Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.34005726_34005727del | CA3226224 | AMACR,C1QTNF3-AMACR | c.391+31_391+32del (n.391+31_391+32del) c.833+31_833+32del (n.833+31_833+32del) n.403+31_403+32del n.908+31_908+32del | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005728G>A | CA2673481654 | AMACR,C1QTNF3-AMACR | c.391+28C>T (n.391+28C>T) c.833+28C>T (n.833+28C>T) n.403+28C>T n.908+28C>T | gnomAD v4 |
5 | g.34005728G>C | CA2673481653 | AMACR,C1QTNF3-AMACR | c.391+28C>G (n.391+28C>G) c.833+28C>G (n.833+28C>G) n.403+28C>G n.908+28C>G | gnomAD v4 |
5 | g.34005729T>C | CA3226225 | AMACR,C1QTNF3-AMACR | c.391+27A>G (n.391+27A>G) c.833+27A>G (n.833+27A>G) n.403+27A>G n.908+27A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005729T>G | CA2578282555 | AMACR,C1QTNF3-AMACR | c.391+27A>C (n.391+27A>C) c.833+27A>C (n.833+27A>C) n.403+27A>C n.908+27A>C | |
5 | g.34005729T= | CA1538247169 | AMACR,C1QTNF3-AMACR | c.391+27A= (n.391+27A=) c.833+27A= (n.833+27A=) n.403+27A= n.908+27A= | |
5 | g.34005731T>C | CA2673481655 | AMACR,C1QTNF3-AMACR | c.391+25A>G (n.391+25A>G) c.833+25A>G (n.833+25A>G) n.403+25A>G n.908+25A>G | gnomAD v4 |
5 | g.34005731T>G | CA3226226 | AMACR,C1QTNF3-AMACR | c.391+25A>C (n.391+25A>C) c.833+25A>C (n.833+25A>C) n.403+25A>C n.908+25A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005731T= | CA1538247171 | AMACR,C1QTNF3-AMACR | c.391+25A= (n.391+25A=) c.833+25A= (n.833+25A=) n.403+25A= n.908+25A= | |
5 | g.34005732A= | CA1538247177 | AMACR,C1QTNF3-AMACR | c.391+24T= (n.391+24T=) c.833+24T= (n.833+24T=) n.403+24T= n.908+24T= | |
5 | g.34005732A>C | CA3226227 | AMACR,C1QTNF3-AMACR | c.391+24T>G (n.391+24T>G) c.833+24T>G (n.833+24T>G) n.403+24T>G n.908+24T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005733G>A | CA2673481656 | AMACR,C1QTNF3-AMACR | c.391+23C>T (n.391+23C>T) c.833+23C>T (n.833+23C>T) n.403+23C>T n.908+23C>T | gnomAD v4 |
5 | g.34005735C>A | CA3226228 | AMACR,C1QTNF3-AMACR | c.391+21G>T (n.391+21G>T) c.833+21G>T (n.833+21G>T) n.403+21G>T n.908+21G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005735C= | CA1538247180 | AMACR,C1QTNF3-AMACR | c.391+21G= (n.391+21G=) c.833+21G= (n.833+21G=) n.403+21G= n.908+21G= | |
5 | g.34005739del | CA2673481657 | AMACR,C1QTNF3-AMACR | c.391+19del (n.391+19del) c.833+19del (n.833+19del) n.403+19del n.908+19del | gnomAD v4 |
5 | g.34005739A= | CA1538247184 | AMACR,C1QTNF3-AMACR | c.391+17T= (n.391+17T=) c.833+17T= (n.833+17T=) n.403+17T= n.908+17T= | |
5 | g.34005739A>G | CA810019775 | AMACR,C1QTNF3-AMACR | c.391+17T>C (n.391+17T>C) c.833+17T>C (n.833+17T>C) n.403+17T>C n.908+17T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005739A>T | CA2673481658 | AMACR,C1QTNF3-AMACR | c.391+17T>A (n.391+17T>A) c.833+17T>A (n.833+17T>A) n.403+17T>A n.908+17T>A | gnomAD v4 |
5 | g.34005739_34005740delinsAT | CA1538247182 | AMACR,C1QTNF3-AMACR | c.391+16_391+17delinsAT (n.391+16_391+17delinsAT) c.833+16_833+17delinsAT (n.833+16_833+17delinsAT) n.403+16_403+17delinsAT n.908+16_908+17delinsAT | |
5 | g.34005740T>C | CA2673481659 | AMACR,C1QTNF3-AMACR | c.391+16A>G (n.391+16A>G) c.833+16A>G (n.833+16A>G) n.403+16A>G n.908+16A>G | gnomAD v4 |
5 | g.34005747dup | CA558971098 | AMACR,C1QTNF3-AMACR | c.391+16dup (n.391+16dup) c.833+16dup (n.833+16dup) n.403+16dup n.908+16dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005747del | CA3226229 | AMACR,C1QTNF3-AMACR | c.391+16del (n.391+16del) c.833+16del (n.833+16del) n.403+16del n.908+16del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005741T>G | CA1074910623 | AMACR,C1QTNF3-AMACR | c.391+15A>C (n.391+15A>C) c.833+15A>C (n.833+15A>C) n.403+15A>C n.908+15A>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005741T= | CA1538247186 | AMACR,C1QTNF3-AMACR | c.391+15A= (n.391+15A=) c.833+15A= (n.833+15A=) n.403+15A= n.908+15A= | |
5 | g.34005742T>C | CA2673481660 | AMACR,C1QTNF3-AMACR | c.391+14A>G (n.391+14A>G) c.833+14A>G (n.833+14A>G) n.403+14A>G n.908+14A>G | gnomAD v4 |
5 | g.34005743T>A | CA3226230 | AMACR,C1QTNF3-AMACR | c.391+13A>T (n.391+13A>T) c.833+13A>T (n.833+13A>T) n.403+13A>T n.908+13A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005743T= | CA1538247189 | AMACR,C1QTNF3-AMACR | c.391+13A= (n.391+13A=) c.833+13A= (n.833+13A=) n.403+13A= n.908+13A= | |
5 | g.34005744T>A | CA3226231 | AMACR,C1QTNF3-AMACR | c.391+12A>T (n.391+12A>T) c.833+12A>T (n.833+12A>T) n.403+12A>T n.908+12A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005744T>C | CA2673481661 | AMACR,C1QTNF3-AMACR | c.391+12A>G (n.391+12A>G) c.833+12A>G (n.833+12A>G) n.403+12A>G n.908+12A>G | gnomAD v4 |
5 | g.34005744T= | CA1538247194 | AMACR,C1QTNF3-AMACR | c.391+12A= (n.391+12A=) c.833+12A= (n.833+12A=) n.403+12A= n.908+12A= | |
5 | g.34005747T>C | CA2673481662 | AMACR,C1QTNF3-AMACR | c.391+9A>G (n.391+9A>G) c.833+9A>G (n.833+9A>G) n.403+9A>G n.908+9A>G | gnomAD v4 |
5 | g.34005749A>T | CA2673481663 | AMACR,C1QTNF3-AMACR | c.391+7T>A (n.391+7T>A) c.833+7T>A (n.833+7T>A) n.403+7T>A n.908+7T>A | gnomAD v4 |
5 | g.34005752A= | CA1538247198 | AMACR,C1QTNF3-AMACR | c.391+4T= (n.391+4T=) c.833+4T= (n.833+4T=) n.403+4T= n.908+4T= | |
5 | g.34005752A>T | CA810019783 | AMACR,C1QTNF3-AMACR | c.391+4T>A (n.391+4T>A) c.833+4T>A (n.833+4T>A) n.403+4T>A n.908+4T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005753T>C | CA1538247201 | AMACR,C1QTNF3-AMACR | c.391+3A>G (n.391+3A>G) c.833+3A>G (n.833+3A>G) n.403+3A>G n.908+3A>G | ClinVar dbSNP |
5 | g.34005753T= | CA1538247200 | AMACR,C1QTNF3-AMACR | c.391+3A= (n.391+3A=) c.833+3A= (n.833+3A=) n.403+3A= n.908+3A= | |
5 | g.34005754A>C | CA359383556 | AMACR,C1QTNF3-AMACR | c.391+2T>G (n.391+2T>G) c.833+2T>G (n.833+2T>G) n.403+2T>G n.908+2T>G | |
5 | g.34005754A>G | CA359383558 | AMACR,C1QTNF3-AMACR | c.391+2T>C (n.391+2T>C) c.833+2T>C (n.833+2T>C) n.403+2T>C n.908+2T>C | |
5 | g.34005754A>T | CA359383561 | AMACR,C1QTNF3-AMACR | c.391+2T>A (n.391+2T>A) c.833+2T>A (n.833+2T>A) n.403+2T>A n.908+2T>A | |
5 | g.34005755C>A | CA359383563 | AMACR,C1QTNF3-AMACR | c.391+1G>T (n.391+1G>T) c.833+1G>T (n.833+1G>T) n.403+1G>T n.908+1G>T | |
5 | g.34005755C>G | CA359383565 | AMACR,C1QTNF3-AMACR | c.391+1G>C (n.391+1G>C) c.833+1G>C (n.833+1G>C) n.403+1G>C n.908+1G>C | |
5 | g.34005755C>T | CA359383567 | AMACR,C1QTNF3-AMACR | c.391+1G>A (n.391+1G>A) c.833+1G>A (n.833+1G>A) n.403+1G>A n.908+1G>A | |
5 | g.34005756C>A | CA359383573 | AMACR,C1QTNF3-AMACR | c.391G>T (p.Gly131Cys) c.833G>T (p.Arg278Met) n.403G>T n.908G>T | |
5 | g.34005756C>G | CA359383571 | AMACR,C1QTNF3-AMACR | c.391G>C (p.Gly131Arg) c.833G>C (p.Arg278Thr) n.403G>C n.908G>C | |
5 | g.34005756C>T | CA359383569 | AMACR,C1QTNF3-AMACR | c.391G>A (p.Gly131Ser) c.833G>A (p.Arg278Lys) n.403G>A n.908G>A | |
5 | g.34005757T>A | CA443872081 | AMACR,C1QTNF3-AMACR | c.390A>T (p.Ser130=) c.832A>T (p.Arg278Trp) n.402A>T n.907A>T | |
5 | g.34005757T>C | CA116870859 | AMACR,C1QTNF3-AMACR | c.390A>G (p.Ser130=) c.832A>G (p.Arg278Gly) n.402A>G n.907A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005757T>G | CA443872082 | AMACR,C1QTNF3-AMACR | c.390A>C (p.Ser130=) c.832A>C (p.Arg278=) n.402A>C n.907A>C | |
5 | g.34005757T= | CA1538247204 | AMACR,C1QTNF3-AMACR | c.390A= (p.Ser130=) c.832A= (p.Arg278=) n.402A= n.907A= | |
5 | g.34005758G>A | CA359383575 | AMACR,C1QTNF3-AMACR | c.389C>T (p.Ser130Leu) c.831C>T (p.Val277=) n.401C>T n.906C>T | COSMIC COSMIC |
5 | g.34005758G>C | CA359383577 | AMACR,C1QTNF3-AMACR | c.389C>G (p.Ser130Ter) c.831C>G (p.Val277=) n.401C>G n.906C>G | ClinVar |
5 | g.34005758G>T | CA359383578 | AMACR,C1QTNF3-AMACR | c.389C>A (p.Ser130Ter) c.831C>A (p.Val277=) n.401C>A n.906C>A | gnomAD v4 |
5 | g.34005759A>C | CA359383580 | AMACR,C1QTNF3-AMACR | c.388T>G (p.Ser130Ala) c.830T>G (p.Val277Gly) n.400T>G n.905T>G | |
5 | g.34005759A>G | CA359383582 | AMACR,C1QTNF3-AMACR | c.388T>C (p.Ser130Pro) c.830T>C (p.Val277Ala) n.400T>C n.905T>C | |
5 | g.34005759A>T | CA359383584 | AMACR,C1QTNF3-AMACR | c.388T>A (p.Ser130Thr) c.830T>A (p.Val277Asp) n.400T>A n.905T>A | |
5 | g.34005760C>A | CA359383585 | AMACR,C1QTNF3-AMACR | c.387G>T (p.Leu129Phe) c.829G>T (p.Val277Phe) n.399G>T n.904G>T | dbSNP |
5 | g.34005760C= | CA1538247206 | AMACR,C1QTNF3-AMACR | c.387G= (p.Leu129=) c.829G= (p.Val277=) n.399G= n.904G= | |
5 | g.34005760C>G | CA116870861 | AMACR,C1QTNF3-AMACR | c.387G>C (p.Leu129Phe) c.829G>C (p.Val277Leu) n.399G>C n.904G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005760C>T | CA443872085 | AMACR,C1QTNF3-AMACR | c.387G>A (p.Leu129=) c.829G>A (p.Val277Ile) n.399G>A n.904G>A | |
5 | g.34005761A>C | CA359383588 | AMACR,C1QTNF3-AMACR | c.386T>G (p.Leu129Trp) c.828T>G (p.Phe276Leu) n.398T>G n.903T>G | |
5 | g.34005761A>G | CA359383590 | AMACR,C1QTNF3-AMACR | c.386T>C (p.Leu129Ser) c.828T>C (p.Phe276=) n.398T>C n.903T>C | |
5 | g.34005761A>T | CA359383592 | AMACR,C1QTNF3-AMACR | c.386T>A (p.Leu129Ter) c.828T>A (p.Phe276Leu) n.398T>A n.903T>A | |
5 | g.34005762A= | CA1538247210 | AMACR,C1QTNF3-AMACR | c.385T= (p.Leu129=) c.827T= (p.Phe276=) n.397T= n.902T= | |
5 | g.34005762A>C | CA116870872 | AMACR,C1QTNF3-AMACR | c.385T>G (p.Leu129Val) c.827T>G (p.Phe276Cys) n.397T>G n.902T>G | dbSNP |
5 | g.34005762A>G | CA443872089 | AMACR,C1QTNF3-AMACR | c.385T>C (p.Leu129=) c.827T>C (p.Phe276Ser) n.397T>C n.902T>C | |
5 | g.34005762A>T | CA359383594 | AMACR,C1QTNF3-AMACR | c.385T>A (p.Leu129Met) c.827T>A (p.Phe276Tyr) n.397T>A n.902T>A | |
5 | g.34005763A>C | CA443872090 | AMACR,C1QTNF3-AMACR | c.384T>G (p.Ala128=) c.826T>G (p.Phe276Val) n.396T>G n.901T>G | |
5 | g.34005763A>G | CA443872091 | AMACR,C1QTNF3-AMACR | c.384T>C (p.Ala128=) c.826T>C (p.Phe276Leu) n.396T>C n.901T>C | |
5 | g.34005763A>T | CA443872092 | AMACR,C1QTNF3-AMACR | c.384T>A (p.Ala128=) c.826T>A (p.Phe276Ile) n.396T>A n.901T>A | |
5 | g.34005764G>A | CA359383598 | AMACR,C1QTNF3-AMACR | c.383C>T (p.Ala128Val) c.825C>T (p.Gly275=) n.395C>T n.900C>T | |
5 | g.34005764G>C | CA359383597 | AMACR,C1QTNF3-AMACR | c.383C>G (p.Ala128Gly) c.825C>G (p.Gly275=) n.395C>G n.900C>G | |
5 | g.34005764G>T | CA359383596 | AMACR,C1QTNF3-AMACR | c.383C>A (p.Ala128Asp) c.825C>A (p.Gly275=) n.395C>A n.900C>A | |
5 | g.34005765C>A | CA359383601 | AMACR,C1QTNF3-AMACR | c.382G>T (p.Ala128Ser) c.824G>T (p.Gly275Val) n.394G>T n.899G>T | |
5 | g.34005765C>G | CA359383599 | AMACR,C1QTNF3-AMACR | c.382G>C (p.Ala128Pro) c.824G>C (p.Gly275Ala) n.394G>C n.899G>C | |
5 | g.34005765C>T | CA359383602 | AMACR,C1QTNF3-AMACR | c.382G>A (p.Ala128Thr) c.824G>A (p.Gly275Asp) n.394G>A n.899G>A | |
5 | g.34005766C>A | CA359383603 | AMACR,C1QTNF3-AMACR | c.381G>T (p.Leu127Phe) c.823G>T (p.Gly275Cys) n.393G>T n.898G>T | |
5 | g.34005766C= | CA1538247212 | AMACR,C1QTNF3-AMACR | c.381G= (p.Leu127=) c.823G= (p.Gly275=) n.393G= n.898G= | |
5 | g.34005766C>G | CA359383604 | AMACR,C1QTNF3-AMACR | c.381G>C (p.Leu127Phe) c.823G>C (p.Gly275Arg) n.393G>C n.898G>C | |
5 | g.34005766C>T | CA443872096 | AMACR,C1QTNF3-AMACR | c.381G>A (p.Leu127=) c.823G>A (p.Gly275Ser) n.393G>A n.898G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005767A>C | CA359383607 | AMACR,C1QTNF3-AMACR | c.380T>G (p.Leu127Trp) c.822T>G (p.Phe274Leu) n.392T>G n.897T>G | |
5 | g.34005767A>G | CA359383608 | AMACR,C1QTNF3-AMACR | c.380T>C (p.Leu127Ser) c.822T>C (p.Phe274=) n.392T>C n.897T>C | gnomAD v4 |
5 | g.34005767A>T | CA359383610 | AMACR,C1QTNF3-AMACR | c.380T>A (p.Leu127Ter) c.822T>A (p.Phe274Leu) n.392T>A n.897T>A | |
5 | g.34005768A>C | CA359383613 | AMACR,C1QTNF3-AMACR | c.379T>G (p.Leu127Val) c.821T>G (p.Phe274Cys) n.391T>G n.896T>G | |
5 | g.34005768A>G | CA443872097 | AMACR,C1QTNF3-AMACR | c.379T>C (p.Leu127=) c.821T>C (p.Phe274Ser) n.391T>C n.896T>C | gnomAD v4 |
5 | g.34005768A>T | CA359383615 | AMACR,C1QTNF3-AMACR | c.379T>A (p.Leu127Met) c.821T>A (p.Phe274Tyr) n.391T>A n.896T>A | gnomAD v4 |
5 | g.34005769A>C | CA359383617 | AMACR,C1QTNF3-AMACR | c.378T>G (p.Tyr126Ter) c.820T>G (p.Phe274Val) n.390T>G n.895T>G | |
5 | g.34005769A>G | CA443872098 | AMACR,C1QTNF3-AMACR | c.378T>C (p.Tyr126=) c.820T>C (p.Phe274Leu) n.390T>C n.895T>C | |
5 | g.34005769A>T | CA359383619 | AMACR,C1QTNF3-AMACR | c.378T>A (p.Tyr126Ter) c.820T>A (p.Phe274Ile) n.390T>A n.895T>A | |
5 | g.34005770T>A | CA359383621 | AMACR,C1QTNF3-AMACR | c.377A>T (p.Tyr126Phe) c.819A>T (p.Leu273=) n.389A>T n.894A>T | |
5 | g.34005770T>C | CA359383623 | AMACR,C1QTNF3-AMACR | c.377A>G (p.Tyr126Cys) c.819A>G (p.Leu273=) n.389A>G n.894A>G | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.34005770T>G | CA359383624 | AMACR,C1QTNF3-AMACR | c.377A>C (p.Tyr126Ser) c.819A>C (p.Leu273=) n.389A>C n.894A>C | |
5 | g.34005770T= | CA1538247220 | AMACR,C1QTNF3-AMACR | c.377A= (p.Tyr126=) c.819A= (p.Leu273=) n.389A= n.894A= | |
5 | g.34005771A>C | CA359383626 | AMACR,C1QTNF3-AMACR | c.376T>G (p.Tyr126Asp) c.818T>G (p.Leu273Arg) n.388T>G n.893T>G | |
5 | g.34005771A>G | CA359383628 | AMACR,C1QTNF3-AMACR | c.376T>C (p.Tyr126His) c.818T>C (p.Leu273Pro) n.388T>C n.893T>C | |
5 | g.34005771A>T | CA359383630 | AMACR,C1QTNF3-AMACR | c.376T>A (p.Tyr126Asn) c.818T>A (p.Leu273Gln) n.388T>A n.893T>A | |
5 | g.34005772G>A | CA443872101 | AMACR,C1QTNF3-AMACR | c.375C>T (p.Asn125=) c.817C>T (p.Leu273=) n.387C>T n.892C>T | |
5 | g.34005772G>C | CA359383634 | AMACR,C1QTNF3-AMACR | c.375C>G (p.Asn125Lys) c.817C>G (p.Leu273Val) n.387C>G n.892C>G | |
5 | g.34005772G>T | CA359383632 | AMACR,C1QTNF3-AMACR | c.375C>A (p.Asn125Lys) c.817C>A (p.Leu273Ile) n.387C>A n.892C>A | |
5 | g.34005773T>A | CA3226232 | AMACR,C1QTNF3-AMACR | c.374A>T (p.Asn125Ile) c.816A>T (p.Gln272His) n.386A>T n.891A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005773T>C | CA359383636 | AMACR,C1QTNF3-AMACR | c.374A>G (p.Asn125Ser) c.816A>G (p.Gln272=) n.386A>G n.891A>G | |
5 | g.34005773T>G | CA359383638 | AMACR,C1QTNF3-AMACR | c.374A>C (p.Asn125Thr) c.816A>C (p.Gln272His) n.386A>C n.891A>C | |
5 | g.34005773T= | CA1538247227 | AMACR,C1QTNF3-AMACR | c.374A= (p.Asn125=) c.816A= (p.Gln272=) n.386A= n.891A= | |
5 | g.34005774T>A | CA359383640 | AMACR,C1QTNF3-AMACR | c.373A>T (p.Asn125Tyr) c.815A>T (p.Gln272Leu) n.385A>T n.890A>T | |
5 | g.34005774T>C | CA359383641 | AMACR,C1QTNF3-AMACR | c.373A>G (p.Asn125Asp) c.815A>G (p.Gln272Arg) n.385A>G n.890A>G | |
5 | g.34005774T>G | CA359383643 | AMACR,C1QTNF3-AMACR | c.373A>C (p.Asn125His) c.815A>C (p.Gln272Pro) n.385A>C n.890A>C | |
5 | g.34005775G>A | CA443872105 | AMACR,C1QTNF3-AMACR | c.372C>T (p.Ile124=) c.814C>T (p.Gln272Ter) n.384C>T n.889C>T | |
5 | g.34005775G>C | CA359383645 | AMACR,C1QTNF3-AMACR | c.372C>G (p.Ile124Met) c.814C>G (p.Gln272Glu) n.384C>G n.889C>G | |
5 | g.34005775G>T | CA443872106 | AMACR,C1QTNF3-AMACR | c.372C>A (p.Ile124=) c.814C>A (p.Gln272Lys) n.384C>A n.889C>A | |
5 | g.34005776A>C | CA359383646 | AMACR,C1QTNF3-AMACR | c.371T>G (p.Ile124Ser) c.813T>G (p.Tyr271Ter) n.383T>G n.888T>G | |
5 | g.34005776A>G | CA359383647 | AMACR,C1QTNF3-AMACR | c.371T>C (p.Ile124Thr) c.813T>C (p.Tyr271=) n.383T>C n.888T>C | gnomAD v4 |
5 | g.34005776A>T | CA359383648 | AMACR,C1QTNF3-AMACR | c.371T>A (p.Ile124Asn) c.813T>A (p.Tyr271Ter) n.383T>A n.888T>A | |
5 | g.34005777T>A | CA359383649 | AMACR,C1QTNF3-AMACR | c.370A>T (p.Ile124Phe) c.812A>T (p.Tyr271Phe) n.382A>T n.887A>T | |
5 | g.34005777T>C | CA359383650 | AMACR,C1QTNF3-AMACR | c.370A>G (p.Ile124Val) c.812A>G (p.Tyr271Cys) n.382A>G n.887A>G | ClinVar dbSNP |
5 | g.34005777T>G | CA359383651 | AMACR,C1QTNF3-AMACR | c.370A>C (p.Ile124Leu) c.812A>C (p.Tyr271Ser) n.382A>C n.887A>C | |
5 | g.34005777T= | CA1538247229 | AMACR,C1QTNF3-AMACR | c.370A= (p.Ile124=) c.812A= (p.Tyr271=) n.382A= n.887A= | |
5 | g.34005778A>C | CA359383653 | AMACR,C1QTNF3-AMACR | c.369T>G (p.Asp123Glu) c.811T>G (p.Tyr271Asp) n.381T>G n.886T>G | |
5 | g.34005778A>G | CA443872110 | AMACR,C1QTNF3-AMACR | c.369T>C (p.Asp123=) c.811T>C (p.Tyr271His) n.381T>C n.886T>C | |
5 | g.34005778A>T | CA359383652 | AMACR,C1QTNF3-AMACR | c.369T>A (p.Asp123Glu) c.811T>A (p.Tyr271Asn) n.381T>A n.886T>A | |
5 | g.34005779T>A | CA359383654 | AMACR,C1QTNF3-AMACR | c.368A>T (p.Asp123Val) c.810A>T (p.Arg270=) n.380A>T n.885A>T | |
5 | g.34005779T>C | CA359383655 | AMACR,C1QTNF3-AMACR | c.368A>G (p.Asp123Gly) c.810A>G (p.Arg270=) n.380A>G n.885A>G | |
5 | g.34005779T>G | CA359383656 | AMACR,C1QTNF3-AMACR | c.368A>C (p.Asp123Ala) c.810A>C (p.Arg270=) n.380A>C n.885A>C | |
5 | g.34005780C>A | CA359383657 | AMACR,C1QTNF3-AMACR | c.367G>T (p.Asp123Tyr) c.809G>T (p.Arg270Leu) n.379G>T n.884G>T | |
5 | g.34005780C= | CA1538247232 | AMACR,C1QTNF3-AMACR | c.367G= (p.Asp123=) c.809G= (p.Arg270=) n.379G= n.884G= | |
5 | g.34005780C>G | CA359383658 | AMACR,C1QTNF3-AMACR | c.367G>C (p.Asp123His) c.809G>C (p.Arg270Pro) n.379G>C n.884G>C | |
5 | g.34005780C>T | CA3226233 | AMACR,C1QTNF3-AMACR | c.367G>A (p.Asp123Asn) c.809G>A (p.Arg270Gln) n.379G>A n.884G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005781G>A | CA3226234 | AMACR,C1QTNF3-AMACR | c.366C>T (p.His122=) c.808C>T (p.Arg270Ter) n.378C>T n.883C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005781G>C | CA359383663 | AMACR,C1QTNF3-AMACR | c.366C>G (p.His122Gln) c.808C>G (p.Arg270Gly) n.378C>G n.883C>G | dbSNP |
5 | g.34005781G= | CA1538247238 | AMACR,C1QTNF3-AMACR | c.366C= (p.His122=) c.808C= (p.Arg270=) n.378C= n.883C= | |
5 | g.34005781G>T | CA359383661 | AMACR,C1QTNF3-AMACR | c.366C>A (p.His122Gln) c.808C>A (p.Arg270=) n.378C>A n.883C>A | |
5 | g.34005782T>A | CA359383666 | AMACR,C1QTNF3-AMACR | c.365A>T (p.His122Leu) c.807A>T (p.Pro269=) n.377A>T n.882A>T | |
5 | g.34005782T>C | CA359383668 | AMACR,C1QTNF3-AMACR | c.365A>G (p.His122Arg) c.807A>G (p.Pro269=) n.377A>G n.882A>G | |
5 | g.34005782T>G | CA359383670 | AMACR,C1QTNF3-AMACR | c.365A>C (p.His122Pro) c.807A>C (p.Pro269=) n.377A>C n.882A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.34005782T= | CA1538247241 | AMACR,C1QTNF3-AMACR | c.365A= (p.His122=) c.807A= (p.Pro269=) n.377A= n.882A= | |
5 | g.34005783G>A | CA359383672 | AMACR,C1QTNF3-AMACR | c.364C>T (p.His122Tyr) c.806C>T (p.Pro269Leu) n.376C>T n.881C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005783G>C | CA359383674 | AMACR,C1QTNF3-AMACR | c.364C>G (p.His122Asp) c.806C>G (p.Pro269Arg) n.376C>G n.881C>G | |
5 | g.34005783G= | CA1538247243 | AMACR,C1QTNF3-AMACR | c.364C= (p.His122=) c.806C= (p.Pro269=) n.376C= n.881C= | |
5 | g.34005783G>T | CA359383676 | AMACR,C1QTNF3-AMACR | c.364C>A (p.His122Asn) c.806C>A (p.Pro269Gln) n.376C>A n.881C>A | |
5 | g.34005784G>A | CA443872116 | AMACR,C1QTNF3-AMACR | c.363C>T (p.Gly121=) c.805C>T (p.Pro269Ser) n.375C>T n.880C>T | gnomAD v4 |
5 | g.34005784G>C | CA443872118 | AMACR,C1QTNF3-AMACR | c.363C>G (p.Gly121=) c.805C>G (p.Pro269Ala) n.375C>G n.880C>G | |
5 | g.34005784G>T | CA443872120 | AMACR,C1QTNF3-AMACR | c.363C>A (p.Gly121=) c.805C>A (p.Pro269Thr) n.375C>A n.880C>A | |
5 | g.34005784_34005805delinsGCCAGCTAACCGGCAGAAGCTT | CA1538247245 | AMACR,C1QTNF3-AMACR | c.342_363delinsAAGCTTCTGCCGGTTAGCTGGC (p.Gly114=) c.784_805delinsAAGCTTCTGCCGGTTAGCTGGC (p.Lys262=) n.354_375delinsAAGCTTCTGCCGGTTAGCTGGC n.859_880delinsAAGCTTCTGCCGGTTAGCTGGC | |
5 | g.34005785C>A | CA359383679 | AMACR,C1QTNF3-AMACR | c.362G>T (p.Gly121Val) c.804G>T (p.Trp268Cys) n.374G>T n.879G>T | gnomAD v4 |
5 | g.34005785C= | CA1538247249 | AMACR,C1QTNF3-AMACR | c.362G= (p.Gly121=) c.804G= (p.Trp268=) n.374G= n.879G= | |
5 | g.34005785C>G | CA359383682 | AMACR,C1QTNF3-AMACR | c.362G>C (p.Gly121Ala) c.804G>C (p.Trp268Cys) n.374G>C n.879G>C | |
5 | g.34005785C>T | CA3226235 | AMACR,C1QTNF3-AMACR | c.362G>A (p.Gly121Asp) c.804G>A (p.Trp268Ter) n.374G>A n.879G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005785_34005786delinsAA | CA2580073173 | AMACR,C1QTNF3-AMACR | c.361_362delinsTT (p.Gly121Phe) c.803_804delinsTT (p.Trp268Phe) n.373_374delinsTT n.878_879delinsTT | ClinVar |
5 | g.34005787_34005807del | CA558971099 | AMACR,C1QTNF3-AMACR | c.342_362del (p.Ser115_Gly121del) c.784_804del (p.Lys262_Trp268del) n.354_374del n.859_879del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.34005786C>A | CA359383683 | AMACR,C1QTNF3-AMACR | c.361G>T (p.Gly121Cys) c.803G>T (p.Trp268Leu) n.373G>T n.878G>T | gnomAD v4 |
5 | g.34005786C>G | CA359383684 | AMACR,C1QTNF3-AMACR | c.361G>C (p.Gly121Arg) c.803G>C (p.Trp268Ser) n.373G>C n.878G>C | |
5 | g.34005786C>T | CA359383686 | AMACR,C1QTNF3-AMACR | c.361G>A (p.Gly121Ser) c.803G>A (p.Trp268Ter) n.373G>A n.878G>A | |
5 | g.34005787A>C | CA443872122 | AMACR,C1QTNF3-AMACR | c.360T>G (p.Ala120=) c.802T>G (p.Trp268Gly) n.372T>G n.877T>G | |
5 | g.34005787A>G | CA443872123 | AMACR,C1QTNF3-AMACR | c.360T>C (p.Ala120=) c.802T>C (p.Trp268Arg) n.372T>C n.877T>C | |
5 | g.34005787A>T | CA443872124 | AMACR,C1QTNF3-AMACR | c.360T>A (p.Ala120=) c.802T>A (p.Trp268Arg) n.372T>A n.877T>A | |
5 | g.34005788G>A | CA359383688 | AMACR,C1QTNF3-AMACR | c.359C>T (p.Ala120Val) c.801C>T (p.Ser267=) n.371C>T n.876C>T | |
5 | g.34005788G>C | CA359383689 | AMACR,C1QTNF3-AMACR | c.359C>G (p.Ala120Gly) c.801C>G (p.Ser267Arg) n.371C>G n.876C>G | |
5 | g.34005788G>T | CA359383694 | AMACR,C1QTNF3-AMACR | c.359C>A (p.Ala120Asp) c.801C>A (p.Ser267Arg) n.371C>A n.876C>A | |
5 | g.34005789C>A | CA359383696 | AMACR,C1QTNF3-AMACR | c.358G>T (p.Ala120Ser) c.800G>T (p.Ser267Ile) n.370G>T n.875G>T | |
5 | g.34005789C>G | CA359383698 | AMACR,C1QTNF3-AMACR | c.358G>C (p.Ala120Pro) c.800G>C (p.Ser267Thr) n.370G>C n.875G>C | |
5 | g.34005789C>T | CA359383700 | AMACR,C1QTNF3-AMACR | c.358G>A (p.Ala120Thr) c.800G>A (p.Ser267Asn) n.370G>A n.875G>A | |
5 | g.34005790T>A | CA359383701 | AMACR,C1QTNF3-AMACR | c.357A>T (p.Leu119Phe) c.799A>T (p.Ser267Cys) n.369A>T n.874A>T | |
5 | g.34005790T>C | CA443872128 | AMACR,C1QTNF3-AMACR | c.357A>G (p.Leu119=) c.799A>G (p.Ser267Gly) n.369A>G n.874A>G | |
5 | g.34005790T>G | CA359383703 | AMACR,C1QTNF3-AMACR | c.357A>C (p.Leu119Phe) c.799A>C (p.Ser267Arg) n.369A>C n.874A>C | |
5 | g.34005791A>C | CA359383705 | AMACR,C1QTNF3-AMACR | c.356T>G (p.Leu119Ter) c.798T>G (p.Val266=) n.368T>G n.873T>G | |
5 | g.34005791A>G | CA359383708 | AMACR,C1QTNF3-AMACR | c.356T>C (p.Leu119Ser) c.798T>C (p.Val266=) n.368T>C n.873T>C | |
5 | g.34005791A>T | CA359383706 | AMACR,C1QTNF3-AMACR | c.356T>A (p.Leu119Ter) c.798T>A (p.Val266=) n.368T>A n.873T>A | |
5 | g.34005792A>C | CA359383711 | AMACR,C1QTNF3-AMACR | c.355T>G (p.Leu119Val) c.797T>G (p.Val266Gly) n.367T>G n.872T>G | |
5 | g.34005792A>G | CA443872129 | AMACR,C1QTNF3-AMACR | c.355T>C (p.Leu119=) c.797T>C (p.Val266Ala) n.367T>C n.872T>C | |
5 | g.34005792A>T | CA359383712 | AMACR,C1QTNF3-AMACR | c.355T>A (p.Leu119Ile) c.797T>A (p.Val266Asp) n.367T>A n.872T>A | |
5 | g.34005793C>A | CA443872131 | AMACR,C1QTNF3-AMACR | c.354G>T (p.Arg118=) c.796G>T (p.Val266Phe) n.366G>T n.871G>T | |
5 | g.34005793C>G | CA443872133 | AMACR,C1QTNF3-AMACR | c.354G>C (p.Arg118=) c.796G>C (p.Val266Leu) n.366G>C n.871G>C | gnomAD v4 |
5 | g.34005793C>T | CA443872135 | AMACR,C1QTNF3-AMACR | c.354G>A (p.Arg118=) c.796G>A (p.Val266Ile) n.366G>A n.871G>A | |
5 | g.34005794C>A | CA3226237 | AMACR,C1QTNF3-AMACR | c.353G>T (p.Arg118Leu) c.795G>T (p.Pro265=) n.365G>T n.870G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005794C= | CA1538247255 | AMACR,C1QTNF3-AMACR | c.353G= (p.Arg118=) c.795G= (p.Pro265=) n.365G= n.870G= | |
5 | g.34005794C>G | CA359383716 | AMACR,C1QTNF3-AMACR | c.353G>C (p.Arg118Pro) c.795G>C (p.Pro265=) n.365G>C n.870G>C | gnomAD v4 |
5 | g.34005794C>T | CA3226236 | AMACR,C1QTNF3-AMACR | c.353G>A (p.Arg118Gln) c.795G>A (p.Pro265=) n.365G>A n.870G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005795G>A | CA3226238 | AMACR,C1QTNF3-AMACR | c.352C>T (p.Arg118Trp) c.794C>T (p.Pro265Leu) n.364C>T n.869C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.34005795G>C | CA359383719 | AMACR,C1QTNF3-AMACR | c.352C>G (p.Arg118Gly) c.794C>G (p.Pro265Arg) n.364C>G n.869C>G | dbSNP gnomAD v4 |
5 | g.34005795G= | CA1538247265 | AMACR,C1QTNF3-AMACR | c.352C= (p.Arg118=) c.794C= (p.Pro265=) n.364C= n.869C= | |
5 | g.34005795G>T | CA3226239 | AMACR,C1QTNF3-AMACR | c.352C>A (p.Arg118=) c.794C>A (p.Pro265Gln) n.364C>A n.869C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005796G>A | CA443872136 | AMACR,C1QTNF3-AMACR | c.351C>T (p.Cys117=) c.793C>T (p.Pro265Ser) n.363C>T n.868C>T | gnomAD v4 |
5 | g.34005796G>C | CA359383722 | AMACR,C1QTNF3-AMACR | c.351C>G (p.Cys117Trp) c.793C>G (p.Pro265Ala) n.363C>G n.868C>G | |
5 | g.34005796G>T | CA359383724 | AMACR,C1QTNF3-AMACR | c.351C>A (p.Cys117Ter) c.793C>A (p.Pro265Thr) n.363C>A n.868C>A | |
5 | g.34005797C>A | CA359383727 | AMACR,C1QTNF3-AMACR | c.350G>T (p.Cys117Phe) c.792G>T (p.Leu264=) n.362G>T n.867G>T | |
5 | g.34005797C>G | CA359383728 | AMACR,C1QTNF3-AMACR | c.350G>C (p.Cys117Ser) c.792G>C (p.Leu264=) n.362G>C n.867G>C | dbSNP |
5 | g.34005797C>T | CA359383730 | AMACR,C1QTNF3-AMACR | c.350G>A (p.Cys117Tyr) c.792G>A (p.Leu264=) n.362G>A n.867G>A | |
5 | g.34005798A>C | CA359383737 | AMACR,C1QTNF3-AMACR | c.349T>G (p.Cys117Gly) c.791T>G (p.Leu264Arg) n.361T>G n.866T>G | COSMIC COSMIC |
5 | g.34005798A>G | CA359383735 | AMACR,C1QTNF3-AMACR | c.349T>C (p.Cys117Arg) c.791T>C (p.Leu264Pro) n.361T>C n.866T>C | |
5 | g.34005798A>T | CA359383736 | AMACR,C1QTNF3-AMACR | c.349T>A (p.Cys117Ser) c.791T>A (p.Leu264Gln) n.361T>A n.866T>A | |
5 | g.34005799G>A | CA443872140 | AMACR,C1QTNF3-AMACR | c.348C>T (p.Phe116=) c.790C>T (p.Leu264=) n.360C>T n.865C>T | |
5 | g.34005799G>C | CA359383739 | AMACR,C1QTNF3-AMACR | c.348C>G (p.Phe116Leu) c.790C>G (p.Leu264Val) n.360C>G n.865C>G | |
5 | g.34005799G>T | CA359383740 | AMACR,C1QTNF3-AMACR | c.348C>A (p.Phe116Leu) c.790C>A (p.Leu264Met) n.360C>A n.865C>A | |
5 | g.34005800A>C | CA359383741 | AMACR,C1QTNF3-AMACR | c.347T>G (p.Phe116Cys) c.789T>G (p.Leu263=) n.359T>G n.864T>G | |
5 | g.34005800A>G | CA359383742 | AMACR,C1QTNF3-AMACR | c.347T>C (p.Phe116Ser) c.789T>C (p.Leu263=) n.359T>C n.864T>C | |
5 | g.34005800A>T | CA359383744 | AMACR,C1QTNF3-AMACR | c.347T>A (p.Phe116Tyr) c.789T>A (p.Leu263=) n.359T>A n.864T>A | |
5 | g.34005801A>C | CA359383746 | AMACR,C1QTNF3-AMACR | c.346T>G (p.Phe116Val) c.788T>G (p.Leu263Arg) n.358T>G n.863T>G | |
5 | g.34005801A>G | CA359383748 | AMACR,C1QTNF3-AMACR | c.346T>C (p.Phe116Leu) c.788T>C (p.Leu263Pro) n.358T>C n.863T>C | |
5 | g.34005801A>T | CA359383749 | AMACR,C1QTNF3-AMACR | c.346T>A (p.Phe116Ile) c.788T>A (p.Leu263His) n.358T>A n.863T>A | |
5 | g.34005802G>A | CA3226240 | AMACR,C1QTNF3-AMACR | c.345C>T (p.Ser115=) c.787C>T (p.Leu263Phe) n.357C>T n.862C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005802G>C | CA359383751 | AMACR,C1QTNF3-AMACR | c.345C>G (p.Ser115Arg) c.787C>G (p.Leu263Val) n.357C>G n.862C>G | |
5 | g.34005802G= | CA1538247268 | AMACR,C1QTNF3-AMACR | c.345C= (p.Ser115=) c.787C= (p.Leu263=) n.357C= n.862C= | |
5 | g.34005802G>T | CA359383752 | AMACR,C1QTNF3-AMACR | c.345C>A (p.Ser115Arg) c.787C>A (p.Leu263Ile) n.357C>A n.862C>A | |
5 | g.34005803C>A | CA359383754 | AMACR,C1QTNF3-AMACR | c.344G>T (p.Ser115Ile) c.786G>T (p.Lys262Asn) n.356G>T n.861G>T | |
5 | g.34005803C>G | CA359383755 | AMACR,C1QTNF3-AMACR | c.344G>C (p.Ser115Thr) c.786G>C (p.Lys262Asn) n.356G>C n.861G>C | |
5 | g.34005803C>T | CA359383753 | AMACR,C1QTNF3-AMACR | c.344G>A (p.Ser115Asn) c.786G>A (p.Lys262=) n.356G>A n.861G>A | gnomAD v4 |
5 | g.34005804T>A | CA359383756 | AMACR,C1QTNF3-AMACR | c.343A>T (p.Ser115Cys) c.785A>T (p.Lys262Met) n.355A>T n.860A>T | |
5 | g.34005804T>C | CA359383757 | AMACR,C1QTNF3-AMACR | c.343A>G (p.Ser115Gly) c.785A>G (p.Lys262Arg) n.355A>G n.860A>G | ClinVar |
5 | g.34005804T>G | CA359383759 | AMACR,C1QTNF3-AMACR | c.343A>C (p.Ser115Arg) c.785A>C (p.Lys262Thr) n.355A>C n.860A>C | |
5 | g.34005805T>A | CA443872143 | AMACR,C1QTNF3-AMACR | c.342A>T (p.Gly114=) c.784A>T (p.Lys262Ter) n.354A>T n.859A>T | |
5 | g.34005805T>C | CA443872144 | AMACR,C1QTNF3-AMACR | c.342A>G (p.Gly114=) c.784A>G (p.Lys262Glu) n.354A>G n.859A>G | |
5 | g.34005805T>G | CA443872146 | AMACR,C1QTNF3-AMACR | c.342A>C (p.Gly114=) c.784A>C (p.Lys262Gln) n.354A>C n.859A>C | |
5 | g.34005806C>A | CA359383761 | AMACR,C1QTNF3-AMACR | c.341G>T (p.Gly114Val) c.783G>T (p.Arg261Ser) n.353G>T n.858G>T | |
5 | g.34005806C>G | CA359383764 | AMACR,C1QTNF3-AMACR | c.341G>C (p.Gly114Ala) c.783G>C (p.Arg261Ser) n.353G>C n.858G>C | |
5 | g.34005806C>T | CA359383765 | AMACR,C1QTNF3-AMACR | c.341G>A (p.Gly114Glu) c.783G>A (p.Arg261=) n.353G>A n.858G>A | |
5 | g.34005807C>A | CA359383767 | AMACR,C1QTNF3-AMACR | c.340G>T (p.Gly114Ter) c.782G>T (p.Arg261Met) n.352G>T n.857G>T | |
5 | g.34005807C>G | CA359383769 | AMACR,C1QTNF3-AMACR | c.340G>C (p.Gly114Arg) c.782G>C (p.Arg261Thr) n.352G>C n.857G>C | |
5 | g.34005807C>T | CA359383770 | AMACR,C1QTNF3-AMACR | c.340G>A (p.Gly114Arg) c.782G>A (p.Arg261Lys) n.352G>A n.857G>A | |
5 | g.34005808T>A | CA443872149 | AMACR,C1QTNF3-AMACR | c.339A>T (p.Ser113=) c.781A>T (p.Arg261Trp) n.351A>T n.856A>T | gnomAD v4 |
5 | g.34005808T>C | CA443872150 | AMACR,C1QTNF3-AMACR | c.339A>G (p.Ser113=) c.781A>G (p.Arg261Gly) n.351A>G n.856A>G | |
5 | g.34005808T>G | CA443872151 | AMACR,C1QTNF3-AMACR | c.339A>C (p.Ser113=) c.781A>C (p.Arg261=) n.351A>C n.856A>C | |
5 | g.34005809G>A | CA359383773 | AMACR,C1QTNF3-AMACR | c.338C>T (p.Ser113Leu) c.780C>T (p.Val260=) n.350C>T n.855C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005809G>C | CA359383775 | AMACR,C1QTNF3-AMACR | c.338C>G (p.Ser113Ter) c.780C>G (p.Val260=) n.350C>G n.855C>G | |
5 | g.34005809G= | CA1538247271 | AMACR,C1QTNF3-AMACR | c.338C= (p.Ser113=) c.780C= (p.Val260=) n.350C= n.855C= | |
5 | g.34005809G>T | CA359383777 | AMACR,C1QTNF3-AMACR | c.338C>A (p.Ser113Ter) c.780C>A (p.Val260=) n.350C>A n.855C>A | |
5 | g.34005810A>C | CA359383779 | AMACR,C1QTNF3-AMACR | c.337T>G (p.Ser113Ala) c.779T>G (p.Val260Gly) n.349T>G n.854T>G | |
5 | g.34005810A>G | CA359383781 | AMACR,C1QTNF3-AMACR | c.337T>C (p.Ser113Pro) c.779T>C (p.Val260Ala) n.349T>C n.854T>C | |
5 | g.34005810A>T | CA359383778 | AMACR,C1QTNF3-AMACR | c.337T>A (p.Ser113Thr) c.779T>A (p.Val260Asp) n.349T>A n.854T>A | |
5 | g.34005811C>A | CA359383785 | AMACR,C1QTNF3-AMACR | c.336G>T (p.Gln112His) c.778G>T (p.Val260Phe) n.348G>T n.853G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005811C= | CA1538247274 | AMACR,C1QTNF3-AMACR | c.336G= (p.Gln112=) c.778G= (p.Val260=) n.348G= n.853G= | |
5 | g.34005811C>G | CA359383786 | AMACR,C1QTNF3-AMACR | c.336G>C (p.Gln112His) c.778G>C (p.Val260Leu) n.348G>C n.853G>C | |
5 | g.34005811C>T | CA443872156 | AMACR,C1QTNF3-AMACR | c.336G>A (p.Gln112=) c.778G>A (p.Val260Ile) n.348G>A n.853G>A | |
5 | g.34005812T>A | CA359383788 | AMACR,C1QTNF3-AMACR | c.335A>T (p.Gln112Leu) c.777A>T (p.Pro259=) n.347A>T n.852A>T | |
5 | g.34005812T>C | CA359383790 | AMACR,C1QTNF3-AMACR | c.335A>G (p.Gln112Arg) c.777A>G (p.Pro259=) n.347A>G n.852A>G | gnomAD v4 |
5 | g.34005812T>G | CA359383792 | AMACR,C1QTNF3-AMACR | c.335A>C (p.Gln112Pro) c.777A>C (p.Pro259=) n.347A>C n.852A>C | |
5 | g.34005813G>A | CA359383802 | AMACR,C1QTNF3-AMACR | c.334C>T (p.Gln112Ter) c.776C>T (p.Pro259Leu) n.346C>T n.851C>T | |
5 | g.34005813G>C | CA359383800 | AMACR,C1QTNF3-AMACR | c.334C>G (p.Gln112Glu) c.776C>G (p.Pro259Arg) n.346C>G n.851C>G | |
5 | g.34005813G>T | CA359383801 | AMACR,C1QTNF3-AMACR | c.334C>A (p.Gln112Lys) c.776C>A (p.Pro259Gln) n.346C>A n.851C>A | gnomAD v4 |
5 | g.34005814G>A | CA443872158 | AMACR,C1QTNF3-AMACR | c.333C>T (p.Gly111=) c.775C>T (p.Pro259Ser) n.345C>T n.850C>T | |
5 | g.34005814G>C | CA443872159 | AMACR,C1QTNF3-AMACR | c.333C>G (p.Gly111=) c.775C>G (p.Pro259Ala) n.345C>G n.850C>G | |
5 | g.34005814G>T | CA443872161 | AMACR,C1QTNF3-AMACR | c.333C>A (p.Gly111=) c.775C>A (p.Pro259Thr) n.345C>A n.850C>A | |
5 | g.34005815C>A | CA359383804 | AMACR,C1QTNF3-AMACR | c.332G>T (p.Gly111Val) c.774G>T (p.Trp258Cys) n.344G>T n.849G>T | |
5 | g.34005815C>G | CA359383806 | AMACR,C1QTNF3-AMACR | c.332G>C (p.Gly111Ala) c.774G>C (p.Trp258Cys) n.344G>C n.849G>C | |
5 | g.34005815C>T | CA359383807 | AMACR,C1QTNF3-AMACR | c.332G>A (p.Gly111Asp) c.774G>A (p.Trp258Ter) n.344G>A n.849G>A | |
5 | g.34005816C>A | CA359383809 | AMACR,C1QTNF3-AMACR | c.331G>T (p.Gly111Cys) c.773G>T (p.Trp258Leu) n.343G>T n.848G>T | |
5 | g.34005816C>G | CA359383810 | AMACR,C1QTNF3-AMACR | c.331G>C (p.Gly111Arg) c.773G>C (p.Trp258Ser) n.343G>C n.848G>C | |
5 | g.34005816C>T | CA359383811 | AMACR,C1QTNF3-AMACR | c.331G>A (p.Gly111Ser) c.773G>A (p.Trp258Ter) n.343G>A n.848G>A | gnomAD v4 |
5 | g.34005817A>C | CA359383815 | AMACR,C1QTNF3-AMACR | c.330T>G (p.Phe110Leu) c.772T>G (p.Trp258Gly) n.342T>G n.847T>G | |
5 | g.34005817A>G | CA443872162 | AMACR,C1QTNF3-AMACR | c.330T>C (p.Phe110=) c.772T>C (p.Trp258Arg) n.342T>C n.847T>C | |
5 | g.34005817A>T | CA359383813 | AMACR,C1QTNF3-AMACR | c.330T>A (p.Phe110Leu) c.772T>A (p.Trp258Arg) n.342T>A n.847T>A | |
5 | g.34005818A= | CA1538247276 | AMACR,C1QTNF3-AMACR | c.329T= (p.Phe110=) c.771T= (p.Ile257=) n.341T= n.846T= | |
5 | g.34005818A>C | CA359383819 | AMACR,C1QTNF3-AMACR | c.329T>G (p.Phe110Cys) c.771T>G (p.Ile257Met) n.341T>G n.846T>G | |
5 | g.34005818A>G | CA359383821 | AMACR,C1QTNF3-AMACR | c.329T>C (p.Phe110Ser) c.771T>C (p.Ile257=) n.341T>C n.846T>C | |
5 | g.34005818A>T | CA116870909 | AMACR,C1QTNF3-AMACR | c.329T>A (p.Phe110Tyr) c.771T>A (p.Ile257=) n.341T>A n.846T>A | dbSNP |
5 | g.34005819A>C | CA359383823 | AMACR,C1QTNF3-AMACR | c.328T>G (p.Phe110Val) c.770T>G (p.Ile257Ser) n.340T>G n.845T>G | |
5 | g.34005819A>G | CA359383825 | AMACR,C1QTNF3-AMACR | c.328T>C (p.Phe110Leu) c.770T>C (p.Ile257Thr) n.340T>C n.845T>C | |
5 | g.34005819A>T | CA359383827 | AMACR,C1QTNF3-AMACR | c.328T>A (p.Phe110Ile) c.770T>A (p.Ile257Asn) n.340T>A n.845T>A | |
5 | g.34005820T>A | CA443872163 | AMACR,C1QTNF3-AMACR | c.327A>T (p.Gly109=) c.769A>T (p.Ile257Phe) n.339A>T n.844A>T | |
5 | g.34005820T>C | CA443872164 | AMACR,C1QTNF3-AMACR | c.327A>G (p.Gly109=) c.769A>G (p.Ile257Val) n.339A>G n.844A>G | |
5 | g.34005820T>G | CA443872165 | AMACR,C1QTNF3-AMACR | c.327A>C (p.Gly109=) c.769A>C (p.Ile257Leu) n.339A>C n.844A>C | |
5 | g.34005821C>A | CA359383828 | AMACR,C1QTNF3-AMACR | c.326G>T (p.Gly109Val) c.768G>T (p.Trp256Cys) n.338G>T n.843G>T | |
5 | g.34005821C>G | CA359383829 | AMACR,C1QTNF3-AMACR | c.326G>C (p.Gly109Ala) c.768G>C (p.Trp256Cys) n.338G>C n.843G>C | |
5 | g.34005821C>T | CA359383832 | AMACR,C1QTNF3-AMACR | c.326G>A (p.Gly109Glu) c.768G>A (p.Trp256Ter) n.338G>A n.843G>A | |
5 | g.34005822C>A | CA359383837 | AMACR,C1QTNF3-AMACR | c.325G>T (p.Gly109Ter) c.767G>T (p.Trp256Leu) n.337G>T n.842G>T | |
5 | g.34005822C>G | CA359383833 | AMACR,C1QTNF3-AMACR | c.325G>C (p.Gly109Arg) c.767G>C (p.Trp256Ser) n.337G>C n.842G>C | |
5 | g.34005822C>T | CA359383835 | AMACR,C1QTNF3-AMACR | c.325G>A (p.Gly109Arg) c.767G>A (p.Trp256Ter) n.337G>A n.842G>A | |
5 | g.34005823A= | CA1538247281 | AMACR,C1QTNF3-AMACR | c.324T= (p.Ser108=) c.766T= (p.Trp256=) n.336T= n.841T= | |
5 | g.34005823A>C | CA359383839 | AMACR,C1QTNF3-AMACR | c.324T>G (p.Ser108Arg) c.766T>G (p.Trp256Gly) n.336T>G n.841T>G | |
5 | g.34005823A>G | CA443872169 | AMACR,C1QTNF3-AMACR | c.324T>C (p.Ser108=) c.766T>C (p.Trp256Arg) n.336T>C n.841T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.34005823A>T | CA3226241 | AMACR,C1QTNF3-AMACR | c.324T>A (p.Ser108Arg) c.766T>A (p.Trp256Arg) n.336T>A n.841T>A | dbSNP ExAC gnomAD v4 |
5 | g.34005824C>A | CA359383842 | AMACR,C1QTNF3-AMACR | c.323G>T (p.Ser108Ile) c.765G>T (p.Glu255Asp) n.335G>T n.840G>T | |
5 | g.34005824C= | CA1538247284 | AMACR,C1QTNF3-AMACR | c.323G= (p.Ser108=) c.765G= (p.Glu255=) n.335G= n.840G= | |
5 | g.34005824C>G | CA116870936 | AMACR,C1QTNF3-AMACR | c.323G>C (p.Ser108Thr) c.765G>C (p.Glu255Asp) n.335G>C n.840G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.34005824C>T | CA359383843 | AMACR,C1QTNF3-AMACR | c.323G>A (p.Ser108Asn) c.765G>A (p.Glu255=) n.335G>A n.840G>A | |
5 | g.34005825T>A | CA359383847 | AMACR,C1QTNF3-AMACR | c.322A>T (p.Ser108Cys) c.764A>T (p.Glu255Val) n.334A>T n.839A>T | gnomAD v4 |
5 | g.34005825T>C | CA359383844 | AMACR,C1QTNF3-AMACR | c.322A>G (p.Ser108Gly) c.764A>G (p.Glu255Gly) n.334A>G n.839A>G | |
5 | g.34005825T>G | CA359383845 | AMACR,C1QTNF3-AMACR | c.322A>C (p.Ser108Arg) c.764A>C (p.Glu255Ala) n.334A>C n.839A>C | |
5 | g.34005826C>A | CA443872172 | AMACR,C1QTNF3-AMACR | c.321G>T (p.Leu107=) c.763G>T (p.Glu255Ter) n.333G>T n.838G>T | gnomAD v4 |
5 | g.34005826C= | CA1538247288 | AMACR,C1QTNF3-AMACR | c.321G= (p.Leu107=) c.763G= (p.Glu255=) n.333G= n.838G= | |
5 | g.34005826C>G | CA443872174 | AMACR,C1QTNF3-AMACR | c.321G>C (p.Leu107=) c.763G>C (p.Glu255Gln) n.333G>C n.838G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.34005826C>T | CA443872175 | AMACR,C1QTNF3-AMACR | c.321G>A (p.Leu107=) c.763G>A (p.Glu255Lys) n.333G>A n.838G>A | |
5 | g.34005827A= | CA1538247294 | AMACR,C1QTNF3-AMACR | c.320T= (p.Leu107=) c.762T= (p.Ala254=) n.332T= n.837T= | |
5 | g.34005827A>C | CA359383849 | AMACR,C1QTNF3-AMACR | c.320T>G (p.Leu107Arg) c.762T>G (p.Ala254=) n.332T>G n.837T>G | gnomAD v4 |
5 | g.34005827A>G | CA117566 | AMACR,C1QTNF3-AMACR | c.320T>C (p.Leu107Pro) c.762T>C (p.Ala254=) n.332T>C n.837T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.34005827A>T | CA359383852 | AMACR,C1QTNF3-AMACR | c.320T>A (p.Leu107Gln) c.762T>A (p.Ala254=) n.332T>A n.837T>A |