c.105111A>C (p.Ala35037=) c.79005A>C (p.Ala26335=) c.78864A>C (p.Ala26288=) c.104907A>C (p.Ala34969=) c.100305A>C (p.Ala33435=) c.100302A>C (p.Ala33434=) c.97344A>C (p.Ala32448=) c.78960A>C (p.Ala26320=) c.100455A>C (p.Ala33485=) c.100452A>C (p.Ala33484=) c.99885A>C (p.Ala33295=) c.97227A>C (p.Ala32409=) c.97146A>C (p.Ala32382=) c.78909A>C (p.Ala26303=) c.68763A>C (p.Ala22921=) | |
2 | g.178530602G>A | CA349407219 | TTN,TTN-AS1 | c.98309C>T (p.Ala32770Val) c.79394C>T (p.Ala26465Val) c.79193C>T (p.Ala26398Val) c.78818C>T (p.Ala26273Val) c.106013C>T (p.Ala35338Val) c.101090C>T (p.Ala33697Val) n.446+6966G>A n.220-5130G>A c.105110C>T (p.Ala35037Val) c.79004C>T (p.Ala26335Val) c.78863C>T (p.Ala26288Val) c.104906C>T (p.Ala34969Val) c.100304C>T (p.Ala33435Val) c.100301C>T (p.Ala33434Val) c.97343C>T (p.Ala32448Val) c.78959C>T (p.Ala26320Val) c.100454C>T (p.Ala33485Val) c.100451C>T (p.Ala33484Val) c.99884C>T (p.Ala33295Val) c.97226C>T (p.Ala32409Val) c.97145C>T (p.Ala32382Val) c.78908C>T (p.Ala26303Val) c.68762C>T (p.Ala22921Val) | |
2 | g.178530602G>C | CA349407220 | TTN,TTN-AS1 | c.98309C>G (p.Ala32770Gly) c.79394C>G (p.Ala26465Gly) c.79193C>G (p.Ala26398Gly) c.78818C>G (p.Ala26273Gly) c.106013C>G (p.Ala35338Gly) c.101090C>G (p.Ala33697Gly) n.446+6966G>C n.220-5130G>C c.105110C>G (p.Ala35037Gly) c.79004C>G (p.Ala26335Gly) c.78863C>G (p.Ala26288Gly) c.104906C>G (p.Ala34969Gly) c.100304C>G (p.Ala33435Gly) c.100301C>G (p.Ala33434Gly) c.97343C>G (p.Ala32448Gly) c.78959C>G (p.Ala26320Gly) c.100454C>G (p.Ala33485Gly) c.100451C>G (p.Ala33484Gly) c.99884C>G (p.Ala33295Gly) c.97226C>G (p.Ala32409Gly) c.97145C>G (p.Ala32382Gly) c.78908C>G (p.Ala26303Gly) c.68762C>G (p.Ala22921Gly) | |
2 | g.178530602G>T | CA349407221 | TTN,TTN-AS1 | c.98309C>A (p.Ala32770Glu) c.79394C>A (p.Ala26465Glu) c.79193C>A (p.Ala26398Glu) c.78818C>A (p.Ala26273Glu) c.106013C>A (p.Ala35338Glu) c.101090C>A (p.Ala33697Glu) n.446+6966G>T n.220-5130G>T c.105110C>A (p.Ala35037Glu) c.79004C>A (p.Ala26335Glu) c.78863C>A (p.Ala26288Glu) c.104906C>A (p.Ala34969Glu) c.100304C>A (p.Ala33435Glu) c.100301C>A (p.Ala33434Glu) c.97343C>A (p.Ala32448Glu) c.78959C>A (p.Ala26320Glu) c.100454C>A (p.Ala33485Glu) c.100451C>A (p.Ala33484Glu) c.99884C>A (p.Ala33295Glu) c.97226C>A (p.Ala32409Glu) c.97145C>A (p.Ala32382Glu) c.78908C>A (p.Ala26303Glu) c.68762C>A (p.Ala22921Glu) | |
2 | g.178530603C>A | CA349407222 | TTN,TTN-AS1 | c.98308G>T (p.Ala32770Ser) c.79393G>T (p.Ala26465Ser) c.79192G>T (p.Ala26398Ser) c.78817G>T (p.Ala26273Ser) c.106012G>T (p.Ala35338Ser) c.101089G>T (p.Ala33697Ser) n.446+6967C>A n.220-5129C>A c.105109G>T (p.Ala35037Ser) c.79003G>T (p.Ala26335Ser) c.78862G>T (p.Ala26288Ser) c.104905G>T (p.Ala34969Ser) c.100303G>T (p.Ala33435Ser) c.100300G>T (p.Ala33434Ser) c.97342G>T (p.Ala32448Ser) c.78958G>T (p.Ala26320Ser) c.100453G>T (p.Ala33485Ser) c.100450G>T (p.Ala33484Ser) c.99883G>T (p.Ala33295Ser) c.97225G>T (p.Ala32409Ser) c.97144G>T (p.Ala32382Ser) c.78907G>T (p.Ala26303Ser) c.68761G>T (p.Ala22921Ser) | |
2 | g.178530603C>G | CA349407223 | TTN,TTN-AS1 | c.98308G>C (p.Ala32770Pro) c.79393G>C (p.Ala26465Pro) c.79192G>C (p.Ala26398Pro) c.78817G>C (p.Ala26273Pro) c.106012G>C (p.Ala35338Pro) c.101089G>C (p.Ala33697Pro) n.446+6967C>G n.220-5129C>G c.105109G>C (p.Ala35037Pro) c.79003G>C (p.Ala26335Pro) c.78862G>C (p.Ala26288Pro) c.104905G>C (p.Ala34969Pro) c.100303G>C (p.Ala33435Pro) c.100300G>C (p.Ala33434Pro) c.97342G>C (p.Ala32448Pro) c.78958G>C (p.Ala26320Pro) c.100453G>C (p.Ala33485Pro) c.100450G>C (p.Ala33484Pro) c.99883G>C (p.Ala33295Pro) c.97225G>C (p.Ala32409Pro) c.97144G>C (p.Ala32382Pro) c.78907G>C (p.Ala26303Pro) c.68761G>C (p.Ala22921Pro) | |
2 | g.178530603C>T | CA349407224 | TTN,TTN-AS1 | c.98308G>A (p.Ala32770Thr) c.79393G>A (p.Ala26465Thr) c.79192G>A (p.Ala26398Thr) c.78817G>A (p.Ala26273Thr) c.106012G>A (p.Ala35338Thr) c.101089G>A (p.Ala33697Thr) n.446+6967C>T n.220-5129C>T c.105109G>A (p.Ala35037Thr) c.79003G>A (p.Ala26335Thr) c.78862G>A (p.Ala26288Thr) c.104905G>A (p.Ala34969Thr) c.100303G>A (p.Ala33435Thr) c.100300G>A (p.Ala33434Thr) c.97342G>A (p.Ala32448Thr) c.78958G>A (p.Ala26320Thr) c.100453G>A (p.Ala33485Thr) c.100450G>A (p.Ala33484Thr) c.99883G>A (p.Ala33295Thr) c.97225G>A (p.Ala32409Thr) c.97144G>A (p.Ala32382Thr) c.78907G>A (p.Ala26303Thr) c.68761G>A (p.Ala22921Thr) | |
2 | g.178530604T>A | CA430235524 | TTN,TTN-AS1 | c.98307A>T (p.Ser32769=) c.79392A>T (p.Ser26464=) c.79191A>T (p.Ser26397=) c.78816A>T (p.Ser26272=) c.106011A>T (p.Ser35337=) c.101088A>T (p.Ser33696=) n.446+6968T>A n.220-5128T>A c.105108A>T (p.Ser35036=) c.79002A>T (p.Ser26334=) c.78861A>T (p.Ser26287=) c.104904A>T (p.Ser34968=) c.100302A>T (p.Ser33434=) c.100299A>T (p.Ser33433=) c.97341A>T (p.Ser32447=) c.78957A>T (p.Ser26319=) c.100452A>T (p.Ser33484=) c.100449A>T (p.Ser33483=) c.99882A>T (p.Ser33294=) c.97224A>T (p.Ser32408=) c.97143A>T (p.Ser32381=) c.78906A>T (p.Ser26302=) c.68760A>T (p.Ser22920=) | dbSNP |
2 | g.178530604T>C | CA430235525 | TTN,TTN-AS1 | c.98307A>G (p.Ser32769=) c.79392A>G (p.Ser26464=) c.79191A>G (p.Ser26397=) c.78816A>G (p.Ser26272=) c.106011A>G (p.Ser35337=) c.101088A>G (p.Ser33696=) n.446+6968T>C n.220-5128T>C c.105108A>G (p.Ser35036=) c.79002A>G (p.Ser26334=) c.78861A>G (p.Ser26287=) c.104904A>G (p.Ser34968=) c.100302A>G (p.Ser33434=) c.100299A>G (p.Ser33433=) c.97341A>G (p.Ser32447=) c.78957A>G (p.Ser26319=) c.100452A>G (p.Ser33484=) c.100449A>G (p.Ser33483=) c.99882A>G (p.Ser33294=) c.97224A>G (p.Ser32408=) c.97143A>G (p.Ser32381=) c.78906A>G (p.Ser26302=) c.68760A>G (p.Ser22920=) | |
2 | g.178530604T>G | CA430235527 | TTN,TTN-AS1 | c.98307A>C (p.Ser32769=) c.79392A>C (p.Ser26464=) c.79191A>C (p.Ser26397=) c.78816A>C (p.Ser26272=) c.106011A>C (p.Ser35337=) c.101088A>C (p.Ser33696=) n.446+6968T>G n.220-5128T>G c.105108A>C (p.Ser35036=) c.79002A>C (p.Ser26334=) c.78861A>C (p.Ser26287=) c.104904A>C (p.Ser34968=) c.100302A>C (p.Ser33434=) c.100299A>C (p.Ser33433=) c.97341A>C (p.Ser32447=) c.78957A>C (p.Ser26319=) c.100452A>C (p.Ser33484=) c.100449A>C (p.Ser33483=) c.99882A>C (p.Ser33294=) c.97224A>C (p.Ser32408=) c.97143A>C (p.Ser32381=) c.78906A>C (p.Ser26302=) c.68760A>C (p.Ser22920=) | |
2 | g.178530605G>A | CA349407225 | TTN,TTN-AS1 | c.98306C>T (p.Ser32769Leu) c.79391C>T (p.Ser26464Leu) c.79190C>T (p.Ser26397Leu) c.78815C>T (p.Ser26272Leu) c.106010C>T (p.Ser35337Leu) c.101087C>T (p.Ser33696Leu) n.446+6969G>A n.220-5127G>A c.105107C>T (p.Ser35036Leu) c.79001C>T (p.Ser26334Leu) c.78860C>T (p.Ser26287Leu) c.104903C>T (p.Ser34968Leu) c.100301C>T (p.Ser33434Leu) c.100298C>T (p.Ser33433Leu) c.97340C>T (p.Ser32447Leu) c.78956C>T (p.Ser26319Leu) c.100451C>T (p.Ser33484Leu) c.100448C>T (p.Ser33483Leu) c.99881C>T (p.Ser33294Leu) c.97223C>T (p.Ser32408Leu) c.97142C>T (p.Ser32381Leu) c.78905C>T (p.Ser26302Leu) c.68759C>T (p.Ser22920Leu) | |
2 | g.178530605G>C | CA349407226 | TTN,TTN-AS1 | c.98306C>G (p.Ser32769Ter) c.79391C>G (p.Ser26464Ter) c.79190C>G (p.Ser26397Ter) c.78815C>G (p.Ser26272Ter) c.106010C>G (p.Ser35337Ter) c.101087C>G (p.Ser33696Ter) n.446+6969G>C n.220-5127G>C c.105107C>G (p.Ser35036Ter) c.79001C>G (p.Ser26334Ter) c.78860C>G (p.Ser26287Ter) c.104903C>G (p.Ser34968Ter) c.100301C>G (p.Ser33434Ter) c.100298C>G (p.Ser33433Ter) c.97340C>G (p.Ser32447Ter) c.78956C>G (p.Ser26319Ter) c.100451C>G (p.Ser33484Ter) c.100448C>G (p.Ser33483Ter) c.99881C>G (p.Ser33294Ter) c.97223C>G (p.Ser32408Ter) c.97142C>G (p.Ser32381Ter) c.78905C>G (p.Ser26302Ter) c.68759C>G (p.Ser22920Ter) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530605G>T | CA349407227 | TTN,TTN-AS1 | c.98306C>A (p.Ser32769Ter) c.79391C>A (p.Ser26464Ter) c.79190C>A (p.Ser26397Ter) c.78815C>A (p.Ser26272Ter) c.106010C>A (p.Ser35337Ter) c.101087C>A (p.Ser33696Ter) n.446+6969G>T n.220-5127G>T c.105107C>A (p.Ser35036Ter) c.79001C>A (p.Ser26334Ter) c.78860C>A (p.Ser26287Ter) c.104903C>A (p.Ser34968Ter) c.100301C>A (p.Ser33434Ter) c.100298C>A (p.Ser33433Ter) c.97340C>A (p.Ser32447Ter) c.78956C>A (p.Ser26319Ter) c.100451C>A (p.Ser33484Ter) c.100448C>A (p.Ser33483Ter) c.99881C>A (p.Ser33294Ter) c.97223C>A (p.Ser32408Ter) c.97142C>A (p.Ser32381Ter) c.78905C>A (p.Ser26302Ter) c.68759C>A (p.Ser22920Ter) |