Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.139874096_139874099delinsCCCA | CA1498567504 | MAML3 | c.111-143432_111-143429delinsTGGG c.2079+15258_2079+15261delinsTGGG (n.2079+15258_2079+15261delinsTGGG) c.2067+15258_2067+15261delinsTGGG (n.2067+15258_2067+15261delinsTGGG) | |
4 | g.139874097C= | CA1498567511 | MAML3 | c.111-143430G= c.2079+15260G= (n.2079+15260G=) c.2067+15260G= (n.2067+15260G=) | |
4 | g.139874097C>T | CA106766239 | MAML3 | c.111-143430G>A c.2079+15260G>A (n.2079+15260G>A) c.2067+15260G>A (n.2067+15260G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874099_139874101del | CA788038017 | MAML3 | c.111-143432_111-143430del c.2079+15258_2079+15260del (n.2079+15258_2079+15260del) c.2067+15258_2067+15260del (n.2067+15258_2067+15260del) | dbSNP |
4 | g.139874100C>A | CA1498567514 | MAML3 | c.111-143433G>T c.2079+15257G>T (n.2079+15257G>T) c.2067+15257G>T (n.2067+15257G>T) | dbSNP |
4 | g.139874100C= | CA1498567516 | MAML3 | c.111-143433G= c.2079+15257G= (n.2079+15257G=) c.2067+15257G= (n.2067+15257G=) | |
4 | g.139874100_139874103delinsCCTT | CA1498567515 | MAML3 | c.111-143436_111-143433delinsAAGG c.2079+15254_2079+15257delinsAAGG (n.2079+15254_2079+15257delinsAAGG) c.2067+15254_2067+15257delinsAAGG (n.2067+15254_2067+15257delinsAAGG) | |
4 | g.139874101C= | CA1498567522 | MAML3 | c.111-143434G= c.2079+15256G= (n.2079+15256G=) c.2067+15256G= (n.2067+15256G=) | |
4 | g.139874101C>T | CA1498567524 | MAML3 | c.111-143434G>A c.2079+15256G>A (n.2079+15256G>A) c.2067+15256G>A (n.2067+15256G>A) | dbSNP |
4 | g.139874104_139874106del | CA1498567519 | MAML3 | c.111-143436_111-143434del c.2079+15254_2079+15256del (n.2079+15254_2079+15256del) c.2067+15254_2067+15256del (n.2067+15254_2067+15256del) | dbSNP |
4 | g.139874104C= | CA1498567528 | MAML3 | c.111-143437G= c.2079+15253G= (n.2079+15253G=) c.2067+15253G= (n.2067+15253G=) | |
4 | g.139874104C>G | CA1498567529 | MAML3 | c.111-143437G>C c.2079+15253G>C (n.2079+15253G>C) c.2067+15253G>C (n.2067+15253G>C) | dbSNP |
4 | g.139874104_139874105delinsCT | CA1498567530 | MAML3 | c.111-143438_111-143437delinsAG c.2079+15252_2079+15253delinsAG (n.2079+15252_2079+15253delinsAG) c.2067+15252_2067+15253delinsAG (n.2067+15252_2067+15253delinsAG) | |
4 | g.139874110dup | CA1498567533 | MAML3 | c.111-143438dup c.2079+15252dup (n.2079+15252dup) c.2067+15252dup (n.2067+15252dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874110del | CA1498567532 | MAML3 | c.111-143438del c.2079+15252del (n.2079+15252del) c.2067+15252del (n.2067+15252del) | dbSNP |
4 | g.139874108T>C | CA555045447 | MAML3 | c.111-143441A>G c.2079+15249A>G (n.2079+15249A>G) c.2067+15249A>G (n.2067+15249A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874108T= | CA1498567535 | MAML3 | c.111-143441A= c.2079+15249A= (n.2079+15249A=) c.2067+15249A= (n.2067+15249A=) | |
4 | g.139874112G>A | CA788038028 | MAML3 | c.111-143445C>T c.2079+15245C>T (n.2079+15245C>T) c.2067+15245C>T (n.2067+15245C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874112G= | CA1498567537 | MAML3 | c.111-143445C= c.2079+15245C= (n.2079+15245C=) c.2067+15245C= (n.2067+15245C=) | |
4 | g.139874115T>C | CA1498567540 | MAML3 | c.111-143448A>G c.2079+15242A>G (n.2079+15242A>G) c.2067+15242A>G (n.2067+15242A>G) | dbSNP |
4 | g.139874115T= | CA1498567539 | MAML3 | c.111-143448A= c.2079+15242A= (n.2079+15242A=) c.2067+15242A= (n.2067+15242A=) | |
4 | g.139874121T>G | CA2707426594 | MAML3 | c.111-143454A>C c.2079+15236A>C (n.2079+15236A>C) c.2067+15236A>C (n.2067+15236A>C) | dbSNP |
4 | g.139874128A= | CA1498567543 | MAML3 | c.111-143461T= c.2079+15229T= (n.2079+15229T=) c.2067+15229T= (n.2067+15229T=) | |
4 | g.139874128A>G | CA788038031 | MAML3 | c.111-143461T>C c.2079+15229T>C (n.2079+15229T>C) c.2067+15229T>C (n.2067+15229T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874129A= | CA1498567546 | MAML3 | c.111-143462T= c.2079+15228T= (n.2079+15228T=) c.2067+15228T= (n.2067+15228T=) | |
4 | g.139874129A>G | CA106766241 | MAML3 | c.111-143462T>C c.2079+15228T>C (n.2079+15228T>C) c.2067+15228T>C (n.2067+15228T>C) | dbSNP |
4 | g.139874132G= | CA1498567549 | MAML3 | c.111-143465C= c.2079+15225C= (n.2079+15225C=) c.2067+15225C= (n.2067+15225C=) | |
4 | g.139874132G>T | CA1068725729 | MAML3 | c.111-143465C>A c.2079+15225C>A (n.2079+15225C>A) c.2067+15225C>A (n.2067+15225C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874134A= | CA1498567552 | MAML3 | c.111-143467T= c.2079+15223T= (n.2079+15223T=) c.2067+15223T= (n.2067+15223T=) | |
4 | g.139874134A>C | CA1068725731 | MAML3 | c.111-143467T>G c.2079+15223T>G (n.2079+15223T>G) c.2067+15223T>G (n.2067+15223T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874134A>T | CA788038035 | MAML3 | c.111-143467T>A c.2079+15223T>A (n.2079+15223T>A) c.2067+15223T>A (n.2067+15223T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874135A= | CA1498567554 | MAML3 | c.111-143468T= c.2079+15222T= (n.2079+15222T=) c.2067+15222T= (n.2067+15222T=) | |
4 | g.139874135A>G | CA106766242 | MAML3 | c.111-143468T>C c.2079+15222T>C (n.2079+15222T>C) c.2067+15222T>C (n.2067+15222T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874137G>A | CA555045448 | MAML3 | c.111-143470C>T c.2079+15220C>T (n.2079+15220C>T) c.2067+15220C>T (n.2067+15220C>T) | gnomAD v2 |
4 | g.139874145T>C | CA1498567557 | MAML3 | c.111-143478A>G c.2079+15212A>G (n.2079+15212A>G) c.2067+15212A>G (n.2067+15212A>G) | dbSNP |
4 | g.139874145T= | CA1498567556 | MAML3 | c.111-143478A= c.2079+15212A= (n.2079+15212A=) c.2067+15212A= (n.2067+15212A=) | |
4 | g.139874147A= | CA1498567559 | MAML3 | c.111-143480T= c.2079+15210T= (n.2079+15210T=) c.2067+15210T= (n.2067+15210T=) | |
4 | g.139874147A>T | CA555045450 | MAML3 | c.111-143480T>A c.2079+15210T>A (n.2079+15210T>A) c.2067+15210T>A (n.2067+15210T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874149C= | CA1498567560 | MAML3 | c.111-143482G= c.2079+15208G= (n.2079+15208G=) c.2067+15208G= (n.2067+15208G=) | |
4 | g.139874149C>T | CA1498567562 | MAML3 | c.111-143482G>A c.2079+15208G>A (n.2079+15208G>A) c.2067+15208G>A (n.2067+15208G>A) | dbSNP |
4 | g.139874152C= | CA1498567564 | MAML3 | c.111-143485G= c.2079+15205G= (n.2079+15205G=) c.2067+15205G= (n.2067+15205G=) | |
4 | g.139874152C>T | CA788038036 | MAML3 | c.111-143485G>A c.2079+15205G>A (n.2079+15205G>A) c.2067+15205G>A (n.2067+15205G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874155A= | CA1498567566 | MAML3 | c.111-143488T= c.2079+15202T= (n.2079+15202T=) c.2067+15202T= (n.2067+15202T=) | |
4 | g.139874155A>G | CA788038038 | MAML3 | c.111-143488T>C c.2079+15202T>C (n.2079+15202T>C) c.2067+15202T>C (n.2067+15202T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874159A= | CA1498567568 | MAML3 | c.111-143492T= c.2079+15198T= (n.2079+15198T=) c.2067+15198T= (n.2067+15198T=) | |
4 | g.139874159A>G | CA1068725739 | MAML3 | c.111-143492T>C c.2079+15198T>C (n.2079+15198T>C) c.2067+15198T>C (n.2067+15198T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874160C= | CA1498567569 | MAML3 | c.111-143493G= c.2079+15197G= (n.2079+15197G=) c.2067+15197G= (n.2067+15197G=) | |
4 | g.139874160C>T | CA1068725741 | MAML3 | c.111-143493G>A c.2079+15197G>A (n.2079+15197G>A) c.2067+15197G>A (n.2067+15197G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874161C>A | CA2530280932 | MAML3 | c.111-143494G>T c.2079+15196G>T (n.2079+15196G>T) c.2067+15196G>T (n.2067+15196G>T) | |
4 | g.139874164A>G | CA2763763279 | MAML3 | c.111-143497T>C c.2079+15193T>C (n.2079+15193T>C) c.2067+15193T>C (n.2067+15193T>C) | |
4 | g.139874167C= | CA1498567572 | MAML3 | c.111-143500G= c.2079+15190G= (n.2079+15190G=) c.2067+15190G= (n.2067+15190G=) | |
4 | g.139874167C>T | CA555045451 | MAML3 | c.111-143500G>A c.2079+15190G>A (n.2079+15190G>A) c.2067+15190G>A (n.2067+15190G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874171G>A | CA1498567575 | MAML3 | c.111-143504C>T c.2079+15186C>T (n.2079+15186C>T) c.2067+15186C>T (n.2067+15186C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874171G= | CA1498567574 | MAML3 | c.111-143504C= c.2079+15186C= (n.2079+15186C=) c.2067+15186C= (n.2067+15186C=) | |
4 | g.139874173G>A | CA106766243 | MAML3 | c.111-143506C>T c.2079+15184C>T (n.2079+15184C>T) c.2067+15184C>T (n.2067+15184C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874173G>C | CA2581462301 | MAML3 | c.111-143506C>G c.2079+15184C>G (n.2079+15184C>G) c.2067+15184C>G (n.2067+15184C>G) | |
4 | g.139874173G= | CA1498567577 | MAML3 | c.111-143506C= c.2079+15184C= (n.2079+15184C=) c.2067+15184C= (n.2067+15184C=) | |
4 | g.139874173G>T | CA2581462302 | MAML3 | c.111-143506C>A c.2079+15184C>A (n.2079+15184C>A) c.2067+15184C>A (n.2067+15184C>A) | |
4 | g.139874175G>T | CA2605111295 | MAML3 | c.111-143508C>A c.2079+15182C>A (n.2079+15182C>A) c.2067+15182C>A (n.2067+15182C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874176T>A | CA106766246 | MAML3 | c.111-143509A>T c.2079+15181A>T (n.2079+15181A>T) c.2067+15181A>T (n.2067+15181A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139874176T= | CA1498567578 | MAML3 | c.111-143509A= c.2079+15181A= (n.2079+15181A=) c.2067+15181A= (n.2067+15181A=) | |
4 | g.139874178C= | CA1498567579 | MAML3 | c.111-143511G= c.2079+15179G= (n.2079+15179G=) c.2067+15179G= (n.2067+15179G=) | |
4 | g.139874178C>G | CA1068725748 | MAML3 | c.111-143511G>C c.2079+15179G>C (n.2079+15179G>C) c.2067+15179G>C (n.2067+15179G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874179T>C | CA1498567581 | MAML3 | c.111-143512A>G c.2079+15178A>G (n.2079+15178A>G) c.2067+15178A>G (n.2067+15178A>G) | dbSNP |
4 | g.139874179T= | CA1498567580 | MAML3 | c.111-143512A= c.2079+15178A= (n.2079+15178A=) c.2067+15178A= (n.2067+15178A=) | |
4 | g.139874182A>G | CA2763763280 | MAML3 | c.111-143515T>C c.2079+15175T>C (n.2079+15175T>C) c.2067+15175T>C (n.2067+15175T>C) | |
4 | g.139874183A= | CA1498567582 | MAML3 | c.111-143516T= c.2079+15174T= (n.2079+15174T=) c.2067+15174T= (n.2067+15174T=) | |
4 | g.139874183A>G | CA1498567584 | MAML3 | c.111-143516T>C c.2079+15174T>C (n.2079+15174T>C) c.2067+15174T>C (n.2067+15174T>C) | dbSNP |
4 | g.139874183A>T | CA1498567586 | MAML3 | c.111-143516T>A c.2079+15174T>A (n.2079+15174T>A) c.2067+15174T>A (n.2067+15174T>A) | dbSNP |
4 | g.139874183_139874184insTTAT | CA1068725749 | MAML3 | c.111-143517_111-143516insATAA c.2079+15173_2079+15174insATAA (n.2079+15173_2079+15174insATAA) c.2067+15173_2067+15174insATAA (n.2067+15173_2067+15174insATAA) | gnomAD v3 gnomAD v4 |
4 | g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT | CA1068725751 | MAML3 | c.111-143517_111-143516insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA c.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) c.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) | gnomAD v3 gnomAD v4 |
4 | g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTTGCTAACAGTT | CA1068725753 | MAML3 | c.111-143517_111-143516insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA c.2079+15173_2079+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2079+15173_2079+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) c.2067+15173_2067+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2067+15173_2067+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) | gnomAD v3 gnomAD v4 |
4 | g.139874184_139874185insCAGGAGGAACAATCTTGTCAGA | CA1068725756 | MAML3 | c.111-143518_111-143517insTCTGACAAGATTGTTCCTCCTG c.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG (n.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG) c.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG (n.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG) | gnomAD v3 gnomAD v4 |
4 | g.139874187_139874188insAAGATTGATTTTTTTTAAAAAAA | CA1068725758 | MAML3 | c.111-143521_111-143520insTTTTTTTAAAAAAAATCAATCTT c.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT (n.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT) c.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT (n.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT) | gnomAD v3 gnomAD v4 |
4 | g.139874188T>A | CA1068725760 | MAML3 | c.111-143521A>T c.2079+15169A>T (n.2079+15169A>T) c.2067+15169A>T (n.2067+15169A>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874188T= | CA1498567587 | MAML3 | c.111-143521A= c.2079+15169A= (n.2079+15169A=) c.2067+15169A= (n.2067+15169A=) | |
4 | g.139874189C= | CA1498567588 | MAML3 | c.111-143522G= c.2079+15168G= (n.2079+15168G=) c.2067+15168G= (n.2067+15168G=) | |
4 | g.139874189C>G | CA1068725761 | MAML3 | c.111-143522G>C c.2079+15168G>C (n.2079+15168G>C) c.2067+15168G>C (n.2067+15168G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874190_139874191insCCAGTGAAACTTGCTAACAGTTGGCTTTT | CA1068725762 | MAML3 | c.111-143524_111-143523insAAAAGCCAACTGTTAGCAAGTTTCACTGG c.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG (n.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG) c.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG (n.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG) | gnomAD v3 gnomAD v4 |
4 | g.139874191_139874193delinsAAG | CA1498567590 | MAML3 | c.111-143526_111-143524delinsCTT c.2079+15164_2079+15166delinsCTT (n.2079+15164_2079+15166delinsCTT) c.2067+15164_2067+15166delinsCTT (n.2067+15164_2067+15166delinsCTT) | |
4 | g.139874192A= | CA1498567592 | MAML3 | c.111-143525T= c.2079+15165T= (n.2079+15165T=) c.2067+15165T= (n.2067+15165T=) | |
4 | g.139874192A>C | CA788038046 | MAML3 | c.111-143525T>G c.2079+15165T>G (n.2079+15165T>G) c.2067+15165T>G (n.2067+15165T>G) | dbSNP |
4 | g.139874192A>T | CA1068725766 | MAML3 | c.111-143525T>A c.2079+15165T>A (n.2079+15165T>A) c.2067+15165T>A (n.2067+15165T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874194_139874195del | CA1068725767 | MAML3 | c.111-143526_111-143525del c.2079+15164_2079+15165del (n.2079+15164_2079+15165del) c.2067+15164_2067+15165del (n.2067+15164_2067+15165del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874193G>A | CA106766249 | MAML3 | c.111-143526C>T c.2079+15164C>T (n.2079+15164C>T) c.2067+15164C>T (n.2067+15164C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874193G= | CA1498567595 | MAML3 | c.111-143526C= c.2079+15164C= (n.2079+15164C=) c.2067+15164C= (n.2067+15164C=) | |
4 | g.139874193G>T | CA2763763281 | MAML3 | c.111-143526C>A c.2079+15164C>A (n.2079+15164C>A) c.2067+15164C>A (n.2067+15164C>A) | |
4 | g.139874196T>C | CA1068725781 | MAML3 | c.111-143529A>G c.2079+15161A>G (n.2079+15161A>G) c.2067+15161A>G (n.2067+15161A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.139874196T= | CA1498567597 | MAML3 | c.111-143529A= c.2079+15161A= (n.2079+15161A=) c.2067+15161A= (n.2067+15161A=) | |
4 | g.139874197C= | CA1498567599 | MAML3 | c.111-143530G= c.2079+15160G= (n.2079+15160G=) c.2067+15160G= (n.2067+15160G=) | |
4 | g.139874197C>G | CA788038052 | MAML3 | c.111-143530G>C c.2079+15160G>C (n.2079+15160G>C) c.2067+15160G>C (n.2067+15160G>C) | dbSNP gnomAD v3 gnomAD v4 |