Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.77098287C>A | CA353574206 | ROBO2 | c.335C>A (p.Ala112Glu) c.383C>A (p.Ala128Glu) c.404C>A (p.Ala135Glu) c.-1584C>A (n.-1584C>A) | |
3 | g.77098287C= | CA1376513231 | ROBO2 | c.335C= (p.Ala112=) c.383C= (p.Ala128=) c.404C= (p.Ala135=) c.-1584C= (n.-1584C=) | |
3 | g.77098287C>G | CA2496689 | ROBO2 | c.335C>G (p.Ala112Gly) c.383C>G (p.Ala128Gly) c.404C>G (p.Ala135Gly) c.-1584C>G (n.-1584C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77098287C>T | CA2496688 | ROBO2 | c.335C>T (p.Ala112Val) c.383C>T (p.Ala128Val) c.404C>T (p.Ala135Val) c.-1584C>T (n.-1584C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77098288G>A | CA434623580 | ROBO2 | c.336G>A (p.Ala112=) c.384G>A (p.Ala128=) c.405G>A (p.Ala135=) c.-1583G>A (n.-1583G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77098288G>C | CA434623581 | ROBO2 | c.336G>C (p.Ala112=) c.384G>C (p.Ala128=) c.405G>C (p.Ala135=) c.-1583G>C (n.-1583G>C) | |
3 | g.77098288G= | CA1376513232 | ROBO2 | c.336G= (p.Ala112=) c.384G= (p.Ala128=) c.405G= (p.Ala135=) c.-1583G= (n.-1583G=) | |
3 | g.77098288G>T | CA434623582 | ROBO2 | c.336G>T (p.Ala112=) c.384G>T (p.Ala128=) c.405G>T (p.Ala135=) c.-1583G>T (n.-1583G>T) | |
3 | g.77098289A>C | CA434623583 | ROBO2 | c.337A>C (p.Arg113=) c.385A>C (p.Arg129=) c.406A>C (p.Arg136=) c.-1582A>C (n.-1582A>C) | |
3 | g.77098289A>G | CA353574207 | ROBO2 | c.337A>G (p.Arg113Gly) c.385A>G (p.Arg129Gly) c.406A>G (p.Arg136Gly) c.-1582A>G (n.-1582A>G) | |
3 | g.77098289A>T | CA353574208 | ROBO2 | c.337A>T (p.Arg113Trp) c.385A>T (p.Arg129Trp) c.406A>T (p.Arg136Trp) c.-1582A>T (n.-1582A>T) | |
3 | g.77098290G>A | CA353574209 | ROBO2 | c.338G>A (p.Arg113Lys) c.386G>A (p.Arg129Lys) c.407G>A (p.Arg136Lys) c.-1581G>A (n.-1581G>A) | |
3 | g.77098290G>C | CA353574210 | ROBO2 | c.338G>C (p.Arg113Thr) c.386G>C (p.Arg129Thr) c.407G>C (p.Arg136Thr) c.-1581G>C (n.-1581G>C) | |
3 | g.77098290G>T | CA353574211 | ROBO2 | c.338G>T (p.Arg113Met) c.386G>T (p.Arg129Met) c.407G>T (p.Arg136Met) c.-1581G>T (n.-1581G>T) | |
3 | g.77098291G>A | CA2496691 | ROBO2 | c.339G>A (p.Arg113=) c.387G>A (p.Arg129=) c.408G>A (p.Arg136=) c.-1580G>A (n.-1580G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77098291G>C | CA353574212 | ROBO2 | c.339G>C (p.Arg113Ser) c.387G>C (p.Arg129Ser) c.408G>C (p.Arg136Ser) c.-1580G>C (n.-1580G>C) | |
3 | g.77098291G= | CA1376513233 | ROBO2 | c.339G= (p.Arg113=) c.387G= (p.Arg129=) c.408G= (p.Arg136=) c.-1580G= (n.-1580G=) | |
3 | g.77098291G>T | CA2496690 | ROBO2 | c.339G>T (p.Arg113Ser) c.387G>T (p.Arg129Ser) c.408G>T (p.Arg136Ser) c.-1580G>T (n.-1580G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77098292A>C | CA353574213 | ROBO2 | c.340A>C (p.Asn114His) c.388A>C (p.Asn130His) c.409A>C (p.Asn137His) c.-1579A>C (n.-1579A>C) | |
3 | g.77098292A>G | CA353574214 | ROBO2 | c.340A>G (p.Asn114Asp) c.388A>G (p.Asn130Asp) c.409A>G (p.Asn137Asp) c.-1579A>G (n.-1579A>G) | |
3 | g.77098292A>T | CA353574215 | ROBO2 | c.340A>T (p.Asn114Tyr) c.388A>T (p.Asn130Tyr) c.409A>T (p.Asn137Tyr) c.-1579A>T (n.-1579A>T) | |
3 | g.77098293A= | CA1376513234 | ROBO2 | c.341A= (p.Asn114=) c.389A= (p.Asn130=) c.410A= (p.Asn137=) c.-1578A= (n.-1578A=) | |
3 | g.77098293A>C | CA353574216 | ROBO2 | c.341A>C (p.Asn114Thr) c.389A>C (p.Asn130Thr) c.410A>C (p.Asn137Thr) c.-1578A>C (n.-1578A>C) | |
3 | g.77098293A>G | CA2496692 | ROBO2 | c.341A>G (p.Asn114Ser) c.389A>G (p.Asn130Ser) c.410A>G (p.Asn137Ser) c.-1578A>G (n.-1578A>G) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.77098293A>T | CA353574217 | ROBO2 | c.341A>T (p.Asn114Ile) c.389A>T (p.Asn130Ile) c.410A>T (p.Asn137Ile) c.-1578A>T (n.-1578A>T) | |
3 | g.77098294C>A | CA353574218 | ROBO2 | c.342C>A (p.Asn114Lys) c.390C>A (p.Asn130Lys) c.411C>A (p.Asn137Lys) c.-1577C>A (n.-1577C>A) | |
3 | g.77098294C= | CA1376513235 | ROBO2 | c.342C= (p.Asn114=) c.390C= (p.Asn130=) c.411C= (p.Asn137=) c.-1577C= (n.-1577C=) | |
3 | g.77098294C>G | CA353574219 | ROBO2 | c.342C>G (p.Asn114Lys) c.390C>G (p.Asn130Lys) c.411C>G (p.Asn137Lys) c.-1577C>G (n.-1577C>G) | |
3 | g.77098294C>T | CA77963887 | ROBO2 | c.342C>T (p.Asn114=) c.390C>T (p.Asn130=) c.411C>T (p.Asn137=) c.-1577C>T (n.-1577C>T) | dbSNP |
3 | g.77098295T>A | CA353574220 | ROBO2 | c.343T>A (p.Tyr115Asn) c.391T>A (p.Tyr131Asn) c.412T>A (p.Tyr138Asn) c.-1576T>A (n.-1576T>A) | dbSNP gnomAD v4 |
3 | g.77098295T>C | CA2496693 | ROBO2 | c.343T>C (p.Tyr115His) c.391T>C (p.Tyr131His) c.412T>C (p.Tyr138His) c.-1576T>C (n.-1576T>C) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.77098295T>G | CA353574221 | ROBO2 | c.343T>G (p.Tyr115Asp) c.391T>G (p.Tyr131Asp) c.412T>G (p.Tyr138Asp) c.-1576T>G (n.-1576T>G) | |
3 | g.77098295T= | CA1376513236 | ROBO2 | c.343T= (p.Tyr115=) c.391T= (p.Tyr131=) c.412T= (p.Tyr138=) c.-1576T= (n.-1576T=) | |
3 | g.77098296A>C | CA353574223 | ROBO2 | c.344A>C (p.Tyr115Ser) c.392A>C (p.Tyr131Ser) c.413A>C (p.Tyr138Ser) c.-1575A>C (n.-1575A>C) | |
3 | g.77098296A>G | CA353574224 | ROBO2 | c.344A>G (p.Tyr115Cys) c.392A>G (p.Tyr131Cys) c.413A>G (p.Tyr138Cys) c.-1575A>G (n.-1575A>G) | |
3 | g.77098296A>T | CA353574222 | ROBO2 | c.344A>T (p.Tyr115Phe) c.392A>T (p.Tyr131Phe) c.413A>T (p.Tyr138Phe) c.-1575A>T (n.-1575A>T) | |
3 | g.77098297T>A | CA353574225 | ROBO2 | c.345T>A (p.Tyr115Ter) c.393T>A (p.Tyr131Ter) c.414T>A (p.Tyr138Ter) c.-1574T>A (n.-1574T>A) | |
3 | g.77098297T>C | CA434623584 | ROBO2 | c.345T>C (p.Tyr115=) c.393T>C (p.Tyr131=) c.414T>C (p.Tyr138=) c.-1574T>C (n.-1574T>C) | |
3 | g.77098297T>G | CA353574226 | ROBO2 | c.345T>G (p.Tyr115Ter) c.393T>G (p.Tyr131Ter) c.414T>G (p.Tyr138Ter) c.-1574T>G (n.-1574T>G) | |
3 | g.77098298C>A | CA353574227 | ROBO2 | c.346C>A (p.Leu116Ile) c.394C>A (p.Leu132Ile) c.415C>A (p.Leu139Ile) c.-1573C>A (n.-1573C>A) | |
3 | g.77098298C= | CA1376513237 | ROBO2 | c.346C= (p.Leu116=) c.394C= (p.Leu132=) c.415C= (p.Leu139=) c.-1573C= (n.-1573C=) | |
3 | g.77098298C>G | CA353574228 | ROBO2 | c.346C>G (p.Leu116Val) c.394C>G (p.Leu132Val) c.415C>G (p.Leu139Val) c.-1573C>G (n.-1573C>G) | |
3 | g.77098298C>T | CA2496694 | ROBO2 | c.346C>T (p.Leu116Phe) c.394C>T (p.Leu132Phe) c.415C>T (p.Leu139Phe) c.-1573C>T (n.-1573C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77098299T>A | CA353574231 | ROBO2 | c.347T>A (p.Leu116His) c.395T>A (p.Leu132His) c.416T>A (p.Leu139His) c.-1572T>A (n.-1572T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77098299T>C | CA353574230 | ROBO2 | c.347T>C (p.Leu116Pro) c.395T>C (p.Leu132Pro) c.416T>C (p.Leu139Pro) c.-1572T>C (n.-1572T>C) | |
3 | g.77098299T>G | CA353574229 | ROBO2 | c.347T>G (p.Leu116Arg) c.395T>G (p.Leu132Arg) c.416T>G (p.Leu139Arg) c.-1572T>G (n.-1572T>G) | |
3 | g.77098299T= | CA1376513238 | ROBO2 | c.347T= (p.Leu116=) c.395T= (p.Leu132=) c.416T= (p.Leu139=) c.-1572T= (n.-1572T=) | |
3 | g.77098300T>A | CA434623585 | ROBO2 | c.348T>A (p.Leu116=) c.396T>A (p.Leu132=) c.417T>A (p.Leu139=) c.-1571T>A (n.-1571T>A) | |
3 | g.77098300T>C | CA434623586 | ROBO2 | c.348T>C (p.Leu116=) c.396T>C (p.Leu132=) c.417T>C (p.Leu139=) c.-1571T>C (n.-1571T>C) | gnomAD v4 |
3 | g.77098300T>G | CA434623587 | ROBO2 | c.348T>G (p.Leu116=) c.396T>G (p.Leu132=) c.417T>G (p.Leu139=) c.-1571T>G (n.-1571T>G) |