Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80107668_80107693delinsGCTCAGCACCAGCTGGACCAGGATCA | CA2277812302 | GAA | c.804_829delinsGCTCAGCACCAGCTGGACCAGGATCA (p.Met268=) | |
17 | g.80107670_80107694del | CA915952247 | GAA | c.806_830del (p.Leu269ProfsTer?) | ClinVar dbSNP |
17 | g.80107691_80107709del | CA658795238 | GAA | c.827_845del (p.Ile276ThrfsTer?) | ClinVar dbSNP |
17 | g.80107689G>A | CA502402702 | GAA | c.825G>A (p.Arg275=) | |
17 | g.80107689G>C | CA401363591 | GAA | c.825G>C (p.Arg275Ser) | |
17 | g.80107689G>T | CA401363594 | GAA | c.825G>T (p.Arg275Ser) | |
17 | g.80107689_80107690del | CA2576413979 | GAA | c.825_826del (p.Arg275SerfsTer?) | |
17 | g.80107690A= | CA2277812312 | GAA | c.826A= (p.Ile276=) | |
17 | g.80107690A>C | CA401363596 | GAA | c.826A>C (p.Ile276Leu) | |
17 | g.80107690A>G | CA401363598 | GAA | c.826A>G (p.Ile276Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80107690A>T | CA401363599 | GAA | c.826A>T (p.Ile276Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107691T>A | CA401363601 | GAA | c.827T>A (p.Ile276Asn) | |
17 | g.80107691T>C | CA401363603 | GAA | c.827T>C (p.Ile276Thr) | |
17 | g.80107691T>G | CA401363605 | GAA | c.827T>G (p.Ile276Ser) | |
17 | g.80107692C>A | CA502402703 | GAA | c.828C>A (p.Ile276=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107692C= | CA2277812313 | GAA | c.828C= (p.Ile276=) | |
17 | g.80107692C>G | CA401363607 | GAA | c.828C>G (p.Ile276Met) | |
17 | g.80107692C>T | CA502402704 | GAA | c.828C>T (p.Ile276=) | |
17 | g.80107693_80107694del | CA2580095271 | GAA | c.829_830del (p.Thr277ProfsTer?) | ClinVar |
17 | g.80107693_80107715del | CA658795239 | GAA | c.829_851del (p.Thr277AlafsTer?) | |
17 | g.80107693del | CA2576413980 | GAA | c.829del (p.Thr277ProfsTer?) | |
17 | g.80107693A= | CA2277812314 | GAA | c.829A= (p.Thr277=) | |
17 | g.80107693A>C | CA401363609 | GAA | c.829A>C (p.Thr277Pro) | dbSNP |
17 | g.80107693A>G | CA401363611 | GAA | c.829A>G (p.Thr277Ala) | ClinVar |
17 | g.80107693A>T | CA401363613 | GAA | c.829A>T (p.Thr277Ser) | |
17 | g.80107694C>A | CA401363619 | GAA | c.830C>A (p.Thr277Asn) | |
17 | g.80107694C= | CA2277812315 | GAA | c.830C= (p.Thr277=) | |
17 | g.80107694C>G | CA401363617 | GAA | c.830C>G (p.Thr277Ser) | |
17 | g.80107694C>T | CA401363615 | GAA | c.830C>T (p.Thr277Ile) | ClinVar dbSNP |
17 | g.80107696del | CA2695227071 | GAA | c.832del (p.Leu278CysfsTer?) | |
17 | g.80107695C>A | CA502402705 | GAA | c.831C>A (p.Thr277=) | |
17 | g.80107695C= | CA2277812316 | GAA | c.831C= (p.Thr277=) | |
17 | g.80107695C>G | CA294889703 | GAA | c.831C>G (p.Thr277=) | dbSNP |
17 | g.80107695C>T | CA502402706 | GAA | c.831C>T (p.Thr277=) | |
17 | g.80107696C>A | CA401363621 | GAA | c.832C>A (p.Leu278Met) | |
17 | g.80107696C= | CA2277812317 | GAA | c.832C= (p.Leu278=) | |
17 | g.80107696C>G | CA401363622 | GAA | c.832C>G (p.Leu278Val) | |
17 | g.80107696C>T | CA502402707 | GAA | c.832C>T (p.Leu278=) | dbSNP |
17 | g.80107696_80107697del | CA913184772 | GAA | c.832_833del (p.Leu278ValfsTer?) | |
17 | g.80107697T>A | CA401363625 | GAA | c.833T>A (p.Leu278Gln) | |
17 | g.80107697T>C | CA401363626 | GAA | c.833T>C (p.Leu278Pro) | |
17 | g.80107697T>G | CA401363628 | GAA | c.833T>G (p.Leu278Arg) | |
17 | g.80107698G>A | CA8815023 | GAA | c.834G>A (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107698G>C | CA502402708 | GAA | c.834G>C (p.Leu278=) | |
17 | g.80107698G= | CA2277812318 | GAA | c.834G= (p.Leu278=) | |
17 | g.80107698G>T | CA502402709 | GAA | c.834G>T (p.Leu278=) | |
17 | g.80107699T>A | CA401363631 | GAA | c.835T>A (p.Trp279Arg) | |
17 | g.80107699T>C | CA401363632 | GAA | c.835T>C (p.Trp279Arg) | |
17 | g.80107699T>G | CA401363635 | GAA | c.835T>G (p.Trp279Gly) | |
17 | g.80107700G>A | CA401363637 | GAA | c.836G>A (p.Trp279Ter) | ClinVar dbSNP |
17 | g.80107700G>C | CA401363638 | GAA | c.836G>C (p.Trp279Ser) | |
17 | g.80107700G= | CA2277812319 | GAA | c.836G= (p.Trp279=) | |
17 | g.80107700G>T | CA401363640 | GAA | c.836G>T (p.Trp279Leu) | |
17 | g.80107701G>A | CA401363645 | GAA | c.837G>A (p.Trp279Ter) | |
17 | g.80107701G>C | CA401363644 | GAA | c.837G>C (p.Trp279Cys) | dbSNP gnomAD v2 |
17 | g.80107701G= | CA2277812320 | GAA | c.837G= (p.Trp279=) | |
17 | g.80107701G>T | CA401363642 | GAA | c.837G>T (p.Trp279Cys) | ClinVar |
17 | g.80107702A>C | CA401363649 | GAA | c.838A>C (p.Asn280His) | |
17 | g.80107702A>G | CA401363647 | GAA | c.838A>G (p.Asn280Asp) | |
17 | g.80107702A>T | CA401363651 | GAA | c.838A>T (p.Asn280Tyr) | |
17 | g.80107703A= | CA2277812321 | GAA | c.839A= (p.Asn280=) | |
17 | g.80107703A>C | CA401363653 | GAA | c.839A>C (p.Asn280Thr) | |
17 | g.80107703A>G | CA401363655 | GAA | c.839A>G (p.Asn280Ser) | |
17 | g.80107703A>T | CA401363657 | GAA | c.839A>T (p.Asn280Ile) | |
17 | g.80107704C>A | CA401363659 | GAA | c.840C>A (p.Asn280Lys) | |
17 | g.80107704C= | CA2277812322 | GAA | c.840C= (p.Asn280=) | |
17 | g.80107704C>G | CA8815024 | GAA | c.840C>G (p.Asn280Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107704C>T | CA502402710 | GAA | c.840C>T (p.Asn280=) | |
17 | g.80107704_80107706dup | CA658683065 | GAA | c.840_842dup (p.Arg281_Asp282insArg) | ClinVar dbSNP |
17 | g.80107705C>A | CA502402711 | GAA | c.841C>A (p.Arg281=) | ClinVar |
17 | g.80107705C= | CA2277812323 | GAA | c.841C= (p.Arg281=) | |
17 | g.80107705C>G | CA401363661 | GAA | c.841C>G (p.Arg281Gly) | |
17 | g.80107705C>T | CA8815025 | GAA | c.841C>T (p.Arg281Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107706G>A | CA8815026 | GAA | c.842G>A (p.Arg281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107706G>C | CA401363665 | GAA | c.842G>C (p.Arg281Pro) | |
17 | g.80107706G= | CA2277812324 | GAA | c.842G= (p.Arg281=) | |
17 | g.80107706G>T | CA401363667 | GAA | c.842G>T (p.Arg281Leu) | |
17 | g.80107707G>A | CA502402712 | GAA | c.843G>A (p.Arg281=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107707G>C | CA502402713 | GAA | c.843G>C (p.Arg281=) | |
17 | g.80107707G= | CA2277812325 | GAA | c.843G= (p.Arg281=) | |
17 | g.80107707G>T | CA502402714 | GAA | c.843G>T (p.Arg281=) | gnomAD v4 |
17 | g.80107708G>A | CA401363673 | GAA | c.844G>A (p.Asp282Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107708G>C | CA401363671 | GAA | c.844G>C (p.Asp282His) | ClinVar |
17 | g.80107708G= | CA2277812326 | GAA | c.844G= (p.Asp282=) | |
17 | g.80107708G>T | CA401363669 | GAA | c.844G>T (p.Asp282Tyr) | gnomAD v4 |
17 | g.80107709A>C | CA401363674 | GAA | c.845A>C (p.Asp282Ala) | |
17 | g.80107709A>G | CA401363675 | GAA | c.845A>G (p.Asp282Gly) | |
17 | g.80107709A>T | CA401363678 | GAA | c.845A>T (p.Asp282Val) | |
17 | g.80107710C>A | CA401363680 | GAA | c.846C>A (p.Asp282Glu) | |
17 | g.80107710C= | CA2277812327 | GAA | c.846C= (p.Asp282=) | |
17 | g.80107710C>G | CA401363682 | GAA | c.846C>G (p.Asp282Glu) | |
17 | g.80107710C>T | CA294889707 | GAA | c.846C>T (p.Asp282=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107711C>A | CA401363684 | GAA | c.847C>A (p.Leu283Ile) | |
17 | g.80107711C>G | CA401363686 | GAA | c.847C>G (p.Leu283Val) | |
17 | g.80107711C>T | CA401363688 | GAA | c.847C>T (p.Leu283Phe) | gnomAD v4 |
17 | g.80107712T>A | CA401363689 | GAA | c.848T>A (p.Leu283His) | |
17 | g.80107712T>C | CA401363691 | GAA | c.848T>C (p.Leu283Pro) | |
17 | g.80107712T>G | CA401363693 | GAA | c.848T>G (p.Leu283Arg) | |
17 | g.80107713T>A | CA502402715 | GAA | c.849T>A (p.Leu283=) | |
17 | g.80107713T>C | CA502402716 | GAA | c.849T>C (p.Leu283=) | ClinVar dbSNP |
17 | g.80107713T>G | CA502402717 | GAA | c.849T>G (p.Leu283=) | |
17 | g.80107714G>A | CA8815027 | GAA | c.850G>A (p.Ala284Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107714G>C | CA401363697 | GAA | c.850G>C (p.Ala284Pro) | |
17 | g.80107714G= | CA2277812328 | GAA | c.850G= (p.Ala284=) | |
17 | g.80107714G>T | CA401363695 | GAA | c.850G>T (p.Ala284Ser) | |
17 | g.80107715C>A | CA401363699 | GAA | c.851C>A (p.Ala284Glu) | ClinVar |
17 | g.80107715C= | CA2277812329 | GAA | c.851C= (p.Ala284=) | |
17 | g.80107715C>G | CA8815028 | GAA | c.851C>G (p.Ala284Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107715C>T | CA8815029 | GAA | c.851C>T (p.Ala284Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107716G>A | CA198776 | GAA | c.852G>A (p.Ala284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107716G>C | CA502402718 | GAA | c.852G>C (p.Ala284=) | |
17 | g.80107716G= | CA2277812330 | GAA | c.852G= (p.Ala284=) | |
17 | g.80107716G>T | CA294889733 | GAA | c.852G>T (p.Ala284=) | dbSNP gnomAD v4 |
17 | g.80107717C>A | CA401363703 | GAA | c.853C>A (p.Pro285Thr) c.853C>A | |
17 | g.80107717C= | CA2277812331 | GAA | c.853C= (p.Pro285=) c.853C= | |
17 | g.80107717C>G | CA401363705 | GAA | c.853C>G (p.Pro285Ala) c.853C>G | |
17 | g.80107717C>T | CA10603793 | GAA | c.853C>T (p.Pro285Ser) c.853C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107718C>A | CA401363708 | GAA | c.854C>A (p.Pro285His) c.854C>A | |
17 | g.80107718C= | CA2277812332 | GAA | c.854C= (p.Pro285=) c.854C= | |
17 | g.80107718C>G | CA358045 | GAA | c.854C>G (p.Pro285Arg) c.854C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107718C>T | CA8815030 | GAA | c.854C>T (p.Pro285Leu) c.854C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107719C>A | CA8815031 | GAA | c.855C>A (p.Pro285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107719C= | CA2277812333 | GAA | c.855C= (p.Pro285=) | |
17 | g.80107719C>G | CA502402719 | GAA | c.855C>G (p.Pro285=) | |
17 | g.80107719C>T | CA502402720 | GAA | c.855C>T (p.Pro285=) | gnomAD v4 |
17 | g.80107720del | CA2739268463 | GAA | c.856del (p.Thr286ArgfsTer28) | ClinVar |
17 | g.80107720A>C | CA401363717 | GAA | c.856A>C (p.Thr286Pro) | |
17 | g.80107720A>G | CA401363715 | GAA | c.856A>G (p.Thr286Ala) | |
17 | g.80107720A>T | CA401363713 | GAA | c.856A>T (p.Thr286Ser) | |
17 | g.80107721C>A | CA401363719 | GAA | c.857C>A (p.Thr286Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107721C= | CA2277812334 | GAA | c.857C= (p.Thr286=) | |
17 | g.80107721C>G | CA401363722 | GAA | c.857C>G (p.Thr286Arg) | |
17 | g.80107721C>T | CA8815032 | GAA | c.857C>T (p.Thr286Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>A | CA294889742 | GAA | c.858G>A (p.Thr286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>C | CA502402721 | GAA | c.858G>C (p.Thr286=) | |
17 | g.80107722G= | CA2277812335 | GAA | c.858G= (p.Thr286=) | |
17 | g.80107722G>T | CA502402722 | GAA | c.858G>T (p.Thr286=) | |
17 | g.80107723del | CA2640279897 | GAA | c.858+1del | gnomAD v4 |
17 | g.80107723G>A | CA401363726 | GAA | c.858+1G>A (n.858+1G>A) | ClinVar |
17 | g.80107723G>C | CA401363727 | GAA | c.858+1G>C (n.858+1G>C) | |
17 | g.80107723G= | CA2277812336 | GAA | c.858+1G= (n.858+1G=) | |
17 | g.80107723G>T | CA401363729 | GAA | c.858+1G>T (n.858+1G>T) | gnomAD v4 |
17 | g.80107723_80107724insAGCGGGC | CA294889744 | GAA | c.858+1_858+2insAGCGGGC (n.858+1_858+2insAGCGGGC) | dbSNP |
17 | g.80107724T>A | CA401363732 | GAA | c.858+2T>A (n.858+2T>A) | ClinVar dbSNP |
17 | g.80107724T>C | CA401363734 | GAA | c.858+2T>C (n.858+2T>C) | |
17 | g.80107724T>G | CA401363736 | GAA | c.858+2T>G (n.858+2T>G) | |
17 | g.80107724T= | CA2277812337 | GAA | c.858+2T= (n.858+2T=) | |
17 | g.80107725A= | CA2277812338 | GAA | c.858+3A= (n.858+3A=) | |
17 | g.80107725_80107726insGAG | CA8815033 | GAA | c.858+3_858+4insGAG (n.858+3_858+4insGAG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107726C= | CA2277812339 | GAA | c.858+4C= (n.858+4C=) | |
17 | g.80107726C>G | CA10604590 | GAA | c.858+4C>G (n.858+4C>G) | ClinVar dbSNP |
17 | g.80107727A= | CA2277812341 | GAA | c.858+5A= (n.858+5A=) | |
17 | g.80107727A>G | CA2277812342 | GAA | c.858+5A>G (n.858+5A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.80107729_80107730insAGCGAGC | CA2734096656 | GAA | c.858+7_858+8insAGCGAGC (n.858+7_858+8insAGCGAGC) | dbSNP |
17 | g.80107727_80107733delinsAGCGGCG | CA2277812340 | GAA | c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG) | |
17 | g.80107727_80107733dup | CA2277812344 | GAA | c.858+5_858+11dup (n.858+5_858+11dup) | ClinVar dbSNP |
17 | g.80107727_80107734delinsAGCGGCGG | CA2277812343 | GAA | c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG) | |
17 | g.80107727_80107728insACAGCGG | CA2640279962 | GAA | c.858+5_858+6insACAGCGG (n.858+5_858+6insACAGCGG) | gnomAD v4 |
17 | g.80107728G>A | CA658795240 | GAA | c.858+6G>A (n.858+6G>A) | |
17 | g.80107728G= | CA2277812345 | GAA | c.858+6G= (n.858+6G=) | |
17 | g.80107728G>T | CA8815039 | GAA | c.858+6G>T (n.858+6G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107728_80107729insGCAGCGG | CA294889789 | GAA | c.858+6_858+7insGCAGCGG (n.858+6_858+7insGCAGCGG) | dbSNP |
17 | g.80107728_80107729insTAGCGGG | CA2576413981 | GAA | c.858+6_858+7insTAGCGGG (n.858+6_858+7insTAGCGGG) | |
17 | g.80107729_80107730insAATGGGC | CA2640279941 | GAA | c.858+7_858+8insAATGGGC (n.858+7_858+8insAATGGGC) | gnomAD v4 |
17 | g.80107729_80107730insACCGGGC | CA2499225003 | GAA | c.858+7_858+8insACCGGGC (n.858+7_858+8insACCGGGC) | ClinVar dbSNP |
17 | g.80107729_80107730insAGCAGGC | CA8815037 | GAA | c.858+7_858+8insAGCAGGC (n.858+7_858+8insAGCAGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGC | CA145794 | GAA | c.858+7_858+8insAGCGGGC (n.858+7_858+8insAGCGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGTGGGC | CA8815036 | GAA | c.858+7_858+8insAGTGGGC (n.858+7_858+8insAGTGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCAGCGGGC | CA2580095280 | GAA | c.858+7_858+8insAGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCAGCGGGC) | ClinVar |
17 | g.80107729_80107730insAGCGGGCGGCGGGC | CA8815035 | GAA | c.858+7_858+8insAGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGTGGCGGGC | CA915952248 | GAA | c.858+7_858+8insAGCGGGTGGCGGGC (n.858+7_858+8insAGCGGGTGGCGGGC) | ClinVar dbSNP |
17 | g.80107729_80107730insAGCGGGCGGCGGGCGGCGGGC | CA628018323 | GAA | c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC | CA2640279956 | GAA | c.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC) | gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC | CA915952249 | GAA | c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC) | ClinVar dbSNP gnomAD v4 |
17 | g.80107728_80107731dup | CA2640279947 | GAA | c.858+6_858+9dup (n.858+6_858+9dup) | gnomAD v4 |
17 | g.80107728_80107733delinsAGCGGGC | CA919905406 | GAA | c.858+6_858+11delinsAGCGGGC (n.858+6_858+11delinsAGCGGGC) | dbSNP |
17 | g.80107739_80107745dup | CA180075 | GAA | c.858+17_858+23dup (n.858+17_858+23dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107739_80107745del | CA8815034 | GAA | c.858+17_858+23del (n.858+17_858+23del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729C= | CA2277812346 | GAA | c.858+7C= (n.858+7C=) | |
17 | g.80107729C>T | CA294889796 | GAA | c.858+7C>T (n.858+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGAC | CA8815038 | GAA | c.858+7_858+8insAGCGGAC (n.858+7_858+8insAGCGGAC) | dbSNP ExAC |
17 | g.80107729_80107730insAGCGGTC | CA2733929470 | GAA | c.858+7_858+8insAGCGGTC (n.858+7_858+8insAGCGGTC) | dbSNP |
17 | g.80107729_80107732delinsCGGC | CA2277812347 | GAA | c.858+7_858+10delinsCGGC (n.858+7_858+10delinsCGGC) | |
17 | g.80107729_80107730insA | CA628018324 | GAA | c.858+7_858+8insA (n.858+7_858+8insA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCG | CA8815040 | GAA | c.858+7_858+8insAGCG (n.858+7_858+8insAGCG) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGA | CA2733929157 | GAA | c.858+7_858+8insAGCGGGA (n.858+7_858+8insAGCGGGA) | dbSNP |
17 | g.80107729_80107730insAGCGGGG | CA2733929158 | GAA | c.858+7_858+8insAGCGGGG (n.858+7_858+8insAGCGGGG) | dbSNP |
17 | g.80107729_80107730insAGCGGGT | CA8815041 | GAA | c.858+7_858+8insAGCGGGT (n.858+7_858+8insAGCGGGT) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGTA | CA2733929160 | GAA | c.858+7_858+8insAGCGGTA (n.858+7_858+8insAGCGGTA) | dbSNP |
17 | g.80107729_80107730insAGGGGGG | CA2733929159 | GAA | c.858+7_858+8insAGGGGGG (n.858+7_858+8insAGGGGGG) | dbSNP |
17 | g.80107730G>A | CA152922 | GAA | c.858+8G>A (n.858+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107730G= | CA2277812348 | GAA | c.858+8G= (n.858+8G=) | |
17 | g.80107730G>T | CA2640279974 | GAA | c.858+8G>T (n.858+8G>T) | gnomAD v4 |
17 | g.80107730_80107732delinsAGCGGGCGGT | CA658798977 | GAA | c.858+8_858+10delinsAGCGGGCGGT (n.858+8_858+10delinsAGCGGGCGGT) | ClinVar dbSNP |
17 | g.80107730_80107731insCGGGCA | CA628018325 | GAA | c.858+8_858+9insCGGGCA (n.858+8_858+9insCGGGCA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107731G>A | CA2580095282 | GAA | c.858+9G>A (n.858+9G>A) | ClinVar gnomAD v4 |
17 | g.80107732C>A | CA8815043 | GAA | c.858+10C>A (n.858+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107732C= | CA2277812349 | GAA | c.858+10C= (n.858+10C=) | |
17 | g.80107732C>T | CA8815044 | GAA | c.858+10C>T (n.858+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107733G>A | CA628018326 | GAA | c.858+11G>A (n.858+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107733G= | CA2277812350 | GAA | c.858+11G= (n.858+11G=) | |
17 | g.80107734_80107735insTGG | CA8815042 | GAA | c.858+12_858+13insTGG (n.858+12_858+13insTGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107734G>A | CA2640280003 | GAA | c.858+12G>A (n.858+12G>A) | gnomAD v4 |
17 | g.80107734G>C | CA775511394 | GAA | c.858+12G>C (n.858+12G>C) | ClinVar dbSNP |
17 | g.80107734G= | CA2277812351 | GAA | c.858+12G= (n.858+12G=) | |
17 | g.80107734_80107735insCG | CA2810576424 | GAA | c.858+12_858+13insCG (n.858+12_858+13insCG) | |
17 | g.80107734_80107735insCAG | CA8815045 | GAA | c.858+12_858+13insCAG (n.858+12_858+13insCAG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107736C= | CA2277812352 | GAA | c.858+14C= (n.858+14C=) | |
17 | g.80107736C>T | CA8815046 | GAA | c.858+14C>T (n.858+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107737G>A | CA8815047 | GAA | c.858+15G>A (n.858+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107737G= | CA2277812353 | GAA | c.858+15G= (n.858+15G=) | |
17 | g.80107739C= | CA2277812354 | GAA | c.858+17C= (n.858+17C=) | |
17 | g.80107739C>G | CA2640280014 | GAA | c.858+17C>G (n.858+17C>G) | gnomAD v4 |
17 | g.80107739C>T | CA8815048 | GAA | c.858+17C>T (n.858+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107740G>A | CA8815049 | GAA | c.858+18G>A (n.858+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107740G= | CA2277812355 | GAA | c.858+18G= (n.858+18G=) | |
17 | g.80107741G>A | CA775511406 | GAA | c.858+19G>A (n.858+19G>A) | dbSNP |
17 | g.80107741G= | CA2277812356 | GAA | c.858+19G= (n.858+19G=) | |
17 | g.80107741G>T | CA628018338 | GAA | c.858+19G>T (n.858+19G>T) | ClinVar dbSNP gnomAD v2 |
17 | g.80107742G>A | CA656889642 | GAA | c.858+20G>A (n.858+20G>A) | COSMIC |
17 | g.80107742G>T | CA2739268464 | GAA | c.858+20G>T (n.858+20G>T) | ClinVar |
17 | g.80107743C= | CA2277812357 | GAA | c.858+21C= (n.858+21C=) | |
17 | g.80107743C>G | CA658795241 | GAA | c.858+21C>G (n.858+21C>G) | |
17 | g.80107743C>T | CA8815050 | GAA | c.858+21C>T (n.858+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107745_80107746insCGGTCGG | CA2640280024 | GAA | c.858+23_858+24insCGGTCGG (n.858+23_858+24insCGGTCGG) | gnomAD v4 |
17 | g.80107744G>A | CA8815051 | GAA | c.858+22G>A (n.858+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107744G= | CA2277812358 | GAA | c.858+22G= (n.858+22G=) | |
17 | g.80107748dup | CA2832565440 | GAA | c.858+26dup (n.858+26dup) | |
17 | g.80107745G>A | CA775511417 | GAA | c.858+23G>A (n.858+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107745G= | CA2277812359 | GAA | c.858+23G= (n.858+23G=) | |
17 | g.80107745G>T | CA8815053 | GAA | c.858+23G>T (n.858+23G>T) | dbSNP ExAC |
17 | g.80107745_80107746insCGGGCG | CA2640280029 | GAA | c.858+23_858+24insCGGGCG (n.858+23_858+24insCGGGCG) | dbSNP gnomAD v4 |
17 | g.80107746_80107747insCGGGCGG | CA502402723 | GAA | c.858+24_858+25insCGGGCGG (n.858+24_858+25insCGGGCGG) | |
17 | g.80107745_80107746insC | CA8815052 | GAA | c.858+23_858+24insC (n.858+23_858+24insC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107746G>A | CA2640280032 | GAA | c.858+24G>A (n.858+24G>A) | gnomAD v4 |
17 | g.80107746G>C | CA8815054 | GAA | c.858+24G>C (n.858+24G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80107746G= | CA2277812360 | GAA | c.858+24G= (n.858+24G=) | |
17 | g.80107747G>A | CA2576413982 | GAA | c.858+25G>A (n.858+25G>A) | |
17 | g.80107747G= | CA2277812361 | GAA | c.858+25G= (n.858+25G=) | |
17 | g.80107747G>T | CA628018339 | GAA | c.858+25G>T (n.858+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107747_80107749dup | CA8815055 | GAA | c.858+25_858+27dup (n.858+25_858+27dup) | dbSNP ExAC |
17 | g.80107748G>A | CA8815056 | GAA | c.858+26G>A (n.858+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107748G>C | CA2810576427 | GAA | c.858+26G>C (n.858+26G>C) | |
17 | g.80107748G= | CA2277812362 | GAA | c.858+26G= (n.858+26G=) | |
17 | g.80107748G>T | CA8815057 | GAA | c.858+26G>T (n.858+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107750A= | CA2277812363 | GAA | c.858+28A= (n.858+28A=) | |
17 | g.80107750A>C | CA8815059 | GAA | c.858+28A>C (n.858+28A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107750A>G | CA8815058 | GAA | c.858+28A>G (n.858+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107751C= | CA2277812364 | GAA | c.858+29C= (n.858+29C=) | |
17 | g.80107751C>G | CA8815060 | GAA | c.858+29C>G (n.858+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107751C>T | CA2576413983 | GAA | c.858+29C>T (n.858+29C>T) | gnomAD v4 |
17 | g.80107752T>A | CA2277812366 | GAA | c.858+30T>A (n.858+30T>A) | dbSNP |
17 | g.80107752T>C | CA180076 | GAA | c.858+30T>C (n.858+30T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107752T>G | CA2277812365 | GAA | c.858+30T>G (n.858+30T>G) | dbSNP |
17 | g.80107752T= | CA2277812367 | GAA | c.858+30T= (n.858+30T=) | |
17 | g.80107753G>A | CA8815061 | GAA | c.858+31G>A (n.858+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107753G= | CA2277812368 | GAA | c.858+31G= (n.858+31G=) | |
17 | g.80107753G>T | CA502402724 | GAA | c.858+31G>T (n.858+31G>T) | |
17 | g.80107755G>A | CA8815062 | GAA | c.858+33G>A (n.858+33G>A) | dbSNP ExAC |
17 | g.80107755G= | CA2277812369 | GAA | c.858+33G= (n.858+33G=) | |
17 | g.80107757T>A | CA986705217 | GAA | c.858+35T>A (n.858+35T>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107757T= | CA2277812370 | GAA | c.858+35T= (n.858+35T=) | |
17 | g.80107758G>A | CA2640280057 | GAA | c.858+36G>A (n.858+36G>A) | gnomAD v4 |
17 | g.80107761G>A | CA628018340 | GAA | c.859-39G>A (n.859-39G>A) | dbSNP gnomAD v2 |
17 | g.80107761G= | CA2277812371 | GAA | c.859-39G= (n.859-39G=) | |
17 | g.80107761G>T | CA986705219 | GAA | c.859-39G>T (n.859-39G>T) | gnomAD v3 gnomAD v4 |
17 | g.80107763G>A | CA628018341 | GAA | c.859-37G>A (n.859-37G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107763G= | CA2277812372 | GAA | c.859-37G= (n.859-37G=) | |
17 | g.80107764C= | CA2277812373 | GAA | c.859-36C= (n.859-36C=) | |
17 | g.80107764C>G | CA294889874 | GAA | c.859-36C>G (n.859-36C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107764C>T | CA8815063 | GAA | c.859-36C>T (n.859-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107765G>A | CA8815064 | GAA | c.859-35G>A (n.859-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107765G= | CA2277812374 | GAA | c.859-35G= (n.859-35G=) | |
17 | g.80107766C>T | CA2576413984 | GAA | c.859-34C>T (n.859-34C>T) | |
17 | g.80107768G>A | CA628018342 | GAA | c.859-32G>A (n.859-32G>A) | dbSNP gnomAD v2 |
17 | g.80107768G= | CA2277812375 | GAA | c.859-32G= (n.859-32G=) | |
17 | g.80107769G>A | CA294889883 | GAA | c.859-31G>A (n.859-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107769G= | CA2277812376 | GAA | c.859-31G= (n.859-31G=) | |
17 | g.80107770T>A | CA2277812378 | GAA | c.859-30T>A (n.859-30T>A) | dbSNP |
17 | g.80107770T= | CA2277812377 | GAA | c.859-30T= (n.859-30T=) | |
17 | g.80107771G>T | CA2640280068 | GAA | c.859-29G>T (n.859-29G>T) | gnomAD v4 |
17 | g.80107771_80107772delinsGC | CA2277812379 | GAA | c.859-29_859-28delinsGC (n.859-29_859-28delinsGC) | |
17 | g.80107772del | CA628018343 | GAA | c.859-28del (n.859-28del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107773T>A | CA2640280072 | GAA | c.859-27T>A (n.859-27T>A) | gnomAD v4 |
17 | g.80107773T>C | CA2640280073 | GAA | c.859-27T>C (n.859-27T>C) | gnomAD v4 |
17 | g.80107774G>A | CA2576413985 | GAA | c.859-26G>A (n.859-26G>A) | gnomAD v4 |
17 | g.80107776A= | CA2277812380 | GAA | c.859-24A= (n.859-24A=) | |
17 | g.80107776A>C | CA2277812381 | GAA | c.859-24A>C (n.859-24A>C) | dbSNP |
17 | g.80107776A>T | CA2640280074 | GAA | c.859-24A>T (n.859-24A>T) | dbSNP gnomAD v4 |
17 | g.80107778C= | CA2277812382 | GAA | c.859-22C= (n.859-22C=) | |
17 | g.80107778C>T | CA8815065 | GAA | c.859-22C>T (n.859-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107779G>A | CA8815066 | GAA | c.859-21G>A (n.859-21G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107779G= | CA2277812383 | GAA | c.859-21G= (n.859-21G=) | |
17 | g.80107780C= | CA2277812384 | GAA | c.859-20C= (n.859-20C=) | |
17 | g.80107780C>T | CA656889655 | GAA | c.859-20C>T (n.859-20C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80107781C>A | CA2640280079 | GAA | c.859-19C>A (n.859-19C>A) | gnomAD v4 |
17 | g.80107781C= | CA2277812385 | GAA | c.859-19C= (n.859-19C=) | |
17 | g.80107781C>T | CA628018344 | GAA | c.859-19C>T (n.859-19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107782G>A | CA8815067 | GAA | c.859-18G>A (n.859-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107782G>C | CA2277812387 | GAA | c.859-18G>C (n.859-18G>C) | ClinVar dbSNP |
17 | g.80107782G= | CA2277812386 | GAA | c.859-18G= (n.859-18G=) | |
17 | g.80107784C>A | CA628018345 | GAA | c.859-16C>A (n.859-16C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107784C= | CA2277812388 | GAA | c.859-16C= (n.859-16C=) | |
17 | g.80107786C= | CA2277812389 | GAA | c.859-14C= (n.859-14C=) | |
17 | g.80107786C>G | CA8815068 | GAA | c.859-14C>G (n.859-14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107786C>T | CA775511475 | GAA | c.859-14C>T (n.859-14C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107787C>G | CA2810576431 | GAA | c.859-13C>G (n.859-13C>G) | |
17 | g.80107789G>A | CA2640280090 | GAA | c.859-11G>A (n.859-11G>A) | gnomAD v4 |
17 | g.80107789G>T | CA2640280091 | GAA | c.859-11G>T (n.859-11G>T) | gnomAD v4 |