| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2169854_2169880delinsCCCAATGAACCGCGGGGACTGTGGGGA | CA1948009781 | TH | c.91-9_108delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG) c.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG) c.172-9_189delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.184-9_201delinsTCCCCACAGTCCCCGCGGTTCATTGGG c.103-9_120delinsTCCCCACAGTCCCCGCGGTTCATTGGG | |
| 11 | g.2169855C>A | CA379112524 | TH | c.107G>T (p.Gly36Val) c.91-160G>T (n.91-160G>T) c.103-160G>T (n.103-160G>T) c.188G>T (p.Gly63Val) c.200G>T (p.Gly67Val) c.119G>T (p.Gly40Val) | ClinVar |
| 11 | g.2169855C= | CA1948009784 | TH | c.107G= (p.Gly36=) c.91-160G= (n.91-160G=) c.103-160G= (n.103-160G=) c.188G= (p.Gly63=) c.200G= (p.Gly67=) c.119G= (p.Gly40=) | |
| 11 | g.2169855C>G | CA379112523 | TH | c.107G>C (p.Gly36Ala) c.91-160G>C (n.91-160G>C) c.103-160G>C (n.103-160G>C) c.188G>C (p.Gly63Ala) c.200G>C (p.Gly67Ala) c.119G>C (p.Gly40Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169855C>T | CA379112525 | TH | c.107G>A (p.Gly36Glu) c.91-160G>A (n.91-160G>A) c.103-160G>A (n.103-160G>A) c.188G>A (p.Gly63Glu) c.200G>A (p.Gly67Glu) c.119G>A (p.Gly40Glu) | |
| 11 | g.2169856_2169881del | CA16041467 | TH | c.91-9_107del c.91-185_91-160del (n.91-185_91-160del) c.103-185_103-160del (n.103-185_103-160del) c.172-9_188del c.184-9_200del c.103-9_119del | ClinVar dbSNP |
| 11 | g.2169856C>A | CA379112526 | TH | c.106G>T (p.Gly36Trp) c.91-161G>T (n.91-161G>T) c.103-161G>T (n.103-161G>T) c.187G>T (p.Gly63Trp) c.199G>T (p.Gly67Trp) c.118G>T (p.Gly40Trp) | |
| 11 | g.2169856C= | CA1948009787 | TH | c.106G= (p.Gly36=) c.91-161G= (n.91-161G=) c.103-161G= (n.103-161G=) c.187G= (p.Gly63=) c.199G= (p.Gly67=) c.118G= (p.Gly40=) | |
| 11 | g.2169856C>G | CA379112527 | TH | c.106G>C (p.Gly36Arg) c.91-161G>C (n.91-161G>C) c.103-161G>C (n.103-161G>C) c.187G>C (p.Gly63Arg) c.199G>C (p.Gly67Arg) c.118G>C (p.Gly40Arg) | |
| 11 | g.2169856C>T | CA379112528 | TH | c.106G>A (p.Gly36Arg) c.91-161G>A (n.91-161G>A) c.103-161G>A (n.103-161G>A) c.187G>A (p.Gly63Arg) c.199G>A (p.Gly67Arg) c.118G>A (p.Gly40Arg) | dbSNP gnomAD v2 |
| 11 | g.2169857A>C | CA379112529 | TH | c.105T>G (p.Ile35Met) c.91-162T>G (n.91-162T>G) c.103-162T>G (n.103-162T>G) c.186T>G (p.Ile62Met) c.198T>G (p.Ile66Met) c.117T>G (p.Ile39Met) | gnomAD v4 |
| 11 | g.2169857A>G | CA472018904 | TH | c.105T>C (p.Ile35=) c.91-162T>C (n.91-162T>C) c.103-162T>C (n.103-162T>C) c.186T>C (p.Ile62=) c.198T>C (p.Ile66=) c.117T>C (p.Ile39=) | |
| 11 | g.2169857A>T | CA472018905 | TH | c.105T>A (p.Ile35=) c.91-162T>A (n.91-162T>A) c.103-162T>A (n.103-162T>A) c.186T>A (p.Ile62=) c.198T>A (p.Ile66=) c.117T>A (p.Ile39=) | |
| 11 | g.2169858A= | CA1948009790 | TH | c.104T= (p.Ile35=) c.91-163T= (n.91-163T=) c.103-163T= (n.103-163T=) c.185T= (p.Ile62=) c.197T= (p.Ile66=) c.116T= (p.Ile39=) | |
| 11 | g.2169858A>C | CA379112530 | TH | c.104T>G (p.Ile35Ser) c.91-163T>G (n.91-163T>G) c.103-163T>G (n.103-163T>G) c.185T>G (p.Ile62Ser) c.197T>G (p.Ile66Ser) c.116T>G (p.Ile39Ser) | |
| 11 | g.2169858A>G | CA5818793 | TH | c.104T>C (p.Ile35Thr) c.91-163T>C (n.91-163T>C) c.103-163T>C (n.103-163T>C) c.185T>C (p.Ile62Thr) c.197T>C (p.Ile66Thr) c.116T>C (p.Ile39Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169858A>T | CA379112531 | TH | c.104T>A (p.Ile35Asn) c.91-163T>A (n.91-163T>A) c.103-163T>A (n.103-163T>A) c.185T>A (p.Ile62Asn) c.197T>A (p.Ile66Asn) c.116T>A (p.Ile39Asn) | |
| 11 | g.2169858_2169859delinsAT | CA1948009789 | TH | c.103_104delinsAT (p.Ile35=) c.91-164_91-163delinsAT (n.91-164_91-163delinsAT) c.103-164_103-163delinsAT (n.103-164_103-163delinsAT) c.184_185delinsAT (p.Ile62=) c.196_197delinsAT (p.Ile66=) c.115_116delinsAT (p.Ile39=) | |
| 11 | g.2169859del | CA1948009793 | TH | c.103del (p.Ile35LeufsTer?) c.91-164del (n.91-164del) c.103-164del (n.103-164del) c.184del (p.Ile62LeufsTer?) c.196del (p.Ile66LeufsTer?) c.115del (p.Ile39LeufsTer?) | dbSNP |
| 11 | g.2169859T>A | CA379112532 | TH | c.103A>T (p.Ile35Phe) c.91-164A>T (n.91-164A>T) c.103-164A>T (n.103-164A>T) c.184A>T (p.Ile62Phe) c.196A>T (p.Ile66Phe) c.115A>T (p.Ile39Phe) | |
| 11 | g.2169859T>C | CA379112533 | TH | c.103A>G (p.Ile35Val) c.91-164A>G (n.91-164A>G) c.103-164A>G (n.103-164A>G) c.184A>G (p.Ile62Val) c.196A>G (p.Ile66Val) c.115A>G (p.Ile39Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169859T>G | CA379112534 | TH | c.103A>C (p.Ile35Leu) c.91-164A>C (n.91-164A>C) c.103-164A>C (n.103-164A>C) c.184A>C (p.Ile62Leu) c.196A>C (p.Ile66Leu) c.115A>C (p.Ile39Leu) | dbSNP gnomAD v4 |
| 11 | g.2169859T= | CA1948009794 | TH | c.103A= (p.Ile35=) c.91-164A= (n.91-164A=) c.103-164A= (n.103-164A=) c.184A= (p.Ile62=) c.196A= (p.Ile66=) c.115A= (p.Ile39=) | |
| 11 | g.2169860G>A | CA472018906 | TH | c.102C>T (p.Phe34=) c.91-165C>T (n.91-165C>T) c.103-165C>T (n.103-165C>T) c.183C>T (p.Phe61=) c.195C>T (p.Phe65=) c.114C>T (p.Phe38=) | gnomAD v4 |
| 11 | g.2169860G>C | CA379112535 | TH | c.102C>G (p.Phe34Leu) c.91-165C>G (n.91-165C>G) c.103-165C>G (n.103-165C>G) c.183C>G (p.Phe61Leu) c.195C>G (p.Phe65Leu) c.114C>G (p.Phe38Leu) | |
| 11 | g.2169860G>T | CA379112536 | TH | c.102C>A (p.Phe34Leu) c.91-165C>A (n.91-165C>A) c.103-165C>A (n.103-165C>A) c.183C>A (p.Phe61Leu) c.195C>A (p.Phe65Leu) c.114C>A (p.Phe38Leu) | |
| 11 | g.2169861A= | CA1948009796 | TH | c.101T= (p.Phe34=) c.91-166T= (n.91-166T=) c.103-166T= (n.103-166T=) c.182T= (p.Phe61=) c.194T= (p.Phe65=) c.113T= (p.Phe38=) | |
| 11 | g.2169861A>C | CA379112537 | TH | c.101T>G (p.Phe34Cys) c.91-166T>G (n.91-166T>G) c.103-166T>G (n.103-166T>G) c.182T>G (p.Phe61Cys) c.194T>G (p.Phe65Cys) c.113T>G (p.Phe38Cys) | |
| 11 | g.2169861A>G | CA5818794 | TH | c.101T>C (p.Phe34Ser) c.91-166T>C (n.91-166T>C) c.103-166T>C (n.103-166T>C) c.182T>C (p.Phe61Ser) c.194T>C (p.Phe65Ser) c.113T>C (p.Phe38Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169861A>T | CA379112538 | TH | c.101T>A (p.Phe34Tyr) c.91-166T>A (n.91-166T>A) c.103-166T>A (n.103-166T>A) c.182T>A (p.Phe61Tyr) c.194T>A (p.Phe65Tyr) c.113T>A (p.Phe38Tyr) | |
| 11 | g.2169862A>C | CA379112539 | TH | c.100T>G (p.Phe34Val) c.91-167T>G (n.91-167T>G) c.103-167T>G (n.103-167T>G) c.181T>G (p.Phe61Val) c.193T>G (p.Phe65Val) c.112T>G (p.Phe38Val) | |
| 11 | g.2169862A>G | CA379112540 | TH | c.100T>C (p.Phe34Leu) c.91-167T>C (n.91-167T>C) c.103-167T>C (n.103-167T>C) c.181T>C (p.Phe61Leu) c.193T>C (p.Phe65Leu) c.112T>C (p.Phe38Leu) | gnomAD v4 |
| 11 | g.2169862A>T | CA379112541 | TH | c.100T>A (p.Phe34Ile) c.91-167T>A (n.91-167T>A) c.103-167T>A (n.103-167T>A) c.181T>A (p.Phe61Ile) c.193T>A (p.Phe65Ile) c.112T>A (p.Phe38Ile) | |
| 11 | g.2169863C>A | CA472018909 | TH | c.99G>T (p.Arg33=) c.91-168G>T (n.91-168G>T) c.103-168G>T (n.103-168G>T) c.180G>T (p.Arg60=) c.192G>T (p.Arg64=) c.111G>T (p.Arg37=) | |
| 11 | g.2169863C>G | CA472018907 | TH | c.99G>C (p.Arg33=) c.91-168G>C (n.91-168G>C) c.103-168G>C (n.103-168G>C) c.180G>C (p.Arg60=) c.192G>C (p.Arg64=) c.111G>C (p.Arg37=) | |
| 11 | g.2169863C>T | CA472018908 | TH | c.99G>A (p.Arg33=) c.91-168G>A (n.91-168G>A) c.103-168G>A (n.103-168G>A) c.180G>A (p.Arg60=) c.192G>A (p.Arg64=) c.111G>A (p.Arg37=) | |
| 11 | g.2169864C>A | CA379112542 | TH | c.98G>T (p.Arg33Leu) c.91-169G>T (n.91-169G>T) c.103-169G>T (n.103-169G>T) c.179G>T (p.Arg60Leu) c.191G>T (p.Arg64Leu) c.110G>T (p.Arg37Leu) | |
| 11 | g.2169864C= | CA1948009799 | TH | c.98G= (p.Arg33=) c.91-169G= (n.91-169G=) c.103-169G= (n.103-169G=) c.179G= (p.Arg60=) c.191G= (p.Arg64=) c.110G= (p.Arg37=) | |
| 11 | g.2169864C>G | CA379112543 | TH | c.98G>C (p.Arg33Pro) c.91-169G>C (n.91-169G>C) c.103-169G>C (n.103-169G>C) c.179G>C (p.Arg60Pro) c.191G>C (p.Arg64Pro) c.110G>C (p.Arg37Pro) | |
| 11 | g.2169864C>T | CA216227842 | TH | c.98G>A (p.Arg33Gln) c.91-169G>A (n.91-169G>A) c.103-169G>A (n.103-169G>A) c.179G>A (p.Arg60Gln) c.191G>A (p.Arg64Gln) c.110G>A (p.Arg37Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2169865G>A | CA216227846 | TH | c.97C>T (p.Arg33Trp) c.91-170C>T (n.91-170C>T) c.103-170C>T (n.103-170C>T) c.178C>T (p.Arg60Trp) c.190C>T (p.Arg64Trp) c.109C>T (p.Arg37Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169865G>C | CA379112544 | TH | c.97C>G (p.Arg33Gly) c.91-170C>G (n.91-170C>G) c.103-170C>G (n.103-170C>G) c.178C>G (p.Arg60Gly) c.190C>G (p.Arg64Gly) c.109C>G (p.Arg37Gly) | |
| 11 | g.2169865G= | CA1948009801 | TH | c.97C= (p.Arg33=) c.91-170C= (n.91-170C=) c.103-170C= (n.103-170C=) c.178C= (p.Arg60=) c.190C= (p.Arg64=) c.109C= (p.Arg37=) | |
| 11 | g.2169865G>T | CA472018910 | TH | c.97C>A (p.Arg33=) c.91-170C>A (n.91-170C>A) c.103-170C>A (n.103-170C>A) c.178C>A (p.Arg60=) c.190C>A (p.Arg64=) c.109C>A (p.Arg37=) | |
| 11 | g.2169866C>A | CA472018911 | TH | c.96G>T (p.Pro32=) c.91-171G>T (n.91-171G>T) c.103-171G>T (n.103-171G>T) c.177G>T (p.Pro59=) c.189G>T (p.Pro63=) c.108G>T (p.Pro36=) | |
| 11 | g.2169866C= | CA1948009805 | TH | c.96G= (p.Pro32=) c.91-171G= (n.91-171G=) c.103-171G= (n.103-171G=) c.177G= (p.Pro59=) c.189G= (p.Pro63=) c.108G= (p.Pro36=) | |
| 11 | g.2169866C>G | CA472018912 | TH | c.96G>C (p.Pro32=) c.91-171G>C (n.91-171G>C) c.103-171G>C (n.103-171G>C) c.177G>C (p.Pro59=) c.189G>C (p.Pro63=) c.108G>C (p.Pro36=) | ClinVar dbSNP |
| 11 | g.2169866C>T | CA5818795 | TH | c.96G>A (p.Pro32=) c.91-171G>A (n.91-171G>A) c.103-171G>A (n.103-171G>A) c.177G>A (p.Pro59=) c.189G>A (p.Pro63=) c.108G>A (p.Pro36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169867G>A | CA5818796 | TH | c.95C>T (p.Pro32Leu) c.91-172C>T (n.91-172C>T) c.103-172C>T (n.103-172C>T) c.176C>T (p.Pro59Leu) c.188C>T (p.Pro63Leu) c.107C>T (p.Pro36Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169867G>C | CA379112546 | TH | c.95C>G (p.Pro32Arg) c.91-172C>G (n.91-172C>G) c.103-172C>G (n.103-172C>G) c.176C>G (p.Pro59Arg) c.188C>G (p.Pro63Arg) c.107C>G (p.Pro36Arg) |