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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177993002A= | CA1603814076 | PROP1 | c.388T= (p.Ser130=) | |
| 5 | g.177993002A>C | CA362378830 | PROP1 | c.388T>G (p.Ser130Ala) | |
| 5 | g.177993002A>G | CA362378829 | PROP1 | c.388T>C (p.Ser130Pro) | |
| 5 | g.177993002A>T | CA362378828 | PROP1 | c.388T>A (p.Ser130Thr) | |
| 5 | g.177993002dup | CA913108654 | PROP1 | c.388dup (p.Ser130PhefsTer?) | |
| 5 | g.177993003G>A | CA448355394 | PROP1 | c.387C>T (p.Arg129=) | |
| 5 | g.177993003G>C | CA448355395 | PROP1 | c.387C>G (p.Arg129=) | |
| 5 | g.177993003G>T | CA448355397 | PROP1 | c.387C>A (p.Arg129=) | gnomAD v4 |
| 5 | g.177993005_177993006dup | CA658822671 | PROP1 | c.386_387dup (p.Ser130AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177993004C>A | CA362378831 | PROP1 | c.386G>T (p.Arg129Leu) | |
| 5 | g.177993004C= | CA1603814077 | PROP1 | c.386G= (p.Arg129=) | |
| 5 | g.177993004C>G | CA362378832 | PROP1 | c.386G>C (p.Arg129Pro) | |
| 5 | g.177993004C>T | CA3587529 | PROP1 | c.386G>A (p.Arg129His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>A | CA3587530 | PROP1 | c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993005G>C | CA362378833 | PROP1 | c.385C>G (p.Arg129Gly) | |
| 5 | g.177993005G= | CA1603814078 | PROP1 | c.385C= (p.Arg129=) | |
| 5 | g.177993005G>T | CA362378834 | PROP1 | c.385C>A (p.Arg129Ser) | |
| 5 | g.177993006C>A | CA362378835 | PROP1 | c.384G>T (p.Glu128Asp) | |
| 5 | g.177993006C= | CA1603814079 | PROP1 | c.384G= (p.Glu128=) | |
| 5 | g.177993006C>G | CA3587532 | PROP1 | c.384G>C (p.Glu128Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993006C>T | CA3587531 | PROP1 | c.384G>A (p.Glu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993007T>A | CA362378836 | PROP1 | c.383A>T (p.Glu128Val) | |
| 5 | g.177993007T>C | CA362378837 | PROP1 | c.383A>G (p.Glu128Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993007T>G | CA362378838 | PROP1 | c.383A>C (p.Glu128Ala) | |
| 5 | g.177993007T= | CA1603814080 | PROP1 | c.383A= (p.Glu128=) | |
| 5 | g.177993008C>A | CA362378839 | PROP1 | c.382G>T (p.Glu128Ter) | |
| 5 | g.177993008C= | CA1603814081 | PROP1 | c.382G= (p.Glu128=) | |
| 5 | g.177993008C>G | CA362378840 | PROP1 | c.382G>C (p.Glu128Gln) | gnomAD v4 |
| 5 | g.177993008C>T | CA362378841 | PROP1 | c.382G>A (p.Glu128Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177993009T>A | CA362378842 | PROP1 | c.381A>T (p.Gln127His) | |
| 5 | g.177993009T>C | CA448355418 | PROP1 | c.381A>G (p.Gln127=) | |
| 5 | g.177993009T>G | CA362378843 | PROP1 | c.381A>C (p.Gln127His) | |
| 5 | g.177993010T>A | CA362378844 | PROP1 | c.380A>T (p.Gln127Leu) | |
| 5 | g.177993010T>C | CA362378845 | PROP1 | c.380A>G (p.Gln127Arg) | |
| 5 | g.177993010T>G | CA362378846 | PROP1 | c.380A>C (p.Gln127Pro) | |
| 5 | g.177993011G>A | CA362378847 | PROP1 | c.379C>T (p.Gln127Ter) | |
| 5 | g.177993011G>C | CA362378849 | PROP1 | c.379C>G (p.Gln127Glu) | |
| 5 | g.177993011G= | CA1603814082 | PROP1 | c.379C= (p.Gln127=) | |
| 5 | g.177993011G>T | CA362378848 | PROP1 | c.379C>A (p.Gln127Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993012C>A | CA362378850 | PROP1 | c.378G>T (p.Lys126Asn) | gnomAD v4 |
| 5 | g.177993012C= | CA1603814083 | PROP1 | c.378G= (p.Lys126=) | |
| 5 | g.177993012C>G | CA3587533 | PROP1 | c.378G>C (p.Lys126Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993012C>T | CA448355431 | PROP1 | c.378G>A (p.Lys126=) | COSMIC |
| 5 | g.177993013T>A | CA362378851 | PROP1 | c.377A>T (p.Lys126Met) | |
| 5 | g.177993013T>C | CA362378852 | PROP1 | c.377A>G (p.Lys126Arg) | |
| 5 | g.177993013T>G | CA362378853 | PROP1 | c.377A>C (p.Lys126Thr) | |
| 5 | g.177993014T>A | CA362378854 | PROP1 | c.376A>T (p.Lys126Ter) | |
| 5 | g.177993014T>C | CA362378855 | PROP1 | c.376A>G (p.Lys126Glu) | |
| 5 | g.177993014T>G | CA362378856 | PROP1 | c.376A>C (p.Lys126Gln) | |
| 5 | g.177993015C>A | CA448355443 | PROP1 | c.375G>T (p.Arg125=) | |
| 5 | g.177993015C>G | CA448355445 | PROP1 | c.375G>C (p.Arg125=) | |
| 5 | g.177993015C>T | CA448355447 | PROP1 | c.375G>A (p.Arg125=) | |
| 5 | g.177993015_177993016delinsTT | CA645563836 | PROP1 | c.374_375delinsAA (p.Arg125Gln) | COSMIC |
| 5 | g.177993016C>A | CA362378857 | PROP1 | c.374G>T (p.Arg125Leu) | |
| 5 | g.177993016C= | CA1603814084 | PROP1 | c.374G= (p.Arg125=) | |
| 5 | g.177993016C>G | CA362378858 | PROP1 | c.374G>C (p.Arg125Pro) | |
| 5 | g.177993016C>T | CA3587534 | PROP1 | c.374G>A (p.Arg125Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993017G>A | CA132897376 | PROP1 | c.373C>T (p.Arg125Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993017G>C | CA362378859 | PROP1 | c.373C>G (p.Arg125Gly) | |
| 5 | g.177993017G= | CA1603814085 | PROP1 | c.373C= (p.Arg125=) | |
| 5 | g.177993017G>T | CA448355456 | PROP1 | c.373C>A (p.Arg125=) | |
| 5 | g.177993018T>A | CA362378860 | PROP1 | c.372A>T (p.Gln124His) | |
| 5 | g.177993018T>C | CA448355461 | PROP1 | c.372A>G (p.Gln124=) | |
| 5 | g.177993018T>G | CA362378861 | PROP1 | c.372A>C (p.Gln124His) | |
| 5 | g.177993019T>A | CA362378862 | PROP1 | c.371A>T (p.Gln124Leu) | |
| 5 | g.177993019T>C | CA362378863 | PROP1 | c.371A>G (p.Gln124Arg) | |
| 5 | g.177993019T>G | CA362378864 | PROP1 | c.371A>C (p.Gln124Pro) | |
| 5 | g.177993020del | CA2842681131 | PROP1 | c.370del (p.Gln124AsnfsTer?) | |
| 5 | g.177993020G>A | CA362378865 | PROP1 | c.370C>T (p.Gln124Ter) | |
| 5 | g.177993020G>C | CA362378866 | PROP1 | c.370C>G (p.Gln124Glu) | |
| 5 | g.177993020G>T | CA362378867 | PROP1 | c.370C>A (p.Gln124Lys) | |
| 5 | g.177993021C>A | CA362378868 | PROP1 | c.369G>T (p.Lys123Asn) | |
| 5 | g.177993021C>G | CA362378869 | PROP1 | c.369G>C (p.Lys123Asn) | |
| 5 | g.177993021C>T | CA448355473 | PROP1 | c.369G>A (p.Lys123=) | |
| 5 | g.177993022T>A | CA362378870 | PROP1 | c.368A>T (p.Lys123Met) | |
| 5 | g.177993022T>C | CA362378871 | PROP1 | c.368A>G (p.Lys123Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993022T>G | CA362378872 | PROP1 | c.368A>C (p.Lys123Thr) | |
| 5 | g.177993022T= | CA1603814086 | PROP1 | c.368A= (p.Lys123=) | |
| 5 | g.177993023T>A | CA362378875 | PROP1 | c.367A>T (p.Lys123Ter) | |
| 5 | g.177993023T>C | CA362378874 | PROP1 | c.367A>G (p.Lys123Glu) | dbSNP |
| 5 | g.177993023T>G | CA362378873 | PROP1 | c.367A>C (p.Lys123Gln) | |
| 5 | g.177993023T= | CA1603814087 | PROP1 | c.367A= (p.Lys123=) | |
| 5 | g.177993024A= | CA1603814088 | PROP1 | c.366T= (p.Ala122=) | |
| 5 | g.177993024A>C | CA448355482 | PROP1 | c.366T>G (p.Ala122=) | |
| 5 | g.177993024A>G | CA448355483 | PROP1 | c.366T>C (p.Ala122=) | |
| 5 | g.177993024A>T | CA448355486 | PROP1 | c.366T>A (p.Ala122=) | dbSNP gnomAD v4 |
| 5 | g.177993025G>A | CA362378876 | PROP1 | c.365C>T (p.Ala122Val) | |
| 5 | g.177993025G>C | CA362378878 | PROP1 | c.365C>G (p.Ala122Gly) | |
| 5 | g.177993025G>T | CA362378877 | PROP1 | c.365C>A (p.Ala122Asp) | |
| 5 | g.177993026C>A | CA362378879 | PROP1 | c.364G>T (p.Ala122Ser) | |
| 5 | g.177993026C= | CA1603814089 | PROP1 | c.364G= (p.Ala122=) | |
| 5 | g.177993026C>G | CA362378881 | PROP1 | c.364G>C (p.Ala122Pro) | |
| 5 | g.177993026C>T | CA362378880 | PROP1 | c.364G>A (p.Ala122Thr) | dbSNP |
| 5 | g.177993027T>A | CA362378882 | PROP1 | c.363A>T (p.Arg121Ser) | |
| 5 | g.177993027T>C | CA448355496 | PROP1 | c.363A>G (p.Arg121=) | |
| 5 | g.177993027T>G | CA362378883 | PROP1 | c.363A>C (p.Arg121Ser) | |
| 5 | g.177993028C>A | CA362378884 | PROP1 | c.362G>T (p.Arg121Ile) | |
| 5 | g.177993028C= | CA1603814090 | PROP1 | c.362G= (p.Arg121=) | |
| 5 | g.177993028C>G | CA362378885 | PROP1 | c.362G>C (p.Arg121Thr) | |
| 5 | g.177993028C>T | CA132897378 | PROP1 | c.362G>A (p.Arg121Lys) | dbSNP |
| 5 | g.177993029T>A | CA362378886 | PROP1 | c.361A>T (p.Arg121Ter) | |
| 5 | g.177993029T>C | CA362378887 | PROP1 | c.361A>G (p.Arg121Gly) | |
| 5 | g.177993029T>G | CA448355506 | PROP1 | c.361A>C (p.Arg121=) | |
| 5 | g.177993030G>A | CA448355509 | PROP1 | c.360C>T (p.Arg120=) | |
| 5 | g.177993030G>C | CA448355511 | PROP1 | c.360C>G (p.Arg120=) | |
| 5 | g.177993030G>T | CA448355513 | PROP1 | c.360C>A (p.Arg120=) | |
| 5 | g.177993031C>A | CA362378888 | PROP1 | c.359G>T (p.Arg120Leu) | gnomAD v4 |
| 5 | g.177993031C= | CA1603814091 | PROP1 | c.359G= (p.Arg120=) | |
| 5 | g.177993031C>G | CA362378889 | PROP1 | c.359G>C (p.Arg120Pro) | |
| 5 | g.177993031C>T | CA16044117 | PROP1 | c.359G>A (p.Arg120His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177993032G>A | CA340722 | PROP1 | c.358C>T (p.Arg120Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177993032G>C | CA362378891 | PROP1 | c.358C>G (p.Arg120Gly) | |
| 5 | g.177993032G= | CA1603814092 | PROP1 | c.358C= (p.Arg120=) | |
| 5 | g.177993032G>T | CA362378890 | PROP1 | c.358C>A (p.Arg120Ser) | |
| 5 | g.177993033G>A | CA3587535 | PROP1 | c.357C>T (p.Asn119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993033G>C | CA362378892 | PROP1 | c.357C>G (p.Asn119Lys) | |
| 5 | g.177993033G= | CA1603814093 | PROP1 | c.357C= (p.Asn119=) | |
| 5 | g.177993033G>T | CA362378893 | PROP1 | c.357C>A (p.Asn119Lys) | |
| 5 | g.177993034T>A | CA362378894 | PROP1 | c.356A>T (p.Asn119Ile) | |
| 5 | g.177993034T>C | CA362378895 | PROP1 | c.356A>G (p.Asn119Ser) | |
| 5 | g.177993034T>G | CA362378896 | PROP1 | c.356A>C (p.Asn119Thr) | |
| 5 | g.177993035T>A | CA362378897 | PROP1 | c.355A>T (p.Asn119Tyr) | |
| 5 | g.177993035T>C | CA362378898 | PROP1 | c.355A>G (p.Asn119Asp) | |
| 5 | g.177993035T>G | CA362378899 | PROP1 | c.355A>C (p.Asn119His) | |
| 5 | g.177993036C>A | CA362378900 | PROP1 | c.354G>T (p.Gln118His) | |
| 5 | g.177993036C>G | CA362378901 | PROP1 | c.354G>C (p.Gln118His) | |
| 5 | g.177993036C>T | CA448355538 | PROP1 | c.354G>A (p.Gln118=) | ClinVar |
| 5 | g.177993037T>A | CA362378904 | PROP1 | c.353A>T (p.Gln118Leu) | |
| 5 | g.177993037T>C | CA362378903 | PROP1 | c.353A>G (p.Gln118Arg) | |
| 5 | g.177993037T>G | CA362378902 | PROP1 | c.353A>C (p.Gln118Pro) | |
| 5 | g.177993038G>A | CA362378905 | PROP1 | c.352C>T (p.Gln118Ter) | ClinVar dbSNP |
| 5 | g.177993038G>C | CA362378906 | PROP1 | c.352C>G (p.Gln118Glu) | |
| 5 | g.177993038G>T | CA362378907 | PROP1 | c.352C>A (p.Gln118Lys) | |
| 5 | g.177993039G>A | CA448355549 | PROP1 | c.351C>T (p.Phe117=) | |
| 5 | g.177993039G>C | CA362378908 | PROP1 | c.351C>G (p.Phe117Leu) | |
| 5 | g.177993039G>T | CA362378909 | PROP1 | c.351C>A (p.Phe117Leu) | |
| 5 | g.177993040A>C | CA362378910 | PROP1 | c.350T>G (p.Phe117Cys) | |
| 5 | g.177993040A>G | CA362378911 | PROP1 | c.350T>C (p.Phe117Ser) | |
| 5 | g.177993040A>T | CA362378912 | PROP1 | c.350T>A (p.Phe117Tyr) | |
| 5 | g.177993041A= | CA1603814094 | PROP1 | c.349T= (p.Phe117=) | |
| 5 | g.177993041A>C | CA362378913 | PROP1 | c.349T>G (p.Phe117Val) | |
| 5 | g.177993041A>G | CA3587536 | PROP1 | c.349T>C (p.Phe117Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177993041A>T | CA340724 | PROP1 | c.349T>A (p.Phe117Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993042C>A | CA362378916 | PROP1 | c.348G>T (p.Trp116Cys) | |
| 5 | g.177993042C>G | CA362378915 | PROP1 | c.348G>C (p.Trp116Cys) | |
| 5 | g.177993042C>T | CA362378914 | PROP1 | c.348G>A (p.Trp116Ter) | |
| 5 | g.177993043C>A | CA362378917 | PROP1 | c.347G>T (p.Trp116Leu) | |
| 5 | g.177993043C>G | CA362378918 | PROP1 | c.347G>C (p.Trp116Ser) | |
| 5 | g.177993043C>T | CA362378919 | PROP1 | c.347G>A (p.Trp116Ter) | |
| 5 | g.177993044A>C | CA362378920 | PROP1 | c.346T>G (p.Trp116Gly) | |
| 5 | g.177993044A>G | CA362378921 | PROP1 | c.346T>C (p.Trp116Arg) | |
| 5 | g.177993044A>T | CA362378922 | PROP1 | c.346T>A (p.Trp116Arg) | |
| 5 | g.177993045G>A | CA448355573 | PROP1 | c.345C>T (p.Val115=) | |
| 5 | g.177993045G>C | CA448355575 | PROP1 | c.345C>G (p.Val115=) | |
| 5 | g.177993045G>T | CA448355576 | PROP1 | c.345C>A (p.Val115=) | gnomAD v4 COSMIC |
| 5 | g.177993046A>C | CA362378923 | PROP1 | c.344T>G (p.Val115Gly) | |
| 5 | g.177993046A>G | CA362378924 | PROP1 | c.344T>C (p.Val115Ala) | |
| 5 | g.177993046A>T | CA362378925 | PROP1 | c.344T>A (p.Val115Asp) | |
| 5 | g.177993047C>A | CA362378926 | PROP1 | c.343G>T (p.Val115Phe) | |
| 5 | g.177993047C>G | CA362378927 | PROP1 | c.343G>C (p.Val115Leu) | |
| 5 | g.177993047C>T | CA362378928 | PROP1 | c.343G>A (p.Val115Ile) | |
| 5 | g.177993048C>A | CA362378930 | PROP1 | c.343-1G>T (n.343-1G>T) | |
| 5 | g.177993048C>G | CA362378931 | PROP1 | c.343-1G>C (n.343-1G>C) | |
| 5 | g.177993048C>T | CA362378929 | PROP1 | c.343-1G>A (n.343-1G>A) | ClinVar |
| 5 | g.177993049T>A | CA16041003 | PROP1 | c.343-2A>T (n.343-2A>T) | ClinVar dbSNP |
| 5 | g.177993049T>C | CA362378932 | PROP1 | c.343-2A>G (n.343-2A>G) | |
| 5 | g.177993049T>G | CA362378933 | PROP1 | c.343-2A>C (n.343-2A>C) | |
| 5 | g.177993049T= | CA1603814095 | PROP1 | c.343-2A= (n.343-2A=) | |
| 5 | g.177993050G>A | CA2578500628 | PROP1 | c.343-3C>T (n.343-3C>T) | |
| 5 | g.177993050G>C | CA2838511737 | PROP1 | c.343-3C>G (n.343-3C>G) | |
| 5 | g.177993052G>A | CA132897406 | PROP1 | c.343-5C>T (n.343-5C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177993052G= | CA1603814096 | PROP1 | c.343-5C= (n.343-5C=) | |
| 5 | g.177993052G>T | CA2499217791 | PROP1 | c.343-5C>A (n.343-5C>A) | ClinVar dbSNP |
| 5 | g.177993053A= | CA1603814097 | PROP1 | c.343-6T= (n.343-6T=) | |
| 5 | g.177993053A>T | CA564901098 | PROP1 | c.343-6T>A (n.343-6T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993055G>A | CA132897408 | PROP1 | c.343-8C>T (n.343-8C>T) | dbSNP gnomAD v4 |
| 5 | g.177993055G= | CA1603814098 | PROP1 | c.343-8C= (n.343-8C=) | |
| 5 | g.177993055G>T | CA3587537 | PROP1 | c.343-8C>A (n.343-8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993058dup | CA2676775199 | PROP1 | c.343-8dup (n.343-8dup) | gnomAD v4 |
| 5 | g.177993056G>A | CA3587538 | PROP1 | c.343-9C>T (n.343-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993056G= | CA1603814099 | PROP1 | c.343-9C= (n.343-9C=) | |
| 5 | g.177993056G>T | CA2676775204 | PROP1 | c.343-9C>A (n.343-9C>A) | ClinVar gnomAD v4 |
| 5 | g.177993057G>A | CA808117856 | PROP1 | c.343-10C>T (n.343-10C>T) | dbSNP |
| 5 | g.177993057G>C | CA1603814101 | PROP1 | c.343-10C>G (n.343-10C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177993057G= | CA1603814100 | PROP1 | c.343-10C= (n.343-10C=) | |
| 5 | g.177993057G>T | CA2578500629 | PROP1 | c.343-10C>A (n.343-10C>A) | |
| 5 | g.177993058G>A | CA3587539 | PROP1 | c.343-11C>T (n.343-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993058G>C | CA564901099 | PROP1 | c.343-11C>G (n.343-11C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993058G= | CA1603814102 | PROP1 | c.343-11C= (n.343-11C=) | |
| 5 | g.177993058G>T | CA2676775205 | PROP1 | c.343-11C>A (n.343-11C>A) | gnomAD v4 |
| 5 | g.177993060A= | CA1603814103 | PROP1 | c.343-13T= (n.343-13T=) | |
| 5 | g.177993060A>G | CA808117877 | PROP1 | c.343-13T>C (n.343-13T>C) | dbSNP |
| 5 | g.177993061G>A | CA2838403198 | PROP1 | c.343-14C>T (n.343-14C>T) | |
| 5 | g.177993062del | CA2676775206 | PROP1 | c.343-14del (n.343-14del) | gnomAD v4 |
| 5 | g.177993062G>A | CA1603814105 | PROP1 | c.343-15C>T (n.343-15C>T) | dbSNP |
| 5 | g.177993062G= | CA1603814104 | PROP1 | c.343-15C= (n.343-15C=) | |
| 5 | g.177993062G>T | CA2676775208 | PROP1 | c.343-15C>A (n.343-15C>A) | gnomAD v4 |
| 5 | g.177993064A= | CA1603814106 | PROP1 | c.343-17T= (n.343-17T=) | |
| 5 | g.177993064A>C | CA2842681132 | PROP1 | c.343-17T>G (n.343-17T>G) | |
| 5 | g.177993064A>G | CA808117880 | PROP1 | c.343-17T>C (n.343-17T>C) | dbSNP |
| 5 | g.177993065C>A | CA808117883 | PROP1 | c.343-18G>T (n.343-18G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177993065C= | CA1603814107 | PROP1 | c.343-18G= (n.343-18G=) | |
| 5 | g.177993065C>G | CA1603814108 | PROP1 | c.343-18G>C (n.343-18G>C) | ClinVar dbSNP |
| 5 | g.177993065C>T | CA564901100 | PROP1 | c.343-18G>A (n.343-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993066C>A | CA2676775210 | PROP1 | c.343-19G>T (n.343-19G>T) | gnomAD v4 |
| 5 | g.177993067A>G | CA2838511734 | PROP1 | c.343-20T>C (n.343-20T>C) | |
| 5 | g.177993068C>A | CA3587540 | PROP1 | c.343-21G>T (n.343-21G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177993068C= | CA1603814109 | PROP1 | c.343-21G= (n.343-21G=) | |
| 5 | g.177993068C>T | CA2676775211 | PROP1 | c.343-21G>A (n.343-21G>A) | gnomAD v4 |
| 5 | g.177993071C>A | CA2842681133 | PROP1 | c.343-24G>T (n.343-24G>T) | |
| 5 | g.177993073G>C | CA2676775212 | PROP1 | c.343-26C>G (n.343-26C>G) | gnomAD v4 |
| 5 | g.177993073G>T | CA2676775213 | PROP1 | c.343-26C>A (n.343-26C>A) | gnomAD v4 |
| 5 | g.177993074A= | CA1603814110 | PROP1 | c.343-27T= (n.343-27T=) | |
| 5 | g.177993074A>G | CA808117892 | PROP1 | c.343-27T>C (n.343-27T>C) | dbSNP gnomAD v4 |
| 5 | g.177993075G>T | CA2676775214 | PROP1 | c.343-28C>A (n.343-28C>A) | gnomAD v4 |
| 5 | g.177993076C>A | CA2676775215 | PROP1 | c.343-29G>T (n.343-29G>T) | gnomAD v4 |
| 5 | g.177993076C= | CA1603814111 | PROP1 | c.343-29G= (n.343-29G=) | |
| 5 | g.177993076C>T | CA3587541 | PROP1 | c.343-29G>A (n.343-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993077C>T | CA2676775216 | PROP1 | c.343-30G>A (n.343-30G>A) | gnomAD v4 |
| 5 | g.177993078C>T | CA2578500630 | PROP1 | c.343-31G>A (n.343-31G>A) | gnomAD v4 |
| 5 | g.177993080C>A | CA2676775217 | PROP1 | c.343-33G>T (n.343-33G>T) | gnomAD v4 |
| 5 | g.177993080C>T | CA2532438070 | PROP1 | c.343-33G>A (n.343-33G>A) | gnomAD v4 |
| 5 | g.177993080_177993081insCT | CA2676775218 | PROP1 | c.343-34_343-33insAG (n.343-34_343-33insAG) | gnomAD v4 |
| 5 | g.177993081A= | CA1603814112 | PROP1 | c.343-34T= (n.343-34T=) | |
| 5 | g.177993081A>C | CA3587542 | PROP1 | c.343-34T>G (n.343-34T>G) | dbSNP ExAC gnomAD v2 |
| 5 | g.177993081_177993082insTGTCAAGTGTGGG | CA2676775219 | PROP1 | c.343-35_343-34insCCCACACTTGACA (n.343-35_343-34insCCCACACTTGACA) | gnomAD v4 |
| 5 | g.177993083T>A | CA132897425 | PROP1 | c.343-36A>T (n.343-36A>T) | dbSNP |
| 5 | g.177993083T= | CA1603814113 | PROP1 | c.343-36A= (n.343-36A=) | |
| 5 | g.177993084T>C | CA2676775220 | PROP1 | c.343-37A>G (n.343-37A>G) | gnomAD v4 |
| 5 | g.177993085G>C | CA2838511735 | PROP1 | c.343-38C>G (n.343-38C>G) | |
| 5 | g.177993085G>T | CA2578500631 | PROP1 | c.343-38C>A (n.343-38C>A) | gnomAD v4 |
| 5 | g.177993087C= | CA1603814114 | PROP1 | c.343-40G= (n.343-40G=) | |
| 5 | g.177993087C>G | CA1603814115 | PROP1 | c.343-40G>C (n.343-40G>C) | dbSNP gnomAD v4 |
| 5 | g.177993087C>T | CA1603814116 | PROP1 | c.343-40G>A (n.343-40G>A) | dbSNP |
| 5 | g.177993088A>G | CA2676775221 | PROP1 | c.343-41T>C (n.343-41T>C) | gnomAD v4 |
| 5 | g.177993089T>C | CA564901101 | PROP1 | c.343-42A>G (n.343-42A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993089T>G | CA3587543 | PROP1 | c.343-42A>C (n.343-42A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177993089T= | CA1603814117 | PROP1 | c.343-42A= (n.343-42A=) | |
| 5 | g.177993090A>G | CA2676775223 | PROP1 | c.343-43T>C (n.343-43T>C) | gnomAD v4 |
| 5 | g.177993091G>T | CA2578500632 | PROP1 | c.343-44C>A (n.343-44C>A) | gnomAD v4 |
| 5 | g.177993092del | CA2676775224 | PROP1 | c.343-44del (n.343-44del) | gnomAD v4 |
| 5 | g.177993092G>A | CA3587544 | PROP1 | c.343-45C>T (n.343-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993092G= | CA1603814118 | PROP1 | c.343-45C= (n.343-45C=) | |
| 5 | g.177993093T>A | CA2842681134 | PROP1 | c.343-46A>T (n.343-46A>T) | |
| 5 | g.177993094G>A | CA2578500634 | PROP1 | c.343-47C>T (n.343-47C>T) | gnomAD v4 |
| 5 | g.177993094G= | CA1603814119 | PROP1 | c.343-47C= (n.343-47C=) | |
| 5 | g.177993094G>T | CA564901102 | PROP1 | c.343-47C>A (n.343-47C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993095dup | CA2578500633 | PROP1 | c.343-47dup (n.343-47dup) | |
| 5 | g.177993095G>A | CA2676775226 | PROP1 | c.343-48C>T (n.343-48C>T) | gnomAD v4 |
| 5 | g.177993095G= | CA1603814120 | PROP1 | c.343-48C= (n.343-48C=) | |
| 5 | g.177993096T>G | CA564901104 | PROP1 | c.343-49A>C (n.343-49A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993096T= | CA1603814121 | PROP1 | c.343-49A= (n.343-49A=) | |
| 5 | g.177993105_177993106insTGTCAATGACACCCTA | CA564901103 | PROP1 | c.343-49_343-48insTTGACATAGGGTGTCA (n.343-49_343-48insTTGACATAGGGTGTCA) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993097G>A | CA564901105 | PROP1 | c.343-50C>T (n.343-50C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177993097G= | CA1603814122 | PROP1 | c.343-50C= (n.343-50C=) | |
| 5 | g.177993097G>T | CA2676775230 | PROP1 | c.343-50C>A (n.343-50C>A) | gnomAD v4 |
| 5 | g.177993099C>T | CA2676775231 | PROP1 | c.343-52G>A (n.343-52G>A) | gnomAD v4 |
| 5 | g.177993100_177993101delinsAC | CA1603814123 | PROP1 | c.343-54_343-53delinsGT (n.343-54_343-53delinsGT) | |
| 5 | g.177993101C= | CA1603814124 | PROP1 | c.343-54G= (n.343-54G=) | |
| 5 | g.177993101C>G | CA808117937 | PROP1 | c.343-54G>C (n.343-54G>C) | dbSNP |
| 5 | g.177993101C>T | CA2676775232 | PROP1 | c.343-54G>A (n.343-54G>A) | gnomAD v4 |
| 5 | g.177993103del | CA564901106 | PROP1 | c.343-54del (n.343-54del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177993102C>A | CA2676775233 | PROP1 | c.343-55G>T (n.343-55G>T) | gnomAD v4 |
| 5 | g.177993102C>T | CA2838403196 | PROP1 | c.343-55G>A (n.343-55G>A) |