| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7585415_7585416delinsTC | CA1608614345 | DSP | c.6824_6825delinsTC (p.Leu2275=) c.8153_8154delinsTC (p.Leu2718=) c.6356_6357delinsTC (p.Leu2119=) | |
| 6 | g.7585416C>A | CA448717153 | DSP | c.6825C>A (p.Leu2275=) c.8154C>A (p.Leu2718=) c.6357C>A (p.Leu2119=) | |
| 6 | g.7585416C= | CA1608614359 | DSP | c.6825C= (p.Leu2275=) c.8154C= (p.Leu2718=) c.6357C= (p.Leu2119=) | |
| 6 | g.7585416C>G | CA448717154 | DSP | c.6825C>G (p.Leu2275=) c.8154C>G (p.Leu2718=) c.6357C>G (p.Leu2119=) | ClinVar gnomAD v4 |
| 6 | g.7585416C>T | CA448717155 | DSP | c.6825C>T (p.Leu2275=) c.8154C>T (p.Leu2718=) c.6357C>T (p.Leu2119=) | dbSNP |
| 6 | g.7585418del | CA007404 | DSP | c.6827del (p.Pro2276ArgfsTer27) c.8156del (p.Pro2719ArgfsTer27) c.6359del (p.Pro2120ArgfsTer27) | ClinVar dbSNP |
| 6 | g.7585417C>A | CA362694559 | DSP | c.6826C>A (p.Pro2276Thr) c.8155C>A (p.Pro2719Thr) c.6358C>A (p.Pro2120Thr) | |
| 6 | g.7585417C>G | CA362694560 | DSP | c.6826C>G (p.Pro2276Ala) c.8155C>G (p.Pro2719Ala) c.6358C>G (p.Pro2120Ala) | |
| 6 | g.7585417C>T | CA362694561 | DSP | c.6826C>T (p.Pro2276Ser) c.8155C>T (p.Pro2719Ser) c.6358C>T (p.Pro2120Ser) | |
| 6 | g.7585418C>A | CA362694562 | DSP | c.6827C>A (p.Pro2276Gln) c.8156C>A (p.Pro2719Gln) c.6359C>A (p.Pro2120Gln) | ClinVar dbSNP |
| 6 | g.7585418C= | CA1608614365 | DSP | c.6827C= (p.Pro2276=) c.8156C= (p.Pro2719=) c.6359C= (p.Pro2120=) | |
| 6 | g.7585418C>G | CA362694563 | DSP | c.6827C>G (p.Pro2276Arg) c.8156C>G (p.Pro2719Arg) c.6359C>G (p.Pro2120Arg) | |
| 6 | g.7585418C>T | CA362694564 | DSP | c.6827C>T (p.Pro2276Leu) c.8156C>T (p.Pro2719Leu) c.6359C>T (p.Pro2120Leu) | ClinVar |
| 6 | g.7585419G>A | CA448717162 | DSP | c.6828G>A (p.Pro2276=) c.8157G>A (p.Pro2719=) c.6360G>A (p.Pro2120=) | gnomAD v4 COSMIC |
| 6 | g.7585419G>C | CA051631 | DSP | c.6828G>C (p.Pro2276=) c.8157G>C (p.Pro2719=) c.6360G>C (p.Pro2120=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7585419G= | CA1608614372 | DSP | c.6828G= (p.Pro2276=) c.8157G= (p.Pro2719=) c.6360G= (p.Pro2120=) | |
| 6 | g.7585419G>T | CA448717164 | DSP | c.6828G>T (p.Pro2276=) c.8157G>T (p.Pro2719=) c.6360G>T (p.Pro2120=) | |
| 6 | g.7585420T>A | CA362694565 | DSP | c.6829T>A (p.Tyr2277Asn) c.8158T>A (p.Tyr2720Asn) c.6361T>A (p.Tyr2121Asn) | |
| 6 | g.7585420T>C | CA362694567 | DSP | c.6829T>C (p.Tyr2277His) c.8158T>C (p.Tyr2720His) c.6361T>C (p.Tyr2121His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585420T>G | CA362694566 | DSP | c.6829T>G (p.Tyr2277Asp) c.8158T>G (p.Tyr2720Asp) c.6361T>G (p.Tyr2121Asp) | |
| 6 | g.7585420T= | CA1608614377 | DSP | c.6829T= (p.Tyr2277=) c.8158T= (p.Tyr2720=) c.6361T= (p.Tyr2121=) | |
| 6 | g.7585421A= | CA1608614404 | DSP | c.6830A= (p.Tyr2277=) c.8159A= (p.Tyr2720=) c.6362A= (p.Tyr2121=) | |
| 6 | g.7585421A>C | CA362694568 | DSP | c.6830A>C (p.Tyr2277Ser) c.8159A>C (p.Tyr2720Ser) c.6362A>C (p.Tyr2121Ser) | |
| 6 | g.7585421A>G | CA362694569 | DSP | c.6830A>G (p.Tyr2277Cys) c.8159A>G (p.Tyr2720Cys) c.6362A>G (p.Tyr2121Cys) | ClinVar dbSNP |
| 6 | g.7585421A>T | CA133977300 | DSP | c.6830A>T (p.Tyr2277Phe) c.8159A>T (p.Tyr2720Phe) c.6362A>T (p.Tyr2121Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585422T>A | CA362694570 | DSP | c.6831T>A (p.Tyr2277Ter) c.8160T>A (p.Tyr2720Ter) c.6363T>A (p.Tyr2121Ter) | |
| 6 | g.7585422T>C | CA448717169 | DSP | c.6831T>C (p.Tyr2277=) c.8160T>C (p.Tyr2720=) c.6363T>C (p.Tyr2121=) | |
| 6 | g.7585422T>G | CA362694571 | DSP | c.6831T>G (p.Tyr2277Ter) c.8160T>G (p.Tyr2720Ter) c.6363T>G (p.Tyr2121Ter) | |
| 6 | g.7585423G>A | CA362694572 | DSP | c.6832G>A (p.Glu2278Lys) c.8161G>A (p.Glu2721Lys) c.6364G>A (p.Glu2122Lys) | |
| 6 | g.7585423G>C | CA362694573 | DSP | c.6832G>C (p.Glu2278Gln) c.8161G>C (p.Glu2721Gln) c.6364G>C (p.Glu2122Gln) | gnomAD v4 |
| 6 | g.7585423G>T | CA362694574 | DSP | c.6832G>T (p.Glu2278Ter) c.8161G>T (p.Glu2721Ter) c.6364G>T (p.Glu2122Ter) | |
| 6 | g.7585424A= | CA1608614409 | DSP | c.6833A= (p.Glu2278=) c.8162A= (p.Glu2721=) c.6365A= (p.Glu2122=) | |
| 6 | g.7585424A>C | CA362694575 | DSP | c.6833A>C (p.Glu2278Ala) c.8162A>C (p.Glu2721Ala) c.6365A>C (p.Glu2122Ala) | |
| 6 | g.7585424A>G | CA362694576 | DSP | c.6833A>G (p.Glu2278Gly) c.8162A>G (p.Glu2721Gly) c.6365A>G (p.Glu2122Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585424A>T | CA362694577 | DSP | c.6833A>T (p.Glu2278Val) c.8162A>T (p.Glu2721Val) c.6365A>T (p.Glu2122Val) | |
| 6 | g.7585425G>A | CA448717172 | DSP | c.6834G>A (p.Glu2278=) c.8163G>A (p.Glu2721=) c.6366G>A (p.Glu2122=) | ClinVar |
| 6 | g.7585425G>C | CA362694578 | DSP | c.6834G>C (p.Glu2278Asp) c.8163G>C (p.Glu2721Asp) c.6366G>C (p.Glu2122Asp) | |
| 6 | g.7585425G= | CA1608614413 | DSP | c.6834G= (p.Glu2278=) c.8163G= (p.Glu2721=) c.6366G= (p.Glu2122=) | |
| 6 | g.7585425G>T | CA051644 | DSP | c.6834G>T (p.Glu2278Asp) c.8163G>T (p.Glu2721Asp) c.6366G>T (p.Glu2122Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585426G>A | CA362694579 | DSP | c.6835G>A (p.Ala2279Thr) c.8164G>A (p.Ala2722Thr) c.6367G>A (p.Ala2123Thr) | ClinVar |
| 6 | g.7585426G>C | CA362694580 | DSP | c.6835G>C (p.Ala2279Pro) c.8164G>C (p.Ala2722Pro) c.6367G>C (p.Ala2123Pro) | |
| 6 | g.7585426G>T | CA362694581 | DSP | c.6835G>T (p.Ala2279Ser) c.8164G>T (p.Ala2722Ser) c.6367G>T (p.Ala2123Ser) | |
| 6 | g.7585427C>A | CA362694582 | DSP | c.6836C>A (p.Ala2279Asp) c.8165C>A (p.Ala2722Asp) c.6368C>A (p.Ala2123Asp) | |
| 6 | g.7585427C>G | CA362694584 | DSP | c.6836C>G (p.Ala2279Gly) c.8165C>G (p.Ala2722Gly) c.6368C>G (p.Ala2123Gly) | ClinVar |
| 6 | g.7585427C>T | CA362694583 | DSP | c.6836C>T (p.Ala2279Val) c.8165C>T (p.Ala2722Val) c.6368C>T (p.Ala2123Val) | |
| 6 | g.7585428T>A | CA448717178 | DSP | c.6837T>A (p.Ala2279=) c.8166T>A (p.Ala2722=) c.6369T>A (p.Ala2123=) | |
| 6 | g.7585428T>C | CA448717179 | DSP | c.6837T>C (p.Ala2279=) c.8166T>C (p.Ala2722=) c.6369T>C (p.Ala2123=) | |
| 6 | g.7585428T>G | CA448717180 | DSP | c.6837T>G (p.Ala2279=) c.8166T>G (p.Ala2722=) c.6369T>G (p.Ala2123=) | ClinVar dbSNP |
| 6 | g.7585428T= | CA1608614417 | DSP | c.6837T= (p.Ala2279=) c.8166T= (p.Ala2722=) c.6369T= (p.Ala2123=) | |
| 6 | g.7585429G>A | CA362694585 | DSP | c.6838G>A (p.Gly2280Ser) c.8167G>A (p.Gly2723Ser) c.6370G>A (p.Gly2124Ser) | gnomAD v4 |
| 6 | g.7585429G>C | CA362694586 | DSP | c.6838G>C (p.Gly2280Arg) c.8167G>C (p.Gly2723Arg) c.6370G>C (p.Gly2124Arg) | |
| 6 | g.7585429G>T | CA362694587 | DSP | c.6838G>T (p.Gly2280Cys) c.8167G>T (p.Gly2723Cys) c.6370G>T (p.Gly2124Cys) | |
| 6 | g.7585430G>A | CA362694588 | DSP | c.6839G>A (p.Gly2280Asp) c.8168G>A (p.Gly2723Asp) c.6371G>A (p.Gly2124Asp) | |
| 6 | g.7585430G>C | CA362694589 | DSP | c.6839G>C (p.Gly2280Ala) c.8168G>C (p.Gly2723Ala) c.6371G>C (p.Gly2124Ala) | |
| 6 | g.7585430G>T | CA362694590 | DSP | c.6839G>T (p.Gly2280Val) c.8168G>T (p.Gly2723Val) c.6371G>T (p.Gly2124Val) | |
| 6 | g.7585431C>A | CA448717189 | DSP | c.6840C>A (p.Gly2280=) c.8169C>A (p.Gly2723=) c.6372C>A (p.Gly2124=) | |
| 6 | g.7585431C= | CA1608614428 | DSP | c.6840C= (p.Gly2280=) c.8169C= (p.Gly2723=) c.6372C= (p.Gly2124=) | |
| 6 | g.7585431C>G | CA448717187 | DSP | c.6840C>G (p.Gly2280=) c.8169C>G (p.Gly2723=) c.6372C>G (p.Gly2124=) | ClinVar dbSNP |
| 6 | g.7585431C>T | CA448717188 | DSP | c.6840C>T (p.Gly2280=) c.8169C>T (p.Gly2723=) c.6372C>T (p.Gly2124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585432C>A | CA362694591 | DSP | c.6841C>A (p.Gln2281Lys) c.8170C>A (p.Gln2724Lys) c.6373C>A (p.Gln2125Lys) | gnomAD v4 |
| 6 | g.7585432C= | CA1608614434 | DSP | c.6841C= (p.Gln2281=) c.8170C= (p.Gln2724=) c.6373C= (p.Gln2125=) | |
| 6 | g.7585432C>G | CA362694592 | DSP | c.6841C>G (p.Gln2281Glu) c.8170C>G (p.Gln2724Glu) c.6373C>G (p.Gln2125Glu) | |
| 6 | g.7585432C>T | CA10584685 | DSP | c.6841C>T (p.Gln2281Ter) c.8170C>T (p.Gln2724Ter) c.6373C>T (p.Gln2125Ter) | ClinVar dbSNP |
| 6 | g.7585433A= | CA1608614441 | DSP | c.6842A= (p.Gln2281=) c.8171A= (p.Gln2724=) c.6374A= (p.Gln2125=) | |
| 6 | g.7585433A>C | CA362694595 | DSP | c.6842A>C (p.Gln2281Pro) c.8171A>C (p.Gln2724Pro) c.6374A>C (p.Gln2125Pro) | |
| 6 | g.7585433A>G | CA362694594 | DSP | c.6842A>G (p.Gln2281Arg) c.8171A>G (p.Gln2724Arg) c.6374A>G (p.Gln2125Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585433A>T | CA362694593 | DSP | c.6842A>T (p.Gln2281Leu) c.8171A>T (p.Gln2724Leu) c.6374A>T (p.Gln2125Leu) | |
| 6 | g.7585434G>A | CA448717193 | DSP | c.6843G>A (p.Gln2281=) c.8172G>A (p.Gln2724=) c.6375G>A (p.Gln2125=) | |
| 6 | g.7585434G>C | CA362694596 | DSP | c.6843G>C (p.Gln2281His) c.8172G>C (p.Gln2724His) c.6375G>C (p.Gln2125His) | |
| 6 | g.7585434G= | CA1608614448 | DSP | c.6843G= (p.Gln2281=) c.8172G= (p.Gln2724=) c.6375G= (p.Gln2125=) | |
| 6 | g.7585434G>T | CA051666 | DSP | c.6843G>T (p.Gln2281His) c.8172G>T (p.Gln2724His) c.6375G>T (p.Gln2125His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585434_7585435delinsGC | CA1608614451 | DSP | c.6843_6844delinsGC (p.Gln2281=) c.8172_8173delinsGC (p.Gln2724=) c.6375_6376delinsGC (p.Gln2125=) | |
| 6 | g.7585435del | CA1139659426 | DSP | c.6844del (p.Arg2282AlafsTer21) c.8173del (p.Arg2725AlafsTer21) c.6376del (p.Arg2126AlafsTer21) | ClinVar dbSNP |
| 6 | g.7585435C>A | CA362694597 | DSP | c.6844C>A (p.Arg2282Ser) c.8173C>A (p.Arg2725Ser) c.6376C>A (p.Arg2126Ser) | ClinVar |
| 6 | g.7585435C= | CA1608614457 | DSP | c.6844C= (p.Arg2282=) c.8173C= (p.Arg2725=) c.6376C= (p.Arg2126=) | |
| 6 | g.7585435C>G | CA362694598 | DSP | c.6844C>G (p.Arg2282Gly) c.8173C>G (p.Arg2725Gly) c.6376C>G (p.Arg2126Gly) | |
| 6 | g.7585435C>T | CA051674 | DSP | c.6844C>T (p.Arg2282Cys) c.8173C>T (p.Arg2725Cys) c.6376C>T (p.Arg2126Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585436G>A | CA051686 | DSP | c.6845G>A (p.Arg2282His) c.8174G>A (p.Arg2725His) c.6377G>A (p.Arg2126His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585436G>C | CA362694599 | DSP | c.6845G>C (p.Arg2282Pro) c.8174G>C (p.Arg2725Pro) c.6377G>C (p.Arg2126Pro) | |
| 6 | g.7585436G= | CA1608614465 | DSP | c.6845G= (p.Arg2282=) c.8174G= (p.Arg2725=) c.6377G= (p.Arg2126=) | |
| 6 | g.7585436G>T | CA362694600 | DSP | c.6845G>T (p.Arg2282Leu) c.8174G>T (p.Arg2725Leu) c.6377G>T (p.Arg2126Leu) | |
| 6 | g.7585437C>A | CA007412 | DSP | c.6846C>A (p.Arg2282=) c.8175C>A (p.Arg2725=) c.6378C>A (p.Arg2126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585437C= | CA1608614480 | DSP | c.6846C= (p.Arg2282=) c.8175C= (p.Arg2725=) c.6378C= (p.Arg2126=) | |
| 6 | g.7585437C>G | CA133977350 | DSP | c.6846C>G (p.Arg2282=) c.8175C>G (p.Arg2725=) c.6378C>G (p.Arg2126=) | dbSNP |
| 6 | g.7585437C>T | CA448717199 | DSP | c.6846C>T (p.Arg2282=) c.8175C>T (p.Arg2725=) c.6378C>T (p.Arg2126=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585438T>A | CA362694601 | DSP | c.6847T>A (p.Phe2283Ile) c.8176T>A (p.Phe2726Ile) c.6379T>A (p.Phe2127Ile) | |
| 6 | g.7585438T>C | CA362694602 | DSP | c.6847T>C (p.Phe2283Leu) c.8176T>C (p.Phe2726Leu) c.6379T>C (p.Phe2127Leu) | |
| 6 | g.7585438T>G | CA362694603 | DSP | c.6847T>G (p.Phe2283Val) c.8176T>G (p.Phe2726Val) c.6379T>G (p.Phe2127Val) | |
| 6 | g.7585439T>A | CA362694606 | DSP | c.6848T>A (p.Phe2283Tyr) c.8177T>A (p.Phe2726Tyr) c.6380T>A (p.Phe2127Tyr) | |
| 6 | g.7585439T>C | CA362694604 | DSP | c.6848T>C (p.Phe2283Ser) c.8177T>C (p.Phe2726Ser) c.6380T>C (p.Phe2127Ser) | |
| 6 | g.7585439T>G | CA362694605 | DSP | c.6848T>G (p.Phe2283Cys) c.8177T>G (p.Phe2726Cys) c.6380T>G (p.Phe2127Cys) | |
| 6 | g.7585440C>A | CA362694607 | DSP | c.6849C>A (p.Phe2283Leu) c.8178C>A (p.Phe2726Leu) c.6381C>A (p.Phe2127Leu) | |
| 6 | g.7585440C= | CA1608614492 | DSP | c.6849C= (p.Phe2283=) c.8178C= (p.Phe2726=) c.6381C= (p.Phe2127=) | |
| 6 | g.7585440C>G | CA362694608 | DSP | c.6849C>G (p.Phe2283Leu) c.8178C>G (p.Phe2726Leu) c.6381C>G (p.Phe2127Leu) | dbSNP |
| 6 | g.7585440C>T | CA133977358 | DSP | c.6849C>T (p.Phe2283=) c.8178C>T (p.Phe2726=) c.6381C>T (p.Phe2127=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585441C>A | CA362694609 | DSP | c.6850C>A (p.Leu2284Met) c.8179C>A (p.Leu2727Met) c.6382C>A (p.Leu2128Met) | |
| 6 | g.7585441C= | CA1608614495 | DSP | c.6850C= (p.Leu2284=) c.8179C= (p.Leu2727=) c.6382C= (p.Leu2128=) | |
| 6 | g.7585441C>G | CA362694610 | DSP | c.6850C>G (p.Leu2284Val) c.8179C>G (p.Leu2727Val) c.6382C>G (p.Leu2128Val) | |
| 6 | g.7585441C>T | CA051704 | DSP | c.6850C>T (p.Leu2284=) c.8179C>T (p.Leu2727=) c.6382C>T (p.Leu2128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585442T>A | CA362694611 | DSP | c.6851T>A (p.Leu2284Gln) c.8180T>A (p.Leu2727Gln) c.6383T>A (p.Leu2128Gln) | |
| 6 | g.7585442T>C | CA362694612 | DSP | c.6851T>C (p.Leu2284Pro) c.8180T>C (p.Leu2727Pro) c.6383T>C (p.Leu2128Pro) | |
| 6 | g.7585442T>G | CA362694613 | DSP | c.6851T>G (p.Leu2284Arg) c.8180T>G (p.Leu2727Arg) c.6383T>G (p.Leu2128Arg) | |
| 6 | g.7585442T= | CA1608614499 | DSP | c.6851T= (p.Leu2284=) c.8180T= (p.Leu2727=) c.6383T= (p.Leu2128=) | |
| 6 | g.7585443G>A | CA448717207 | DSP | c.6852G>A (p.Leu2284=) c.8181G>A (p.Leu2727=) c.6384G>A (p.Leu2128=) | |
| 6 | g.7585443G>C | CA448717208 | DSP | c.6852G>C (p.Leu2284=) c.8181G>C (p.Leu2727=) c.6384G>C (p.Leu2128=) | |
| 6 | g.7585443G>T | CA448717209 | DSP | c.6852G>T (p.Leu2284=) c.8181G>T (p.Leu2727=) c.6384G>T (p.Leu2128=) | |
| 6 | g.7585444dup | CA303947 | DSP | c.6853dup (p.Glu2285GlyfsTer11) c.8182dup (p.Glu2728GlyfsTer11) c.6385dup (p.Glu2129GlyfsTer11) | ClinVar dbSNP |
| 6 | g.7585444del | CA2695206018 | DSP | c.6853del (p.Glu2285SerfsTer18) c.8182del (p.Glu2728SerfsTer18) c.6385del (p.Glu2129SerfsTer18) | |
| 6 | g.7585444G>A | CA362694614 | DSP | c.6853G>A (p.Glu2285Lys) c.8182G>A (p.Glu2728Lys) c.6385G>A (p.Glu2129Lys) | |
| 6 | g.7585444G>C | CA362694615 | DSP | c.6853G>C (p.Glu2285Gln) c.8182G>C (p.Glu2728Gln) c.6385G>C (p.Glu2129Gln) | gnomAD v4 |
| 6 | g.7585444G= | CA1608614508 | DSP | c.6853G= (p.Glu2285=) c.8182G= (p.Glu2728=) c.6385G= (p.Glu2129=) | |
| 6 | g.7585444G>T | CA362694616 | DSP | c.6853G>T (p.Glu2285Ter) c.8182G>T (p.Glu2728Ter) c.6385G>T (p.Glu2129Ter) | |
| 6 | g.7585445A>C | CA362694619 | DSP | c.6854A>C (p.Glu2285Ala) c.8183A>C (p.Glu2728Ala) c.6386A>C (p.Glu2129Ala) | ClinVar |
| 6 | g.7585445A>G | CA362694618 | DSP | c.6854A>G (p.Glu2285Gly) c.8183A>G (p.Glu2728Gly) c.6386A>G (p.Glu2129Gly) | |
| 6 | g.7585445A>T | CA362694617 | DSP | c.6854A>T (p.Glu2285Val) c.8183A>T (p.Glu2728Val) c.6386A>T (p.Glu2129Val) | gnomAD v4 |
| 6 | g.7585445dup | CA828146334 | DSP | c.6854dup (p.Phe2286ValfsTer10) c.8183dup (p.Phe2729ValfsTer10) c.6386dup (p.Phe2130ValfsTer10) | dbSNP |
| 6 | g.7585446G>A | CA448717211 | DSP | c.6855G>A (p.Glu2285=) c.8184G>A (p.Glu2728=) c.6387G>A (p.Glu2129=) | |
| 6 | g.7585446G>C | CA362694620 | DSP | c.6855G>C (p.Glu2285Asp) c.8184G>C (p.Glu2728Asp) c.6387G>C (p.Glu2129Asp) | |
| 6 | g.7585446G>T | CA362694621 | DSP | c.6855G>T (p.Glu2285Asp) c.8184G>T (p.Glu2728Asp) c.6387G>T (p.Glu2129Asp) | |
| 6 | g.7585447T>A | CA362694622 | DSP | c.6856T>A (p.Phe2286Ile) c.8185T>A (p.Phe2729Ile) c.6388T>A (p.Phe2130Ile) | |
| 6 | g.7585447T>C | CA362694623 | DSP | c.6856T>C (p.Phe2286Leu) c.8185T>C (p.Phe2729Leu) c.6388T>C (p.Phe2130Leu) | |
| 6 | g.7585447T>G | CA362694624 | DSP | c.6856T>G (p.Phe2286Val) c.8185T>G (p.Phe2729Val) c.6388T>G (p.Phe2130Val) | |
| 6 | g.7585448T>A | CA362694625 | DSP | c.6857T>A (p.Phe2286Tyr) c.8186T>A (p.Phe2729Tyr) c.6389T>A (p.Phe2130Tyr) | |
| 6 | g.7585448T>C | CA362694626 | DSP | c.6857T>C (p.Phe2286Ser) c.8186T>C (p.Phe2729Ser) c.6389T>C (p.Phe2130Ser) | |
| 6 | g.7585448T>G | CA362694627 | DSP | c.6857T>G (p.Phe2286Cys) c.8186T>G (p.Phe2729Cys) c.6389T>G (p.Phe2130Cys) | |
| 6 | g.7585448_7585449delinsTC | CA1608614514 | DSP | c.6857_6858delinsTC (p.Phe2286=) c.8186_8187delinsTC (p.Phe2729=) c.6389_6390delinsTC (p.Phe2130=) | |
| 6 | g.7585449C>A | CA362694628 | DSP | c.6858C>A (p.Phe2286Leu) c.8187C>A (p.Phe2729Leu) c.6390C>A (p.Phe2130Leu) | |
| 6 | g.7585449C= | CA1608614518 | DSP | c.6858C= (p.Phe2286=) c.8187C= (p.Phe2729=) c.6390C= (p.Phe2130=) | |
| 6 | g.7585449C>G | CA362694629 | DSP | c.6858C>G (p.Phe2286Leu) c.8187C>G (p.Phe2729Leu) c.6390C>G (p.Phe2130Leu) | |
| 6 | g.7585449C>T | CA051711 | DSP | c.6858C>T (p.Phe2286=) c.8187C>T (p.Phe2729=) c.6390C>T (p.Phe2130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585450del | CA10587637 | DSP | c.6859del (p.Gln2287SerfsTer16) c.8188del (p.Gln2730SerfsTer16) c.6391del (p.Gln2131SerfsTer16) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585450C>A | CA362694630 | DSP | c.6859C>A (p.Gln2287Lys) c.8188C>A (p.Gln2730Lys) c.6391C>A (p.Gln2131Lys) | |
| 6 | g.7585450C>G | CA362694631 | DSP | c.6859C>G (p.Gln2287Glu) c.8188C>G (p.Gln2730Glu) c.6391C>G (p.Gln2131Glu) | |
| 6 | g.7585450C>T | CA362694632 | DSP | c.6859C>T (p.Gln2287Ter) c.8188C>T (p.Gln2730Ter) c.6391C>T (p.Gln2131Ter) | gnomAD v4 |
| 6 | g.7585451A>C | CA362694635 | DSP | c.6860A>C (p.Gln2287Pro) c.8189A>C (p.Gln2730Pro) c.6392A>C (p.Gln2131Pro) | gnomAD v4 |
| 6 | g.7585451A>G | CA362694633 | DSP | c.6860A>G (p.Gln2287Arg) c.8189A>G (p.Gln2730Arg) c.6392A>G (p.Gln2131Arg) | |
| 6 | g.7585451A>T | CA362694634 | DSP | c.6860A>T (p.Gln2287Leu) c.8189A>T (p.Gln2730Leu) c.6392A>T (p.Gln2131Leu) | |
| 6 | g.7585452G>A | CA448717220 | DSP | c.6861G>A (p.Gln2287=) c.8190G>A (p.Gln2730=) c.6393G>A (p.Gln2131=) | gnomAD v4 |
| 6 | g.7585452G>C | CA362694636 | DSP | c.6861G>C (p.Gln2287His) c.8190G>C (p.Gln2730His) c.6393G>C (p.Gln2131His) | |
| 6 | g.7585452G>T | CA362694637 | DSP | c.6861G>T (p.Gln2287His) c.8190G>T (p.Gln2730His) c.6393G>T (p.Gln2131His) | dbSNP |
| 6 | g.7585453T>A | CA362694638 | DSP | c.6862T>A (p.Tyr2288Asn) c.8191T>A (p.Tyr2731Asn) c.6394T>A (p.Tyr2132Asn) | |
| 6 | g.7585453T>C | CA007423 | DSP | c.6862T>C (p.Tyr2288His) c.8191T>C (p.Tyr2731His) c.6394T>C (p.Tyr2132His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585453T>G | CA362694639 | DSP | c.6862T>G (p.Tyr2288Asp) c.8191T>G (p.Tyr2731Asp) c.6394T>G (p.Tyr2132Asp) | |
| 6 | g.7585453T= | CA1608614519 | DSP | c.6862T= (p.Tyr2288=) c.8191T= (p.Tyr2731=) c.6394T= (p.Tyr2132=) | |
| 6 | g.7585454A>C | CA362694640 | DSP | c.6863A>C (p.Tyr2288Ser) c.8192A>C (p.Tyr2731Ser) c.6395A>C (p.Tyr2132Ser) | |
| 6 | g.7585454A>G | CA362694641 | DSP | c.6863A>G (p.Tyr2288Cys) c.8192A>G (p.Tyr2731Cys) c.6395A>G (p.Tyr2132Cys) | |
| 6 | g.7585454A>T | CA362694642 | DSP | c.6863A>T (p.Tyr2288Phe) c.8192A>T (p.Tyr2731Phe) c.6395A>T (p.Tyr2132Phe) | |
| 6 | g.7585455C>A | CA362694643 | DSP | c.6864C>A (p.Tyr2288Ter) c.8193C>A (p.Tyr2731Ter) c.6396C>A (p.Tyr2132Ter) | |
| 6 | g.7585455C>G | CA362694644 | DSP | c.6864C>G (p.Tyr2288Ter) c.8193C>G (p.Tyr2731Ter) c.6396C>G (p.Tyr2132Ter) | ClinVar dbSNP |
| 6 | g.7585455C>T | CA448717224 | DSP | c.6864C>T (p.Tyr2288=) c.8193C>T (p.Tyr2731=) c.6396C>T (p.Tyr2132=) | gnomAD v4 |
| 6 | g.7585456C>A | CA362694645 | DSP | c.6865C>A (p.Leu2289Ile) c.8194C>A (p.Leu2732Ile) c.6397C>A (p.Leu2133Ile) | |
| 6 | g.7585456C= | CA1608614521 | DSP | c.6865C= (p.Leu2289=) c.8194C= (p.Leu2732=) c.6397C= (p.Leu2133=) | |
| 6 | g.7585456C>G | CA362694646 | DSP | c.6865C>G (p.Leu2289Val) c.8194C>G (p.Leu2732Val) c.6397C>G (p.Leu2133Val) | |
| 6 | g.7585456C>T | CA16622022 | DSP | c.6865C>T (p.Leu2289Phe) c.8194C>T (p.Leu2732Phe) c.6397C>T (p.Leu2133Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585457_7585458dup | CA2695206019 | DSP | c.6866_6867dup (p.Thr2290SerfsTer14) c.8195_8196dup (p.Thr2733SerfsTer14) c.6398_6399dup (p.Thr2134SerfsTer14) | |
| 6 | g.7585457T>A | CA362694647 | DSP | c.6866T>A (p.Leu2289His) c.8195T>A (p.Leu2732His) c.6398T>A (p.Leu2133His) | |
| 6 | g.7585457T>C | CA362694649 | DSP | c.6866T>C (p.Leu2289Pro) c.8195T>C (p.Leu2732Pro) c.6398T>C (p.Leu2133Pro) | |
| 6 | g.7585457T>G | CA362694648 | DSP | c.6866T>G (p.Leu2289Arg) c.8195T>G (p.Leu2732Arg) c.6398T>G (p.Leu2133Arg) | ClinVar |
| 6 | g.7585458C>A | CA448717227 | DSP | c.6867C>A (p.Leu2289=) c.8196C>A (p.Leu2732=) c.6399C>A (p.Leu2133=) | |
| 6 | g.7585458C>G | CA448717228 | DSP | c.6867C>G (p.Leu2289=) c.8196C>G (p.Leu2732=) c.6399C>G (p.Leu2133=) | gnomAD v4 |
| 6 | g.7585458C>T | CA448717229 | DSP | c.6867C>T (p.Leu2289=) c.8196C>T (p.Leu2732=) c.6399C>T (p.Leu2133=) | gnomAD v4 |
| 6 | g.7585459A= | CA1608614523 | DSP | c.6868A= (p.Thr2290=) c.8197A= (p.Thr2733=) c.6400A= (p.Thr2134=) | |
| 6 | g.7585459A>C | CA362694650 | DSP | c.6868A>C (p.Thr2290Pro) c.8197A>C (p.Thr2733Pro) c.6400A>C (p.Thr2134Pro) | ClinVar |
| 6 | g.7585459A>G | CA362694651 | DSP | c.6868A>G (p.Thr2290Ala) c.8197A>G (p.Thr2733Ala) c.6400A>G (p.Thr2134Ala) | |
| 6 | g.7585459A>T | CA362694652 | DSP | c.6868A>T (p.Thr2290Ser) c.8197A>T (p.Thr2733Ser) c.6400A>T (p.Thr2134Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585460C>A | CA362694653 | DSP | c.6869C>A (p.Thr2290Lys) c.8198C>A (p.Thr2733Lys) c.6401C>A (p.Thr2134Lys) | |
| 6 | g.7585460C= | CA1608614528 | DSP | c.6869C= (p.Thr2290=) c.8198C= (p.Thr2733=) c.6401C= (p.Thr2134=) | |
| 6 | g.7585460C>G | CA362694654 | DSP | c.6869C>G (p.Thr2290Arg) c.8198C>G (p.Thr2733Arg) c.6401C>G (p.Thr2134Arg) | |
| 6 | g.7585460C>T | CA362694655 | DSP | c.6869C>T (p.Thr2290Met) c.8198C>T (p.Thr2733Met) c.6401C>T (p.Thr2134Met) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585461G>A | CA448717230 | DSP | c.6870G>A (p.Thr2290=) c.8199G>A (p.Thr2733=) c.6402G>A (p.Thr2134=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585461G>C | CA051736 | DSP | c.6870G>C (p.Thr2290=) c.8199G>C (p.Thr2733=) c.6402G>C (p.Thr2134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585461G= | CA1608614535 | DSP | c.6870G= (p.Thr2290=) c.8199G= (p.Thr2733=) c.6402G= (p.Thr2134=) | |
| 6 | g.7585461G>T | CA448717231 | DSP | c.6870G>T (p.Thr2290=) c.8199G>T (p.Thr2733=) c.6402G>T (p.Thr2134=) | ClinVar |
| 6 | g.7585462G>A | CA362694656 | DSP | c.6871G>A (p.Gly2291Arg) c.8200G>A (p.Gly2734Arg) c.6403G>A (p.Gly2135Arg) | gnomAD v4 |
| 6 | g.7585462G>C | CA362694657 | DSP | c.6871G>C (p.Gly2291Arg) c.8200G>C (p.Gly2734Arg) c.6403G>C (p.Gly2135Arg) | gnomAD v4 |
| 6 | g.7585462G>T | CA362694658 | DSP | c.6871G>T (p.Gly2291Ter) c.8200G>T (p.Gly2734Ter) c.6403G>T (p.Gly2135Ter) | |
| 6 | g.7585463G>A | CA362694659 | DSP | c.6872G>A (p.Gly2291Glu) c.8201G>A (p.Gly2734Glu) c.6404G>A (p.Gly2135Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585463G>C | CA362694660 | DSP | c.6872G>C (p.Gly2291Ala) c.8201G>C (p.Gly2734Ala) c.6404G>C (p.Gly2135Ala) | |
| 6 | g.7585463G= | CA1608614544 | DSP | c.6872G= (p.Gly2291=) c.8201G= (p.Gly2734=) c.6404G= (p.Gly2135=) | |
| 6 | g.7585463G>T | CA362694661 | DSP | c.6872G>T (p.Gly2291Val) c.8201G>T (p.Gly2734Val) c.6404G>T (p.Gly2135Val) | |
| 6 | g.7585464A>C | CA448717235 | DSP | c.6873A>C (p.Gly2291=) c.8202A>C (p.Gly2734=) c.6405A>C (p.Gly2135=) | |
| 6 | g.7585464A>G | CA448717237 | DSP | c.6873A>G (p.Gly2291=) c.8202A>G (p.Gly2734=) c.6405A>G (p.Gly2135=) | |
| 6 | g.7585464A>T | CA448717239 | DSP | c.6873A>T (p.Gly2291=) c.8202A>T (p.Gly2734=) c.6405A>T (p.Gly2135=) | |
| 6 | g.7585465G>A | CA362694664 | DSP | c.6874G>A (p.Gly2292Ser) c.8203G>A (p.Gly2735Ser) c.6406G>A (p.Gly2136Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585465G>C | CA362694662 | DSP | c.6874G>C (p.Gly2292Arg) c.8203G>C (p.Gly2735Arg) c.6406G>C (p.Gly2136Arg) | |
| 6 | g.7585465G= | CA1608614548 | DSP | c.6874G= (p.Gly2292=) c.8203G= (p.Gly2735=) c.6406G= (p.Gly2136=) | |
| 6 | g.7585465G>T | CA362694663 | DSP | c.6874G>T (p.Gly2292Cys) c.8203G>T (p.Gly2735Cys) c.6406G>T (p.Gly2136Cys) | |
| 6 | g.7585466G>A | CA362694665 | DSP | c.6875G>A (p.Gly2292Asp) c.8204G>A (p.Gly2735Asp) c.6407G>A (p.Gly2136Asp) | |
| 6 | g.7585466G>C | CA362694666 | DSP | c.6875G>C (p.Gly2292Ala) c.8204G>C (p.Gly2735Ala) c.6407G>C (p.Gly2136Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585466G= | CA1608614551 | DSP | c.6875G= (p.Gly2292=) c.8204G= (p.Gly2735=) c.6407G= (p.Gly2136=) | |
| 6 | g.7585466G>T | CA362694667 | DSP | c.6875G>T (p.Gly2292Val) c.8204G>T (p.Gly2735Val) c.6407G>T (p.Gly2136Val) | |
| 6 | g.7585467T>A | CA448717242 | DSP | c.6876T>A (p.Gly2292=) c.8205T>A (p.Gly2735=) c.6408T>A (p.Gly2136=) | |
| 6 | g.7585467T>C | CA448717243 | DSP | c.6876T>C (p.Gly2292=) c.8205T>C (p.Gly2735=) c.6408T>C (p.Gly2136=) | gnomAD v4 |
| 6 | g.7585467T>G | CA448717244 | DSP | c.6876T>G (p.Gly2292=) c.8205T>G (p.Gly2735=) c.6408T>G (p.Gly2136=) | |
| 6 | g.7585468C>A | CA362694668 | DSP | c.6877C>A (p.Leu2293Ile) c.8206C>A (p.Leu2736Ile) c.6409C>A (p.Leu2137Ile) | |
| 6 | g.7585468C= | CA1608614555 | DSP | c.6877C= (p.Leu2293=) c.8206C= (p.Leu2736=) c.6409C= (p.Leu2137=) | |
| 6 | g.7585468C>G | CA362694669 | DSP | c.6877C>G (p.Leu2293Val) c.8206C>G (p.Leu2736Val) c.6409C>G (p.Leu2137Val) | |
| 6 | g.7585468C>T | CA362694670 | DSP | c.6877C>T (p.Leu2293Phe) c.8206C>T (p.Leu2736Phe) c.6409C>T (p.Leu2137Phe) | |
| 6 | g.7585469T>A | CA362694671 | DSP | c.6878T>A (p.Leu2293His) c.8207T>A (p.Leu2736His) c.6410T>A (p.Leu2137His) | ClinVar dbSNP |
| 6 | g.7585469T>C | CA362694672 | DSP | c.6878T>C (p.Leu2293Pro) c.8207T>C (p.Leu2736Pro) c.6410T>C (p.Leu2137Pro) | |
| 6 | g.7585469T>G | CA362694673 | DSP | c.6878T>G (p.Leu2293Arg) c.8207T>G (p.Leu2736Arg) c.6410T>G (p.Leu2137Arg) | |
| 6 | g.7585469T= | CA1608614559 | DSP | c.6878T= (p.Leu2293=) c.8207T= (p.Leu2736=) c.6410T= (p.Leu2137=) | |
| 6 | g.7585470dup | CA915944154 | DSP | c.6879dup (p.Val2294CysfsTer2) c.8208dup (p.Val2737CysfsTer2) c.6411dup (p.Val2138CysfsTer2) | ClinVar dbSNP |
| 6 | g.7585470T>A | CA448717246 | DSP | c.6879T>A (p.Leu2293=) c.8208T>A (p.Leu2736=) c.6411T>A (p.Leu2137=) | |
| 6 | g.7585470T>C | CA448717247 | DSP | c.6879T>C (p.Leu2293=) c.8208T>C (p.Leu2736=) c.6411T>C (p.Leu2137=) | |
| 6 | g.7585470T>G | CA448717248 | DSP | c.6879T>G (p.Leu2293=) c.8208T>G (p.Leu2736=) c.6411T>G (p.Leu2137=) | |
| 6 | g.7585471G>A | CA362694674 | DSP | c.6880G>A (p.Val2294Ile) c.8209G>A (p.Val2737Ile) c.6412G>A (p.Val2138Ile) | |
| 6 | g.7585471G>C | CA051765 | DSP | c.6880G>C (p.Val2294Leu) c.8209G>C (p.Val2737Leu) c.6412G>C (p.Val2138Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585471G= | CA1608614566 | DSP | c.6880G= (p.Val2294=) c.8209G= (p.Val2737=) c.6412G= (p.Val2138=) | |
| 6 | g.7585471G>T | CA362694675 | DSP | c.6880G>T (p.Val2294Phe) c.8209G>T (p.Val2737Phe) c.6412G>T (p.Val2138Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585472T>A | CA362694676 | DSP | c.6881T>A (p.Val2294Asp) c.8210T>A (p.Val2737Asp) c.6413T>A (p.Val2138Asp) | |
| 6 | g.7585472T>C | CA007431 | DSP | c.6881T>C (p.Val2294Ala) c.8210T>C (p.Val2737Ala) c.6413T>C (p.Val2138Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585472T>G | CA362694677 | DSP | c.6881T>G (p.Val2294Gly) c.8210T>G (p.Val2737Gly) c.6413T>G (p.Val2138Gly) | |
| 6 | g.7585472T= | CA1608614573 | DSP | c.6881T= (p.Val2294=) c.8210T= (p.Val2737=) c.6413T= (p.Val2138=) | |
| 6 | g.7585473T>A | CA448717252 | DSP | c.6882T>A (p.Val2294=) c.8211T>A (p.Val2737=) c.6414T>A (p.Val2138=) | |
| 6 | g.7585473T>C | CA448717253 | DSP | c.6882T>C (p.Val2294=) c.8211T>C (p.Val2737=) c.6414T>C (p.Val2138=) | |
| 6 | g.7585473T>G | CA051774 | DSP | c.6882T>G (p.Val2294=) c.8211T>G (p.Val2737=) c.6414T>G (p.Val2138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585473T= | CA1608614577 | DSP | c.6882T= (p.Val2294=) c.8211T= (p.Val2737=) c.6414T= (p.Val2138=) | |
| 6 | g.7585474G>A | CA362694680 | DSP | c.6883G>A (p.Asp2295Asn) c.8212G>A (p.Asp2738Asn) c.6415G>A (p.Asp2139Asn) | gnomAD v4 |
| 6 | g.7585474G>C | CA362694678 | DSP | c.6883G>C (p.Asp2295His) c.8212G>C (p.Asp2738His) c.6415G>C (p.Asp2139His) | |
| 6 | g.7585474G>T | CA362694679 | DSP | c.6883G>T (p.Asp2295Tyr) c.8212G>T (p.Asp2738Tyr) c.6415G>T (p.Asp2139Tyr) | |
| 6 | g.7585475A>C | CA362694681 | DSP | c.6884A>C (p.Asp2295Ala) c.8213A>C (p.Asp2738Ala) c.6416A>C (p.Asp2139Ala) | |
| 6 | g.7585475A>G | CA362694682 | DSP | c.6884A>G (p.Asp2295Gly) c.8213A>G (p.Asp2738Gly) c.6416A>G (p.Asp2139Gly) | ClinVar dbSNP |
| 6 | g.7585475A>T | CA362694683 | DSP | c.6884A>T (p.Asp2295Val) c.8213A>T (p.Asp2738Val) c.6416A>T (p.Asp2139Val) | |
| 6 | g.7585476C>A | CA362694684 | DSP | c.6885C>A (p.Asp2295Glu) c.8214C>A (p.Asp2738Glu) c.6417C>A (p.Asp2139Glu) | |
| 6 | g.7585476C= | CA1608614580 | DSP | c.6885C= (p.Asp2295=) c.8214C= (p.Asp2738=) c.6417C= (p.Asp2139=) | |
| 6 | g.7585476C>G | CA362694685 | DSP | c.6885C>G (p.Asp2295Glu) c.8214C>G (p.Asp2738Glu) c.6417C>G (p.Asp2139Glu) | |
| 6 | g.7585476C>T | CA051785 | DSP | c.6885C>T (p.Asp2295=) c.8214C>T (p.Asp2738=) c.6417C>T (p.Asp2139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585477C>A | CA362694686 | DSP | c.6886C>A (p.Pro2296Thr) c.8215C>A (p.Pro2739Thr) c.6418C>A (p.Pro2140Thr) | |
| 6 | g.7585477C= | CA1608614584 | DSP | c.6886C= (p.Pro2296=) c.8215C= (p.Pro2739=) c.6418C= (p.Pro2140=) | |
| 6 | g.7585477C>G | CA362694687 | DSP | c.6886C>G (p.Pro2296Ala) c.8215C>G (p.Pro2739Ala) c.6418C>G (p.Pro2140Ala) | |
| 6 | g.7585477C>T | CA362694688 | DSP | c.6886C>T (p.Pro2296Ser) c.8215C>T (p.Pro2739Ser) c.6418C>T (p.Pro2140Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585478C>A | CA362694690 | DSP | c.6887C>A (p.Pro2296Gln) c.8216C>A (p.Pro2739Gln) c.6419C>A (p.Pro2140Gln) | |
| 6 | g.7585478C= | CA1608614590 | DSP | c.6887C= (p.Pro2296=) c.8216C= (p.Pro2739=) c.6419C= (p.Pro2140=) | |
| 6 | g.7585478C>G | CA362694689 | DSP | c.6887C>G (p.Pro2296Arg) c.8216C>G (p.Pro2739Arg) c.6419C>G (p.Pro2140Arg) | ClinVar dbSNP |
| 6 | g.7585478C>T | CA051795 | DSP | c.6887C>T (p.Pro2296Leu) c.8216C>T (p.Pro2739Leu) c.6419C>T (p.Pro2140Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585479G>A | CA051809 | DSP | c.6888G>A (p.Pro2296=) c.8217G>A (p.Pro2739=) c.6420G>A (p.Pro2140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585479G>C | CA448717263 | DSP | c.6888G>C (p.Pro2296=) c.8217G>C (p.Pro2739=) c.6420G>C (p.Pro2140=) | |
| 6 | g.7585479G= | CA1608614611 | DSP | c.6888G= (p.Pro2296=) c.8217G= (p.Pro2739=) c.6420G= (p.Pro2140=) | |
| 6 | g.7585479G>T | CA448717264 | DSP | c.6888G>T (p.Pro2296=) c.8217G>T (p.Pro2739=) c.6420G>T (p.Pro2140=) | |
| 6 | g.7585480G>A | CA362694691 | DSP | c.6889G>A (p.Glu2297Lys) c.8218G>A (p.Glu2740Lys) c.6421G>A (p.Glu2141Lys) | |
| 6 | g.7585480G>C | CA362694692 | DSP | c.6889G>C (p.Glu2297Gln) c.8218G>C (p.Glu2740Gln) c.6421G>C (p.Glu2141Gln) | ClinVar dbSNP |
| 6 | g.7585480G= | CA1608614614 | DSP | c.6889G= (p.Glu2297=) c.8218G= (p.Glu2740=) c.6421G= (p.Glu2141=) | |
| 6 | g.7585480G>T | CA362694693 | DSP | c.6889G>T (p.Glu2297Ter) c.8218G>T (p.Glu2740Ter) c.6421G>T (p.Glu2141Ter) | |
| 6 | g.7585481A>C | CA362694694 | DSP | c.6890A>C (p.Glu2297Ala) c.8219A>C (p.Glu2740Ala) c.6422A>C (p.Glu2141Ala) | |
| 6 | g.7585481A>G | CA362694695 | DSP | c.6890A>G (p.Glu2297Gly) c.8219A>G (p.Glu2740Gly) c.6422A>G (p.Glu2141Gly) | |
| 6 | g.7585481A>T | CA362694696 | DSP | c.6890A>T (p.Glu2297Val) c.8219A>T (p.Glu2740Val) c.6422A>T (p.Glu2141Val) | |
| 6 | g.7585482A>C | CA362694697 | DSP | c.6891A>C (p.Glu2297Asp) c.8220A>C (p.Glu2740Asp) c.6423A>C (p.Glu2141Asp) | |
| 6 | g.7585482A>G | CA448717271 | DSP | c.6891A>G (p.Glu2297=) c.8220A>G (p.Glu2740=) c.6423A>G (p.Glu2141=) | |
| 6 | g.7585482A>T | CA362694698 | DSP | c.6891A>T (p.Glu2297Asp) c.8220A>T (p.Glu2740Asp) c.6423A>T (p.Glu2141Asp) | |
| 6 | g.7585483G>A | CA051822 | DSP | c.6892G>A (p.Val2298Met) c.8221G>A (p.Val2741Met) c.6424G>A (p.Val2142Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585483G>C | CA362694699 | DSP | c.6892G>C (p.Val2298Leu) c.8221G>C (p.Val2741Leu) c.6424G>C (p.Val2142Leu) | |
| 6 | g.7585483G= | CA1608614623 | DSP | c.6892G= (p.Val2298=) c.8221G= (p.Val2741=) c.6424G= (p.Val2142=) | |
| 6 | g.7585483G>T | CA362694700 | DSP | c.6892G>T (p.Val2298Leu) c.8221G>T (p.Val2741Leu) c.6424G>T (p.Val2142Leu) | |
| 6 | g.7585484T>A | CA362694702 | DSP | c.6893T>A (p.Val2298Glu) c.8222T>A (p.Val2741Glu) c.6425T>A (p.Val2142Glu) | |
| 6 | g.7585484T>C | CA362694703 | DSP | c.6893T>C (p.Val2298Ala) c.8222T>C (p.Val2741Ala) c.6425T>C (p.Val2142Ala) | |
| 6 | g.7585484T>G | CA362694701 | DSP | c.6893T>G (p.Val2298Gly) c.8222T>G (p.Val2741Gly) c.6425T>G (p.Val2142Gly) | |
| 6 | g.7585485G>A | CA448716719 | DSP | c.6894G>A (p.Val2298=) c.8223G>A (p.Val2741=) c.6426G>A (p.Val2142=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585485G>C | CA448716721 | DSP | c.6894G>C (p.Val2298=) c.8223G>C (p.Val2741=) c.6426G>C (p.Val2142=) | |
| 6 | g.7585485G= | CA1608614629 | DSP | c.6894G= (p.Val2298=) c.8223G= (p.Val2741=) c.6426G= (p.Val2142=) | |
| 6 | g.7585485G>T | CA448716723 | DSP | c.6894G>T (p.Val2298=) c.8223G>T (p.Val2741=) c.6426G>T (p.Val2142=) | |
| 6 | g.7585486C>A | CA362694704 | DSP | c.6895C>A (p.His2299Asn) c.8224C>A (p.His2742Asn) c.6427C>A (p.His2143Asn) | |
| 6 | g.7585486C= | CA1608614633 | DSP | c.6895C= (p.His2299=) c.8224C= (p.His2742=) c.6427C= (p.His2143=) | |
| 6 | g.7585486C>G | CA362694705 | DSP | c.6895C>G (p.His2299Asp) c.8224C>G (p.His2742Asp) c.6427C>G (p.His2143Asp) | |
| 6 | g.7585486C>T | CA051836 | DSP | c.6895C>T (p.His2299Tyr) c.8224C>T (p.His2742Tyr) c.6427C>T (p.His2143Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585487A= | CA1608614637 | DSP | c.6896A= (p.His2299=) c.8225A= (p.His2742=) c.6428A= (p.His2143=) | |
| 6 | g.7585487A>C | CA362694706 | DSP | c.6896A>C (p.His2299Pro) c.8225A>C (p.His2742Pro) c.6428A>C (p.His2143Pro) | |
| 6 | g.7585487A>G | CA051845 | DSP | c.6896A>G (p.His2299Arg) c.8225A>G (p.His2742Arg) c.6428A>G (p.His2143Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585487A>T | CA362694707 | DSP | c.6896A>T (p.His2299Leu) c.8225A>T (p.His2742Leu) c.6428A>T (p.His2143Leu) | COSMIC |
| 6 | g.7585488T>A | CA362694708 | DSP | c.6897T>A (p.His2299Gln) c.8226T>A (p.His2742Gln) c.6429T>A (p.His2143Gln) | |
| 6 | g.7585488T>C | CA448716726 | DSP | c.6897T>C (p.His2299=) c.8226T>C (p.His2742=) c.6429T>C (p.His2143=) | |
| 6 | g.7585488T>G | CA362694709 | DSP | c.6897T>G (p.His2299Gln) c.8226T>G (p.His2742Gln) c.6429T>G (p.His2143Gln) | |
| 6 | g.7585489G>A | CA362694710 | DSP | c.6898G>A (p.Gly2300Arg) c.8227G>A (p.Gly2743Arg) c.6430G>A (p.Gly2144Arg) | ClinVar dbSNP |
| 6 | g.7585489G>C | CA362694711 | DSP | c.6898G>C (p.Gly2300Arg) c.8227G>C (p.Gly2743Arg) c.6430G>C (p.Gly2144Arg) | |
| 6 | g.7585489G= | CA1608614639 | DSP | c.6898G= (p.Gly2300=) c.8227G= (p.Gly2743=) c.6430G= (p.Gly2144=) | |
| 6 | g.7585489G>T | CA362694712 | DSP | c.6898G>T (p.Gly2300Trp) c.8227G>T (p.Gly2743Trp) c.6430G>T (p.Gly2144Trp) | |
| 6 | g.7585491del | CA2582341643 | DSP | c.6900del (p.Arg2301GlyfsTer2) c.8229del (p.Arg2744GlyfsTer2) c.6432del (p.Arg2145GlyfsTer2) | ClinVar |
| 6 | g.7585490G>A | CA362694713 | DSP | c.6899G>A (p.Gly2300Glu) c.8228G>A (p.Gly2743Glu) c.6431G>A (p.Gly2144Glu) | gnomAD v4 |
| 6 | g.7585490G>C | CA362694714 | DSP | c.6899G>C (p.Gly2300Ala) c.8228G>C (p.Gly2743Ala) c.6431G>C (p.Gly2144Ala) | |
| 6 | g.7585490G>T | CA362694715 | DSP | c.6899G>T (p.Gly2300Val) c.8228G>T (p.Gly2743Val) c.6431G>T (p.Gly2144Val) | |
| 6 | g.7585491G>A | CA16612206 | DSP | c.6900G>A (p.Gly2300=) c.8229G>A (p.Gly2743=) c.6432G>A (p.Gly2144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585491G>C | CA448716732 | DSP | c.6900G>C (p.Gly2300=) c.8229G>C (p.Gly2743=) c.6432G>C (p.Gly2144=) | dbSNP |
| 6 | g.7585491G= | CA1608614643 | DSP | c.6900G= (p.Gly2300=) c.8229G= (p.Gly2743=) c.6432G= (p.Gly2144=) | |
| 6 | g.7585491G>T | CA448716733 | DSP | c.6900G>T (p.Gly2300=) c.8229G>T (p.Gly2743=) c.6432G>T (p.Gly2144=) | |
| 6 | g.7585492A= | CA1608614648 | DSP | c.6901A= (p.Arg2301=) c.8230A= (p.Arg2744=) c.6433A= (p.Arg2145=) | |
| 6 | g.7585492A>C | CA448716734 | DSP | c.6901A>C (p.Arg2301=) c.8230A>C (p.Arg2744=) c.6433A>C (p.Arg2145=) | |
| 6 | g.7585492A>G | CA362694716 | DSP | c.6901A>G (p.Arg2301Gly) c.8230A>G (p.Arg2744Gly) c.6433A>G (p.Arg2145Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585492A>T | CA362694717 | DSP | c.6901A>T (p.Arg2301Trp) c.8230A>T (p.Arg2744Trp) c.6433A>T (p.Arg2145Trp) | COSMIC |
| 6 | g.7585493G>A | CA362694718 | DSP | c.6902G>A (p.Arg2301Lys) c.8231G>A (p.Arg2744Lys) c.6434G>A (p.Arg2145Lys) | dbSNP |
| 6 | g.7585493G>C | CA362694719 | DSP | c.6902G>C (p.Arg2301Thr) c.8231G>C (p.Arg2744Thr) c.6434G>C (p.Arg2145Thr) | |
| 6 | g.7585493G= | CA1608614650 | DSP | c.6902G= (p.Arg2301=) c.8231G= (p.Arg2744=) c.6434G= (p.Arg2145=) | |
| 6 | g.7585493G>T | CA362694720 | DSP | c.6902G>T (p.Arg2301Met) c.8231G>T (p.Arg2744Met) c.6434G>T (p.Arg2145Met) | |
| 6 | g.7585494G>A | CA051885 | DSP | c.6903G>A (p.Arg2301=) c.8232G>A (p.Arg2744=) c.6435G>A (p.Arg2145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585494G>C | CA362694721 | DSP | c.6903G>C (p.Arg2301Ser) c.8232G>C (p.Arg2744Ser) c.6435G>C (p.Arg2145Ser) | |
| 6 | g.7585494G= | CA1608614654 | DSP | c.6903G= (p.Arg2301=) c.8232G= (p.Arg2744=) c.6435G= (p.Arg2145=) | |
| 6 | g.7585494G>T | CA362694722 | DSP | c.6903G>T (p.Arg2301Ser) c.8232G>T (p.Arg2744Ser) c.6435G>T (p.Arg2145Ser) | gnomAD v4 |
| 6 | g.7585495A= | CA1608614660 | DSP | c.6904A= (p.Ile2302=) c.8233A= (p.Ile2745=) c.6436A= (p.Ile2146=) | |
| 6 | g.7585495A>C | CA362694723 | DSP | c.6904A>C (p.Ile2302Leu) c.8233A>C (p.Ile2745Leu) c.6436A>C (p.Ile2146Leu) | |
| 6 | g.7585495A>G | CA051894 | DSP | c.6904A>G (p.Ile2302Val) c.8233A>G (p.Ile2745Val) c.6436A>G (p.Ile2146Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585495A>T | CA362694724 | DSP | c.6904A>T (p.Ile2302Leu) c.8233A>T (p.Ile2745Leu) c.6436A>T (p.Ile2146Leu) | |
| 6 | g.7585496T>A | CA362694725 | DSP | c.6905T>A (p.Ile2302Lys) c.8234T>A (p.Ile2745Lys) c.6437T>A (p.Ile2146Lys) | |
| 6 | g.7585496T>C | CA362694726 | DSP | c.6905T>C (p.Ile2302Thr) c.8234T>C (p.Ile2745Thr) c.6437T>C (p.Ile2146Thr) | |
| 6 | g.7585496T>G | CA362694727 | DSP | c.6905T>G (p.Ile2302Arg) c.8234T>G (p.Ile2745Arg) c.6437T>G (p.Ile2146Arg) | |
| 6 | g.7585497A= | CA1608614667 | DSP | c.6906A= (p.Ile2302=) c.8235A= (p.Ile2745=) c.6438A= (p.Ile2146=) | |
| 6 | g.7585497A>C | CA448716742 | DSP | c.6906A>C (p.Ile2302=) c.8235A>C (p.Ile2745=) c.6438A>C (p.Ile2146=) | |
| 6 | g.7585497A>G | CA051907 | DSP | c.6906A>G (p.Ile2302Met) c.8235A>G (p.Ile2745Met) c.6438A>G (p.Ile2146Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585497A>T | CA448716740 | DSP | c.6906A>T (p.Ile2302=) c.8235A>T (p.Ile2745=) c.6438A>T (p.Ile2146=) | gnomAD v4 |
| 6 | g.7585498A= | CA1608614672 | DSP | c.6907A= (p.Ser2303=) c.8236A= (p.Ser2746=) c.6439A= (p.Ser2147=) | |
| 6 | g.7585498A>C | CA362694729 | DSP | c.6907A>C (p.Ser2303Arg) c.8236A>C (p.Ser2746Arg) c.6439A>C (p.Ser2147Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585498A>G | CA362694730 | DSP | c.6907A>G (p.Ser2303Gly) c.8236A>G (p.Ser2746Gly) c.6439A>G (p.Ser2147Gly) | |
| 6 | g.7585498A>T | CA362694728 | DSP | c.6907A>T (p.Ser2303Cys) c.8236A>T (p.Ser2746Cys) c.6439A>T (p.Ser2147Cys) | gnomAD v4 |
| 6 | g.7585499G>A | CA362694731 | DSP | c.6908G>A (p.Ser2303Asn) c.8237G>A (p.Ser2746Asn) c.6440G>A (p.Ser2147Asn) | |
| 6 | g.7585499G>C | CA362694733 | DSP | c.6908G>C (p.Ser2303Thr) c.8237G>C (p.Ser2746Thr) c.6440G>C (p.Ser2147Thr) | gnomAD v4 |
| 6 | g.7585499G>T | CA362694732 | DSP | c.6908G>T (p.Ser2303Ile) c.8237G>T (p.Ser2746Ile) c.6440G>T (p.Ser2147Ile) | |
| 6 | g.7585500C>A | CA362694734 | DSP | c.6909C>A (p.Ser2303Arg) c.8238C>A (p.Ser2746Arg) c.6441C>A (p.Ser2147Arg) | |
| 6 | g.7585500C= | CA1608614680 | DSP | c.6909C= (p.Ser2303=) c.8238C= (p.Ser2746=) c.6441C= (p.Ser2147=) | |
| 6 | g.7585500C>G | CA051915 | DSP | c.6909C>G (p.Ser2303Arg) c.8238C>G (p.Ser2746Arg) c.6441C>G (p.Ser2147Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585500C>T | CA448716745 | DSP | c.6909C>T (p.Ser2303=) c.8238C>T (p.Ser2746=) c.6441C>T (p.Ser2147=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585501A>C | CA362694735 | DSP | c.6910A>C (p.Thr2304Pro) c.8239A>C (p.Thr2747Pro) c.6442A>C (p.Thr2148Pro) | |
| 6 | g.7585501A>G | CA362694737 | DSP | c.6910A>G (p.Thr2304Ala) c.8239A>G (p.Thr2747Ala) c.6442A>G (p.Thr2148Ala) | |
| 6 | g.7585501A>T | CA362694736 | DSP | c.6910A>T (p.Thr2304Ser) c.8239A>T (p.Thr2747Ser) c.6442A>T (p.Thr2148Ser) | |
| 6 | g.7585502C>A | CA362694738 | DSP | c.6911C>A (p.Thr2304Asn) c.8240C>A (p.Thr2747Asn) c.6443C>A (p.Thr2148Asn) | |
| 6 | g.7585502C= | CA1608614684 | DSP | c.6911C= (p.Thr2304=) c.8240C= (p.Thr2747=) c.6443C= (p.Thr2148=) | |
| 6 | g.7585502C>G | CA362694739 | DSP | c.6911C>G (p.Thr2304Ser) c.8240C>G (p.Thr2747Ser) c.6443C>G (p.Thr2148Ser) | |
| 6 | g.7585502C>T | CA362694740 | DSP | c.6911C>T (p.Thr2304Ile) c.8240C>T (p.Thr2747Ile) c.6443C>T (p.Thr2148Ile) | ClinVar dbSNP |
| 6 | g.7585503C>A | CA051921 | DSP | c.6912C>A (p.Thr2304=) c.8241C>A (p.Thr2747=) c.6444C>A (p.Thr2148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585503C= | CA1608614691 | DSP | c.6912C= (p.Thr2304=) c.8241C= (p.Thr2747=) c.6444C= (p.Thr2148=) | |
| 6 | g.7585503C>G | CA448716749 | DSP | c.6912C>G (p.Thr2304=) c.8241C>G (p.Thr2747=) c.6444C>G (p.Thr2148=) | ClinVar |
| 6 | g.7585503C>T | CA448716750 | DSP | c.6912C>T (p.Thr2304=) c.8241C>T (p.Thr2747=) c.6444C>T (p.Thr2148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585504G>A | CA362694741 | DSP | c.6913G>A (p.Glu2305Lys) c.8242G>A (p.Glu2748Lys) c.6445G>A (p.Glu2149Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585504G>C | CA362694742 | DSP | c.6913G>C (p.Glu2305Gln) c.8242G>C (p.Glu2748Gln) c.6445G>C (p.Glu2149Gln) | |
| 6 | g.7585504G= | CA1608614695 | DSP | c.6913G= (p.Glu2305=) c.8242G= (p.Glu2748=) c.6445G= (p.Glu2149=) | |
| 6 | g.7585504G>T | CA362694743 | DSP | c.6913G>T (p.Glu2305Ter) c.8242G>T (p.Glu2748Ter) c.6445G>T (p.Glu2149Ter) | |
| 6 | g.7585504_7585507dup | CA2769904076 | DSP | c.6913_6916dup (p.Glu2306GlyfsTer?) c.8242_8245dup (p.Glu2749GlyfsTer?) c.6445_6448dup (p.Glu2150GlyfsTer?) | |
| 6 | g.7585505A>C | CA362694746 | DSP | c.6914A>C (p.Glu2305Ala) c.8243A>C (p.Glu2748Ala) c.6446A>C (p.Glu2149Ala) | |
| 6 | g.7585505A>G | CA362694744 | DSP | c.6914A>G (p.Glu2305Gly) c.8243A>G (p.Glu2748Gly) c.6446A>G (p.Glu2149Gly) | |
| 6 | g.7585505A>T | CA362694745 | DSP | c.6914A>T (p.Glu2305Val) c.8243A>T (p.Glu2748Val) c.6446A>T (p.Glu2149Val) | |
| 6 | g.7585506A>C | CA362694747 | DSP | c.6915A>C (p.Glu2305Asp) c.8244A>C (p.Glu2748Asp) c.6447A>C (p.Glu2149Asp) | |
| 6 | g.7585506A>G | CA448716752 | DSP | c.6915A>G (p.Glu2305=) c.8244A>G (p.Glu2748=) c.6447A>G (p.Glu2149=) | |
| 6 | g.7585506A>T | CA362694748 | DSP | c.6915A>T (p.Glu2305Asp) c.8244A>T (p.Glu2748Asp) c.6447A>T (p.Glu2149Asp) | |
| 6 | g.7585507G>A | CA362694749 | DSP | c.6916G>A (p.Glu2306Lys) c.8245G>A (p.Glu2749Lys) c.6448G>A (p.Glu2150Lys) | COSMIC |
| 6 | g.7585507G>C | CA362694750 | DSP | c.6916G>C (p.Glu2306Gln) c.8245G>C (p.Glu2749Gln) c.6448G>C (p.Glu2150Gln) | |
| 6 | g.7585507G>T | CA362694751 | DSP | c.6916G>T (p.Glu2306Ter) c.8245G>T (p.Glu2749Ter) c.6448G>T (p.Glu2150Ter) | |
| 6 | g.7585508A= | CA1608614700 | DSP | c.6917A= (p.Glu2306=) c.8246A= (p.Glu2749=) c.6449A= (p.Glu2150=) | |
| 6 | g.7585508A>C | CA362694752 | DSP | c.6917A>C (p.Glu2306Ala) c.8246A>C (p.Glu2749Ala) c.6449A>C (p.Glu2150Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585508A>G | CA362694754 | DSP | c.6917A>G (p.Glu2306Gly) c.8246A>G (p.Glu2749Gly) c.6449A>G (p.Glu2150Gly) | |
| 6 | g.7585508A>T | CA362694753 | DSP | c.6917A>T (p.Glu2306Val) c.8246A>T (p.Glu2749Val) c.6449A>T (p.Glu2150Val) | |
| 6 | g.7585509A>C | CA362694755 | DSP | c.6918A>C (p.Glu2306Asp) c.8247A>C (p.Glu2749Asp) c.6450A>C (p.Glu2150Asp) | ClinVar |
| 6 | g.7585509A>G | CA448716754 | DSP | c.6918A>G (p.Glu2306=) c.8247A>G (p.Glu2749=) c.6450A>G (p.Glu2150=) | |
| 6 | g.7585509A>T | CA362694756 | DSP | c.6918A>T (p.Glu2306Asp) c.8247A>T (p.Glu2749Asp) c.6450A>T (p.Glu2150Asp) | |
| 6 | g.7585510G>A | CA362694757 | DSP | c.6919G>A (p.Ala2307Thr) c.8248G>A (p.Ala2750Thr) c.6451G>A (p.Ala2151Thr) | gnomAD v4 |
| 6 | g.7585510G>C | CA362694758 | DSP | c.6919G>C (p.Ala2307Pro) c.8248G>C (p.Ala2750Pro) c.6451G>C (p.Ala2151Pro) | |
| 6 | g.7585510G>T | CA362694759 | DSP | c.6919G>T (p.Ala2307Ser) c.8248G>T (p.Ala2750Ser) c.6451G>T (p.Ala2151Ser) | |
| 6 | g.7585511C>A | CA362694760 | DSP | c.6920C>A (p.Ala2307Asp) c.8249C>A (p.Ala2750Asp) c.6452C>A (p.Ala2151Asp) | |
| 6 | g.7585511C>G | CA362694761 | DSP | c.6920C>G (p.Ala2307Gly) c.8249C>G (p.Ala2750Gly) c.6452C>G (p.Ala2151Gly) | ClinVar |
| 6 | g.7585511C>T | CA362694762 | DSP | c.6920C>T (p.Ala2307Val) c.8249C>T (p.Ala2750Val) c.6452C>T (p.Ala2151Val) | ClinVar COSMIC |
| 6 | g.7585512C>A | CA448716758 | DSP | c.6921C>A (p.Ala2307=) c.8250C>A (p.Ala2750=) c.6453C>A (p.Ala2151=) | |
| 6 | g.7585512C>G | CA448716760 | DSP | c.6921C>G (p.Ala2307=) c.8250C>G (p.Ala2750=) c.6453C>G (p.Ala2151=) | |
| 6 | g.7585512C>T | CA448716761 | DSP | c.6921C>T (p.Ala2307=) c.8250C>T (p.Ala2750=) c.6453C>T (p.Ala2151=) | |
| 6 | g.7585513A>C | CA362694763 | DSP | c.6922A>C (p.Ile2308Leu) c.8251A>C (p.Ile2751Leu) c.6454A>C (p.Ile2152Leu) | |
| 6 | g.7585513A>G | CA362694764 | DSP | c.6922A>G (p.Ile2308Val) c.8251A>G (p.Ile2751Val) c.6454A>G (p.Ile2152Val) | |
| 6 | g.7585513A>T | CA362694765 | DSP | c.6922A>T (p.Ile2308Phe) c.8251A>T (p.Ile2751Phe) c.6454A>T (p.Ile2152Phe) | gnomAD v4 |
| 6 | g.7585514T>A | CA362694766 | DSP | c.6923T>A (p.Ile2308Asn) c.8252T>A (p.Ile2751Asn) c.6455T>A (p.Ile2152Asn) | |
| 6 | g.7585514T>C | CA362694767 | DSP | c.6923T>C (p.Ile2308Thr) c.8252T>C (p.Ile2751Thr) c.6455T>C (p.Ile2152Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585514T>G | CA133977561 | DSP | c.6923T>G (p.Ile2308Ser) c.8252T>G (p.Ile2751Ser) c.6455T>G (p.Ile2152Ser) | ClinVar dbSNP |
| 6 | g.7585514T= | CA1608614707 | DSP | c.6923T= (p.Ile2308=) c.8252T= (p.Ile2751=) c.6455T= (p.Ile2152=) | |
| 6 | g.7585515C>A | CA448716769 | DSP | c.6924C>A (p.Ile2308=) c.8253C>A (p.Ile2751=) c.6456C>A (p.Ile2152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585515C= | CA1608614713 | DSP | c.6924C= (p.Ile2308=) c.8253C= (p.Ile2751=) c.6456C= (p.Ile2152=) | |
| 6 | g.7585515C>G | CA362694768 | DSP | c.6924C>G (p.Ile2308Met) c.8253C>G (p.Ile2751Met) c.6456C>G (p.Ile2152Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585515C>T | CA448716770 | DSP | c.6924C>T (p.Ile2308=) c.8253C>T (p.Ile2751=) c.6456C>T (p.Ile2152=) | |
| 6 | g.7585516C>A | CA448716773 | DSP | c.6925C>A (p.Arg2309=) c.8254C>A (p.Arg2752=) c.6457C>A (p.Arg2153=) | |
| 6 | g.7585516C= | CA1608614718 | DSP | c.6925C= (p.Arg2309=) c.8254C= (p.Arg2752=) c.6457C= (p.Arg2153=) | |
| 6 | g.7585516C>G | CA362694769 | DSP | c.6925C>G (p.Arg2309Gly) c.8254C>G (p.Arg2752Gly) c.6457C>G (p.Arg2153Gly) | gnomAD v4 |
| 6 | g.7585516C>T | CA362694770 | DSP | c.6925C>T (p.Arg2309Trp) c.8254C>T (p.Arg2752Trp) c.6457C>T (p.Arg2153Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |