| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178630312C>A | CA1995718 | TTN | c.36506G>T (p.Arg12169Leu) c.17591G>T (p.Arg5864Leu) c.17390G>T (p.Arg5797Leu) c.17015G>T (p.Arg5672Leu) c.44210G>T (p.Arg14737Leu) c.39287G>T (p.Arg13096Leu) c.43307G>T (p.Arg14436Leu) c.17201G>T (p.Arg5734Leu) c.17060G>T (p.Arg5687Leu) c.43103G>T (p.Arg14368Leu) c.38501G>T (p.Arg12834Leu) c.38498G>T (p.Arg12833Leu) c.35540G>T (p.Arg11847Leu) c.17156G>T (p.Arg5719Leu) c.38651G>T (p.Arg12884Leu) c.38648G>T (p.Arg12883Leu) c.38081G>T (p.Arg12694Leu) c.35423G>T (p.Arg11808Leu) c.35342G>T (p.Arg11781Leu) c.17105G>T (p.Arg5702Leu) c.6959G>T (p.Arg2320Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630312C= | CA1310555923 | TTN | c.36506G= (p.Arg12169=) c.17591G= (p.Arg5864=) c.17390G= (p.Arg5797=) c.17015G= (p.Arg5672=) c.44210G= (p.Arg14737=) c.39287G= (p.Arg13096=) c.43307G= (p.Arg14436=) c.17201G= (p.Arg5734=) c.17060G= (p.Arg5687=) c.43103G= (p.Arg14368=) c.38501G= (p.Arg12834=) c.38498G= (p.Arg12833=) c.35540G= (p.Arg11847=) c.17156G= (p.Arg5719=) c.38651G= (p.Arg12884=) c.38648G= (p.Arg12883=) c.38081G= (p.Arg12694=) c.35423G= (p.Arg11808=) c.35342G= (p.Arg11781=) c.17105G= (p.Arg5702=) c.6959G= (p.Arg2320=) | |
| 2 | g.178630312C>G | CA349645531 | TTN | c.36506G>C (p.Arg12169Pro) c.17591G>C (p.Arg5864Pro) c.17390G>C (p.Arg5797Pro) c.17015G>C (p.Arg5672Pro) c.44210G>C (p.Arg14737Pro) c.39287G>C (p.Arg13096Pro) c.43307G>C (p.Arg14436Pro) c.17201G>C (p.Arg5734Pro) c.17060G>C (p.Arg5687Pro) c.43103G>C (p.Arg14368Pro) c.38501G>C (p.Arg12834Pro) c.38498G>C (p.Arg12833Pro) c.35540G>C (p.Arg11847Pro) c.17156G>C (p.Arg5719Pro) c.38651G>C (p.Arg12884Pro) c.38648G>C (p.Arg12883Pro) c.38081G>C (p.Arg12694Pro) c.35423G>C (p.Arg11808Pro) c.35342G>C (p.Arg11781Pro) c.17105G>C (p.Arg5702Pro) c.6959G>C (p.Arg2320Pro) | |
| 2 | g.178630312C>T | CA1995719 | TTN | c.36506G>A (p.Arg12169His) c.17591G>A (p.Arg5864His) c.17390G>A (p.Arg5797His) c.17015G>A (p.Arg5672His) c.44210G>A (p.Arg14737His) c.39287G>A (p.Arg13096His) c.43307G>A (p.Arg14436His) c.17201G>A (p.Arg5734His) c.17060G>A (p.Arg5687His) c.43103G>A (p.Arg14368His) c.38501G>A (p.Arg12834His) c.38498G>A (p.Arg12833His) c.35540G>A (p.Arg11847His) c.17156G>A (p.Arg5719His) c.38651G>A (p.Arg12884His) c.38648G>A (p.Arg12883His) c.38081G>A (p.Arg12694His) c.35423G>A (p.Arg11808His) c.35342G>A (p.Arg11781His) c.17105G>A (p.Arg5702His) c.6959G>A (p.Arg2320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630313G>A | CA1995720 | TTN | c.36505C>T (p.Arg12169Cys) c.17590C>T (p.Arg5864Cys) c.17389C>T (p.Arg5797Cys) c.17014C>T (p.Arg5672Cys) c.44209C>T (p.Arg14737Cys) c.39286C>T (p.Arg13096Cys) c.43306C>T (p.Arg14436Cys) c.17200C>T (p.Arg5734Cys) c.17059C>T (p.Arg5687Cys) c.43102C>T (p.Arg14368Cys) c.38500C>T (p.Arg12834Cys) c.38497C>T (p.Arg12833Cys) c.35539C>T (p.Arg11847Cys) c.17155C>T (p.Arg5719Cys) c.38650C>T (p.Arg12884Cys) c.38647C>T (p.Arg12883Cys) c.38080C>T (p.Arg12694Cys) c.35422C>T (p.Arg11808Cys) c.35341C>T (p.Arg11781Cys) c.17104C>T (p.Arg5702Cys) c.6958C>T (p.Arg2320Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630313G>C | CA349645537 | TTN | c.36505C>G (p.Arg12169Gly) c.17590C>G (p.Arg5864Gly) c.17389C>G (p.Arg5797Gly) c.17014C>G (p.Arg5672Gly) c.44209C>G (p.Arg14737Gly) c.39286C>G (p.Arg13096Gly) c.43306C>G (p.Arg14436Gly) c.17200C>G (p.Arg5734Gly) c.17059C>G (p.Arg5687Gly) c.43102C>G (p.Arg14368Gly) c.38500C>G (p.Arg12834Gly) c.38497C>G (p.Arg12833Gly) c.35539C>G (p.Arg11847Gly) c.17155C>G (p.Arg5719Gly) c.38650C>G (p.Arg12884Gly) c.38647C>G (p.Arg12883Gly) c.38080C>G (p.Arg12694Gly) c.35422C>G (p.Arg11808Gly) c.35341C>G (p.Arg11781Gly) c.17104C>G (p.Arg5702Gly) c.6958C>G (p.Arg2320Gly) | |
| 2 | g.178630313G= | CA1310555924 | TTN | c.36505C= (p.Arg12169=) c.17590C= (p.Arg5864=) c.17389C= (p.Arg5797=) c.17014C= (p.Arg5672=) c.44209C= (p.Arg14737=) c.39286C= (p.Arg13096=) c.43306C= (p.Arg14436=) c.17200C= (p.Arg5734=) c.17059C= (p.Arg5687=) c.43102C= (p.Arg14368=) c.38500C= (p.Arg12834=) c.38497C= (p.Arg12833=) c.35539C= (p.Arg11847=) c.17155C= (p.Arg5719=) c.38650C= (p.Arg12884=) c.38647C= (p.Arg12883=) c.38080C= (p.Arg12694=) c.35422C= (p.Arg11808=) c.35341C= (p.Arg11781=) c.17104C= (p.Arg5702=) c.6958C= (p.Arg2320=) | |
| 2 | g.178630313G>T | CA349645540 | TTN | c.36505C>A (p.Arg12169Ser) c.17590C>A (p.Arg5864Ser) c.17389C>A (p.Arg5797Ser) c.17014C>A (p.Arg5672Ser) c.44209C>A (p.Arg14737Ser) c.39286C>A (p.Arg13096Ser) c.43306C>A (p.Arg14436Ser) c.17200C>A (p.Arg5734Ser) c.17059C>A (p.Arg5687Ser) c.43102C>A (p.Arg14368Ser) c.38500C>A (p.Arg12834Ser) c.38497C>A (p.Arg12833Ser) c.35539C>A (p.Arg11847Ser) c.17155C>A (p.Arg5719Ser) c.38650C>A (p.Arg12884Ser) c.38647C>A (p.Arg12883Ser) c.38080C>A (p.Arg12694Ser) c.35422C>A (p.Arg11808Ser) c.35341C>A (p.Arg11781Ser) c.17104C>A (p.Arg5702Ser) c.6958C>A (p.Arg2320Ser) | |
| 2 | g.178630314A= | CA1310555925 | TTN | c.36504T= (p.Cys12168=) c.17589T= (p.Cys5863=) c.17388T= (p.Cys5796=) c.17013T= (p.Cys5671=) c.44208T= (p.Cys14736=) c.39285T= (p.Cys13095=) c.43305T= (p.Cys14435=) c.17199T= (p.Cys5733=) c.17058T= (p.Cys5686=) c.43101T= (p.Cys14367=) c.38499T= (p.Cys12833=) c.38496T= (p.Cys12832=) c.35538T= (p.Cys11846=) c.17154T= (p.Cys5718=) c.38649T= (p.Cys12883=) c.38646T= (p.Cys12882=) c.38079T= (p.Cys12693=) c.35421T= (p.Cys11807=) c.35340T= (p.Cys11780=) c.17103T= (p.Cys5701=) c.6957T= (p.Cys2319=) | |
| 2 | g.178630314A>C | CA349645541 | TTN | c.36504T>G (p.Cys12168Trp) c.17589T>G (p.Cys5863Trp) c.17388T>G (p.Cys5796Trp) c.17013T>G (p.Cys5671Trp) c.44208T>G (p.Cys14736Trp) c.39285T>G (p.Cys13095Trp) c.43305T>G (p.Cys14435Trp) c.17199T>G (p.Cys5733Trp) c.17058T>G (p.Cys5686Trp) c.43101T>G (p.Cys14367Trp) c.38499T>G (p.Cys12833Trp) c.38496T>G (p.Cys12832Trp) c.35538T>G (p.Cys11846Trp) c.17154T>G (p.Cys5718Trp) c.38649T>G (p.Cys12883Trp) c.38646T>G (p.Cys12882Trp) c.38079T>G (p.Cys12693Trp) c.35421T>G (p.Cys11807Trp) c.35340T>G (p.Cys11780Trp) c.17103T>G (p.Cys5701Trp) c.6957T>G (p.Cys2319Trp) | |
| 2 | g.178630314A>G | CA1995721 | TTN | c.36504T>C (p.Cys12168=) c.17589T>C (p.Cys5863=) c.17388T>C (p.Cys5796=) c.17013T>C (p.Cys5671=) c.44208T>C (p.Cys14736=) c.39285T>C (p.Cys13095=) c.43305T>C (p.Cys14435=) c.17199T>C (p.Cys5733=) c.17058T>C (p.Cys5686=) c.43101T>C (p.Cys14367=) c.38499T>C (p.Cys12833=) c.38496T>C (p.Cys12832=) c.35538T>C (p.Cys11846=) c.17154T>C (p.Cys5718=) c.38649T>C (p.Cys12883=) c.38646T>C (p.Cys12882=) c.38079T>C (p.Cys12693=) c.35421T>C (p.Cys11807=) c.35340T>C (p.Cys11780=) c.17103T>C (p.Cys5701=) c.6957T>C (p.Cys2319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630314A>T | CA349645542 | TTN | c.36504T>A (p.Cys12168Ter) c.17589T>A (p.Cys5863Ter) c.17388T>A (p.Cys5796Ter) c.17013T>A (p.Cys5671Ter) c.44208T>A (p.Cys14736Ter) c.39285T>A (p.Cys13095Ter) c.43305T>A (p.Cys14435Ter) c.17199T>A (p.Cys5733Ter) c.17058T>A (p.Cys5686Ter) c.43101T>A (p.Cys14367Ter) c.38499T>A (p.Cys12833Ter) c.38496T>A (p.Cys12832Ter) c.35538T>A (p.Cys11846Ter) c.17154T>A (p.Cys5718Ter) c.38649T>A (p.Cys12883Ter) c.38646T>A (p.Cys12882Ter) c.38079T>A (p.Cys12693Ter) c.35421T>A (p.Cys11807Ter) c.35340T>A (p.Cys11780Ter) c.17103T>A (p.Cys5701Ter) c.6957T>A (p.Cys2319Ter) | |
| 2 | g.178630315C>A | CA349645548 | TTN | c.36503G>T (p.Cys12168Phe) c.17588G>T (p.Cys5863Phe) c.17387G>T (p.Cys5796Phe) c.17012G>T (p.Cys5671Phe) c.44207G>T (p.Cys14736Phe) c.39284G>T (p.Cys13095Phe) c.43304G>T (p.Cys14435Phe) c.17198G>T (p.Cys5733Phe) c.17057G>T (p.Cys5686Phe) c.43100G>T (p.Cys14367Phe) c.38498G>T (p.Cys12833Phe) c.38495G>T (p.Cys12832Phe) c.35537G>T (p.Cys11846Phe) c.17153G>T (p.Cys5718Phe) c.38648G>T (p.Cys12883Phe) c.38645G>T (p.Cys12882Phe) c.38078G>T (p.Cys12693Phe) c.35420G>T (p.Cys11807Phe) c.35339G>T (p.Cys11780Phe) c.17102G>T (p.Cys5701Phe) c.6956G>T (p.Cys2319Phe) | |
| 2 | g.178630315C>G | CA349645544 | TTN | c.36503G>C (p.Cys12168Ser) c.17588G>C (p.Cys5863Ser) c.17387G>C (p.Cys5796Ser) c.17012G>C (p.Cys5671Ser) c.44207G>C (p.Cys14736Ser) c.39284G>C (p.Cys13095Ser) c.43304G>C (p.Cys14435Ser) c.17198G>C (p.Cys5733Ser) c.17057G>C (p.Cys5686Ser) c.43100G>C (p.Cys14367Ser) c.38498G>C (p.Cys12833Ser) c.38495G>C (p.Cys12832Ser) c.35537G>C (p.Cys11846Ser) c.17153G>C (p.Cys5718Ser) c.38648G>C (p.Cys12883Ser) c.38645G>C (p.Cys12882Ser) c.38078G>C (p.Cys12693Ser) c.35420G>C (p.Cys11807Ser) c.35339G>C (p.Cys11780Ser) c.17102G>C (p.Cys5701Ser) c.6956G>C (p.Cys2319Ser) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630315C>T | CA349645546 | TTN | c.36503G>A (p.Cys12168Tyr) c.17588G>A (p.Cys5863Tyr) c.17387G>A (p.Cys5796Tyr) c.17012G>A (p.Cys5671Tyr) c.44207G>A (p.Cys14736Tyr) c.39284G>A (p.Cys13095Tyr) c.43304G>A (p.Cys14435Tyr) c.17198G>A (p.Cys5733Tyr) c.17057G>A (p.Cys5686Tyr) c.43100G>A (p.Cys14367Tyr) c.38498G>A (p.Cys12833Tyr) c.38495G>A (p.Cys12832Tyr) c.35537G>A (p.Cys11846Tyr) c.17153G>A (p.Cys5718Tyr) c.38648G>A (p.Cys12883Tyr) c.38645G>A (p.Cys12882Tyr) c.38078G>A (p.Cys12693Tyr) c.35420G>A (p.Cys11807Tyr) c.35339G>A (p.Cys11780Tyr) c.17102G>A (p.Cys5701Tyr) c.6956G>A (p.Cys2319Tyr) | |
| 2 | g.178630316A>C | CA349645553 | TTN | c.36502T>G (p.Cys12168Gly) c.17587T>G (p.Cys5863Gly) c.17386T>G (p.Cys5796Gly) c.17011T>G (p.Cys5671Gly) c.44206T>G (p.Cys14736Gly) c.39283T>G (p.Cys13095Gly) c.43303T>G (p.Cys14435Gly) c.17197T>G (p.Cys5733Gly) c.17056T>G (p.Cys5686Gly) c.43099T>G (p.Cys14367Gly) c.38497T>G (p.Cys12833Gly) c.38494T>G (p.Cys12832Gly) c.35536T>G (p.Cys11846Gly) c.17152T>G (p.Cys5718Gly) c.38647T>G (p.Cys12883Gly) c.38644T>G (p.Cys12882Gly) c.38077T>G (p.Cys12693Gly) c.35419T>G (p.Cys11807Gly) c.35338T>G (p.Cys11780Gly) c.17101T>G (p.Cys5701Gly) c.6955T>G (p.Cys2319Gly) | |
| 2 | g.178630316A>G | CA349645555 | TTN | c.36502T>C (p.Cys12168Arg) c.17587T>C (p.Cys5863Arg) c.17386T>C (p.Cys5796Arg) c.17011T>C (p.Cys5671Arg) c.44206T>C (p.Cys14736Arg) c.39283T>C (p.Cys13095Arg) c.43303T>C (p.Cys14435Arg) c.17197T>C (p.Cys5733Arg) c.17056T>C (p.Cys5686Arg) c.43099T>C (p.Cys14367Arg) c.38497T>C (p.Cys12833Arg) c.38494T>C (p.Cys12832Arg) c.35536T>C (p.Cys11846Arg) c.17152T>C (p.Cys5718Arg) c.38647T>C (p.Cys12883Arg) c.38644T>C (p.Cys12882Arg) c.38077T>C (p.Cys12693Arg) c.35419T>C (p.Cys11807Arg) c.35338T>C (p.Cys11780Arg) c.17101T>C (p.Cys5701Arg) c.6955T>C (p.Cys2319Arg) | |
| 2 | g.178630316A>T | CA349645557 | TTN | c.36502T>A (p.Cys12168Ser) c.17587T>A (p.Cys5863Ser) c.17386T>A (p.Cys5796Ser) c.17011T>A (p.Cys5671Ser) c.44206T>A (p.Cys14736Ser) c.39283T>A (p.Cys13095Ser) c.43303T>A (p.Cys14435Ser) c.17197T>A (p.Cys5733Ser) c.17056T>A (p.Cys5686Ser) c.43099T>A (p.Cys14367Ser) c.38497T>A (p.Cys12833Ser) c.38494T>A (p.Cys12832Ser) c.35536T>A (p.Cys11846Ser) c.17152T>A (p.Cys5718Ser) c.38647T>A (p.Cys12883Ser) c.38644T>A (p.Cys12882Ser) c.38077T>A (p.Cys12693Ser) c.35419T>A (p.Cys11807Ser) c.35338T>A (p.Cys11780Ser) c.17101T>A (p.Cys5701Ser) c.6955T>A (p.Cys2319Ser) | |
| 2 | g.178630317G>A | CA430113541 | TTN | c.36501C>T (p.Asn12167=) c.17586C>T (p.Asn5862=) c.17385C>T (p.Asn5795=) c.17010C>T (p.Asn5670=) c.44205C>T (p.Asn14735=) c.39282C>T (p.Asn13094=) c.43302C>T (p.Asn14434=) c.17196C>T (p.Asn5732=) c.17055C>T (p.Asn5685=) c.43098C>T (p.Asn14366=) c.38496C>T (p.Asn12832=) c.38493C>T (p.Asn12831=) c.35535C>T (p.Asn11845=) c.17151C>T (p.Asn5717=) c.38646C>T (p.Asn12882=) c.38643C>T (p.Asn12881=) c.38076C>T (p.Asn12692=) c.35418C>T (p.Asn11806=) c.35337C>T (p.Asn11779=) c.17100C>T (p.Asn5700=) c.6954C>T (p.Asn2318=) | |
| 2 | g.178630317G>C | CA1995722 | TTN | c.36501C>G (p.Asn12167Lys) c.17586C>G (p.Asn5862Lys) c.17385C>G (p.Asn5795Lys) c.17010C>G (p.Asn5670Lys) c.44205C>G (p.Asn14735Lys) c.39282C>G (p.Asn13094Lys) c.43302C>G (p.Asn14434Lys) c.17196C>G (p.Asn5732Lys) c.17055C>G (p.Asn5685Lys) c.43098C>G (p.Asn14366Lys) c.38496C>G (p.Asn12832Lys) c.38493C>G (p.Asn12831Lys) c.35535C>G (p.Asn11845Lys) c.17151C>G (p.Asn5717Lys) c.38646C>G (p.Asn12882Lys) c.38643C>G (p.Asn12881Lys) c.38076C>G (p.Asn12692Lys) c.35418C>G (p.Asn11806Lys) c.35337C>G (p.Asn11779Lys) c.17100C>G (p.Asn5700Lys) c.6954C>G (p.Asn2318Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630317G= | CA1310555926 | TTN | c.36501C= (p.Asn12167=) c.17586C= (p.Asn5862=) c.17385C= (p.Asn5795=) c.17010C= (p.Asn5670=) c.44205C= (p.Asn14735=) c.39282C= (p.Asn13094=) c.43302C= (p.Asn14434=) c.17196C= (p.Asn5732=) c.17055C= (p.Asn5685=) c.43098C= (p.Asn14366=) c.38496C= (p.Asn12832=) c.38493C= (p.Asn12831=) c.35535C= (p.Asn11845=) c.17151C= (p.Asn5717=) c.38646C= (p.Asn12882=) c.38643C= (p.Asn12881=) c.38076C= (p.Asn12692=) c.35418C= (p.Asn11806=) c.35337C= (p.Asn11779=) c.17100C= (p.Asn5700=) c.6954C= (p.Asn2318=) | |
| 2 | g.178630317G>T | CA349645560 | TTN | c.36501C>A (p.Asn12167Lys) c.17586C>A (p.Asn5862Lys) c.17385C>A (p.Asn5795Lys) c.17010C>A (p.Asn5670Lys) c.44205C>A (p.Asn14735Lys) c.39282C>A (p.Asn13094Lys) c.43302C>A (p.Asn14434Lys) c.17196C>A (p.Asn5732Lys) c.17055C>A (p.Asn5685Lys) c.43098C>A (p.Asn14366Lys) c.38496C>A (p.Asn12832Lys) c.38493C>A (p.Asn12831Lys) c.35535C>A (p.Asn11845Lys) c.17151C>A (p.Asn5717Lys) c.38646C>A (p.Asn12882Lys) c.38643C>A (p.Asn12881Lys) c.38076C>A (p.Asn12692Lys) c.35418C>A (p.Asn11806Lys) c.35337C>A (p.Asn11779Lys) c.17100C>A (p.Asn5700Lys) c.6954C>A (p.Asn2318Lys) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630318T>A | CA349645565 | TTN | c.36500A>T (p.Asn12167Ile) c.17585A>T (p.Asn5862Ile) c.17384A>T (p.Asn5795Ile) c.17009A>T (p.Asn5670Ile) c.44204A>T (p.Asn14735Ile) c.39281A>T (p.Asn13094Ile) c.43301A>T (p.Asn14434Ile) c.17195A>T (p.Asn5732Ile) c.17054A>T (p.Asn5685Ile) c.43097A>T (p.Asn14366Ile) c.38495A>T (p.Asn12832Ile) c.38492A>T (p.Asn12831Ile) c.35534A>T (p.Asn11845Ile) c.17150A>T (p.Asn5717Ile) c.38645A>T (p.Asn12882Ile) c.38642A>T (p.Asn12881Ile) c.38075A>T (p.Asn12692Ile) c.35417A>T (p.Asn11806Ile) c.35336A>T (p.Asn11779Ile) c.17099A>T (p.Asn5700Ile) c.6953A>T (p.Asn2318Ile) | |
| 2 | g.178630318T>C | CA309823 | TTN | c.36500A>G (p.Asn12167Ser) c.17585A>G (p.Asn5862Ser) c.17384A>G (p.Asn5795Ser) c.17009A>G (p.Asn5670Ser) c.44204A>G (p.Asn14735Ser) c.39281A>G (p.Asn13094Ser) c.43301A>G (p.Asn14434Ser) c.17195A>G (p.Asn5732Ser) c.17054A>G (p.Asn5685Ser) c.43097A>G (p.Asn14366Ser) c.38495A>G (p.Asn12832Ser) c.38492A>G (p.Asn12831Ser) c.35534A>G (p.Asn11845Ser) c.17150A>G (p.Asn5717Ser) c.38645A>G (p.Asn12882Ser) c.38642A>G (p.Asn12881Ser) c.38075A>G (p.Asn12692Ser) c.35417A>G (p.Asn11806Ser) c.35336A>G (p.Asn11779Ser) c.17099A>G (p.Asn5700Ser) c.6953A>G (p.Asn2318Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630318T>G | CA349645576 | TTN | c.36500A>C (p.Asn12167Thr) c.17585A>C (p.Asn5862Thr) c.17384A>C (p.Asn5795Thr) c.17009A>C (p.Asn5670Thr) c.44204A>C (p.Asn14735Thr) c.39281A>C (p.Asn13094Thr) c.43301A>C (p.Asn14434Thr) c.17195A>C (p.Asn5732Thr) c.17054A>C (p.Asn5685Thr) c.43097A>C (p.Asn14366Thr) c.38495A>C (p.Asn12832Thr) c.38492A>C (p.Asn12831Thr) c.35534A>C (p.Asn11845Thr) c.17150A>C (p.Asn5717Thr) c.38645A>C (p.Asn12882Thr) c.38642A>C (p.Asn12881Thr) c.38075A>C (p.Asn12692Thr) c.35417A>C (p.Asn11806Thr) c.35336A>C (p.Asn11779Thr) c.17099A>C (p.Asn5700Thr) c.6953A>C (p.Asn2318Thr) | |
| 2 | g.178630318T= | CA1310555927 | TTN | c.36500A= (p.Asn12167=) c.17585A= (p.Asn5862=) c.17384A= (p.Asn5795=) c.17009A= (p.Asn5670=) c.44204A= (p.Asn14735=) c.39281A= (p.Asn13094=) c.43301A= (p.Asn14434=) c.17195A= (p.Asn5732=) c.17054A= (p.Asn5685=) c.43097A= (p.Asn14366=) c.38495A= (p.Asn12832=) c.38492A= (p.Asn12831=) c.35534A= (p.Asn11845=) c.17150A= (p.Asn5717=) c.38645A= (p.Asn12882=) c.38642A= (p.Asn12881=) c.38075A= (p.Asn12692=) c.35417A= (p.Asn11806=) c.35336A= (p.Asn11779=) c.17099A= (p.Asn5700=) c.6953A= (p.Asn2318=) | |
| 2 | g.178630319T>A | CA349645578 | TTN | c.36499A>T (p.Asn12167Tyr) c.17584A>T (p.Asn5862Tyr) c.17383A>T (p.Asn5795Tyr) c.17008A>T (p.Asn5670Tyr) c.44203A>T (p.Asn14735Tyr) c.39280A>T (p.Asn13094Tyr) c.43300A>T (p.Asn14434Tyr) c.17194A>T (p.Asn5732Tyr) c.17053A>T (p.Asn5685Tyr) c.43096A>T (p.Asn14366Tyr) c.38494A>T (p.Asn12832Tyr) c.38491A>T (p.Asn12831Tyr) c.35533A>T (p.Asn11845Tyr) c.17149A>T (p.Asn5717Tyr) c.38644A>T (p.Asn12882Tyr) c.38641A>T (p.Asn12881Tyr) c.38074A>T (p.Asn12692Tyr) c.35416A>T (p.Asn11806Tyr) c.35335A>T (p.Asn11779Tyr) c.17098A>T (p.Asn5700Tyr) c.6952A>T (p.Asn2318Tyr) | |
| 2 | g.178630319T>C | CA349645579 | TTN | c.36499A>G (p.Asn12167Asp) c.17584A>G (p.Asn5862Asp) c.17383A>G (p.Asn5795Asp) c.17008A>G (p.Asn5670Asp) c.44203A>G (p.Asn14735Asp) c.39280A>G (p.Asn13094Asp) c.43300A>G (p.Asn14434Asp) c.17194A>G (p.Asn5732Asp) c.17053A>G (p.Asn5685Asp) c.43096A>G (p.Asn14366Asp) c.38494A>G (p.Asn12832Asp) c.38491A>G (p.Asn12831Asp) c.35533A>G (p.Asn11845Asp) c.17149A>G (p.Asn5717Asp) c.38644A>G (p.Asn12882Asp) c.38641A>G (p.Asn12881Asp) c.38074A>G (p.Asn12692Asp) c.35416A>G (p.Asn11806Asp) c.35335A>G (p.Asn11779Asp) c.17098A>G (p.Asn5700Asp) c.6952A>G (p.Asn2318Asp) | gnomAD v4 |
| 2 | g.178630319T>G | CA349645580 | TTN | c.36499A>C (p.Asn12167His) c.17584A>C (p.Asn5862His) c.17383A>C (p.Asn5795His) c.17008A>C (p.Asn5670His) c.44203A>C (p.Asn14735His) c.39280A>C (p.Asn13094His) c.43300A>C (p.Asn14434His) c.17194A>C (p.Asn5732His) c.17053A>C (p.Asn5685His) c.43096A>C (p.Asn14366His) c.38494A>C (p.Asn12832His) c.38491A>C (p.Asn12831His) c.35533A>C (p.Asn11845His) c.17149A>C (p.Asn5717His) c.38644A>C (p.Asn12882His) c.38641A>C (p.Asn12881His) c.38074A>C (p.Asn12692His) c.35416A>C (p.Asn11806His) c.35335A>C (p.Asn11779His) c.17098A>C (p.Asn5700His) c.6952A>C (p.Asn2318His) | |
| 2 | g.178630320G>A | CA430113548 | TTN | c.36498C>T (p.His12166=) c.17583C>T (p.His5861=) c.17382C>T (p.His5794=) c.17007C>T (p.His5669=) c.44202C>T (p.His14734=) c.39279C>T (p.His13093=) c.43299C>T (p.His14433=) c.17193C>T (p.His5731=) c.17052C>T (p.His5684=) c.43095C>T (p.His14365=) c.38493C>T (p.His12831=) c.38490C>T (p.His12830=) c.35532C>T (p.His11844=) c.17148C>T (p.His5716=) c.38643C>T (p.His12881=) c.38640C>T (p.His12880=) c.38073C>T (p.His12691=) c.35415C>T (p.His11805=) c.35334C>T (p.His11778=) c.17097C>T (p.His5699=) c.6951C>T (p.His2317=) | dbSNP gnomAD v4 |
| 2 | g.178630320G>C | CA349645584 | TTN | c.36498C>G (p.His12166Gln) c.17583C>G (p.His5861Gln) c.17382C>G (p.His5794Gln) c.17007C>G (p.His5669Gln) c.44202C>G (p.His14734Gln) c.39279C>G (p.His13093Gln) c.43299C>G (p.His14433Gln) c.17193C>G (p.His5731Gln) c.17052C>G (p.His5684Gln) c.43095C>G (p.His14365Gln) c.38493C>G (p.His12831Gln) c.38490C>G (p.His12830Gln) c.35532C>G (p.His11844Gln) c.17148C>G (p.His5716Gln) c.38643C>G (p.His12881Gln) c.38640C>G (p.His12880Gln) c.38073C>G (p.His12691Gln) c.35415C>G (p.His11805Gln) c.35334C>G (p.His11778Gln) c.17097C>G (p.His5699Gln) c.6951C>G (p.His2317Gln) | |
| 2 | g.178630320G= | CA1310555928 | TTN | c.36498C= (p.His12166=) c.17583C= (p.His5861=) c.17382C= (p.His5794=) c.17007C= (p.His5669=) c.44202C= (p.His14734=) c.39279C= (p.His13093=) c.43299C= (p.His14433=) c.17193C= (p.His5731=) c.17052C= (p.His5684=) c.43095C= (p.His14365=) c.38493C= (p.His12831=) c.38490C= (p.His12830=) c.35532C= (p.His11844=) c.17148C= (p.His5716=) c.38643C= (p.His12881=) c.38640C= (p.His12880=) c.38073C= (p.His12691=) c.35415C= (p.His11805=) c.35334C= (p.His11778=) c.17097C= (p.His5699=) c.6951C= (p.His2317=) | |
| 2 | g.178630320G>T | CA349645585 | TTN | c.36498C>A (p.His12166Gln) c.17583C>A (p.His5861Gln) c.17382C>A (p.His5794Gln) c.17007C>A (p.His5669Gln) c.44202C>A (p.His14734Gln) c.39279C>A (p.His13093Gln) c.43299C>A (p.His14433Gln) c.17193C>A (p.His5731Gln) c.17052C>A (p.His5684Gln) c.43095C>A (p.His14365Gln) c.38493C>A (p.His12831Gln) c.38490C>A (p.His12830Gln) c.35532C>A (p.His11844Gln) c.17148C>A (p.His5716Gln) c.38643C>A (p.His12881Gln) c.38640C>A (p.His12880Gln) c.38073C>A (p.His12691Gln) c.35415C>A (p.His11805Gln) c.35334C>A (p.His11778Gln) c.17097C>A (p.His5699Gln) c.6951C>A (p.His2317Gln) | |
| 2 | g.178630321T>A | CA349645588 | TTN | c.36497A>T (p.His12166Leu) c.17582A>T (p.His5861Leu) c.17381A>T (p.His5794Leu) c.17006A>T (p.His5669Leu) c.44201A>T (p.His14734Leu) c.39278A>T (p.His13093Leu) c.43298A>T (p.His14433Leu) c.17192A>T (p.His5731Leu) c.17051A>T (p.His5684Leu) c.43094A>T (p.His14365Leu) c.38492A>T (p.His12831Leu) c.38489A>T (p.His12830Leu) c.35531A>T (p.His11844Leu) c.17147A>T (p.His5716Leu) c.38642A>T (p.His12881Leu) c.38639A>T (p.His12880Leu) c.38072A>T (p.His12691Leu) c.35414A>T (p.His11805Leu) c.35333A>T (p.His11778Leu) c.17096A>T (p.His5699Leu) c.6950A>T (p.His2317Leu) | |
| 2 | g.178630321T>C | CA349645590 | TTN | c.36497A>G (p.His12166Arg) c.17582A>G (p.His5861Arg) c.17381A>G (p.His5794Arg) c.17006A>G (p.His5669Arg) c.44201A>G (p.His14734Arg) c.39278A>G (p.His13093Arg) c.43298A>G (p.His14433Arg) c.17192A>G (p.His5731Arg) c.17051A>G (p.His5684Arg) c.43094A>G (p.His14365Arg) c.38492A>G (p.His12831Arg) c.38489A>G (p.His12830Arg) c.35531A>G (p.His11844Arg) c.17147A>G (p.His5716Arg) c.38642A>G (p.His12881Arg) c.38639A>G (p.His12880Arg) c.38072A>G (p.His12691Arg) c.35414A>G (p.His11805Arg) c.35333A>G (p.His11778Arg) c.17096A>G (p.His5699Arg) c.6950A>G (p.His2317Arg) | |
| 2 | g.178630321T>G | CA349645592 | TTN | c.36497A>C (p.His12166Pro) c.17582A>C (p.His5861Pro) c.17381A>C (p.His5794Pro) c.17006A>C (p.His5669Pro) c.44201A>C (p.His14734Pro) c.39278A>C (p.His13093Pro) c.43298A>C (p.His14433Pro) c.17192A>C (p.His5731Pro) c.17051A>C (p.His5684Pro) c.43094A>C (p.His14365Pro) c.38492A>C (p.His12831Pro) c.38489A>C (p.His12830Pro) c.35531A>C (p.His11844Pro) c.17147A>C (p.His5716Pro) c.38642A>C (p.His12881Pro) c.38639A>C (p.His12880Pro) c.38072A>C (p.His12691Pro) c.35414A>C (p.His11805Pro) c.35333A>C (p.His11778Pro) c.17096A>C (p.His5699Pro) c.6950A>C (p.His2317Pro) | |
| 2 | g.178630322G>A | CA349645595 | TTN | c.36496C>T (p.His12166Tyr) c.17581C>T (p.His5861Tyr) c.17380C>T (p.His5794Tyr) c.17005C>T (p.His5669Tyr) c.44200C>T (p.His14734Tyr) c.39277C>T (p.His13093Tyr) c.43297C>T (p.His14433Tyr) c.17191C>T (p.His5731Tyr) c.17050C>T (p.His5684Tyr) c.43093C>T (p.His14365Tyr) c.38491C>T (p.His12831Tyr) c.38488C>T (p.His12830Tyr) c.35530C>T (p.His11844Tyr) c.17146C>T (p.His5716Tyr) c.38641C>T (p.His12881Tyr) c.38638C>T (p.His12880Tyr) c.38071C>T (p.His12691Tyr) c.35413C>T (p.His11805Tyr) c.35332C>T (p.His11778Tyr) c.17095C>T (p.His5699Tyr) c.6949C>T (p.His2317Tyr) | |
| 2 | g.178630322G>C | CA349645596 | TTN | c.36496C>G (p.His12166Asp) c.17581C>G (p.His5861Asp) c.17380C>G (p.His5794Asp) c.17005C>G (p.His5669Asp) c.44200C>G (p.His14734Asp) c.39277C>G (p.His13093Asp) c.43297C>G (p.His14433Asp) c.17191C>G (p.His5731Asp) c.17050C>G (p.His5684Asp) c.43093C>G (p.His14365Asp) c.38491C>G (p.His12831Asp) c.38488C>G (p.His12830Asp) c.35530C>G (p.His11844Asp) c.17146C>G (p.His5716Asp) c.38641C>G (p.His12881Asp) c.38638C>G (p.His12880Asp) c.38071C>G (p.His12691Asp) c.35413C>G (p.His11805Asp) c.35332C>G (p.His11778Asp) c.17095C>G (p.His5699Asp) c.6949C>G (p.His2317Asp) | |
| 2 | g.178630322G>T | CA349645599 | TTN | c.36496C>A (p.His12166Asn) c.17581C>A (p.His5861Asn) c.17380C>A (p.His5794Asn) c.17005C>A (p.His5669Asn) c.44200C>A (p.His14734Asn) c.39277C>A (p.His13093Asn) c.43297C>A (p.His14433Asn) c.17191C>A (p.His5731Asn) c.17050C>A (p.His5684Asn) c.43093C>A (p.His14365Asn) c.38491C>A (p.His12831Asn) c.38488C>A (p.His12830Asn) c.35530C>A (p.His11844Asn) c.17146C>A (p.His5716Asn) c.38641C>A (p.His12881Asn) c.38638C>A (p.His12880Asn) c.38071C>A (p.His12691Asn) c.35413C>A (p.His11805Asn) c.35332C>A (p.His11778Asn) c.17095C>A (p.His5699Asn) c.6949C>A (p.His2317Asn) | |
| 2 | g.178630323C>A | CA349645603 | TTN | c.36495G>T (p.Leu12165Phe) c.17580G>T (p.Leu5860Phe) c.17379G>T (p.Leu5793Phe) c.17004G>T (p.Leu5668Phe) c.44199G>T (p.Leu14733Phe) c.39276G>T (p.Leu13092Phe) c.43296G>T (p.Leu14432Phe) c.17190G>T (p.Leu5730Phe) c.17049G>T (p.Leu5683Phe) c.43092G>T (p.Leu14364Phe) c.38490G>T (p.Leu12830Phe) c.38487G>T (p.Leu12829Phe) c.35529G>T (p.Leu11843Phe) c.17145G>T (p.Leu5715Phe) c.38640G>T (p.Leu12880Phe) c.38637G>T (p.Leu12879Phe) c.38070G>T (p.Leu12690Phe) c.35412G>T (p.Leu11804Phe) c.35331G>T (p.Leu11777Phe) c.17094G>T (p.Leu5698Phe) c.6948G>T (p.Leu2316Phe) | |
| 2 | g.178630323C>G | CA349645604 | TTN | c.36495G>C (p.Leu12165Phe) c.17580G>C (p.Leu5860Phe) c.17379G>C (p.Leu5793Phe) c.17004G>C (p.Leu5668Phe) c.44199G>C (p.Leu14733Phe) c.39276G>C (p.Leu13092Phe) c.43296G>C (p.Leu14432Phe) c.17190G>C (p.Leu5730Phe) c.17049G>C (p.Leu5683Phe) c.43092G>C (p.Leu14364Phe) c.38490G>C (p.Leu12830Phe) c.38487G>C (p.Leu12829Phe) c.35529G>C (p.Leu11843Phe) c.17145G>C (p.Leu5715Phe) c.38640G>C (p.Leu12880Phe) c.38637G>C (p.Leu12879Phe) c.38070G>C (p.Leu12690Phe) c.35412G>C (p.Leu11804Phe) c.35331G>C (p.Leu11777Phe) c.17094G>C (p.Leu5698Phe) c.6948G>C (p.Leu2316Phe) | |
| 2 | g.178630323C>T | CA430113558 | TTN | c.36495G>A (p.Leu12165=) c.17580G>A (p.Leu5860=) c.17379G>A (p.Leu5793=) c.17004G>A (p.Leu5668=) c.44199G>A (p.Leu14733=) c.39276G>A (p.Leu13092=) c.43296G>A (p.Leu14432=) c.17190G>A (p.Leu5730=) c.17049G>A (p.Leu5683=) c.43092G>A (p.Leu14364=) c.38490G>A (p.Leu12830=) c.38487G>A (p.Leu12829=) c.35529G>A (p.Leu11843=) c.17145G>A (p.Leu5715=) c.38640G>A (p.Leu12880=) c.38637G>A (p.Leu12879=) c.38070G>A (p.Leu12690=) c.35412G>A (p.Leu11804=) c.35331G>A (p.Leu11777=) c.17094G>A (p.Leu5698=) c.6948G>A (p.Leu2316=) | |
| 2 | g.178630324A>C | CA349645605 | TTN | c.36494T>G (p.Leu12165Trp) c.17579T>G (p.Leu5860Trp) c.17378T>G (p.Leu5793Trp) c.17003T>G (p.Leu5668Trp) c.44198T>G (p.Leu14733Trp) c.39275T>G (p.Leu13092Trp) c.43295T>G (p.Leu14432Trp) c.17189T>G (p.Leu5730Trp) c.17048T>G (p.Leu5683Trp) c.43091T>G (p.Leu14364Trp) c.38489T>G (p.Leu12830Trp) c.38486T>G (p.Leu12829Trp) c.35528T>G (p.Leu11843Trp) c.17144T>G (p.Leu5715Trp) c.38639T>G (p.Leu12880Trp) c.38636T>G (p.Leu12879Trp) c.38069T>G (p.Leu12690Trp) c.35411T>G (p.Leu11804Trp) c.35330T>G (p.Leu11777Trp) c.17093T>G (p.Leu5698Trp) c.6947T>G (p.Leu2316Trp) | |
| 2 | g.178630324A>G | CA349645611 | TTN | c.36494T>C (p.Leu12165Ser) c.17579T>C (p.Leu5860Ser) c.17378T>C (p.Leu5793Ser) c.17003T>C (p.Leu5668Ser) c.44198T>C (p.Leu14733Ser) c.39275T>C (p.Leu13092Ser) c.43295T>C (p.Leu14432Ser) c.17189T>C (p.Leu5730Ser) c.17048T>C (p.Leu5683Ser) c.43091T>C (p.Leu14364Ser) c.38489T>C (p.Leu12830Ser) c.38486T>C (p.Leu12829Ser) c.35528T>C (p.Leu11843Ser) c.17144T>C (p.Leu5715Ser) c.38639T>C (p.Leu12880Ser) c.38636T>C (p.Leu12879Ser) c.38069T>C (p.Leu12690Ser) c.35411T>C (p.Leu11804Ser) c.35330T>C (p.Leu11777Ser) c.17093T>C (p.Leu5698Ser) c.6947T>C (p.Leu2316Ser) | gnomAD v4 |
| 2 | g.178630324A>T | CA349645608 | TTN | c.36494T>A (p.Leu12165Ter) c.17579T>A (p.Leu5860Ter) c.17378T>A (p.Leu5793Ter) c.17003T>A (p.Leu5668Ter) c.44198T>A (p.Leu14733Ter) c.39275T>A (p.Leu13092Ter) c.43295T>A (p.Leu14432Ter) c.17189T>A (p.Leu5730Ter) c.17048T>A (p.Leu5683Ter) c.43091T>A (p.Leu14364Ter) c.38489T>A (p.Leu12830Ter) c.38486T>A (p.Leu12829Ter) c.35528T>A (p.Leu11843Ter) c.17144T>A (p.Leu5715Ter) c.38639T>A (p.Leu12880Ter) c.38636T>A (p.Leu12879Ter) c.38069T>A (p.Leu12690Ter) c.35411T>A (p.Leu11804Ter) c.35330T>A (p.Leu11777Ter) c.17093T>A (p.Leu5698Ter) c.6947T>A (p.Leu2316Ter) | |
| 2 | g.178630325A= | CA1310555929 | TTN | c.36493T= (p.Leu12165=) c.17578T= (p.Leu5860=) c.17377T= (p.Leu5793=) c.17002T= (p.Leu5668=) c.44197T= (p.Leu14733=) c.39274T= (p.Leu13092=) c.43294T= (p.Leu14432=) c.17188T= (p.Leu5730=) c.17047T= (p.Leu5683=) c.43090T= (p.Leu14364=) c.38488T= (p.Leu12830=) c.38485T= (p.Leu12829=) c.35527T= (p.Leu11843=) c.17143T= (p.Leu5715=) c.38638T= (p.Leu12880=) c.38635T= (p.Leu12879=) c.38068T= (p.Leu12690=) c.35410T= (p.Leu11804=) c.35329T= (p.Leu11777=) c.17092T= (p.Leu5698=) c.6946T= (p.Leu2316=) | |
| 2 | g.178630325A>C | CA349645614 | TTN | c.36493T>G (p.Leu12165Val) c.17578T>G (p.Leu5860Val) c.17377T>G (p.Leu5793Val) c.17002T>G (p.Leu5668Val) c.44197T>G (p.Leu14733Val) c.39274T>G (p.Leu13092Val) c.43294T>G (p.Leu14432Val) c.17188T>G (p.Leu5730Val) c.17047T>G (p.Leu5683Val) c.43090T>G (p.Leu14364Val) c.38488T>G (p.Leu12830Val) c.38485T>G (p.Leu12829Val) c.35527T>G (p.Leu11843Val) c.17143T>G (p.Leu5715Val) c.38638T>G (p.Leu12880Val) c.38635T>G (p.Leu12879Val) c.38068T>G (p.Leu12690Val) c.35410T>G (p.Leu11804Val) c.35329T>G (p.Leu11777Val) c.17092T>G (p.Leu5698Val) c.6946T>G (p.Leu2316Val) | |
| 2 | g.178630325A>G | CA430113560 | TTN | c.36493T>C (p.Leu12165=) c.17578T>C (p.Leu5860=) c.17377T>C (p.Leu5793=) c.17002T>C (p.Leu5668=) c.44197T>C (p.Leu14733=) c.39274T>C (p.Leu13092=) c.43294T>C (p.Leu14432=) c.17188T>C (p.Leu5730=) c.17047T>C (p.Leu5683=) c.43090T>C (p.Leu14364=) c.38488T>C (p.Leu12830=) c.38485T>C (p.Leu12829=) c.35527T>C (p.Leu11843=) c.17143T>C (p.Leu5715=) c.38638T>C (p.Leu12880=) c.38635T>C (p.Leu12879=) c.38068T>C (p.Leu12690=) c.35410T>C (p.Leu11804=) c.35329T>C (p.Leu11777=) c.17092T>C (p.Leu5698=) c.6946T>C (p.Leu2316=) | ClinVar dbSNP |
| 2 | g.178630325A>T | CA349645616 | TTN | c.36493T>A (p.Leu12165Met) c.17578T>A (p.Leu5860Met) c.17377T>A (p.Leu5793Met) c.17002T>A (p.Leu5668Met) c.44197T>A (p.Leu14733Met) c.39274T>A (p.Leu13092Met) c.43294T>A (p.Leu14432Met) c.17188T>A (p.Leu5730Met) c.17047T>A (p.Leu5683Met) c.43090T>A (p.Leu14364Met) c.38488T>A (p.Leu12830Met) c.38485T>A (p.Leu12829Met) c.35527T>A (p.Leu11843Met) c.17143T>A (p.Leu5715Met) c.38638T>A (p.Leu12880Met) c.38635T>A (p.Leu12879Met) c.38068T>A (p.Leu12690Met) c.35410T>A (p.Leu11804Met) c.35329T>A (p.Leu11777Met) c.17092T>A (p.Leu5698Met) c.6946T>A (p.Leu2316Met) | |
| 2 | g.178630326A>C | CA430113562 | TTN | c.36492T>G (p.Val12164=) c.17577T>G (p.Val5859=) c.17376T>G (p.Val5792=) c.17001T>G (p.Val5667=) c.44196T>G (p.Val14732=) c.39273T>G (p.Val13091=) c.43293T>G (p.Val14431=) c.17187T>G (p.Val5729=) c.17046T>G (p.Val5682=) c.43089T>G (p.Val14363=) c.38487T>G (p.Val12829=) c.38484T>G (p.Val12828=) c.35526T>G (p.Val11842=) c.17142T>G (p.Val5714=) c.38637T>G (p.Val12879=) c.38634T>G (p.Val12878=) c.38067T>G (p.Val12689=) c.35409T>G (p.Val11803=) c.35328T>G (p.Val11776=) c.17091T>G (p.Val5697=) c.6945T>G (p.Val2315=) |