| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339673A>C | CA380321418 | MYBPC3 | c.2045T>G (p.Ile682Ser) c.2027T>G (p.Ile676Ser) | |
| 11 | g.47339673A>G | CA380321413 | MYBPC3 | c.2045T>C (p.Ile682Thr) c.2027T>C (p.Ile676Thr) | |
| 11 | g.47339673A>T | CA380321416 | MYBPC3 | c.2045T>A (p.Ile682Asn) c.2027T>A (p.Ile676Asn) | |
| 11 | g.47339674T>A | CA380321421 | MYBPC3 | c.2044A>T (p.Ile682Phe) c.2026A>T (p.Ile676Phe) | |
| 11 | g.47339674T>C | CA380321423 | MYBPC3 | c.2044A>G (p.Ile682Val) c.2026A>G (p.Ile676Val) | gnomAD v4 |
| 11 | g.47339674T>G | CA380321424 | MYBPC3 | c.2044A>C (p.Ile682Leu) c.2026A>C (p.Ile676Leu) | |
| 11 | g.47339675C>A | CA474217523 | MYBPC3 | c.2043G>T (p.Val681=) c.2025G>T (p.Val675=) | |
| 11 | g.47339675C= | CA1969333391 | MYBPC3 | c.2043G= (p.Val681=) c.2025G= (p.Val675=) | |
| 11 | g.47339675C>G | CA474217527 | MYBPC3 | c.2043G>C (p.Val681=) c.2025G>C (p.Val675=) | |
| 11 | g.47339675C>T | CA474217525 | MYBPC3 | c.2043G>A (p.Val681=) c.2025G>A (p.Val675=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339676A>C | CA380321428 | MYBPC3 | c.2042T>G (p.Val681Gly) c.2024T>G (p.Val675Gly) | |
| 11 | g.47339676A>G | CA380321429 | MYBPC3 | c.2042T>C (p.Val681Ala) c.2024T>C (p.Val675Ala) | |
| 11 | g.47339676A>T | CA380321433 | MYBPC3 | c.2042T>A (p.Val681Glu) c.2024T>A (p.Val675Glu) | |
| 11 | g.47339677C>A | CA380321435 | MYBPC3 | c.2041G>T (p.Val681Leu) c.2023G>T (p.Val675Leu) | |
| 11 | g.47339677C= | CA1969333393 | MYBPC3 | c.2041G= (p.Val681=) c.2023G= (p.Val675=) | |
| 11 | g.47339677C>G | CA380321440 | MYBPC3 | c.2041G>C (p.Val681Leu) c.2023G>C (p.Val675Leu) | |
| 11 | g.47339677C>T | CA078488 | MYBPC3 | c.2041G>A (p.Val681Met) c.2023G>A (p.Val675Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339678A>C | CA048096 | MYBPC3 | c.2040T>G (p.Thr680=) c.2022T>G (p.Thr674=) | |
| 11 | g.47339678A>G | CA474217538 | MYBPC3 | c.2040T>C (p.Thr680=) c.2022T>C (p.Thr674=) | ClinVar dbSNP |
| 11 | g.47339678A>T | CA474217541 | MYBPC3 | c.2040T>A (p.Thr680=) c.2022T>A (p.Thr674=) | |
| 11 | g.47339678dup | CA011684 | MYBPC3 | c.2040dup (p.Val681CysfsTer12) c.2022dup (p.Val675CysfsTer12) c.2040dup (p.Val681CysfsTer13) | ClinVar dbSNP |
| 11 | g.47339679G>A | CA380321446 | MYBPC3 | c.2039C>T (p.Thr680Ile) c.2021C>T (p.Thr674Ile) | ClinVar dbSNP |
| 11 | g.47339679G>C | CA380321448 | MYBPC3 | c.2039C>G (p.Thr680Ser) c.2021C>G (p.Thr674Ser) | |
| 11 | g.47339679G>T | CA380321451 | MYBPC3 | c.2039C>A (p.Thr680Asn) c.2021C>A (p.Thr674Asn) | |
| 11 | g.47339680T>A | CA380321454 | MYBPC3 | c.2038A>T (p.Thr680Ser) c.2020A>T (p.Thr674Ser) | |
| 11 | g.47339680T>C | CA380321458 | MYBPC3 | c.2038A>G (p.Thr680Ala) c.2020A>G (p.Thr674Ala) | |
| 11 | g.47339680T>G | CA380321456 | MYBPC3 | c.2038A>C (p.Thr680Pro) c.2020A>C (p.Thr674Pro) | |
| 11 | g.47339681G>A | CA474217561 | MYBPC3 | c.2037C>T (p.Pro679=) c.2019C>T (p.Pro673=) | |
| 11 | g.47339681G>C | CA474217563 | MYBPC3 | c.2037C>G (p.Pro679=) c.2019C>G (p.Pro673=) | |
| 11 | g.47339681G= | CA1969333394 | MYBPC3 | c.2037C= (p.Pro679=) c.2019C= (p.Pro673=) | |
| 11 | g.47339681G>T | CA078486 | MYBPC3 | c.2037C>A (p.Pro679=) c.2019C>A (p.Pro673=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.47339682G>A | CA380321463 | MYBPC3 | c.2036C>T (p.Pro679Leu) c.2018C>T (p.Pro673Leu) | |
| 11 | g.47339682G>C | CA380321466 | MYBPC3 | c.2036C>G (p.Pro679Arg) c.2018C>G (p.Pro673Arg) | gnomAD v4 |
| 11 | g.47339682G>T | CA380321469 | MYBPC3 | c.2036C>A (p.Pro679His) c.2018C>A (p.Pro673His) | |
| 11 | g.47339683G>A | CA011676 | MYBPC3 | c.2035C>T (p.Pro679Ser) c.2017C>T (p.Pro673Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339683G>C | CA380321473 | MYBPC3 | c.2035C>G (p.Pro679Ala) c.2017C>G (p.Pro673Ala) | |
| 11 | g.47339683G= | CA1969333397 | MYBPC3 | c.2035C= (p.Pro679=) c.2017C= (p.Pro673=) | |
| 11 | g.47339683G>T | CA380321476 | MYBPC3 | c.2035C>A (p.Pro679Thr) c.2017C>A (p.Pro673Thr) | ClinVar dbSNP |
| 11 | g.47339684A= | CA1969333399 | MYBPC3 | c.2034T= (p.Ala678=) c.2016T= (p.Ala672=) | |
| 11 | g.47339684A>C | CA474217584 | MYBPC3 | c.2034T>G (p.Ala678=) c.2016T>G (p.Ala672=) | |
| 11 | g.47339684A>G | CA078484 | MYBPC3 | c.2034T>C (p.Ala678=) c.2016T>C (p.Ala672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339684A>T | CA474217581 | MYBPC3 | c.2034T>A (p.Ala678=) c.2016T>A (p.Ala672=) | |
| 11 | g.47339685G>A | CA380321481 | MYBPC3 | c.2033C>T (p.Ala678Val) c.2015C>T (p.Ala672Val) | gnomAD v4 |
| 11 | g.47339685G>C | CA380321483 | MYBPC3 | c.2033C>G (p.Ala678Gly) c.2015C>G (p.Ala672Gly) | gnomAD v4 |
| 11 | g.47339685G= | CA1969333401 | MYBPC3 | c.2033C= (p.Ala678=) c.2015C= (p.Ala672=) | |
| 11 | g.47339685G>T | CA078482 | MYBPC3 | c.2033C>A (p.Ala678Asp) c.2015C>A (p.Ala672Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339686C>A | CA380321487 | MYBPC3 | c.2032G>T (p.Ala678Ser) c.2014G>T (p.Ala672Ser) | |
| 11 | g.47339686C>G | CA380321493 | MYBPC3 | c.2032G>C (p.Ala678Pro) c.2014G>C (p.Ala672Pro) | |
| 11 | g.47339686C>T | CA380321490 | MYBPC3 | c.2032G>A (p.Ala678Thr) c.2014G>A (p.Ala672Thr) | ClinVar gnomAD v4 |
| 11 | g.47339689_47339697del | CA2573051234 | MYBPC3 | c.2024_2032del (p.Gly675_Pro677del) c.2006_2014del (p.Gly669_Pro671del) | |
| 11 | g.47339687A>C | CA474217594 | MYBPC3 | c.2031T>G (p.Pro677=) c.2013T>G (p.Pro671=) | |
| 11 | g.47339687A>G | CA047965 | MYBPC3 | c.2031T>C (p.Pro677=) c.2013T>C (p.Pro671=) | |
| 11 | g.47339687A>T | CA474217599 | MYBPC3 | c.2031T>A (p.Pro677=) c.2013T>A (p.Pro671=) | |
| 11 | g.47339688G>A | CA011667 | MYBPC3 | c.2030C>T (p.Pro677Leu) c.2012C>T (p.Pro671Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339688G>C | CA380321497 | MYBPC3 | c.2030C>G (p.Pro677Arg) c.2012C>G (p.Pro671Arg) | |
| 11 | g.47339688G= | CA1969333402 | MYBPC3 | c.2030C= (p.Pro677=) c.2012C= (p.Pro671=) | |
| 11 | g.47339688G>T | CA047956 | MYBPC3 | c.2030C>A (p.Pro677His) c.2012C>A (p.Pro671His) | |
| 11 | g.47339689G>A | CA221691171 | MYBPC3 | c.2029C>T (p.Pro677Ser) c.2011C>T (p.Pro671Ser) | ClinVar dbSNP |
| 11 | g.47339689G>C | CA380321503 | MYBPC3 | c.2029C>G (p.Pro677Ala) c.2011C>G (p.Pro671Ala) | |
| 11 | g.47339689G= | CA1969333404 | MYBPC3 | c.2029C= (p.Pro677=) c.2011C= (p.Pro671=) | |
| 11 | g.47339689G>T | CA380321506 | MYBPC3 | c.2029C>A (p.Pro677Thr) c.2011C>A (p.Pro671Thr) | |
| 11 | g.47339690G>A | CA474217609 | MYBPC3 | c.2028C>T (p.Asp676=) c.2010C>T (p.Asp670=) | |
| 11 | g.47339690G>C | CA380321509 | MYBPC3 | c.2028C>G (p.Asp676Glu) c.2010C>G (p.Asp670Glu) | |
| 11 | g.47339690G>T | CA380321512 | MYBPC3 | c.2028C>A (p.Asp676Glu) c.2010C>A (p.Asp670Glu) | |
| 11 | g.47339691T>A | CA380321515 | MYBPC3 | c.2027A>T (p.Asp676Val) c.2009A>T (p.Asp670Val) | ClinVar gnomAD v4 |
| 11 | g.47339691T>C | CA380321519 | MYBPC3 | c.2027A>G (p.Asp676Gly) c.2009A>G (p.Asp670Gly) | |
| 11 | g.47339691T>G | CA380321521 | MYBPC3 | c.2027A>C (p.Asp676Ala) c.2009A>C (p.Asp670Ala) | gnomAD v4 |
| 11 | g.47339692C>A | CA221691177 | MYBPC3 | c.2026G>T (p.Asp676Tyr) c.2008G>T (p.Asp670Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339692C= | CA1969333406 | MYBPC3 | c.2026G= (p.Asp676=) c.2008G= (p.Asp670=) | |
| 11 | g.47339692C>G | CA380321527 | MYBPC3 | c.2026G>C (p.Asp676His) c.2008G>C (p.Asp670His) | |
| 11 | g.47339692C>T | CA380321524 | MYBPC3 | c.2026G>A (p.Asp676Asn) c.2008G>A (p.Asp670Asn) | |
| 11 | g.47339695dup | CA2724175940 | MYBPC3 | c.2026dup (p.Asp676GlyfsTer17) c.2008dup (p.Asp670GlyfsTer17) c.2026dup (p.Asp676GlyfsTer18) | dbSNP |
| 11 | g.47339694_47339695del | CA2573051153 | MYBPC3 | c.2025_2026del (p.Asp676ProfsTer16) c.2007_2008del (p.Asp670ProfsTer16) c.2025_2026del (p.Asp676ProfsTer17) | |
| 11 | g.47339693C>A | CA474217623 | MYBPC3 | c.2025G>T (p.Gly675=) c.2007G>T (p.Gly669=) | |
| 11 | g.47339693C= | CA1969333408 | MYBPC3 | c.2025G= (p.Gly675=) c.2007G= (p.Gly669=) | |
| 11 | g.47339693C>G | CA474217625 | MYBPC3 | c.2025G>C (p.Gly675=) c.2007G>C (p.Gly669=) | ClinVar dbSNP |
| 11 | g.47339693C>T | CA474217626 | MYBPC3 | c.2025G>A (p.Gly675=) c.2007G>A (p.Gly669=) | |
| 11 | g.47339694C>A | CA380321532 | MYBPC3 | c.2024G>T (p.Gly675Val) c.2006G>T (p.Gly669Val) | |
| 11 | g.47339694C>G | CA380321535 | MYBPC3 | c.2024G>C (p.Gly675Ala) c.2006G>C (p.Gly669Ala) | |
| 11 | g.47339694C>T | CA380321537 | MYBPC3 | c.2024G>A (p.Gly675Glu) c.2006G>A (p.Gly669Glu) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.47339695C>A | CA380321538 | MYBPC3 | c.2023G>T (p.Gly675Trp) c.2005G>T (p.Gly669Trp) | |
| 11 | g.47339695C>G | CA380321539 | MYBPC3 | c.2023G>C (p.Gly675Arg) c.2005G>C (p.Gly669Arg) | |
| 11 | g.47339695C>T | CA380321540 | MYBPC3 | c.2023G>A (p.Gly675Arg) c.2005G>A (p.Gly669Arg) | ClinVar |
| 11 | g.47339696A>C | CA474217637 | MYBPC3 | c.2022T>G (p.Ser674=) c.2004T>G (p.Ser668=) | |
| 11 | g.47339696A>G | CA474217639 | MYBPC3 | c.2022T>C (p.Ser674=) c.2004T>C (p.Ser668=) | gnomAD v4 |
| 11 | g.47339696A>T | CA474217638 | MYBPC3 | c.2022T>A (p.Ser674=) c.2004T>A (p.Ser668=) | |
| 11 | g.47339697G>A | CA380321541 | MYBPC3 | c.2021C>T (p.Ser674Phe) c.2003C>T (p.Ser668Phe) | |
| 11 | g.47339697G>C | CA380321542 | MYBPC3 | c.2021C>G (p.Ser674Cys) c.2003C>G (p.Ser668Cys) | ClinVar dbSNP |
| 11 | g.47339697G= | CA1969333410 | MYBPC3 | c.2021C= (p.Ser674=) c.2003C= (p.Ser668=) | |
| 11 | g.47339697G>T | CA380321543 | MYBPC3 | c.2021C>A (p.Ser674Tyr) c.2003C>A (p.Ser668Tyr) | |
| 11 | g.47339698A>C | CA380321544 | MYBPC3 | c.2020T>G (p.Ser674Ala) c.2002T>G (p.Ser668Ala) | |
| 11 | g.47339698A>G | CA380321546 | MYBPC3 | c.2020T>C (p.Ser674Pro) c.2002T>C (p.Ser668Pro) | |
| 11 | g.47339698A>T | CA380321549 | MYBPC3 | c.2020T>A (p.Ser674Thr) c.2002T>A (p.Ser668Thr) | |
| 11 | g.47339699G>A | CA078479 | MYBPC3 | c.2019C>T (p.Ile673=) c.2001C>T (p.Ile667=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339699G>C | CA221691182 | MYBPC3 | c.2019C>G (p.Ile673Met) c.2001C>G (p.Ile667Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339699G= | CA1969333412 | MYBPC3 | c.2019C= (p.Ile673=) c.2001C= (p.Ile667=) | |
| 11 | g.47339699G>T | CA474217642 | MYBPC3 | c.2019C>A (p.Ile673=) c.2001C>A (p.Ile667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339700A= | CA1969333414 | MYBPC3 | c.2018T= (p.Ile673=) c.2000T= (p.Ile667=) | |
| 11 | g.47339700A>C | CA380321554 | MYBPC3 | c.2018T>G (p.Ile673Ser) c.2000T>G (p.Ile667Ser) | |
| 11 | g.47339700A>G | CA078477 | MYBPC3 | c.2018T>C (p.Ile673Thr) c.2000T>C (p.Ile667Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339700A>T | CA380321556 | MYBPC3 | c.2018T>A (p.Ile673Asn) c.2000T>A (p.Ile667Asn) | |
| 11 | g.47339701T>A | CA380321560 | MYBPC3 | c.2017A>T (p.Ile673Phe) c.1999A>T (p.Ile667Phe) | |
| 11 | g.47339701T>C | CA380321562 | MYBPC3 | c.2017A>G (p.Ile673Val) c.1999A>G (p.Ile667Val) | gnomAD v4 |
| 11 | g.47339701T>G | CA380321565 | MYBPC3 | c.2017A>C (p.Ile673Leu) c.1999A>C (p.Ile667Leu) | |
| 11 | g.47339701_47339703delinsTAG | CA1969333415 | MYBPC3 | c.2015_2017delinsCTA (p.Pro672=) c.1997_1999delinsCTA (p.Pro666=) | |
| 11 | g.47339701_47339705delinsTAGGG | CA1969333416 | MYBPC3 | c.2013_2017delinsCCCTA (p.Val671=) c.1995_1999delinsCCCTA (p.Val665=) | |
| 11 | g.47339702A= | CA1969333420 | MYBPC3 | c.2016T= (p.Pro672=) c.1998T= (p.Pro666=) | |
| 11 | g.47339702A>C | CA474217651 | MYBPC3 | c.2016T>G (p.Pro672=) c.1998T>G (p.Pro666=) | dbSNP |
| 11 | g.47339702A>G | CA078474 | MYBPC3 | c.2016T>C (p.Pro672=) c.1998T>C (p.Pro666=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339702A>T | CA474217655 | MYBPC3 | c.2016T>A (p.Pro672=) c.1998T>A (p.Pro666=) | |
| 11 | g.47339702_47339703del | CA676997349 | MYBPC3 | c.2015_2016del (p.Pro672HisfsTer20) c.1997_1998del (p.Pro666HisfsTer20) c.2015_2016del (p.Pro672HisfsTer21) | dbSNP |
| 11 | g.47339702_47339705delinsCC | CA011652 | MYBPC3 | c.2013_2016delinsGG (p.Pro672AspfsTer20) c.1995_1998delinsGG (p.Pro666AspfsTer20) c.2013_2016delinsGG (p.Pro672AspfsTer21) | ClinVar dbSNP |
| 11 | g.47339703_47339706del | CA937669959 | MYBPC3 | c.2013_2016del (p.Pro672SerfsTer9) c.1995_1998del (p.Pro666SerfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339703G>A | CA380321575 | MYBPC3 | c.2015C>T (p.Pro672Leu) c.1997C>T (p.Pro666Leu) | |
| 11 | g.47339703G>C | CA380321577 | MYBPC3 | c.2015C>G (p.Pro672Arg) c.1997C>G (p.Pro666Arg) | |
| 11 | g.47339703G>T | CA380321579 | MYBPC3 | c.2015C>A (p.Pro672His) c.1997C>A (p.Pro666His) | |
| 11 | g.47339705del | CA2580084196 | MYBPC3 | c.2015del (p.Pro672LeufsTer10) c.1997del (p.Pro666LeufsTer10) | ClinVar |
| 11 | g.47339704G>A | CA380321583 | MYBPC3 | c.2014C>T (p.Pro672Ser) c.1996C>T (p.Pro666Ser) | ClinVar gnomAD v4 |
| 11 | g.47339704G>C | CA380321585 | MYBPC3 | c.2014C>G (p.Pro672Ala) c.1996C>G (p.Pro666Ala) | dbSNP |
| 11 | g.47339704G= | CA1969333422 | MYBPC3 | c.2014C= (p.Pro672=) c.1996C= (p.Pro666=) | |
| 11 | g.47339704G>T | CA380321589 | MYBPC3 | c.2014C>A (p.Pro672Thr) c.1996C>A (p.Pro666Thr) | |
| 11 | g.47339705G>A | CA474217667 | MYBPC3 | c.2013C>T (p.Val671=) c.1995C>T (p.Val665=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339705G>C | CA474217666 | MYBPC3 | c.2013C>G (p.Val671=) c.1995C>G (p.Val665=) | dbSNP |
| 11 | g.47339705G= | CA1969333423 | MYBPC3 | c.2013C= (p.Val671=) c.1995C= (p.Val665=) | |
| 11 | g.47339705G>T | CA474217664 | MYBPC3 | c.2013C>A (p.Val671=) c.1995C>A (p.Val665=) | |
| 11 | g.47339705_47339706insCC | CA937669977 | MYBPC3 | c.2012_2013insGG (p.Pro672AlafsTer11) c.1994_1995insGG (p.Pro666AlafsTer11) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339706A>C | CA380321598 | MYBPC3 | c.2012T>G (p.Val671Gly) c.1994T>G (p.Val665Gly) | |
| 11 | g.47339706A>G | CA380321595 | MYBPC3 | c.2012T>C (p.Val671Ala) c.1994T>C (p.Val665Ala) | |
| 11 | g.47339706A>T | CA380321593 | MYBPC3 | c.2012T>A (p.Val671Asp) c.1994T>A (p.Val665Asp) | |
| 11 | g.47339707C>A | CA380321601 | MYBPC3 | c.2011G>T (p.Val671Phe) c.1993G>T (p.Val665Phe) | ClinVar dbSNP |
| 11 | g.47339707C= | CA1969333425 | MYBPC3 | c.2011G= (p.Val671=) c.1993G= (p.Val665=) | |
| 11 | g.47339707C>G | CA380321604 | MYBPC3 | c.2011G>C (p.Val671Leu) c.1993G>C (p.Val665Leu) | |
| 11 | g.47339707C>T | CA10576889 | MYBPC3 | c.2011G>A (p.Val671Ile) c.1993G>A (p.Val665Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339708G>A | CA078472 | MYBPC3 | c.2010C>T (p.Asp670=) c.1992C>T (p.Asp664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339708G>C | CA380321609 | MYBPC3 | c.2010C>G (p.Asp670Glu) c.1992C>G (p.Asp664Glu) | |
| 11 | g.47339708G= | CA1969333428 | MYBPC3 | c.2010C= (p.Asp670=) c.1992C= (p.Asp664=) | |
| 11 | g.47339708G>T | CA380321613 | MYBPC3 | c.2010C>A (p.Asp670Glu) c.1992C>A (p.Asp664Glu) | gnomAD v4 |
| 11 | g.47339709T>A | CA380321616 | MYBPC3 | c.2009A>T (p.Asp670Val) c.1991A>T (p.Asp664Val) | |
| 11 | g.47339709T>C | CA380321619 | MYBPC3 | c.2009A>G (p.Asp670Gly) c.1991A>G (p.Asp664Gly) | |
| 11 | g.47339709T>G | CA380321622 | MYBPC3 | c.2009A>C (p.Asp670Ala) c.1991A>C (p.Asp664Ala) | |
| 11 | g.47339710C>A | CA380321626 | MYBPC3 | c.2008G>T (p.Asp670Tyr) c.1990G>T (p.Asp664Tyr) | gnomAD v4 |
| 11 | g.47339710C>G | CA380321628 | MYBPC3 | c.2008G>C (p.Asp670His) c.1990G>C (p.Asp664His) | |
| 11 | g.47339710C>T | CA380321631 | MYBPC3 | c.2008G>A (p.Asp670Asn) c.1990G>A (p.Asp664Asn) | |
| 11 | g.47339711C>A | CA474217685 | MYBPC3 | c.2007G>T (p.Leu669=) c.1989G>T (p.Leu663=) | |
| 11 | g.47339711C>G | CA474217687 | MYBPC3 | c.2007G>C (p.Leu669=) c.1989G>C (p.Leu663=) | |
| 11 | g.47339711C>T | CA474217689 | MYBPC3 | c.2007G>A (p.Leu669=) c.1989G>A (p.Leu663=) | gnomAD v4 |
| 11 | g.47339712A>C | CA380321644 | MYBPC3 | c.2006T>G (p.Leu669Arg) c.1988T>G (p.Leu663Arg) | |
| 11 | g.47339712A>G | CA380321642 | MYBPC3 | c.2006T>C (p.Leu669Pro) c.1988T>C (p.Leu663Pro) | |
| 11 | g.47339712A>T | CA380321635 | MYBPC3 | c.2006T>A (p.Leu669Gln) c.1988T>A (p.Leu663Gln) | |
| 11 | g.47339713G>A | CA474217695 | MYBPC3 | c.2005C>T (p.Leu669=) c.1987C>T (p.Leu663=) | |
| 11 | g.47339713G>C | CA380321647 | MYBPC3 | c.2005C>G (p.Leu669Val) c.1987C>G (p.Leu663Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339713G= | CA1969333431 | MYBPC3 | c.2005C= (p.Leu669=) c.1987C= (p.Leu663=) | |
| 11 | g.47339713G>T | CA380321650 | MYBPC3 | c.2005C>A (p.Leu669Met) c.1987C>A (p.Leu663Met) | ClinVar dbSNP |
| 11 | g.47339714A= | CA1969333433 | MYBPC3 | c.2004T= (p.Arg668=) c.1986T= (p.Arg662=) | |
| 11 | g.47339714A>C | CA474217700 | MYBPC3 | c.2004T>G (p.Arg668=) c.1986T>G (p.Arg662=) | |
| 11 | g.47339714A>G | CA474217702 | MYBPC3 | c.2004T>C (p.Arg668=) c.1986T>C (p.Arg662=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339714A>T | CA474217704 | MYBPC3 | c.2004T>A (p.Arg668=) c.1986T>A (p.Arg662=) | dbSNP |
| 11 | g.47339715C>A | CA380321653 | MYBPC3 | c.2003G>T (p.Arg668Leu) c.1985G>T (p.Arg662Leu) | |
| 11 | g.47339715C= | CA1969333436 | MYBPC3 | c.2003G= (p.Arg668=) c.1985G= (p.Arg662=) | |
| 11 | g.47339715C>G | CA380321656 | MYBPC3 | c.2003G>C (p.Arg668Pro) c.1985G>C (p.Arg662Pro) | ClinVar dbSNP |
| 11 | g.47339715C>T | CA011643 | MYBPC3 | c.2003G>A (p.Arg668His) c.1985G>A (p.Arg662His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339715dup | CA891842475 | MYBPC3 | c.2003dup (p.Leu669SerfsTer24) c.1985dup (p.Leu663SerfsTer24) c.2003dup (p.Leu669SerfsTer25) | ClinVar dbSNP |
| 11 | g.47339716G>A | CA011634 | MYBPC3 | c.2002C>T (p.Arg668Cys) c.1984C>T (p.Arg662Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339716G>C | CA380321663 | MYBPC3 | c.2002C>G (p.Arg668Gly) c.1984C>G (p.Arg662Gly) | |
| 11 | g.47339716G= | CA1969333438 | MYBPC3 | c.2002C= (p.Arg668=) c.1984C= (p.Arg662=) | |
| 11 | g.47339716G>T | CA380321666 | MYBPC3 | c.2002C>A (p.Arg668Ser) c.1984C>A (p.Arg662Ser) | |
| 11 | g.47339717T>A | CA474217713 | MYBPC3 | c.2001A>T (p.Leu667=) c.1983A>T (p.Leu661=) | |
| 11 | g.47339717T>C | CA474217715 | MYBPC3 | c.2001A>G (p.Leu667=) c.1983A>G (p.Leu661=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339717T>G | CA474217718 | MYBPC3 | c.2001A>C (p.Leu667=) c.1983A>C (p.Leu661=) | |
| 11 | g.47339717T= | CA1969333441 | MYBPC3 | c.2001A= (p.Leu667=) c.1983A= (p.Leu661=) | |
| 11 | g.47339717_47339718delinsTA | CA1969333440 | MYBPC3 | c.2000_2001delinsTA (p.Leu667=) c.1982_1983delinsTA (p.Leu661=) | |
| 11 | g.47339717_47339719delinsTAG | CA1969333442 | MYBPC3 | c.1999_2001delinsCTA (p.Leu667=) c.1981_1983delinsCTA (p.Leu661=) | |
| 11 | g.47339718del | CA599374383 | MYBPC3 | c.2000del (p.Leu667HisfsTer15) c.1982del (p.Leu661HisfsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339718A>C | CA380321670 | MYBPC3 | c.2000T>G (p.Leu667Arg) c.1982T>G (p.Leu661Arg) | dbSNP |
| 11 | g.47339718A>G | CA380321672 | MYBPC3 | c.2000T>C (p.Leu667Pro) c.1982T>C (p.Leu661Pro) | |
| 11 | g.47339718A>T | CA380321675 | MYBPC3 | c.2000T>A (p.Leu667Gln) c.1982T>A (p.Leu661Gln) | |
| 11 | g.47339718_47339719del | CA2573051164 | MYBPC3 | c.1999_2000del (p.Leu667ThrfsTer25) c.1981_1982del (p.Leu661ThrfsTer25) c.1999_2000del (p.Leu667ThrfsTer26) | |
| 11 | g.47339718_47339719delinsC | CA011614 | MYBPC3 | c.1999_2000delinsG (p.Leu667AspfsTer15) c.1981_1982delinsG (p.Leu661AspfsTer15) | ClinVar dbSNP |
| 11 | g.47339718_47339719delinsT | CA011607 | MYBPC3 | c.1999_2000delinsA (p.Leu667AsnfsTer15) c.1981_1982delinsA (p.Leu661AsnfsTer15) | dbSNP |
| 11 | g.47339719G>A | CA047863 | MYBPC3 | c.1999C>T (p.Leu667=) c.1981C>T (p.Leu661=) | dbSNP |
| 11 | g.47339719G>C | CA380321683 | MYBPC3 | c.1999C>G (p.Leu667Val) c.1981C>G (p.Leu661Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339719G= | CA1969333447 | MYBPC3 | c.1999C= (p.Leu667=) c.1981C= (p.Leu661=) | |
| 11 | g.47339719G>T | CA078466 | MYBPC3 | c.1999C>A (p.Leu667Ile) c.1981C>A (p.Leu661Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339720C>A | CA380321686 | MYBPC3 | c.1998G>T (p.Lys666Asn) c.1980G>T (p.Lys660Asn) | |
| 11 | g.47339720C>G | CA380321688 | MYBPC3 | c.1998G>C (p.Lys666Asn) c.1980G>C (p.Lys660Asn) | |
| 11 | g.47339720C>T | CA474217744 | MYBPC3 | c.1998G>A (p.Lys666=) c.1980G>A (p.Lys660=) | |
| 11 | g.47339721T>A | CA380321691 | MYBPC3 | c.1997A>T (p.Lys666Met) c.1979A>T (p.Lys660Met) | dbSNP |
| 11 | g.47339721T>C | CA380321694 | MYBPC3 | c.1997A>G (p.Lys666Arg) c.1979A>G (p.Lys660Arg) | |
| 11 | g.47339721T>G | CA380321697 | MYBPC3 | c.1997A>C (p.Lys666Thr) c.1979A>C (p.Lys660Thr) | |
| 11 | g.47339721T= | CA1969333448 | MYBPC3 | c.1997A= (p.Lys666=) c.1979A= (p.Lys660=) | |
| 11 | g.47339722T>A | CA380321700 | MYBPC3 | c.1996A>T (p.Lys666Ter) c.1978A>T (p.Lys660Ter) | |
| 11 | g.47339722T>C | CA380321702 | MYBPC3 | c.1996A>G (p.Lys666Glu) c.1978A>G (p.Lys660Glu) | |
| 11 | g.47339722T>G | CA380321705 | MYBPC3 | c.1996A>C (p.Lys666Gln) c.1978A>C (p.Lys660Gln) | |
| 11 | g.47339723A= | CA1969333449 | MYBPC3 | c.1995T= (p.Asn665=) c.1977T= (p.Asn659=) | |
| 11 | g.47339723A>C | CA380321707 | MYBPC3 | c.1995T>G (p.Asn665Lys) c.1977T>G (p.Asn659Lys) | |
| 11 | g.47339723A>G | CA474217755 | MYBPC3 | c.1995T>C (p.Asn665=) c.1977T>C (p.Asn659=) | dbSNP |
| 11 | g.47339723A>T | CA380321711 | MYBPC3 | c.1995T>A (p.Asn665Lys) c.1977T>A (p.Asn659Lys) | |
| 11 | g.47339724T>A | CA380321712 | MYBPC3 | c.1994A>T (p.Asn665Ile) c.1976A>T (p.Asn659Ile) | |
| 11 | g.47339724T>C | CA380321713 | MYBPC3 | c.1994A>G (p.Asn665Ser) c.1976A>G (p.Asn659Ser) | |
| 11 | g.47339724T>G | CA380321714 | MYBPC3 | c.1994A>C (p.Asn665Thr) c.1976A>C (p.Asn659Thr) | |
| 11 | g.47339725T>A | CA380321719 | MYBPC3 | c.1993A>T (p.Asn665Tyr) c.1975A>T (p.Asn659Tyr) | |
| 11 | g.47339725T>C | CA380321717 | MYBPC3 | c.1993A>G (p.Asn665Asp) c.1975A>G (p.Asn659Asp) | |
| 11 | g.47339725T>G | CA380321715 | MYBPC3 | c.1993A>C (p.Asn665His) c.1975A>C (p.Asn659His) | |
| 11 | g.47339726T>A | CA474217767 | MYBPC3 | c.1992A>T (p.Gly664=) c.1974A>T (p.Gly658=) | |
| 11 | g.47339726T>C | CA474217769 | MYBPC3 | c.1992A>G (p.Gly664=) c.1974A>G (p.Gly658=) | dbSNP |
| 11 | g.47339726T>G | CA474217771 | MYBPC3 | c.1992A>C (p.Gly664=) c.1974A>C (p.Gly658=) | |
| 11 | g.47339726T= | CA1969333451 | MYBPC3 | c.1992A= (p.Gly664=) c.1974A= (p.Gly658=) | |
| 11 | g.47339727C>A | CA380321722 | MYBPC3 | c.1991G>T (p.Gly664Val) c.1973G>T (p.Gly658Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339727C= | CA1969333454 | MYBPC3 | c.1991G= (p.Gly664=) c.1973G= (p.Gly658=) | |
| 11 | g.47339727C>G | CA380321721 | MYBPC3 | c.1991G>C (p.Gly664Ala) c.1973G>C (p.Gly658Ala) | |
| 11 | g.47339727C>T | CA380321724 | MYBPC3 | c.1991G>A (p.Gly664Glu) c.1973G>A (p.Gly658Glu) | ClinVar |
| 11 | g.47339728C>A | CA380321730 | MYBPC3 | c.1990G>T (p.Gly664Ter) c.1972G>T (p.Gly658Ter) | |
| 11 | g.47339728C>G | CA380321732 | MYBPC3 | c.1990G>C (p.Gly664Arg) c.1972G>C (p.Gly658Arg) | |
| 11 | g.47339728C>T | CA380321736 | MYBPC3 | c.1990G>A (p.Gly664Arg) c.1972G>A (p.Gly658Arg) | gnomAD v4 |
| 11 | g.47339729A= | CA1969333456 | MYBPC3 | c.1989T= (p.Ala663=) c.1971T= (p.Ala657=) | |
| 11 | g.47339729A>C | CA474217781 | MYBPC3 | c.1989T>G (p.Ala663=) c.1971T>G (p.Ala657=) | |
| 11 | g.47339729A>G | CA474217785 | MYBPC3 | c.1989T>C (p.Ala663=) c.1971T>C (p.Ala657=) | gnomAD v4 |
| 11 | g.47339729A>T | CA011598 | MYBPC3 | c.1989T>A (p.Ala663=) c.1971T>A (p.Ala657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339730G>A | CA380321741 | MYBPC3 | c.1988C>T (p.Ala663Val) c.1970C>T (p.Ala657Val) | gnomAD v4 |
| 11 | g.47339730G>C | CA380321744 | MYBPC3 | c.1988C>G (p.Ala663Gly) c.1970C>G (p.Ala657Gly) | gnomAD v4 |
| 11 | g.47339730G>T | CA380321747 | MYBPC3 | c.1988C>A (p.Ala663Asp) c.1970C>A (p.Ala657Asp) | |
| 11 | g.47339731C>A | CA380321751 | MYBPC3 | c.1987G>T (p.Ala663Ser) c.1969G>T (p.Ala657Ser) | COSMIC COSMIC |
| 11 | g.47339731C>G | CA380321753 | MYBPC3 | c.1987G>C (p.Ala663Pro) c.1969G>C (p.Ala657Pro) | |
| 11 | g.47339731C>T | CA380321758 | MYBPC3 | c.1987G>A (p.Ala663Thr) c.1969G>A (p.Ala657Thr) | |
| 11 | g.47339732T>A | CA474217796 | MYBPC3 | c.1986A>T (p.Val662=) c.1968A>T (p.Val656=) | dbSNP |
| 11 | g.47339732T>C | CA221691225 | MYBPC3 | c.1986A>G (p.Val662=) c.1968A>G (p.Val656=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339732T>G | CA474217800 | MYBPC3 | c.1986A>C (p.Val662=) c.1968A>C (p.Val656=) | |
| 11 | g.47339732T= | CA1969333459 | MYBPC3 | c.1986A= (p.Val662=) c.1968A= (p.Val656=) | |
| 11 | g.47339732_47339733delinsCG | CA916081645 | MYBPC3 | c.1985_1986delinsCG (p.Val662Ala) c.1967_1968delinsCG (p.Val656Ala) | ClinVar dbSNP |
| 11 | g.47339732_47339733delinsTA | CA1969333460 | MYBPC3 | c.1985_1986delinsTA (p.Val662=) c.1967_1968delinsTA (p.Val656=) | |
| 11 | g.47339733A= | CA1969333462 | MYBPC3 | c.1985T= (p.Val662=) c.1967T= (p.Val656=) | |
| 11 | g.47339733A>C | CA380321762 | MYBPC3 | c.1985T>G (p.Val662Gly) c.1967T>G (p.Val656Gly) | |
| 11 | g.47339733A>G | CA078462 | MYBPC3 | c.1985T>C (p.Val662Ala) c.1967T>C (p.Val656Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339733A>T | CA380321768 | MYBPC3 | c.1985T>A (p.Val662Glu) c.1967T>A (p.Val656Glu) | |
| 11 | g.47339734C>A | CA380321776 | MYBPC3 | c.1984G>T (p.Val662Leu) c.1966G>T (p.Val656Leu) | |
| 11 | g.47339734C>G | CA380321773 | MYBPC3 | c.1984G>C (p.Val662Leu) c.1966G>C (p.Val656Leu) | |
| 11 | g.47339734C>T | CA380321770 | MYBPC3 | c.1984G>A (p.Val662Ile) c.1966G>A (p.Val656Ile) | |
| 11 | g.47339735A= | CA1969333464 | MYBPC3 | c.1983T= (p.Val661=) c.1965T= (p.Val655=) | |
| 11 | g.47339735A>C | CA474217816 | MYBPC3 | c.1983T>G (p.Val661=) c.1965T>G (p.Val655=) | |
| 11 | g.47339735A>G | CA474217815 | MYBPC3 | c.1983T>C (p.Val661=) c.1965T>C (p.Val655=) | |
| 11 | g.47339735A>T | CA474217813 | MYBPC3 | c.1983T>A (p.Val661=) c.1965T>A (p.Val655=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339736A>C | CA380321779 | MYBPC3 | c.1982T>G (p.Val661Gly) c.1964T>G (p.Val655Gly) | |
| 11 | g.47339736A>G | CA047827 | MYBPC3 | c.1982T>C (p.Val661Ala) c.1964T>C (p.Val655Ala) | |
| 11 | g.47339736A>T | CA380321783 | MYBPC3 | c.1982T>A (p.Val661Asp) c.1964T>A (p.Val655Asp) | |
| 11 | g.47339737C>A | CA380321785 | MYBPC3 | c.1981G>T (p.Val661Phe) c.1963G>T (p.Val655Phe) | |
| 11 | g.47339737C= | CA1969333465 | MYBPC3 | c.1981G= (p.Val661=) c.1963G= (p.Val655=) | |
| 11 | g.47339737C>G | CA380321788 | MYBPC3 | c.1981G>C (p.Val661Leu) c.1963G>C (p.Val655Leu) | |
| 11 | g.47339737C>T | CA380321790 | MYBPC3 | c.1981G>A (p.Val661Ile) c.1963G>A (p.Val655Ile) | dbSNP |
| 11 | g.47339738C>A | CA474217828 | MYBPC3 | c.1980G>T (p.Val660=) c.1962G>T (p.Val654=) | |
| 11 | g.47339738C>G | CA474217829 | MYBPC3 | c.1980G>C (p.Val660=) c.1962G>C (p.Val654=) | |
| 11 | g.47339738C>T | CA474217832 | MYBPC3 | c.1980G>A (p.Val660=) c.1962G>A (p.Val654=) | |
| 11 | g.47339739A= | CA1969333467 | MYBPC3 | c.1979T= (p.Val660=) c.1961T= (p.Val654=) | |
| 11 | g.47339739A>C | CA380321794 | MYBPC3 | c.1979T>G (p.Val660Gly) c.1961T>G (p.Val654Gly) | |
| 11 | g.47339739A>G | CA380321796 | MYBPC3 | c.1979T>C (p.Val660Ala) c.1961T>C (p.Val654Ala) | ClinVar dbSNP |
| 11 | g.47339739A>T | CA380321799 | MYBPC3 | c.1979T>A (p.Val660Glu) c.1961T>A (p.Val654Glu) | |
| 11 | g.47339740C>A | CA078460 | MYBPC3 | c.1978G>T (p.Val660Leu) c.1960G>T (p.Val654Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339740C= | CA1969333469 | MYBPC3 | c.1978G= (p.Val660=) c.1960G= (p.Val654=) | |
| 11 | g.47339740C>G | CA380321805 | MYBPC3 | c.1978G>C (p.Val660Leu) c.1960G>C (p.Val654Leu) | |
| 11 | g.47339740C>T | CA011589 | MYBPC3 | c.1978G>A (p.Val660Met) c.1960G>A (p.Val654Met) | ClinVar dbSNP |
| 11 | g.47339741A= | CA1969333472 | MYBPC3 | c.1977T= (p.Ile659=) c.1959T= (p.Ile653=) | |
| 11 | g.47339741A>C | CA380321810 | MYBPC3 | c.1977T>G (p.Ile659Met) c.1959T>G (p.Ile653Met) | ClinVar |
| 11 | g.47339741A>G | CA474217847 | MYBPC3 | c.1977T>C (p.Ile659=) c.1959T>C (p.Ile653=) | dbSNP |
| 11 | g.47339741A>T | CA474217849 | MYBPC3 | c.1977T>A (p.Ile659=) c.1959T>A (p.Ile653=) | |
| 11 | g.47339742A= | CA1969333473 | MYBPC3 | c.1976T= (p.Ile659=) c.1958T= (p.Ile653=) | |
| 11 | g.47339742A>C | CA380321816 | MYBPC3 | c.1976T>G (p.Ile659Ser) c.1958T>G (p.Ile653Ser) | |
| 11 | g.47339742A>G | CA011581 | MYBPC3 | c.1976T>C (p.Ile659Thr) c.1958T>C (p.Ile653Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339742A>T | CA380321813 | MYBPC3 | c.1976T>A (p.Ile659Asn) c.1958T>A (p.Ile653Asn) | |
| 11 | g.47339743T>A | CA380321820 | MYBPC3 | c.1975A>T (p.Ile659Phe) c.1957A>T (p.Ile653Phe) | |
| 11 | g.47339743T>C | CA380321823 | MYBPC3 | c.1975A>G (p.Ile659Val) c.1957A>G (p.Ile653Val) | |
| 11 | g.47339743T>G | CA380321826 | MYBPC3 | c.1975A>C (p.Ile659Leu) c.1957A>C (p.Ile653Leu) | ClinVar |
| 11 | g.47339744G>A | CA474217858 | MYBPC3 | c.1974C>T (p.Thr658=) c.1956C>T (p.Thr652=) | ClinVar dbSNP |
| 11 | g.47339744G>C | CA474217860 | MYBPC3 | c.1974C>G (p.Thr658=) c.1956C>G (p.Thr652=) | |
| 11 | g.47339744G= | CA1969333476 | MYBPC3 | c.1974C= (p.Thr658=) c.1956C= (p.Thr652=) | |
| 11 | g.47339744G>T | CA474217862 | MYBPC3 | c.1974C>A (p.Thr658=) c.1956C>A (p.Thr652=) | |
| 11 | g.47339745G>A | CA078457 | MYBPC3 | c.1973C>T (p.Thr658Ile) c.1955C>T (p.Thr652Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339745G>C | CA380321831 | MYBPC3 | c.1973C>G (p.Thr658Ser) c.1955C>G (p.Thr652Ser) | |
| 11 | g.47339745G= | CA1969333478 | MYBPC3 | c.1973C= (p.Thr658=) c.1955C= (p.Thr652=) | |
| 11 | g.47339745G>T | CA221691247 | MYBPC3 | c.1973C>A (p.Thr658Asn) c.1955C>A (p.Thr652Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339746T>A | CA221691248 | MYBPC3 | c.1972A>T (p.Thr658Ser) c.1954A>T (p.Thr652Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339746T>C | CA380321838 | MYBPC3 | c.1972A>G (p.Thr658Ala) c.1954A>G (p.Thr652Ala) | ClinVar gnomAD v4 |
| 11 | g.47339746T>G | CA380321840 | MYBPC3 | c.1972A>C (p.Thr658Pro) c.1954A>C (p.Thr652Pro) | |
| 11 | g.47339746T= | CA1969333480 | MYBPC3 | c.1972A= (p.Thr658=) c.1954A= (p.Thr652=) | |
| 11 | g.47339747G>A | CA078455 | MYBPC3 | c.1971C>T (p.Asp657=) c.1953C>T (p.Asp651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339747G>C | CA380321845 | MYBPC3 | c.1971C>G (p.Asp657Glu) c.1953C>G (p.Asp651Glu) | |
| 11 | g.47339747G= | CA1969333482 | MYBPC3 | c.1971C= (p.Asp657=) c.1953C= (p.Asp651=) | |
| 11 | g.47339747G>T | CA380321848 | MYBPC3 | c.1971C>A (p.Asp657Glu) c.1953C>A (p.Asp651Glu) | |
| 11 | g.47339747_47339758delinsA | CA2580084202 | MYBPC3 | c.1960_1971delinsT (p.Arg654TyrfsTer9) c.1942_1953delinsT (p.Arg648TyrfsTer9) | ClinVar |
| 11 | g.47339748T>A | CA380321857 | MYBPC3 | c.1970A>T (p.Asp657Val) c.1952A>T (p.Asp651Val) | |
| 11 | g.47339748T>C | CA380321851 | MYBPC3 | c.1970A>G (p.Asp657Gly) c.1952A>G (p.Asp651Gly) | |
| 11 | g.47339748T>G | CA380321854 | MYBPC3 | c.1970A>C (p.Asp657Ala) c.1952A>C (p.Asp651Ala) | |
| 11 | g.47339749_47339750dup | CA2695212774 | MYBPC3 | c.1969_1970dup (p.Asp657GlufsTer7) c.1951_1952dup (p.Asp651GlufsTer7) | |
| 11 | g.47339748_47339749insAG | CA2613395843 | MYBPC3 | c.1969_1970insCT (p.Asp657AlafsTer7) c.1951_1952insCT (p.Asp651AlafsTer7) | gnomAD v4 |
| 11 | g.47339749C>A | CA380321862 | MYBPC3 | c.1969G>T (p.Asp657Tyr) c.1951G>T (p.Asp651Tyr) | |
| 11 | g.47339749C>G | CA380321865 | MYBPC3 | c.1969G>C (p.Asp657His) c.1951G>C (p.Asp651His) | ClinVar gnomAD v4 |
| 11 | g.47339749C>T | CA380321868 | MYBPC3 | c.1969G>A (p.Asp657Asn) c.1951G>A (p.Asp651Asn) | |
| 11 | g.47339750T>A | CA474217875 | MYBPC3 | c.1968A>T (p.Pro656=) c.1950A>T (p.Pro650=) | |
| 11 | g.47339750T>C | CA011574 | MYBPC3 | c.1968A>G (p.Pro656=) c.1950A>G (p.Pro650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339750T>G | CA474217876 | MYBPC3 | c.1968A>C (p.Pro656=) c.1950A>C (p.Pro650=) | |
| 11 | g.47339750T= | CA1969333484 | MYBPC3 | c.1968A= (p.Pro656=) c.1950A= (p.Pro650=) | |
| 11 | g.47339750_47339753del | CA2613395856 | MYBPC3 | c.1965_1968del (p.Ile655MetfsTer7) c.1947_1950del (p.Ile649MetfsTer7) | gnomAD v4 |
| 11 | g.47339751G>A | CA221691273 | MYBPC3 | c.1967C>T (p.Pro656Leu) c.1949C>T (p.Pro650Leu) | dbSNP |
| 11 | g.47339751G>C | CA380321875 | MYBPC3 | c.1967C>G (p.Pro656Arg) c.1949C>G (p.Pro650Arg) | ClinVar dbSNP |
| 11 | g.47339751G= | CA1969333485 | MYBPC3 | c.1967C= (p.Pro656=) c.1949C= (p.Pro650=) | |
| 11 | g.47339751G>T | CA380321879 | MYBPC3 | c.1967C>A (p.Pro656Gln) c.1949C>A (p.Pro650Gln) | |
| 11 | g.47339752G>A | CA380321885 | MYBPC3 | c.1966C>T (p.Pro656Ser) c.1948C>T (p.Pro650Ser) | gnomAD v4 |
| 11 | g.47339752G>C | CA380321887 | MYBPC3 | c.1966C>G (p.Pro656Ala) c.1948C>G (p.Pro650Ala) | ClinVar |
| 11 | g.47339752G>T | CA380321889 | MYBPC3 | c.1966C>A (p.Pro656Thr) c.1948C>A (p.Pro650Thr) | COSMIC COSMIC |
| 11 | g.47339753T>A | CA474217880 | MYBPC3 | c.1965A>T (p.Ile655=) c.1947A>T (p.Ile649=) | |
| 11 | g.47339753T>C | CA047764 | MYBPC3 | c.1965A>G (p.Ile655Met) c.1947A>G (p.Ile649Met) | ClinVar gnomAD v3 gnomAD v4 |
| 11 | g.47339753T>G | CA474217881 | MYBPC3 | c.1965A>C (p.Ile655=) c.1947A>C (p.Ile649=) | |
| 11 | g.47339754A= | CA1969333486 | MYBPC3 | c.1964T= (p.Ile655=) c.1946T= (p.Ile649=) | |
| 11 | g.47339754A>C | CA380321896 | MYBPC3 | c.1964T>G (p.Ile655Arg) c.1946T>G (p.Ile649Arg) | |
| 11 | g.47339754A>G | CA380321899 | MYBPC3 | c.1964T>C (p.Ile655Thr) c.1946T>C (p.Ile649Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339754A>T | CA380321895 | MYBPC3 | c.1964T>A (p.Ile655Lys) c.1946T>A (p.Ile649Lys) | |
| 11 | g.47339755T>A | CA380321906 | MYBPC3 | c.1963A>T (p.Ile655Leu) c.1945A>T (p.Ile649Leu) | gnomAD v4 |
| 11 | g.47339755T>C | CA380321904 | MYBPC3 | c.1963A>G (p.Ile655Val) c.1945A>G (p.Ile649Val) | gnomAD v4 |
| 11 | g.47339755T>G | CA221691277 | MYBPC3 | c.1963A>C (p.Ile655Leu) c.1945A>C (p.Ile649Leu) | dbSNP |
| 11 | g.47339755T= | CA1969333488 | MYBPC3 | c.1963A= (p.Ile655=) c.1945A= (p.Ile649=) | |
| 11 | g.47339756G>A | CA474217936 | MYBPC3 | c.1962C>T (p.Arg654=) c.1944C>T (p.Arg648=) | |
| 11 | g.47339756G>C | CA474217937 | MYBPC3 | c.1962C>G (p.Arg654=) c.1944C>G (p.Arg648=) | |
| 11 | g.47339756G>T | CA474217935 | MYBPC3 | c.1962C>A (p.Arg654=) c.1944C>A (p.Arg648=) | gnomAD v4 |
| 11 | g.47339756_47339761del | CA2613395904 | MYBPC3 | c.1957_1962del (p.Gly653_Arg654del) c.1939_1944del (p.Gly647_Arg648del) | gnomAD v4 |
| 11 | g.47339757C>A | CA380321909 | MYBPC3 | c.1961G>T (p.Arg654Leu) c.1943G>T (p.Arg648Leu) | |
| 11 | g.47339757C= | CA1969333489 | MYBPC3 | c.1961G= (p.Arg654=) c.1943G= (p.Arg648=) | |
| 11 | g.47339757C>G | CA380321912 | MYBPC3 | c.1961G>C (p.Arg654Pro) c.1943G>C (p.Arg648Pro) | |
| 11 | g.47339757C>T | CA011565 | MYBPC3 | c.1961G>A (p.Arg654His) c.1943G>A (p.Arg648His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339758G>A | CA011557 | MYBPC3 | c.1960C>T (p.Arg654Cys) c.1942C>T (p.Arg648Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339758G>C | CA011549 | MYBPC3 | c.1960C>G (p.Arg654Gly) c.1942C>G (p.Arg648Gly) | ClinVar dbSNP |
| 11 | g.47339758G= | CA1969333492 | MYBPC3 | c.1960C= (p.Arg654=) c.1942C= (p.Arg648=) | |
| 11 | g.47339758G>T | CA380321917 | MYBPC3 | c.1960C>A (p.Arg654Ser) c.1942C>A (p.Arg648Ser) | |
| 11 | g.47339759dup | CA2697548572 | MYBPC3 | c.1960dup (p.Arg654ProfsTer13) c.1942dup (p.Arg648ProfsTer13) | ClinVar |
| 11 | g.47339759G>A | CA474217940 | MYBPC3 | c.1959C>T (p.Gly653=) c.1941C>T (p.Gly647=) | gnomAD v4 |
| 11 | g.47339759G>C | CA474217938 | MYBPC3 | c.1959C>G (p.Gly653=) c.1941C>G (p.Gly647=) | |
| 11 | g.47339759G>T | CA474217939 | MYBPC3 | c.1959C>A (p.Gly653=) c.1941C>A (p.Gly647=) | gnomAD v4 |
| 11 | g.47339760C>A | CA380321925 | MYBPC3 | c.1958G>T (p.Gly653Val) c.1940G>T (p.Gly647Val) | |
| 11 | g.47339760C= | CA1969333495 | MYBPC3 | c.1958G= (p.Gly653=) c.1940G= (p.Gly647=) | |
| 11 | g.47339760C>G | CA380321927 | MYBPC3 | c.1958G>C (p.Gly653Ala) c.1940G>C (p.Gly647Ala) | gnomAD v4 |
| 11 | g.47339760C>T | CA221691283 | MYBPC3 | c.1958G>A (p.Gly653Asp) c.1940G>A (p.Gly647Asp) | ClinVar dbSNP |
| 11 | g.47339761C>A | CA380321931 | MYBPC3 | c.1957G>T (p.Gly653Cys) c.1939G>T (p.Gly647Cys) | |
| 11 | g.47339761C>G | CA380321935 | MYBPC3 | c.1957G>C (p.Gly653Arg) c.1939G>C (p.Gly647Arg) | |
| 11 | g.47339761C>T | CA380321938 | MYBPC3 | c.1957G>A (p.Gly653Ser) c.1939G>A (p.Gly647Ser) | ClinVar |
| 11 | g.47339762T>A | CA474217941 | MYBPC3 | c.1956A>T (p.Pro652=) c.1938A>T (p.Pro646=) | |
| 11 | g.47339762T>C | CA474217943 | MYBPC3 | c.1956A>G (p.Pro652=) c.1938A>G (p.Pro646=) | |
| 11 | g.47339762T>G | CA474217942 | MYBPC3 | c.1956A>C (p.Pro652=) c.1938A>C (p.Pro646=) | |
| 11 | g.47339763G>A | CA380321940 | MYBPC3 | c.1955C>T (p.Pro652Leu) c.1937C>T (p.Pro646Leu) | |
| 11 | g.47339763G>C | CA078449 | MYBPC3 | c.1955C>G (p.Pro652Arg) c.1937C>G (p.Pro646Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339763G= | CA1969333496 | MYBPC3 | c.1955C= (p.Pro652=) c.1937C= (p.Pro646=) | |
| 11 | g.47339763G>T | CA380321944 | MYBPC3 | c.1955C>A (p.Pro652Gln) c.1937C>A (p.Pro646Gln) | |
| 11 | g.47339764G>A | CA380321950 | MYBPC3 | c.1954C>T (p.Pro652Ser) c.1936C>T (p.Pro646Ser) | dbSNP gnomAD v2 |
| 11 | g.47339764G>C | CA380321952 | MYBPC3 | c.1954C>G (p.Pro652Ala) c.1936C>G (p.Pro646Ala) | |
| 11 | g.47339764G= | CA1969333498 | MYBPC3 | c.1954C= (p.Pro652=) c.1936C= (p.Pro646=) | |
| 11 | g.47339764G>T | CA380321955 | MYBPC3 | c.1954C>A (p.Pro652Thr) c.1936C>A (p.Pro646Thr) | |
| 11 | g.47339765G>A | CA221691286 | MYBPC3 | c.1953C>T (p.Cys651=) c.1935C>T (p.Cys645=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339765G>C | CA380321959 | MYBPC3 | c.1953C>G (p.Cys651Trp) c.1935C>G (p.Cys645Trp) | |
| 11 | g.47339765G= | CA1969333499 | MYBPC3 | c.1953C= (p.Cys651=) c.1935C= (p.Cys645=) | |
| 11 | g.47339765G>T | CA380321962 | MYBPC3 | c.1953C>A (p.Cys651Ter) c.1935C>A (p.Cys645Ter) | ClinVar dbSNP |
| 11 | g.47339766C>A | CA380321966 | MYBPC3 | c.1952G>T (p.Cys651Phe) c.1934G>T (p.Cys645Phe) | dbSNP gnomAD v4 |
| 11 | g.47339766C= | CA1969333501 | MYBPC3 | c.1952G= (p.Cys651=) c.1934G= (p.Cys645=) | |
| 11 | g.47339766C>G | CA380321968 | MYBPC3 | c.1952G>C (p.Cys651Ser) c.1934G>C (p.Cys645Ser) | |
| 11 | g.47339766C>T | CA380321971 | MYBPC3 | c.1952G>A (p.Cys651Tyr) c.1934G>A (p.Cys645Tyr) | |
| 11 | g.47339767A>C | CA380321974 | MYBPC3 | c.1951T>G (p.Cys651Gly) c.1933T>G (p.Cys645Gly) | |
| 11 | g.47339767A>G | CA380321976 | MYBPC3 | c.1951T>C (p.Cys651Arg) c.1933T>C (p.Cys645Arg) | |
| 11 | g.47339767A>T | CA380321978 | MYBPC3 | c.1951T>A (p.Cys651Ser) c.1933T>A (p.Cys645Ser) | |
| 11 | g.47339768del | CA2580084204 | MYBPC3 | c.1950del (p.Cys651AlafsTer12) c.1932del (p.Cys645AlafsTer12) | ClinVar |
| 11 | g.47339768G>A | CA474217944 | MYBPC3 | c.1950C>T (p.Asp650=) c.1932C>T (p.Asp644=) | |
| 11 | g.47339768G>C | CA011540 | MYBPC3 | c.1950C>G (p.Asp650Glu) c.1932C>G (p.Asp644Glu) | ClinVar dbSNP |
| 11 | g.47339768G= | CA1969333502 | MYBPC3 | c.1950C= (p.Asp650=) c.1932C= (p.Asp644=) | |
| 11 | g.47339768G>T | CA380321982 | MYBPC3 | c.1950C>A (p.Asp650Glu) c.1932C>A (p.Asp644Glu) | |
| 11 | g.47339769T>A | CA380321986 | MYBPC3 | c.1949A>T (p.Asp650Val) c.1931A>T (p.Asp644Val) | |
| 11 | g.47339769T>C | CA380321989 | MYBPC3 | c.1949A>G (p.Asp650Gly) c.1931A>G (p.Asp644Gly) | gnomAD v4 |
| 11 | g.47339769T>G | CA380321992 | MYBPC3 | c.1949A>C (p.Asp650Ala) c.1931A>C (p.Asp644Ala) | dbSNP |
| 11 | g.47339769T= | CA1969333504 | MYBPC3 | c.1949A= (p.Asp650=) c.1931A= (p.Asp644=) | |
| 11 | g.47339769_47339774delinsA | CA2695212775 | MYBPC3 | c.1944_1949delinsT (p.Asp650ProfsTer15) c.1926_1931delinsT (p.Asp644ProfsTer15) | |
| 11 | g.47339770C>A | CA380321994 | MYBPC3 | c.1948G>T (p.Asp650Tyr) c.1930G>T (p.Asp644Tyr) | |
| 11 | g.47339770C>G | CA380321996 | MYBPC3 | c.1948G>C (p.Asp650His) c.1930G>C (p.Asp644His) | |
| 11 | g.47339770C>T | CA380321998 | MYBPC3 | c.1948G>A (p.Asp650Asn) c.1930G>A (p.Asp644Asn) | |
| 11 | g.47339771C>A | CA474217945 | MYBPC3 | c.1947G>T (p.Leu649=) c.1929G>T (p.Leu643=) | |
| 11 | g.47339771C= | CA1969333506 | MYBPC3 | c.1947G= (p.Leu649=) c.1929G= (p.Leu643=) | |
| 11 | g.47339771C>G | CA078445 | MYBPC3 | c.1947G>C (p.Leu649=) c.1929G>C (p.Leu643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339771C>T | CA078442 | MYBPC3 | c.1947G>A (p.Leu649=) c.1929G>A (p.Leu643=) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.47339772A>C | CA380322003 | MYBPC3 | c.1946T>G (p.Leu649Arg) c.1928T>G (p.Leu643Arg) | |
| 11 | g.47339772A>G | CA380322004 | MYBPC3 | c.1946T>C (p.Leu649Pro) c.1928T>C (p.Leu643Pro) | |
| 11 | g.47339772A>T | CA380322005 | MYBPC3 | c.1946T>A (p.Leu649Gln) c.1928T>A (p.Leu643Gln) | |
| 11 | g.47339773G>A | CA474217946 | MYBPC3 | c.1945C>T (p.Leu649=) c.1927C>T (p.Leu643=) | |
| 11 | g.47339773G>C | CA380322006 | MYBPC3 | c.1945C>G (p.Leu649Val) c.1927C>G (p.Leu643Val) | |
| 11 | g.47339773G>T | CA380322008 | MYBPC3 | c.1945C>A (p.Leu649Met) c.1927C>A (p.Leu643Met) |