UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.97611488T>C | CA212683179 | HOGA1 | c.835-22T>C (n.835-22T>C) c.346-22T>C (n.346-22T>C) c.345+9498T>C (n.345+9498T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611488T= | CA1930506956 | HOGA1 | c.835-22T= (n.835-22T=) c.346-22T= (n.346-22T=) c.345+9498T= (n.345+9498T=) | |
| 10 | g.97611489_97611490insAA | CA2574692848 | HOGA1 | c.835-21_835-20insAA (n.835-21_835-20insAA) c.346-21_346-20insAA (n.346-21_346-20insAA) c.345+9499_345+9500insAA (n.345+9499_345+9500insAA) | |
| 10 | g.97611490T>A | CA2574692849 | HOGA1 | c.835-20T>A (n.835-20T>A) c.346-20T>A (n.346-20T>A) c.345+9500T>A (n.345+9500T>A) | ClinVar |
| 10 | g.97611490T>C | CA2610415304 | HOGA1 | c.835-20T>C (n.835-20T>C) c.346-20T>C (n.346-20T>C) c.345+9500T>C (n.345+9500T>C) | gnomAD v4 |
| 10 | g.97611491A>G | CA2610415306 | HOGA1 | c.835-19A>G (n.835-19A>G) c.346-19A>G (n.346-19A>G) c.345+9501A>G (n.345+9501A>G) | gnomAD v4 |
| 10 | g.97611493C>G | CA2574692850 | HOGA1 | c.835-17C>G (n.835-17C>G) c.346-17C>G (n.346-17C>G) c.345+9503C>G (n.345+9503C>G) | |
| 10 | g.97611497C>A | CA2610415308 | HOGA1 | c.835-13C>A (n.835-13C>A) c.346-13C>A (n.346-13C>A) c.345+9507C>A (n.345+9507C>A) | gnomAD v4 |
| 10 | g.97611497C>T | CA2574692851 | HOGA1 | c.835-13C>T (n.835-13C>T) c.346-13C>T (n.346-13C>T) c.345+9507C>T (n.345+9507C>T) | |
| 10 | g.97611498C= | CA1930506958 | HOGA1 | c.835-12C= (n.835-12C=) c.346-12C= (n.346-12C=) c.345+9508C= (n.345+9508C=) | |
| 10 | g.97611498C>T | CA670425709 | HOGA1 | c.835-12C>T (n.835-12C>T) c.346-12C>T (n.346-12C>T) c.345+9508C>T (n.345+9508C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611500T>C | CA2610415309 | HOGA1 | c.835-10T>C (n.835-10T>C) c.346-10T>C (n.346-10T>C) c.345+9510T>C (n.345+9510T>C) | gnomAD v4 |
| 10 | g.97611501G>A | CA931587743 | HOGA1 | c.835-9G>A (n.835-9G>A) c.346-9G>A (n.346-9G>A) c.345+9511G>A (n.345+9511G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611501G= | CA1930506959 | HOGA1 | c.835-9G= (n.835-9G=) c.346-9G= (n.346-9G=) c.345+9511G= (n.345+9511G=) | |
| 10 | g.97611502C>G | CA2610415310 | HOGA1 | c.835-8C>G (n.835-8C>G) c.346-8C>G (n.346-8C>G) c.345+9512C>G (n.345+9512C>G) | gnomAD v4 |
| 10 | g.97611503T>A | CA595409821 | HOGA1 | c.835-7T>A (n.835-7T>A) c.346-7T>A (n.346-7T>A) c.345+9513T>A (n.345+9513T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611503T>G | CA5634289 | HOGA1 | c.835-7T>G (n.835-7T>G) c.346-7T>G (n.346-7T>G) c.345+9513T>G (n.345+9513T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611503T= | CA1930506961 | HOGA1 | c.835-7T= (n.835-7T=) c.346-7T= (n.346-7T=) c.345+9513T= (n.345+9513T=) | |
| 10 | g.97611505T>C | CA2574692852 | HOGA1 | c.835-5T>C (n.835-5T>C) c.346-5T>C (n.346-5T>C) c.345+9515T>C (n.345+9515T>C) | |
| 10 | g.97611505T>G | CA2610415314 | HOGA1 | c.835-5T>G (n.835-5T>G) c.346-5T>G (n.346-5T>G) c.345+9515T>G (n.345+9515T>G) | gnomAD v4 |
| 10 | g.97611508A>C | CA377983195 | HOGA1 | c.835-2A>C (n.835-2A>C) c.346-2A>C (n.346-2A>C) c.345+9518A>C (n.345+9518A>C) | |
| 10 | g.97611508A>G | CA377983196 | HOGA1 | c.835-2A>G (n.835-2A>G) c.346-2A>G (n.346-2A>G) c.345+9518A>G (n.345+9518A>G) | |
| 10 | g.97611508A>T | CA377983197 | HOGA1 | c.835-2A>T (n.835-2A>T) c.346-2A>T (n.346-2A>T) c.345+9518A>T (n.345+9518A>T) | |
| 10 | g.97611509G>A | CA377983200 | HOGA1 | c.835-1G>A (n.835-1G>A) c.346-1G>A (n.346-1G>A) c.345+9519G>A (n.345+9519G>A) | |
| 10 | g.97611509G>C | CA377983199 | HOGA1 | c.835-1G>C (n.835-1G>C) c.346-1G>C (n.346-1G>C) c.345+9519G>C (n.345+9519G>C) | |
| 10 | g.97611509G>T | CA377983198 | HOGA1 | c.835-1G>T (n.835-1G>T) c.346-1G>T (n.346-1G>T) c.345+9519G>T (n.345+9519G>T) | |
| 10 | g.97611510G>A | CA377983201 | HOGA1 | c.835G>A (p.Val279Met) c.346G>A (p.Val116Met) c.345+9520G>A (n.345+9520G>A) | gnomAD v4 |
| 10 | g.97611510G>C | CA377983202 | HOGA1 | c.835G>C (p.Val279Leu) c.346G>C (p.Val116Leu) c.345+9520G>C (n.345+9520G>C) | |
| 10 | g.97611510G>T | CA377983203 | HOGA1 | c.835G>T (p.Val279Leu) c.346G>T (p.Val116Leu) c.345+9520G>T (n.345+9520G>T) | |
| 10 | g.97611511T>A | CA377983204 | HOGA1 | c.836T>A (p.Val279Glu) c.347T>A (p.Val116Glu) c.345+9521T>A (n.345+9521T>A) | |
| 10 | g.97611511T>C | CA377983205 | HOGA1 | c.836T>C (p.Val279Ala) c.347T>C (p.Val116Ala) c.345+9521T>C (n.345+9521T>C) | |
| 10 | g.97611511T>G | CA377983206 | HOGA1 | c.836T>G (p.Val279Gly) c.347T>G (p.Val116Gly) c.345+9521T>G (n.345+9521T>G) | |
| 10 | g.97611512G>A | CA5634290 | HOGA1 | c.837G>A (p.Val279=) c.348G>A (p.Val116=) c.345+9522G>A (n.345+9522G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611512G>C | CA471092701 | HOGA1 | c.837G>C (p.Val279=) c.348G>C (p.Val116=) c.345+9522G>C (n.345+9522G>C) | |
| 10 | g.97611512G= | CA1930506963 | HOGA1 | c.837G= (p.Val279=) c.348G= (p.Val116=) c.345+9522G= (n.345+9522G=) | |
| 10 | g.97611512G>T | CA471092702 | HOGA1 | c.837G>T (p.Val279=) c.348G>T (p.Val116=) c.345+9522G>T (n.345+9522G>T) | |
| 10 | g.97611513A>C | CA377983207 | HOGA1 | c.838A>C (p.Thr280Pro) c.349A>C (p.Thr117Pro) c.345+9523A>C (n.345+9523A>C) | |
| 10 | g.97611513A>G | CA377983208 | HOGA1 | c.838A>G (p.Thr280Ala) c.349A>G (p.Thr117Ala) c.345+9523A>G (n.345+9523A>G) | |
| 10 | g.97611513A>T | CA377983209 | HOGA1 | c.838A>T (p.Thr280Ser) c.349A>T (p.Thr117Ser) c.345+9523A>T (n.345+9523A>T) | |
| 10 | g.97611514C>A | CA377983210 | HOGA1 | c.839C>A (p.Thr280Asn) c.350C>A (p.Thr117Asn) c.345+9524C>A (n.345+9524C>A) | |
| 10 | g.97611514C= | CA1930506964 | HOGA1 | c.839C= (p.Thr280=) c.350C= (p.Thr117=) c.345+9524C= (n.345+9524C=) | |
| 10 | g.97611514C>G | CA5634291 | HOGA1 | c.839C>G (p.Thr280Ser) c.350C>G (p.Thr117Ser) c.345+9524C>G (n.345+9524C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611514C>T | CA203964 | HOGA1 | c.839C>T (p.Thr280Ile) c.350C>T (p.Thr117Ile) c.345+9524C>T (n.345+9524C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611515C>A | CA471092704 | HOGA1 | c.840C>A (p.Thr280=) c.351C>A (p.Thr117=) c.345+9525C>A (n.345+9525C>A) | |
| 10 | g.97611515C>G | CA471092705 | HOGA1 | c.840C>G (p.Thr280=) c.351C>G (p.Thr117=) c.345+9525C>G (n.345+9525C>G) | |
| 10 | g.97611515C>T | CA471092706 | HOGA1 | c.840C>T (p.Thr280=) c.351C>T (p.Thr117=) c.345+9525C>T (n.345+9525C>T) | |
| 10 | g.97611516C>A | CA471092707 | HOGA1 | c.841C>A (p.Arg281=) c.352C>A (p.Arg118=) c.345+9526C>A (n.345+9526C>A) | |
| 10 | g.97611516C= | CA1930506967 | HOGA1 | c.841C= (p.Arg281=) c.352C= (p.Arg118=) c.345+9526C= (n.345+9526C=) | |
| 10 | g.97611516C>G | CA377983211 | HOGA1 | c.841C>G (p.Arg281Gly) c.352C>G (p.Arg118Gly) c.345+9526C>G (n.345+9526C>G) | gnomAD v4 COSMIC |
| 10 | g.97611516C>T | CA5634292 | HOGA1 | c.841C>T (p.Arg281Trp) c.352C>T (p.Arg118Trp) c.345+9526C>T (n.345+9526C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611517G>A | CA5634293 | HOGA1 | c.842G>A (p.Arg281Gln) c.353G>A (p.Arg118Gln) c.345+9527G>A (n.345+9527G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611517G>C | CA377983213 | HOGA1 | c.842G>C (p.Arg281Pro) c.353G>C (p.Arg118Pro) c.345+9527G>C (n.345+9527G>C) | |
| 10 | g.97611517G= | CA1930506969 | HOGA1 | c.842G= (p.Arg281=) c.353G= (p.Arg118=) c.345+9527G= (n.345+9527G=) | |
| 10 | g.97611517G>T | CA377983212 | HOGA1 | c.842G>T (p.Arg281Leu) c.353G>T (p.Arg118Leu) c.345+9527G>T (n.345+9527G>T) | |
| 10 | g.97611518G>A | CA471092710 | HOGA1 | c.843G>A (p.Arg281=) c.354G>A (p.Arg118=) c.345+9528G>A (n.345+9528G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611518G>C | CA471092708 | HOGA1 | c.843G>C (p.Arg281=) c.354G>C (p.Arg118=) c.345+9528G>C (n.345+9528G>C) | |
| 10 | g.97611518G= | CA1930506971 | HOGA1 | c.843G= (p.Arg281=) c.354G= (p.Arg118=) c.345+9528G= (n.345+9528G=) | |
| 10 | g.97611518G>T | CA471092709 | HOGA1 | c.843G>T (p.Arg281=) c.354G>T (p.Arg118=) c.345+9528G>T (n.345+9528G>T) | |
| 10 | g.97611519C>A | CA5634294 | HOGA1 | c.844C>A (p.Arg282Ser) c.355C>A (p.Arg119Ser) c.345+9529C>A (n.345+9529C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611519C= | CA1930506973 | HOGA1 | c.844C= (p.Arg282=) c.355C= (p.Arg119=) c.345+9529C= (n.345+9529C=) | |
| 10 | g.97611519C>G | CA377983215 | HOGA1 | c.844C>G (p.Arg282Gly) c.355C>G (p.Arg119Gly) c.345+9529C>G (n.345+9529C>G) | |
| 10 | g.97611519C>T | CA377983214 | HOGA1 | c.844C>T (p.Arg282Cys) c.355C>T (p.Arg119Cys) c.345+9529C>T (n.345+9529C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.97611520G>A | CA5634295 | HOGA1 | c.845G>A (p.Arg282His) c.356G>A (p.Arg119His) c.345+9530G>A (n.345+9530G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.97611520G>C | CA377983216 | HOGA1 | c.845G>C (p.Arg282Pro) c.356G>C (p.Arg119Pro) c.345+9530G>C (n.345+9530G>C) | |
| 10 | g.97611520G= | CA1930506977 | HOGA1 | c.845G= (p.Arg282=) c.356G= (p.Arg119=) c.345+9530G= (n.345+9530G=) | |
| 10 | g.97611520G>T | CA377983217 | HOGA1 | c.845G>T (p.Arg282Leu) c.356G>T (p.Arg119Leu) c.345+9530G>T (n.345+9530G>T) | gnomAD v4 |
| 10 | g.97611521C>A | CA471092712 | HOGA1 | c.846C>A (p.Arg282=) c.357C>A (p.Arg119=) c.345+9531C>A (n.345+9531C>A) | |
| 10 | g.97611521C= | CA1930506980 | HOGA1 | c.846C= (p.Arg282=) c.357C= (p.Arg119=) c.345+9531C= (n.345+9531C=) | |
| 10 | g.97611521C>G | CA471092713 | HOGA1 | c.846C>G (p.Arg282=) c.357C>G (p.Arg119=) c.345+9531C>G (n.345+9531C>G) | |
| 10 | g.97611521C>T | CA5634296 | HOGA1 | c.846C>T (p.Arg282=) c.357C>T (p.Arg119=) c.345+9531C>T (n.345+9531C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611522T>A | CA377983218 | HOGA1 | c.847T>A (p.Phe283Ile) c.358T>A (p.Phe120Ile) c.345+9532T>A (n.345+9532T>A) | |
| 10 | g.97611522T>C | CA377983219 | HOGA1 | c.847T>C (p.Phe283Leu) c.358T>C (p.Phe120Leu) c.345+9532T>C (n.345+9532T>C) | |
| 10 | g.97611522T>G | CA377983220 | HOGA1 | c.847T>G (p.Phe283Val) c.358T>G (p.Phe120Val) c.345+9532T>G (n.345+9532T>G) | |
| 10 | g.97611523T>A | CA377983223 | HOGA1 | c.848T>A (p.Phe283Tyr) c.359T>A (p.Phe120Tyr) c.345+9533T>A (n.345+9533T>A) | |
| 10 | g.97611523T>C | CA377983221 | HOGA1 | c.848T>C (p.Phe283Ser) c.359T>C (p.Phe120Ser) c.345+9533T>C (n.345+9533T>C) | |
| 10 | g.97611523T>G | CA377983222 | HOGA1 | c.848T>G (p.Phe283Cys) c.359T>G (p.Phe120Cys) c.345+9533T>G (n.345+9533T>G) | |
| 10 | g.97611524T>A | CA377983224 | HOGA1 | c.849T>A (p.Phe283Leu) c.360T>A (p.Phe120Leu) c.345+9534T>A (n.345+9534T>A) | |
| 10 | g.97611524T>C | CA471092718 | HOGA1 | c.849T>C (p.Phe283=) c.360T>C (p.Phe120=) c.345+9534T>C (n.345+9534T>C) | gnomAD v4 |
| 10 | g.97611524T>G | CA377983225 | HOGA1 | c.849T>G (p.Phe283Leu) c.360T>G (p.Phe120Leu) c.345+9534T>G (n.345+9534T>G) | |
| 10 | g.97611524_97611525insAGA | CA2789141881 | HOGA1 | c.849_850insAGA (p.Phe283_Gly284insArg) c.360_361insAGA (p.Phe120_Gly121insArg) c.345+9534_345+9535insAGA (n.345+9534_345+9535insAGA) | |
| 10 | g.97611525G>A | CA377983226 | HOGA1 | c.850G>A (p.Gly284Arg) c.361G>A (p.Gly121Arg) c.345+9535G>A (n.345+9535G>A) | |
| 10 | g.97611525G>C | CA377983227 | HOGA1 | c.850G>C (p.Gly284Arg) c.361G>C (p.Gly121Arg) c.345+9535G>C (n.345+9535G>C) | |
| 10 | g.97611525G>T | CA377983229 | HOGA1 | c.850G>T (p.Gly284Trp) c.361G>T (p.Gly121Trp) c.345+9535G>T (n.345+9535G>T) | |
| 10 | g.97611526G>A | CA377983232 | HOGA1 | c.851G>A (p.Gly284Glu) c.362G>A (p.Gly121Glu) c.345+9536G>A (n.345+9536G>A) | |
| 10 | g.97611526G>C | CA377983236 | HOGA1 | c.851G>C (p.Gly284Ala) c.362G>C (p.Gly121Ala) c.345+9536G>C (n.345+9536G>C) | |
| 10 | g.97611526G>T | CA377983234 | HOGA1 | c.851G>T (p.Gly284Val) c.362G>T (p.Gly121Val) c.345+9536G>T (n.345+9536G>T) | |
| 10 | g.97611527G>A | CA471092719 | HOGA1 | c.852G>A (p.Gly284=) c.363G>A (p.Gly121=) c.345+9537G>A (n.345+9537G>A) | |
| 10 | g.97611527G>C | CA5634297 | HOGA1 | c.852G>C (p.Gly284=) c.363G>C (p.Gly121=) c.345+9537G>C (n.345+9537G>C) | dbSNP ExAC gnomAD v2 |
| 10 | g.97611527G= | CA1930506983 | HOGA1 | c.852G= (p.Gly284=) c.363G= (p.Gly121=) c.345+9537G= (n.345+9537G=) | |
| 10 | g.97611527G>T | CA471092720 | HOGA1 | c.852G>T (p.Gly284=) c.363G>T (p.Gly121=) c.345+9537G>T (n.345+9537G>T) | |
| 10 | g.97611528A>C | CA377983240 | HOGA1 | c.853A>C (p.Ile285Leu) c.364A>C (p.Ile122Leu) c.345+9538A>C (n.345+9538A>C) | |
| 10 | g.97611528A>G | CA377983243 | HOGA1 | c.853A>G (p.Ile285Val) c.364A>G (p.Ile122Val) c.345+9538A>G (n.345+9538A>G) | COSMIC |
| 10 | g.97611528A>T | CA377983245 | HOGA1 | c.853A>T (p.Ile285Phe) c.364A>T (p.Ile122Phe) c.345+9538A>T (n.345+9538A>T) | |
| 10 | g.97611529T>A | CA377983248 | HOGA1 | c.854T>A (p.Ile285Asn) c.365T>A (p.Ile122Asn) c.345+9539T>A (n.345+9539T>A) | |
| 10 | g.97611529T>C | CA377983251 | HOGA1 | c.854T>C (p.Ile285Thr) c.365T>C (p.Ile122Thr) c.345+9539T>C (n.345+9539T>C) | |
| 10 | g.97611529T>G | CA377983253 | HOGA1 | c.854T>G (p.Ile285Ser) c.365T>G (p.Ile122Ser) c.345+9539T>G (n.345+9539T>G) | |
| 10 | g.97611530C>A | CA471092724 | HOGA1 | c.855C>A (p.Ile285=) c.366C>A (p.Ile122=) c.345+9540C>A (n.345+9540C>A) | dbSNP |
| 10 | g.97611530C>G | CA377983256 | HOGA1 | c.855C>G (p.Ile285Met) c.366C>G (p.Ile122Met) c.345+9540C>G (n.345+9540C>G) | |
| 10 | g.97611530C>T | CA471092725 | HOGA1 | c.855C>T (p.Ile285=) c.366C>T (p.Ile122=) c.345+9540C>T (n.345+9540C>T) | gnomAD v4 |
| 10 | g.97611531C>A | CA377983259 | HOGA1 | c.856C>A (p.Pro286Thr) c.367C>A (p.Pro123Thr) c.345+9541C>A (n.345+9541C>A) | |
| 10 | g.97611531C= | CA1930506984 | HOGA1 | c.856C= (p.Pro286=) c.367C= (p.Pro123=) c.345+9541C= (n.345+9541C=) | |
| 10 | g.97611531C>G | CA377983262 | HOGA1 | c.856C>G (p.Pro286Ala) c.367C>G (p.Pro123Ala) c.345+9541C>G (n.345+9541C>G) | |
| 10 | g.97611531C>T | CA5634298 | HOGA1 | c.856C>T (p.Pro286Ser) c.367C>T (p.Pro123Ser) c.345+9541C>T (n.345+9541C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611532C>A | CA377983266 | HOGA1 | c.857C>A (p.Pro286Gln) c.368C>A (p.Pro123Gln) c.345+9542C>A (n.345+9542C>A) | |
| 10 | g.97611532C>G | CA377983270 | HOGA1 | c.857C>G (p.Pro286Arg) c.368C>G (p.Pro123Arg) c.345+9542C>G (n.345+9542C>G) | |
| 10 | g.97611532C>T | CA377983268 | HOGA1 | c.857C>T (p.Pro286Leu) c.368C>T (p.Pro123Leu) c.345+9542C>T (n.345+9542C>T) | |
| 10 | g.97611533A>C | CA471092726 | HOGA1 | c.858A>C (p.Pro286=) c.369A>C (p.Pro123=) c.345+9543A>C (n.345+9543A>C) | |
| 10 | g.97611533A>G | CA471092727 | HOGA1 | c.858A>G (p.Pro286=) c.369A>G (p.Pro123=) c.345+9543A>G (n.345+9543A>G) | |
| 10 | g.97611533A>T | CA471092728 | HOGA1 | c.858A>T (p.Pro286=) c.369A>T (p.Pro123=) c.345+9543A>T (n.345+9543A>T) | |
| 10 | g.97611534G>A | CA377983272 | HOGA1 | c.859G>A (p.Gly287Arg) c.370G>A (p.Gly124Arg) c.345+9544G>A (n.345+9544G>A) | |
| 10 | g.97611534G>C | CA377983274 | HOGA1 | c.859G>C (p.Gly287Arg) c.370G>C (p.Gly124Arg) c.345+9544G>C (n.345+9544G>C) | |
| 10 | g.97611534G>T | CA377983276 | HOGA1 | c.859G>T (p.Gly287Trp) c.370G>T (p.Gly124Trp) c.345+9544G>T (n.345+9544G>T) | |
| 10 | g.97611535G>A | CA5634299 | HOGA1 | c.860G>A (p.Gly287Glu) c.371G>A (p.Gly124Glu) c.345+9545G>A (n.345+9545G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611535G>C | CA377983281 | HOGA1 | c.860G>C (p.Gly287Ala) c.371G>C (p.Gly124Ala) c.345+9545G>C (n.345+9545G>C) | |
| 10 | g.97611535G= | CA1930506989 | HOGA1 | c.860G= (p.Gly287=) c.371G= (p.Gly124=) c.345+9545G= (n.345+9545G=) | |
| 10 | g.97611535G>T | CA113813 | HOGA1 | c.860G>T (p.Gly287Val) c.371G>T (p.Gly124Val) c.345+9545G>T (n.345+9545G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611536G>A | CA5634300 | HOGA1 | c.861G>A (p.Gly287=) c.372G>A (p.Gly124=) c.345+9546G>A (n.345+9546G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611536G>C | CA471092733 | HOGA1 | c.861G>C (p.Gly287=) c.372G>C (p.Gly124=) c.345+9546G>C (n.345+9546G>C) | |
| 10 | g.97611536G= | CA1930506993 | HOGA1 | c.861G= (p.Gly287=) c.372G= (p.Gly124=) c.345+9546G= (n.345+9546G=) | |
| 10 | g.97611536G>T | CA471092734 | HOGA1 | c.861G>T (p.Gly287=) c.372G>T (p.Gly124=) c.345+9546G>T (n.345+9546G>T) | |
| 10 | g.97611537C>A | CA377983287 | HOGA1 | c.862C>A (p.Leu288Met) c.373C>A (p.Leu125Met) c.345+9547C>A (n.345+9547C>A) | |
| 10 | g.97611537C= | CA1930506995 | HOGA1 | c.862C= (p.Leu288=) c.373C= (p.Leu125=) c.345+9547C= (n.345+9547C=) | |
| 10 | g.97611537C>G | CA377983289 | HOGA1 | c.862C>G (p.Leu288Val) c.373C>G (p.Leu125Val) c.345+9547C>G (n.345+9547C>G) | |
| 10 | g.97611537C>T | CA471092735 | HOGA1 | c.862C>T (p.Leu288=) c.373C>T (p.Leu125=) c.345+9547C>T (n.345+9547C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611538T>A | CA377983291 | HOGA1 | c.863T>A (p.Leu288Gln) c.374T>A (p.Leu125Gln) c.345+9548T>A (n.345+9548T>A) | |
| 10 | g.97611538T>C | CA377983293 | HOGA1 | c.863T>C (p.Leu288Pro) c.374T>C (p.Leu125Pro) c.345+9548T>C (n.345+9548T>C) | |
| 10 | g.97611538T>G | CA377983296 | HOGA1 | c.863T>G (p.Leu288Arg) c.374T>G (p.Leu125Arg) c.345+9548T>G (n.345+9548T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611538T= | CA1930506997 | HOGA1 | c.863T= (p.Leu288=) c.374T= (p.Leu125=) c.345+9548T= (n.345+9548T=) | |
| 10 | g.97611539G>A | CA471092739 | HOGA1 | c.864G>A (p.Leu288=) c.375G>A (p.Leu125=) c.345+9549G>A (n.345+9549G>A) | |
| 10 | g.97611539G>C | CA471092740 | HOGA1 | c.864G>C (p.Leu288=) c.375G>C (p.Leu125=) c.345+9549G>C (n.345+9549G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611539G= | CA1930506999 | HOGA1 | c.864G= (p.Leu288=) c.375G= (p.Leu125=) c.345+9549G= (n.345+9549G=) | |
| 10 | g.97611539G>T | CA471092741 | HOGA1 | c.864G>T (p.Leu288=) c.375G>T (p.Leu125=) c.345+9549G>T (n.345+9549G>T) | |
| 10 | g.97611540A>C | CA377983304 | HOGA1 | c.865A>C (p.Lys289Gln) c.376A>C (p.Lys126Gln) c.345+9550A>C (n.345+9550A>C) | |
| 10 | g.97611540A>G | CA377983299 | HOGA1 | c.865A>G (p.Lys289Glu) c.376A>G (p.Lys126Glu) c.345+9550A>G (n.345+9550A>G) | |
| 10 | g.97611540A>T | CA377983301 | HOGA1 | c.865A>T (p.Lys289Ter) c.376A>T (p.Lys126Ter) c.345+9550A>T (n.345+9550A>T) | |
| 10 | g.97611541A>C | CA377983306 | HOGA1 | c.866A>C (p.Lys289Thr) c.377A>C (p.Lys126Thr) c.345+9551A>C (n.345+9551A>C) | |
| 10 | g.97611541A>G | CA377983309 | HOGA1 | c.866A>G (p.Lys289Arg) c.377A>G (p.Lys126Arg) c.345+9551A>G (n.345+9551A>G) | |
| 10 | g.97611541A>T | CA377983311 | HOGA1 | c.866A>T (p.Lys289Met) c.377A>T (p.Lys126Met) c.345+9551A>T (n.345+9551A>T) | |
| 10 | g.97611542G>A | CA471092745 | HOGA1 | c.867G>A (p.Lys289=) c.378G>A (p.Lys126=) c.345+9552G>A (n.345+9552G>A) | |
| 10 | g.97611542G>C | CA377983314 | HOGA1 | c.867G>C (p.Lys289Asn) c.378G>C (p.Lys126Asn) c.345+9552G>C (n.345+9552G>C) | |
| 10 | g.97611542G>T | CA377983315 | HOGA1 | c.867G>T (p.Lys289Asn) c.378G>T (p.Lys126Asn) c.345+9552G>T (n.345+9552G>T) | COSMIC |
| 10 | g.97611543A>C | CA377983318 | HOGA1 | c.868A>C (p.Lys290Gln) c.379A>C (p.Lys127Gln) c.345+9553A>C (n.345+9553A>C) | |
| 10 | g.97611543A>G | CA377983320 | HOGA1 | c.868A>G (p.Lys290Glu) c.379A>G (p.Lys127Glu) c.345+9553A>G (n.345+9553A>G) | |
| 10 | g.97611543A>T | CA377983322 | HOGA1 | c.868A>T (p.Lys290Ter) c.379A>T (p.Lys127Ter) c.345+9553A>T (n.345+9553A>T) | |
| 10 | g.97611546del | CA2610415435 | HOGA1 | c.871del (p.Ile291SerfsTer19) c.382del (p.Ile128SerfsTer19) c.345+9556del (n.345+9556del) | gnomAD v4 |
| 10 | g.97611544A>C | CA377983325 | HOGA1 | c.869A>C (p.Lys290Thr) c.380A>C (p.Lys127Thr) c.345+9554A>C (n.345+9554A>C) | |
| 10 | g.97611544A>G | CA377983327 | HOGA1 | c.869A>G (p.Lys290Arg) c.380A>G (p.Lys127Arg) c.345+9554A>G (n.345+9554A>G) | |
| 10 | g.97611544A>T | CA377983329 | HOGA1 | c.869A>T (p.Lys290Ile) c.380A>T (p.Lys127Ile) c.345+9554A>T (n.345+9554A>T) | |
| 10 | g.97611545A>C | CA377983334 | HOGA1 | c.870A>C (p.Lys290Asn) c.381A>C (p.Lys127Asn) c.345+9555A>C (n.345+9555A>C) | |
| 10 | g.97611545A>G | CA471092747 | HOGA1 | c.870A>G (p.Lys290=) c.381A>G (p.Lys127=) c.345+9555A>G (n.345+9555A>G) | gnomAD v4 |
| 10 | g.97611545A>T | CA377983332 | HOGA1 | c.870A>T (p.Lys290Asn) c.381A>T (p.Lys127Asn) c.345+9555A>T (n.345+9555A>T) | |
| 10 | g.97611546A>C | CA377983337 | HOGA1 | c.871A>C (p.Ile291Leu) c.382A>C (p.Ile128Leu) c.345+9556A>C (n.345+9556A>C) | |
| 10 | g.97611546A>G | CA377983339 | HOGA1 | c.871A>G (p.Ile291Val) c.382A>G (p.Ile128Val) c.345+9556A>G (n.345+9556A>G) | |
| 10 | g.97611546A>T | CA377983341 | HOGA1 | c.871A>T (p.Ile291Phe) c.382A>T (p.Ile128Phe) c.345+9556A>T (n.345+9556A>T) | |
| 10 | g.97611547T>A | CA377983344 | HOGA1 | c.872T>A (p.Ile291Asn) c.383T>A (p.Ile128Asn) c.345+9557T>A (n.345+9557T>A) | |
| 10 | g.97611547T>C | CA377983346 | HOGA1 | c.872T>C (p.Ile291Thr) c.383T>C (p.Ile128Thr) c.345+9557T>C (n.345+9557T>C) | ClinVar dbSNP |
| 10 | g.97611547T>G | CA377983349 | HOGA1 | c.872T>G (p.Ile291Ser) c.383T>G (p.Ile128Ser) c.345+9557T>G (n.345+9557T>G) | |
| 10 | g.97611547T= | CA1930507001 | HOGA1 | c.872T= (p.Ile291=) c.383T= (p.Ile128=) c.345+9557T= (n.345+9557T=) | |
| 10 | g.97611548C>A | CA471092749 | HOGA1 | c.873C>A (p.Ile291=) c.384C>A (p.Ile128=) c.345+9558C>A (n.345+9558C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611548C= | CA1930507005 | HOGA1 | c.873C= (p.Ile291=) c.384C= (p.Ile128=) c.345+9558C= (n.345+9558C=) | |
| 10 | g.97611548C>G | CA377983351 | HOGA1 | c.873C>G (p.Ile291Met) c.384C>G (p.Ile128Met) c.345+9558C>G (n.345+9558C>G) | |
| 10 | g.97611548C>T | CA471092750 | HOGA1 | c.873C>T (p.Ile291=) c.384C>T (p.Ile128=) c.345+9558C>T (n.345+9558C>T) | ClinVar |
| 10 | g.97611549A= | CA1930507007 | HOGA1 | c.874A= (p.Met292=) c.385A= (p.Met129=) c.345+9559A= (n.345+9559A=) | |
| 10 | g.97611549A>C | CA377983354 | HOGA1 | c.874A>C (p.Met292Leu) c.385A>C (p.Met129Leu) c.345+9559A>C (n.345+9559A>C) | |
| 10 | g.97611549A>G | CA377983356 | HOGA1 | c.874A>G (p.Met292Val) c.385A>G (p.Met129Val) c.345+9559A>G (n.345+9559A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611549A>T | CA377983359 | HOGA1 | c.874A>T (p.Met292Leu) c.385A>T (p.Met129Leu) c.345+9559A>T (n.345+9559A>T) | |
| 10 | g.97611550T>A | CA377983362 | HOGA1 | c.875T>A (p.Met292Lys) c.386T>A (p.Met129Lys) c.345+9560T>A (n.345+9560T>A) | |
| 10 | g.97611550T>C | CA203966 | HOGA1 | c.875T>C (p.Met292Thr) c.386T>C (p.Met129Thr) c.345+9560T>C (n.345+9560T>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.97611550T>G | CA377983366 | HOGA1 | c.875T>G (p.Met292Arg) c.386T>G (p.Met129Arg) c.345+9560T>G (n.345+9560T>G) | |
| 10 | g.97611550T= | CA1930507010 | HOGA1 | c.875T= (p.Met292=) c.386T= (p.Met129=) c.345+9560T= (n.345+9560T=) | |
| 10 | g.97611551G>A | CA5634301 | HOGA1 | c.876G>A (p.Met292Ile) c.387G>A (p.Met129Ile) c.345+9561G>A (n.345+9561G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611551G>C | CA377983372 | HOGA1 | c.876G>C (p.Met292Ile) c.387G>C (p.Met129Ile) c.345+9561G>C (n.345+9561G>C) | |
| 10 | g.97611551G= | CA1930507011 | HOGA1 | c.876G= (p.Met292=) c.387G= (p.Met129=) c.345+9561G= (n.345+9561G=) | |
| 10 | g.97611551G>T | CA377983369 | HOGA1 | c.876G>T (p.Met292Ile) c.387G>T (p.Met129Ile) c.345+9561G>T (n.345+9561G>T) | |
| 10 | g.97611552G>A | CA377983376 | HOGA1 | c.877G>A (p.Asp293Asn) c.388G>A (p.Asp130Asn) c.345+9562G>A (n.345+9562G>A) | gnomAD v4 COSMIC |
| 10 | g.97611552G>C | CA377983379 | HOGA1 | c.877G>C (p.Asp293His) c.388G>C (p.Asp130His) c.345+9562G>C (n.345+9562G>C) | |
| 10 | g.97611552G>T | CA377983382 | HOGA1 | c.877G>T (p.Asp293Tyr) c.388G>T (p.Asp130Tyr) c.345+9562G>T (n.345+9562G>T) | |
| 10 | g.97611553del | CA2610415482 | HOGA1 | c.878del (p.Asp293AlafsTer17) c.389del (p.Asp130AlafsTer17) c.345+9563del (n.345+9563del) | gnomAD v4 |
| 10 | g.97611553A= | CA1930507013 | HOGA1 | c.878A= (p.Asp293=) c.389A= (p.Asp130=) c.345+9563A= (n.345+9563A=) | |
| 10 | g.97611553A>C | CA377983385 | HOGA1 | c.878A>C (p.Asp293Ala) c.389A>C (p.Asp130Ala) c.345+9563A>C (n.345+9563A>C) | |
| 10 | g.97611553A>G | CA377983387 | HOGA1 | c.878A>G (p.Asp293Gly) c.389A>G (p.Asp130Gly) c.345+9563A>G (n.345+9563A>G) | |
| 10 | g.97611553A>T | CA377983390 | HOGA1 | c.878A>T (p.Asp293Val) c.389A>T (p.Asp130Val) c.345+9563A>T (n.345+9563A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611554C>A | CA377983392 | HOGA1 | c.879C>A (p.Asp293Glu) c.390C>A (p.Asp130Glu) c.345+9564C>A (n.345+9564C>A) | |
| 10 | g.97611554C>G | CA377983393 | HOGA1 | c.879C>G (p.Asp293Glu) c.390C>G (p.Asp130Glu) c.345+9564C>G (n.345+9564C>G) | |
| 10 | g.97611554C>T | CA471092754 | HOGA1 | c.879C>T (p.Asp293=) c.390C>T (p.Asp130=) c.345+9564C>T (n.345+9564C>T) | gnomAD v4 |
| 10 | g.97611555T>A | CA377983395 | HOGA1 | c.880T>A (p.Trp294Arg) c.391T>A (p.Trp131Arg) c.345+9565T>A (n.345+9565T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611555T>C | CA377983397 | HOGA1 | c.880T>C (p.Trp294Arg) c.391T>C (p.Trp131Arg) c.345+9565T>C (n.345+9565T>C) | |
| 10 | g.97611555T>G | CA377983399 | HOGA1 | c.880T>G (p.Trp294Gly) c.391T>G (p.Trp131Gly) c.345+9565T>G (n.345+9565T>G) | |
| 10 | g.97611555T= | CA1930507015 | HOGA1 | c.880T= (p.Trp294=) c.391T= (p.Trp131=) c.345+9565T= (n.345+9565T=) | |
| 10 | g.97611555_97611565del | CA2610415493 | HOGA1 | c.880_890del (p.Trp294LeufsTer16) c.391_401del (p.Trp131LeufsTer16) c.345+9565_345+9575del (n.345+9565_345+9575del) | gnomAD v4 |
| 10 | g.97611556G>A | CA377983402 | HOGA1 | c.881G>A (p.Trp294Ter) c.392G>A (p.Trp131Ter) c.345+9566G>A (n.345+9566G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611556G>C | CA377983404 | HOGA1 | c.881G>C (p.Trp294Ser) c.392G>C (p.Trp131Ser) c.345+9566G>C (n.345+9566G>C) | |
| 10 | g.97611556G= | CA1930507017 | HOGA1 | c.881G= (p.Trp294=) c.392G= (p.Trp131=) c.345+9566G= (n.345+9566G=) | |
| 10 | g.97611556G>T | CA377983406 | HOGA1 | c.881G>T (p.Trp294Leu) c.392G>T (p.Trp131Leu) c.345+9566G>T (n.345+9566G>T) | |
| 10 | g.97611557G>A | CA377983411 | HOGA1 | c.882G>A (p.Trp294Ter) c.393G>A (p.Trp131Ter) c.345+9567G>A (n.345+9567G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.97611557G>C | CA5634302 | HOGA1 | c.882G>C (p.Trp294Cys) c.393G>C (p.Trp131Cys) c.345+9567G>C (n.345+9567G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611557G= | CA1930507019 | HOGA1 | c.882G= (p.Trp294=) c.393G= (p.Trp131=) c.345+9567G= (n.345+9567G=) | |
| 10 | g.97611557G>T | CA377983409 | HOGA1 | c.882G>T (p.Trp294Cys) c.393G>T (p.Trp131Cys) c.345+9567G>T (n.345+9567G>T) | |
| 10 | g.97611558T>A | CA377983416 | HOGA1 | c.883T>A (p.Phe295Ile) c.394T>A (p.Phe132Ile) c.345+9568T>A (n.345+9568T>A) | |
| 10 | g.97611558T>C | CA377983417 | HOGA1 | c.883T>C (p.Phe295Leu) c.394T>C (p.Phe132Leu) c.345+9568T>C (n.345+9568T>C) | |
| 10 | g.97611558T>G | CA377983420 | HOGA1 | c.883T>G (p.Phe295Val) c.394T>G (p.Phe132Val) c.345+9568T>G (n.345+9568T>G) | |
| 10 | g.97611559T>A | CA377983423 | HOGA1 | c.884T>A (p.Phe295Tyr) c.395T>A (p.Phe132Tyr) c.345+9569T>A (n.345+9569T>A) | |
| 10 | g.97611559T>C | CA5634303 | HOGA1 | c.884T>C (p.Phe295Ser) c.395T>C (p.Phe132Ser) c.345+9569T>C (n.345+9569T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611559T>G | CA377983426 | HOGA1 | c.884T>G (p.Phe295Cys) c.395T>G (p.Phe132Cys) c.345+9569T>G (n.345+9569T>G) | |
| 10 | g.97611559T= | CA1930507021 | HOGA1 | c.884T= (p.Phe295=) c.395T= (p.Phe132=) c.345+9569T= (n.345+9569T=) | |
| 10 | g.97611560T>A | CA377983431 | HOGA1 | c.885T>A (p.Phe295Leu) c.396T>A (p.Phe132Leu) c.345+9570T>A (n.345+9570T>A) | |
| 10 | g.97611560T>C | CA471092761 | HOGA1 | c.885T>C (p.Phe295=) c.396T>C (p.Phe132=) c.345+9570T>C (n.345+9570T>C) | |
| 10 | g.97611560T>G | CA377983429 | HOGA1 | c.885T>G (p.Phe295Leu) c.396T>G (p.Phe132Leu) c.345+9570T>G (n.345+9570T>G) | |
| 10 | g.97611561G>A | CA377983434 | HOGA1 | c.886G>A (p.Gly296Ser) c.397G>A (p.Gly133Ser) c.345+9571G>A (n.345+9571G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611561G>C | CA377983436 | HOGA1 | c.886G>C (p.Gly296Arg) c.397G>C (p.Gly133Arg) c.345+9571G>C (n.345+9571G>C) | |
| 10 | g.97611561G= | CA1930507023 | HOGA1 | c.886G= (p.Gly296=) c.397G= (p.Gly133=) c.345+9571G= (n.345+9571G=) | |
| 10 | g.97611561G>T | CA377983438 | HOGA1 | c.886G>T (p.Gly296Cys) c.397G>T (p.Gly133Cys) c.345+9571G>T (n.345+9571G>T) | |
| 10 | g.97611562G>A | CA377983442 | HOGA1 | c.887G>A (p.Gly296Asp) c.398G>A (p.Gly133Asp) c.345+9572G>A (n.345+9572G>A) | dbSNP |
| 10 | g.97611562G>C | CA377983444 | HOGA1 | c.887G>C (p.Gly296Ala) c.398G>C (p.Gly133Ala) c.345+9572G>C (n.345+9572G>C) | |
| 10 | g.97611562G= | CA1930507025 | HOGA1 | c.887G= (p.Gly296=) c.398G= (p.Gly133=) c.345+9572G= (n.345+9572G=) | |
| 10 | g.97611562G>T | CA377983446 | HOGA1 | c.887G>T (p.Gly296Val) c.398G>T (p.Gly133Val) c.345+9572G>T (n.345+9572G>T) | |
| 10 | g.97611563C>A | CA471092767 | HOGA1 | c.888C>A (p.Gly296=) c.399C>A (p.Gly133=) c.345+9573C>A (n.345+9573C>A) | |
| 10 | g.97611563C>G | CA471092766 | HOGA1 | c.888C>G (p.Gly296=) c.399C>G (p.Gly133=) c.345+9573C>G (n.345+9573C>G) | |
| 10 | g.97611563C>T | CA471092768 | HOGA1 | c.888C>T (p.Gly296=) c.399C>T (p.Gly133=) c.345+9573C>T (n.345+9573C>T) | |
| 10 | g.97611564T>A | CA377983449 | HOGA1 | c.889T>A (p.Tyr297Asn) c.400T>A (p.Tyr134Asn) c.345+9574T>A (n.345+9574T>A) | |
| 10 | g.97611564T>C | CA377983453 | HOGA1 | c.889T>C (p.Tyr297His) c.400T>C (p.Tyr134His) c.345+9574T>C (n.345+9574T>C) | |
| 10 | g.97611564T>G | CA377983451 | HOGA1 | c.889T>G (p.Tyr297Asp) c.400T>G (p.Tyr134Asp) c.345+9574T>G (n.345+9574T>G) | |
| 10 | g.97611565A= | CA1930507028 | HOGA1 | c.890A= (p.Tyr297=) c.401A= (p.Tyr134=) c.345+9575A= (n.345+9575A=) | |
| 10 | g.97611565A>C | CA377983456 | HOGA1 | c.890A>C (p.Tyr297Ser) c.401A>C (p.Tyr134Ser) c.345+9575A>C (n.345+9575A>C) | |
| 10 | g.97611565A>G | CA377983458 | HOGA1 | c.890A>G (p.Tyr297Cys) c.401A>G (p.Tyr134Cys) c.345+9575A>G (n.345+9575A>G) | dbSNP gnomAD v4 |
| 10 | g.97611565A>T | CA377983460 | HOGA1 | c.890A>T (p.Tyr297Phe) c.401A>T (p.Tyr134Phe) c.345+9575A>T (n.345+9575A>T) | |
| 10 | g.97611566C>A | CA377983463 | HOGA1 | c.891C>A (p.Tyr297Ter) c.402C>A (p.Tyr134Ter) c.345+9576C>A (n.345+9576C>A) | |
| 10 | g.97611566C= | CA1930507033 | HOGA1 | c.891C= (p.Tyr297=) c.402C= (p.Tyr134=) c.345+9576C= (n.345+9576C=) | |
| 10 | g.97611566C>G | CA377983465 | HOGA1 | c.891C>G (p.Tyr297Ter) c.402C>G (p.Tyr134Ter) c.345+9576C>G (n.345+9576C>G) | |
| 10 | g.97611566C>T | CA471092770 | HOGA1 | c.891C>T (p.Tyr297=) c.402C>T (p.Tyr134=) c.345+9576C>T (n.345+9576C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611567T>A | CA377983468 | HOGA1 | c.892T>A (p.Tyr298Asn) c.403T>A (p.Tyr135Asn) c.345+9577T>A (n.345+9577T>A) | |
| 10 | g.97611567T>C | CA377983470 | HOGA1 | c.892T>C (p.Tyr298His) c.403T>C (p.Tyr135His) c.345+9577T>C (n.345+9577T>C) | dbSNP gnomAD v4 |
| 10 | g.97611567T>G | CA377983472 | HOGA1 | c.892T>G (p.Tyr298Asp) c.403T>G (p.Tyr135Asp) c.345+9577T>G (n.345+9577T>G) | |
| 10 | g.97611567T= | CA1930507037 | HOGA1 | c.892T= (p.Tyr298=) c.403T= (p.Tyr135=) c.345+9577T= (n.345+9577T=) | |
| 10 | g.97611568A= | CA1930507039 | HOGA1 | c.893A= (p.Tyr298=) c.404A= (p.Tyr135=) c.345+9578A= (n.345+9578A=) | |
| 10 | g.97611568A>C | CA377983475 | HOGA1 | c.893A>C (p.Tyr298Ser) c.404A>C (p.Tyr135Ser) c.345+9578A>C (n.345+9578A>C) | |
| 10 | g.97611568A>G | CA377983477 | HOGA1 | c.893A>G (p.Tyr298Cys) c.404A>G (p.Tyr135Cys) c.345+9578A>G (n.345+9578A>G) | dbSNP |
| 10 | g.97611568A>T | CA377983479 | HOGA1 | c.893A>T (p.Tyr298Phe) c.404A>T (p.Tyr135Phe) c.345+9578A>T (n.345+9578A>T) | |
| 10 | g.97611569T>A | CA377983482 | HOGA1 | c.894T>A (p.Tyr298Ter) c.405T>A (p.Tyr135Ter) c.345+9579T>A (n.345+9579T>A) | |
| 10 | g.97611569T>C | CA471092771 | HOGA1 | c.894T>C (p.Tyr298=) c.405T>C (p.Tyr135=) c.345+9579T>C (n.345+9579T>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.97611569T>G | CA377983484 | HOGA1 | c.894T>G (p.Tyr298Ter) c.405T>G (p.Tyr135Ter) c.345+9579T>G (n.345+9579T>G) | gnomAD v4 |
| 10 | g.97611570G>A | CA377983487 | HOGA1 | c.895G>A (p.Gly299Arg) c.406G>A (p.Gly136Arg) c.345+9580G>A (n.345+9580G>A) | |
| 10 | g.97611570G>C | CA377983490 | HOGA1 | c.895G>C (p.Gly299Arg) c.406G>C (p.Gly136Arg) c.345+9580G>C (n.345+9580G>C) | ClinVar |
| 10 | g.97611570G>T | CA377983488 | HOGA1 | c.895G>T (p.Gly299Ter) c.406G>T (p.Gly136Ter) c.345+9580G>T (n.345+9580G>T) | |
| 10 | g.97611571G>A | CA377983493 | HOGA1 | c.896G>A (p.Gly299Glu) c.407G>A (p.Gly136Glu) c.345+9581G>A (n.345+9581G>A) | |
| 10 | g.97611571G>C | CA377983497 | HOGA1 | c.896G>C (p.Gly299Ala) c.407G>C (p.Gly136Ala) c.345+9581G>C (n.345+9581G>C) | |
| 10 | g.97611571G>T | CA377983495 | HOGA1 | c.896G>T (p.Gly299Val) c.407G>T (p.Gly136Val) c.345+9581G>T (n.345+9581G>T) | |
| 10 | g.97611572A>C | CA471092772 | HOGA1 | c.897A>C (p.Gly299=) c.408A>C (p.Gly136=) c.345+9582A>C (n.345+9582A>C) | |
| 10 | g.97611572A>G | CA471092773 | HOGA1 | c.897A>G (p.Gly299=) c.408A>G (p.Gly136=) c.345+9582A>G (n.345+9582A>G) | gnomAD v4 |
| 10 | g.97611572A>T | CA471092774 | HOGA1 | c.897A>T (p.Gly299=) c.408A>T (p.Gly136=) c.345+9582A>T (n.345+9582A>T) | |
| 10 | g.97611573G>A | CA377983500 | HOGA1 | c.898G>A (p.Gly300Ser) c.409G>A (p.Gly137Ser) c.345+9583G>A (n.345+9583G>A) | |
| 10 | g.97611573G>C | CA377983502 | HOGA1 | c.898G>C (p.Gly300Arg) c.409G>C (p.Gly137Arg) c.345+9583G>C (n.345+9583G>C) | |
| 10 | g.97611573G>T | CA377983505 | HOGA1 | c.898G>T (p.Gly300Cys) c.409G>T (p.Gly137Cys) c.345+9583G>T (n.345+9583G>T) | |
| 10 | g.97611574del | CA2695212541 | HOGA1 | c.899del (p.Gly300AlafsTer10) c.410del (p.Gly137AlafsTer10) c.345+9584del (n.345+9584del) | |
| 10 | g.97611574G>A | CA5634304 | HOGA1 | c.899G>A (p.Gly300Asp) c.410G>A (p.Gly137Asp) c.345+9584G>A (n.345+9584G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611574G>C | CA377983508 | HOGA1 | c.899G>C (p.Gly300Ala) c.410G>C (p.Gly137Ala) c.345+9584G>C (n.345+9584G>C) | |
| 10 | g.97611574G= | CA1930507042 | HOGA1 | c.899G= (p.Gly300=) c.410G= (p.Gly137=) c.345+9584G= (n.345+9584G=) | |
| 10 | g.97611574G>T | CA377983510 | HOGA1 | c.899G>T (p.Gly300Val) c.410G>T (p.Gly137Val) c.345+9584G>T (n.345+9584G>T) | |
| 10 | g.97611575C>A | CA471092775 | HOGA1 | c.900C>A (p.Gly300=) c.411C>A (p.Gly137=) c.345+9585C>A (n.345+9585C>A) | |
| 10 | g.97611575C>G | CA471092776 | HOGA1 | c.900C>G (p.Gly300=) c.411C>G (p.Gly137=) c.345+9585C>G (n.345+9585C>G) | dbSNP |
| 10 | g.97611575C>T | CA471092777 | HOGA1 | c.900C>T (p.Gly300=) c.411C>T (p.Gly137=) c.345+9585C>T (n.345+9585C>T) | |
| 10 | g.97611578dup | CA2610415580 | HOGA1 | c.903dup (p.Cys302LeufsTer12) c.414dup (p.Cys139LeufsTer12) c.345+9588dup (n.345+9588dup) | gnomAD v4 |
| 10 | g.97611578del | CA2580082536 | HOGA1 | c.903del (p.Cys302AlafsTer8) c.414del (p.Cys139AlafsTer8) c.345+9588del (n.345+9588del) | ClinVar |
| 10 | g.97611576C>A | CA377983513 | HOGA1 | c.901C>A (p.Pro301Thr) c.412C>A (p.Pro138Thr) c.345+9586C>A (n.345+9586C>A) | |
| 10 | g.97611576C= | CA1930507045 | HOGA1 | c.901C= (p.Pro301=) c.412C= (p.Pro138=) c.345+9586C= (n.345+9586C=) | |
| 10 | g.97611576C>G | CA377983515 | HOGA1 | c.901C>G (p.Pro301Ala) c.412C>G (p.Pro138Ala) c.345+9586C>G (n.345+9586C>G) | |
| 10 | g.97611576C>T | CA377983517 | HOGA1 | c.901C>T (p.Pro301Ser) c.412C>T (p.Pro138Ser) c.345+9586C>T (n.345+9586C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611577C>A | CA377983520 | HOGA1 | c.902C>A (p.Pro301His) c.413C>A (p.Pro138His) c.345+9587C>A (n.345+9587C>A) | |
| 10 | g.97611577C= | CA1930507047 | HOGA1 | c.902C= (p.Pro301=) c.413C= (p.Pro138=) c.345+9587C= (n.345+9587C=) | |
| 10 | g.97611577C>G | CA5634305 | HOGA1 | c.902C>G (p.Pro301Arg) c.413C>G (p.Pro138Arg) c.345+9587C>G (n.345+9587C>G) | dbSNP ExAC |
| 10 | g.97611577C>T | CA377983523 | HOGA1 | c.902C>T (p.Pro301Leu) c.413C>T (p.Pro138Leu) c.345+9587C>T (n.345+9587C>T) | |
| 10 | g.97611578C>A | CA471092780 | HOGA1 | c.903C>A (p.Pro301=) c.414C>A (p.Pro138=) c.345+9588C>A (n.345+9588C>A) | |
| 10 | g.97611578C>G | CA471092779 | HOGA1 | c.903C>G (p.Pro301=) c.414C>G (p.Pro138=) c.345+9588C>G (n.345+9588C>G) | |
| 10 | g.97611578C>T | CA471092778 | HOGA1 | c.903C>T (p.Pro301=) c.414C>T (p.Pro138=) c.345+9588C>T (n.345+9588C>T) | |
| 10 | g.97611579del | CA912970598 | HOGA1 | c.904del (p.Cys302AlafsTer8) c.415del (p.Cys139AlafsTer8) c.345+9589del (n.345+9589del) | ClinVar dbSNP |
| 10 | g.97611579T>A | CA377983531 | HOGA1 | c.904T>A (p.Cys302Ser) c.415T>A (p.Cys139Ser) c.345+9589T>A (n.345+9589T>A) | |
| 10 | g.97611579T>C | CA377983527 | HOGA1 | c.904T>C (p.Cys302Arg) c.415T>C (p.Cys139Arg) c.345+9589T>C (n.345+9589T>C) | |
| 10 | g.97611579T>G | CA377983528 | HOGA1 | c.904T>G (p.Cys302Gly) c.415T>G (p.Cys139Gly) c.345+9589T>G (n.345+9589T>G) | |
| 10 | g.97611580G>A | CA377983534 | HOGA1 | c.905G>A (p.Cys302Tyr) c.416G>A (p.Cys139Tyr) c.345+9590G>A (n.345+9590G>A) | |
| 10 | g.97611580G>C | CA377983536 | HOGA1 | c.905G>C (p.Cys302Ser) c.416G>C (p.Cys139Ser) c.345+9590G>C (n.345+9590G>C) | gnomAD v4 |
| 10 | g.97611580G>T | CA377983537 | HOGA1 | c.905G>T (p.Cys302Phe) c.416G>T (p.Cys139Phe) c.345+9590G>T (n.345+9590G>T) | |
| 10 | g.97611581C>A | CA377983540 | HOGA1 | c.906C>A (p.Cys302Ter) c.417C>A (p.Cys139Ter) c.345+9591C>A (n.345+9591C>A) | gnomAD v4 |
| 10 | g.97611581C>G | CA377983542 | HOGA1 | c.906C>G (p.Cys302Trp) c.417C>G (p.Cys139Trp) c.345+9591C>G (n.345+9591C>G) | |
| 10 | g.97611581C>T | CA471092781 | HOGA1 | c.906C>T (p.Cys302=) c.417C>T (p.Cys139=) c.345+9591C>T (n.345+9591C>T) | |
| 10 | g.97611582C>A | CA377983545 | HOGA1 | c.907C>A (p.Arg303Ser) c.418C>A (p.Arg140Ser) c.345+9592C>A (n.345+9592C>A) | |
| 10 | g.97611582C= | CA1930507050 | HOGA1 | c.907C= (p.Arg303=) c.418C= (p.Arg140=) c.345+9592C= (n.345+9592C=) | |
| 10 | g.97611582C>G | CA377983546 | HOGA1 | c.907C>G (p.Arg303Gly) c.418C>G (p.Arg140Gly) c.345+9592C>G (n.345+9592C>G) | ClinVar |
| 10 | g.97611582C>T | CA203968 | HOGA1 | c.907C>T (p.Arg303Cys) c.418C>T (p.Arg140Cys) c.345+9592C>T (n.345+9592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611583G>A | CA5634306 | HOGA1 | c.908G>A (p.Arg303His) c.419G>A (p.Arg140His) c.345+9593G>A (n.345+9593G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.97611583G>C | CA377983552 | HOGA1 | c.908G>C (p.Arg303Pro) c.419G>C (p.Arg140Pro) c.345+9593G>C (n.345+9593G>C) | |
| 10 | g.97611583G= | CA1930507055 | HOGA1 | c.908G= (p.Arg303=) c.419G= (p.Arg140=) c.345+9593G= (n.345+9593G=) | |
| 10 | g.97611583G>T | CA377983554 | HOGA1 | c.908G>T (p.Arg303Leu) c.419G>T (p.Arg140Leu) c.345+9593G>T (n.345+9593G>T) | gnomAD v4 |
| 10 | g.97611584C>A | CA471092782 | HOGA1 | c.909C>A (p.Arg303=) c.420C>A (p.Arg140=) c.345+9594C>A (n.345+9594C>A) | |
| 10 | g.97611584C= | CA1930507058 | HOGA1 | c.909C= (p.Arg303=) c.420C= (p.Arg140=) c.345+9594C= (n.345+9594C=) | |
| 10 | g.97611584C>G | CA471092783 | HOGA1 | c.909C>G (p.Arg303=) c.420C>G (p.Arg140=) c.345+9594C>G (n.345+9594C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97611584C>T | CA5634307 | HOGA1 | c.909C>T (p.Arg303=) c.420C>T (p.Arg140=) c.345+9594C>T (n.345+9594C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.97611585G>A | CA5634308 | HOGA1 | c.910G>A (p.Ala304Thr) c.421G>A (p.Ala141Thr) c.345+9595G>A (n.345+9595G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.97611585G>C | CA377983559 | HOGA1 | c.910G>C (p.Ala304Pro) c.421G>C (p.Ala141Pro) c.345+9595G>C (n.345+9595G>C) | |
| 10 | g.97611585G= | CA1930507062 | HOGA1 | c.910G= (p.Ala304=) c.421G= (p.Ala141=) c.345+9595G= (n.345+9595G=) | |
| 10 | g.97611585G>T | CA377983561 | HOGA1 | c.910G>T (p.Ala304Ser) c.421G>T (p.Ala141Ser) c.345+9595G>T (n.345+9595G>T) | |
| 10 | g.97611585_97611586insT | CA2610415652 | HOGA1 | c.910_911insT (p.Ala304ValfsTer10) c.421_422insT (p.Ala141ValfsTer10) c.345+9595_345+9596insT (n.345+9595_345+9596insT) | gnomAD v4 |
| 10 | g.97611586C>A | CA377983565 | HOGA1 | c.911C>A (p.Ala304Asp) c.422C>A (p.Ala141Asp) c.345+9596C>A (n.345+9596C>A) | |
| 10 | g.97611586C= | CA1930507065 | HOGA1 | c.911C= (p.Ala304=) c.422C= (p.Ala141=) c.345+9596C= (n.345+9596C=) | |
| 10 | g.97611586C>G | CA377983567 | HOGA1 | c.911C>G (p.Ala304Gly) c.422C>G (p.Ala141Gly) c.345+9596C>G (n.345+9596C>G) | |
| 10 | g.97611586C>T | CA5634309 | HOGA1 | c.911C>T (p.Ala304Val) c.422C>T (p.Ala141Val) c.345+9596C>T (n.345+9596C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611590del | CA2610415653 | HOGA1 | c.915del (p.Leu306CysfsTer4) c.426del (p.Leu143CysfsTer4) c.345+9600del (n.345+9600del) | gnomAD v4 |
| 10 | g.97611587C>A | CA203934 | HOGA1 | c.912C>A (p.Ala304=) c.423C>A (p.Ala141=) c.345+9597C>A (n.345+9597C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611587C= | CA1930507069 | HOGA1 | c.912C= (p.Ala304=) c.423C= (p.Ala141=) c.345+9597C= (n.345+9597C=) | |
| 10 | g.97611587C>G | CA471092784 | HOGA1 | c.912C>G (p.Ala304=) c.423C>G (p.Ala141=) c.345+9597C>G (n.345+9597C>G) | |
| 10 | g.97611587C>T | CA471092785 | HOGA1 | c.912C>T (p.Ala304=) c.423C>T (p.Ala141=) c.345+9597C>T (n.345+9597C>T) | |
| 10 | g.97611588C>A | CA377983573 | HOGA1 | c.913C>A (p.Pro305Thr) c.424C>A (p.Pro142Thr) c.345+9598C>A (n.345+9598C>A) | |
| 10 | g.97611588C= | CA1930507072 | HOGA1 | c.913C= (p.Pro305=) c.424C= (p.Pro142=) c.345+9598C= (n.345+9598C=) | |
| 10 | g.97611588C>G | CA377983575 | HOGA1 | c.913C>G (p.Pro305Ala) c.424C>G (p.Pro142Ala) c.345+9598C>G (n.345+9598C>G) | |
| 10 | g.97611588C>T | CA377983577 | HOGA1 | c.913C>T (p.Pro305Ser) c.424C>T (p.Pro142Ser) c.345+9598C>T (n.345+9598C>T) | dbSNP gnomAD v4 |