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 |
|---|---|---|---|---|---|
| 12 | g.63146715G>A | CA2041545279 | AVPR1A | c.*644C>T (n.*644C>T) c.538+706C>T (n.538+706C>T) | dbSNP |
| 12 | g.63146715G>C | CA2041545278 | AVPR1A | c.*644C>G (n.*644C>G) c.538+706C>G (n.538+706C>G) | dbSNP |
| 12 | g.63146715G= | CA2041545276 | AVPR1A | c.*644C= (n.*644C=) c.538+706C= (n.538+706C=) | |
| 12 | g.63146715G>T | CA2619595420 | AVPR1A | c.*644C>A (n.*644C>A) c.538+706C>A (n.538+706C>A) | gnomAD v4 |
| 12 | g.63146716G>T | CA2619595421 | AVPR1A | c.*643C>A (n.*643C>A) c.538+705C>A (n.538+705C>A) | gnomAD v4 |
| 12 | g.63146719C>A | CA2041545281 | AVPR1A | c.*640G>T (n.*640G>T) c.538+702G>T (n.538+702G>T) | dbSNP |
| 12 | g.63146719C= | CA2041545280 | AVPR1A | c.*640G= (n.*640G=) c.538+702G= (n.538+702G=) | |
| 12 | g.63146719C>T | CA2619595422 | AVPR1A | c.*640G>A (n.*640G>A) c.538+702G>A (n.538+702G>A) | gnomAD v4 |
| 12 | g.63146720C>A | CA238786795 | AVPR1A | c.*639G>T (n.*639G>T) c.538+701G>T (n.538+701G>T) | dbSNP gnomAD v4 |
| 12 | g.63146720C= | CA2041545283 | AVPR1A | c.*639G= (n.*639G=) c.538+701G= (n.538+701G=) | |
| 12 | g.63146724del | CA2619595423 | AVPR1A | c.*638del (n.*638del) c.538+700del (n.538+700del) | gnomAD v4 |
| 12 | g.63146723A= | CA2041545287 | AVPR1A | c.*636T= (n.*636T=) c.538+698T= (n.538+698T=) | |
| 12 | g.63146723A>G | CA238786796 | AVPR1A | c.*636T>C (n.*636T>C) c.538+698T>C (n.538+698T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146724A= | CA2041545290 | AVPR1A | c.*635T= (n.*635T=) c.538+697T= (n.538+697T=) | |
| 12 | g.63146724A>C | CA948470394 | AVPR1A | c.*635T>G (n.*635T>G) c.538+697T>G (n.538+697T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146724A>G | CA2619595424 | AVPR1A | c.*635T>C (n.*635T>C) c.538+697T>C (n.538+697T>C) | gnomAD v4 |
| 12 | g.63146728G>A | CA2041545293 | AVPR1A | c.*631C>T (n.*631C>T) c.538+693C>T (n.538+693C>T) | dbSNP |
| 12 | g.63146728G= | CA2041545292 | AVPR1A | c.*631C= (n.*631C=) c.538+693C= (n.538+693C=) | |
| 12 | g.63146729G>A | CA2619595425 | AVPR1A | c.*630C>T (n.*630C>T) c.538+692C>T (n.538+692C>T) | gnomAD v4 |
| 12 | g.63146730C>T | CA2619595426 | AVPR1A | c.*629G>A (n.*629G>A) c.538+691G>A (n.538+691G>A) | gnomAD v4 |
| 12 | g.63146731C>A | CA2619595427 | AVPR1A | c.*628G>T (n.*628G>T) c.538+690G>T (n.538+690G>T) | gnomAD v4 |
| 12 | g.63146731C= | CA2041545296 | AVPR1A | c.*628G= (n.*628G=) c.538+690G= (n.538+690G=) | |
| 12 | g.63146731C>G | CA2041545298 | AVPR1A | c.*628G>C (n.*628G>C) c.538+690G>C (n.538+690G>C) | dbSNP |
| 12 | g.63146731C>T | CA2619595428 | AVPR1A | c.*628G>A (n.*628G>A) c.538+690G>A (n.538+690G>A) | gnomAD v4 |
| 12 | g.63146733C>T | CA2619595429 | AVPR1A | c.*626G>A (n.*626G>A) c.538+688G>A (n.538+688G>A) | gnomAD v4 |
| 12 | g.63146735G>A | CA2619595430 | AVPR1A | c.*624C>T (n.*624C>T) c.538+686C>T (n.538+686C>T) | gnomAD v4 |
| 12 | g.63146735G= | CA2041545300 | AVPR1A | c.*624C= (n.*624C=) c.538+686C= (n.538+686C=) | |
| 12 | g.63146735G>T | CA238786797 | AVPR1A | c.*624C>A (n.*624C>A) c.538+686C>A (n.538+686C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146736C>A | CA690781810 | AVPR1A | c.*623G>T (n.*623G>T) c.538+685G>T (n.538+685G>T) | dbSNP gnomAD v4 |
| 12 | g.63146736C= | CA2041545302 | AVPR1A | c.*623G= (n.*623G=) c.538+685G= (n.538+685G=) | |
| 12 | g.63146736C>T | CA2041545304 | AVPR1A | c.*623G>A (n.*623G>A) c.538+685G>A (n.538+685G>A) | dbSNP |
| 12 | g.63146737C>A | CA2619595431 | AVPR1A | c.*622G>T (n.*622G>T) c.538+684G>T (n.538+684G>T) | gnomAD v4 |
| 12 | g.63146739G>A | CA2619595432 | AVPR1A | c.*620C>T (n.*620C>T) c.538+682C>T (n.538+682C>T) | gnomAD v4 |
| 12 | g.63146739G>T | CA2619595433 | AVPR1A | c.*620C>A (n.*620C>A) c.538+682C>A (n.538+682C>A) | gnomAD v4 |
| 12 | g.63146740T>C | CA690781811 | AVPR1A | c.*619A>G (n.*619A>G) c.538+681A>G (n.538+681A>G) | dbSNP |
| 12 | g.63146740T= | CA2041545307 | AVPR1A | c.*619A= (n.*619A=) c.538+681A= (n.538+681A=) | |
| 12 | g.63146741T>C | CA2796277885 | AVPR1A | c.*618A>G (n.*618A>G) c.538+680A>G (n.538+680A>G) | |
| 12 | g.63146742G>A | CA2726508181 | AVPR1A | c.*617C>T (n.*617C>T) c.538+679C>T (n.538+679C>T) | dbSNP |
| 12 | g.63146743T>A | CA2796277886 | AVPR1A | c.*616A>T (n.*616A>T) c.538+678A>T (n.538+678A>T) | |
| 12 | g.63146743T>C | CA948470400 | AVPR1A | c.*616A>G (n.*616A>G) c.538+678A>G (n.538+678A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146743T= | CA2041545309 | AVPR1A | c.*616A= (n.*616A=) c.538+678A= (n.538+678A=) | |
| 12 | g.63146746A= | CA2041545311 | AVPR1A | c.*613T= (n.*613T=) c.538+675T= (n.538+675T=) | |
| 12 | g.63146746A>C | CA2041545312 | AVPR1A | c.*613T>G (n.*613T>G) c.538+675T>G (n.538+675T>G) | dbSNP |
| 12 | g.63146746A>G | CA2041545313 | AVPR1A | c.*613T>C (n.*613T>C) c.538+675T>C (n.538+675T>C) | dbSNP |
| 12 | g.63146748_63146749insATAAGGACGGTGAAGCATACGATAAGTTTGAAGATCCAGAGCAGCGTTATCGCCAACGTTACGTTGATCTCGTTGTAAACGATGGCGTTAAGGATACCTTCTTGAAGCGTGCTACGGTCTTACG | CA2554811647 | AVPR1A | c.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCCTTAT (n.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCCTTAT) c.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCCTTAT (n.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCCTTAT) | |
| 12 | g.63146748_63146749insATAAGGACGGTGAAGCATACGATAAGTTCGAAGATCCAGAGCAGCGTTATCGCCAACGTTACGTTGATCTCGTTGTAAACGATGGCGTTAAGGATACCTTCTTGAAGCGTGCTACGGTCTTACG | CA2532964112 | AVPR1A | c.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCGAACTTATCGTATGCTTCACCGTCCTTAT (n.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCGAACTTATCGTATGCTTCACCGTCCTTAT) c.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCGAACTTATCGTATGCTTCACCGTCCTTAT (n.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCGAACTTATCGTATGCTTCACCGTCCTTAT) | |
| 12 | g.63146748_63146749insATAAAGACGGTGAAGCATACGATAAGTTTGAAGATCCAGAGCAGCGTTATCGCCAACGTTACGTTGATCTCGTTGTAAACGATGGCGTTAAGGATACCTTCTTGAAGCGTGCTACGGTCTTACG | CA2532576658 | AVPR1A | c.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT (n.*610_*611insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT) c.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT (n.538+672_538+673insCGTAAGACCGTAGCACGCTTCAAGAAGGTATCCTTAACGCCATCGTTTACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT) | |
| 12 | g.63146748_63146749insATAAAGACGGTGAAGCATACGATAAGTTTGAAGATCCAGAGCAGCGTTATCGCCAACGTTACGTTGATCTCGTTGTGAACGATGGCATTAAGGATACCTTCTTGAAACGTGCTACGGTCTTACG | CA2518477188 | AVPR1A | c.*610_*611insCGTAAGACCGTAGCACGTTTCAAGAAGGTATCCTTAATGCCATCGTTCACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT (n.*610_*611insCGTAAGACCGTAGCACGTTTCAAGAAGGTATCCTTAATGCCATCGTTCACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT) c.538+672_538+673insCGTAAGACCGTAGCACGTTTCAAGAAGGTATCCTTAATGCCATCGTTCACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT (n.538+672_538+673insCGTAAGACCGTAGCACGTTTCAAGAAGGTATCCTTAATGCCATCGTTCACAACGAGATCAACGTAACGTTGGCGATAACGCTGCTCTGGATCTTCAAACTTATCGTATGCTTCACCGTCTTTAT) | |
| 12 | g.63146751C>A | CA2619595434 | AVPR1A | c.*608G>T (n.*608G>T) c.538+670G>T (n.538+670G>T) | gnomAD v4 |
| 12 | g.63146752C>A | CA2619595435 | AVPR1A | c.*607G>T (n.*607G>T) c.538+669G>T (n.538+669G>T) | gnomAD v4 |
| 12 | g.63146753A>G | CA2726508182 | AVPR1A | c.*606T>C (n.*606T>C) c.538+668T>C (n.538+668T>C) | dbSNP |
| 12 | g.63146754T>C | CA2796277887 | AVPR1A | c.*605A>G (n.*605A>G) c.538+667A>G (n.538+667A>G) | |
| 12 | g.63146754T>G | CA2796277888 | AVPR1A | c.*605A>C (n.*605A>C) c.538+667A>C (n.538+667A>C) | |
| 12 | g.63146757del | CA2619595436 | AVPR1A | c.*605del (n.*605del) c.538+667del (n.538+667del) | gnomAD v4 |
| 12 | g.63146756T>C | CA2041545318 | AVPR1A | c.*603A>G (n.*603A>G) c.538+665A>G (n.538+665A>G) | dbSNP |
| 12 | g.63146756T= | CA2041545316 | AVPR1A | c.*603A= (n.*603A=) c.538+665A= (n.538+665A=) | |
| 12 | g.63146757T>C | CA2619595437 | AVPR1A | c.*602A>G (n.*602A>G) c.538+664A>G (n.538+664A>G) | gnomAD v4 |
| 12 | g.63146758G>T | CA2619595438 | AVPR1A | c.*601C>A (n.*601C>A) c.538+663C>A (n.538+663C>A) | gnomAD v4 |
| 12 | g.63146761del | CA2619595439 | AVPR1A | c.*600del (n.*600del) c.538+662del (n.538+662del) | gnomAD v4 |
| 12 | g.63146760A>G | CA2796277889 | AVPR1A | c.*599T>C (n.*599T>C) c.538+661T>C (n.538+661T>C) | |
| 12 | g.63146761A>G | CA2619595440 | AVPR1A | c.*598T>C (n.*598T>C) c.538+660T>C (n.538+660T>C) | gnomAD v4 |
| 12 | g.63146763G>A | CA2619595441 | AVPR1A | c.*596C>T (n.*596C>T) c.538+658C>T (n.538+658C>T) | gnomAD v4 |
| 12 | g.63146764C>A | CA2041545320 | AVPR1A | c.*595G>T (n.*595G>T) c.538+657G>T (n.538+657G>T) | dbSNP gnomAD v4 |
| 12 | g.63146764C= | CA2041545319 | AVPR1A | c.*595G= (n.*595G=) c.538+657G= (n.538+657G=) | |
| 12 | g.63146764C>T | CA2619595442 | AVPR1A | c.*595G>A (n.*595G>A) c.538+657G>A (n.538+657G>A) | gnomAD v4 |
| 12 | g.63146765A>G | CA2619595443 | AVPR1A | c.*594T>C (n.*594T>C) c.538+656T>C (n.538+656T>C) | gnomAD v4 |
| 12 | g.63146766A= | CA2041545322 | AVPR1A | c.*593T= (n.*593T=) c.538+655T= (n.538+655T=) | |
| 12 | g.63146766A>C | CA605604834 | AVPR1A | c.*593T>G (n.*593T>G) c.538+655T>G (n.538+655T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146766A>G | CA2619595444 | AVPR1A | c.*593T>C (n.*593T>C) c.538+655T>C (n.538+655T>C) | gnomAD v4 |
| 12 | g.63146767G>T | CA2619595445 | AVPR1A | c.*592C>A (n.*592C>A) c.538+654C>A (n.538+654C>A) | gnomAD v4 |
| 12 | g.63146770G>A | CA2796277890 | AVPR1A | c.*589C>T (n.*589C>T) c.538+651C>T (n.538+651C>T) | |
| 12 | g.63146770G>T | CA2619595446 | AVPR1A | c.*589C>A (n.*589C>A) c.538+651C>A (n.538+651C>A) | gnomAD v4 |
| 12 | g.63146771A= | CA2041545323 | AVPR1A | c.*588T= (n.*588T=) c.538+650T= (n.538+650T=) | |
| 12 | g.63146771A>G | CA2041545324 | AVPR1A | c.*588T>C (n.*588T>C) c.538+650T>C (n.538+650T>C) | dbSNP |
| 12 | g.63146773T>C | CA2726508190 | AVPR1A | c.*586A>G (n.*586A>G) c.538+648A>G (n.538+648A>G) | dbSNP |
| 12 | g.63146775A= | CA2041545326 | AVPR1A | c.*584T= (n.*584T=) c.538+646T= (n.538+646T=) | |
| 12 | g.63146775A>G | CA948470401 | AVPR1A | c.*584T>C (n.*584T>C) c.538+646T>C (n.538+646T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146776T>C | CA2041545329 | AVPR1A | c.*583A>G (n.*583A>G) c.538+645A>G (n.538+645A>G) | dbSNP |
| 12 | g.63146776T= | CA2041545327 | AVPR1A | c.*583A= (n.*583A=) c.538+645A= (n.538+645A=) | |
| 12 | g.63146777A= | CA2041545330 | AVPR1A | c.*582T= (n.*582T=) c.538+644T= (n.538+644T=) | |
| 12 | g.63146777A>G | CA2041545332 | AVPR1A | c.*582T>C (n.*582T>C) c.538+644T>C (n.538+644T>C) | dbSNP |
| 12 | g.63146778G>A | CA2041545334 | AVPR1A | c.*581C>T (n.*581C>T) c.538+643C>T (n.538+643C>T) | dbSNP |
| 12 | g.63146778G= | CA2041545336 | AVPR1A | c.*581C= (n.*581C=) c.538+643C= (n.538+643C=) | |
| 12 | g.63146778G>T | CA2041545335 | AVPR1A | c.*581C>A (n.*581C>A) c.538+643C>A (n.538+643C>A) | dbSNP gnomAD v4 |
| 12 | g.63146779C>A | CA2619595447 | AVPR1A | c.*580G>T (n.*580G>T) c.538+642G>T (n.538+642G>T) | gnomAD v4 |
| 12 | g.63146780T>C | CA2619595448 | AVPR1A | c.*579A>G (n.*579A>G) c.538+641A>G (n.538+641A>G) | gnomAD v4 |
| 12 | g.63146781T>C | CA2619595449 | AVPR1A | c.*578A>G (n.*578A>G) c.538+640A>G (n.538+640A>G) | gnomAD v4 |
| 12 | g.63146782C= | CA2041545338 | AVPR1A | c.*577G= (n.*577G=) c.538+639G= (n.538+639G=) | |
| 12 | g.63146782C>T | CA2041545339 | AVPR1A | c.*577G>A (n.*577G>A) c.538+639G>A (n.538+639G>A) | dbSNP |
| 12 | g.63146784A= | CA2041545341 | AVPR1A | c.*575T= (n.*575T=) c.538+637T= (n.538+637T=) | |
| 12 | g.63146784A>C | CA948470402 | AVPR1A | c.*575T>G (n.*575T>G) c.538+637T>G (n.538+637T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146786T>C | CA238786798 | AVPR1A | c.*573A>G (n.*573A>G) c.538+635A>G (n.538+635A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146786T= | CA2041545344 | AVPR1A | c.*573A= (n.*573A=) c.538+635A= (n.538+635A=) | |
| 12 | g.63146787A= | CA2041545346 | AVPR1A | c.*572T= (n.*572T=) c.538+634T= (n.538+634T=) | |
| 12 | g.63146787A>G | CA2041545347 | AVPR1A | c.*572T>C (n.*572T>C) c.538+634T>C (n.538+634T>C) | dbSNP |
| 12 | g.63146788G>T | CA2619595450 | AVPR1A | c.*571C>A (n.*571C>A) c.538+633C>A (n.538+633C>A) | gnomAD v4 |
| 12 | g.63146789A= | CA2041545350 | AVPR1A | c.*570T= (n.*570T=) c.538+632T= (n.538+632T=) | |
| 12 | g.63146789A>C | CA2619595451 | AVPR1A | c.*570T>G (n.*570T>G) c.538+632T>G (n.538+632T>G) | gnomAD v4 |
| 12 | g.63146789A>T | CA2041545349 | AVPR1A | c.*570T>A (n.*570T>A) c.538+632T>A (n.538+632T>A) | dbSNP |
| 12 | g.63146791C>A | CA2619595452 | AVPR1A | c.*568G>T (n.*568G>T) c.538+630G>T (n.538+630G>T) | gnomAD v4 |
| 12 | g.63146793C= | CA2041545351 | AVPR1A | c.*566G= (n.*566G=) c.538+628G= (n.538+628G=) | |
| 12 | g.63146793C>G | CA605604836 | AVPR1A | c.*566G>C (n.*566G>C) c.538+628G>C (n.538+628G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146794T>C | CA2619595453 | AVPR1A | c.*565A>G (n.*565A>G) c.538+627A>G (n.538+627A>G) | gnomAD v4 |
| 12 | g.63146797del | CA2619595454 | AVPR1A | c.*564del (n.*564del) c.538+626del (n.538+626del) | gnomAD v4 |
| 12 | g.63146797A>G | CA2619595455 | AVPR1A | c.*562T>C (n.*562T>C) c.538+624T>C (n.538+624T>C) | gnomAD v4 |
| 12 | g.63146798C>A | CA2041545354 | AVPR1A | c.*561G>T (n.*561G>T) c.538+623G>T (n.538+623G>T) | dbSNP gnomAD v4 |
| 12 | g.63146798C= | CA2041545353 | AVPR1A | c.*561G= (n.*561G=) c.538+623G= (n.538+623G=) | |
| 12 | g.63146799T>A | CA238786800 | AVPR1A | c.*560A>T (n.*560A>T) c.538+622A>T (n.538+622A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146799T>C | CA238786799 | AVPR1A | c.*560A>G (n.*560A>G) c.538+622A>G (n.538+622A>G) | dbSNP gnomAD v4 |
| 12 | g.63146799T= | CA2041545357 | AVPR1A | c.*560A= (n.*560A=) c.538+622A= (n.538+622A=) | |
| 12 | g.63146801del | CA2619595456 | AVPR1A | c.*559del (n.*559del) c.538+621del (n.538+621del) | gnomAD v4 |
| 12 | g.63146801G>T | CA2619595457 | AVPR1A | c.*558C>A (n.*558C>A) c.538+620C>A (n.538+620C>A) | gnomAD v4 |
| 12 | g.63146802C= | CA2041545362 | AVPR1A | c.*557G= (n.*557G=) c.538+619G= (n.538+619G=) | |
| 12 | g.63146802C>T | CA238786801 | AVPR1A | c.*557G>A (n.*557G>A) c.538+619G>A (n.538+619G>A) | dbSNP gnomAD v4 |
| 12 | g.63146803C>A | CA2619595458 | AVPR1A | c.*556G>T (n.*556G>T) c.538+618G>T (n.538+618G>T) | gnomAD v4 |
| 12 | g.63146805C= | CA2041545366 | AVPR1A | c.*554G= (n.*554G=) c.538+616G= (n.538+616G=) | |
| 12 | g.63146805C>T | CA948470408 | AVPR1A | c.*554G>A (n.*554G>A) c.538+616G>A (n.538+616G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146806A= | CA2041545368 | AVPR1A | c.*553T= (n.*553T=) c.538+615T= (n.538+615T=) | |
| 12 | g.63146806A>T | CA2041545370 | AVPR1A | c.*553T>A (n.*553T>A) c.538+615T>A (n.538+615T>A) | dbSNP |
| 12 | g.63146807A= | CA2041545373 | AVPR1A | c.*552T= (n.*552T=) c.538+614T= (n.538+614T=) | |
| 12 | g.63146807A>G | CA238786802 | AVPR1A | c.*552T>C (n.*552T>C) c.538+614T>C (n.538+614T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.63146808T>C | CA2041545376 | AVPR1A | c.*551A>G (n.*551A>G) c.538+613A>G (n.538+613A>G) | dbSNP |
| 12 | g.63146808T= | CA2041545375 | AVPR1A | c.*551A= (n.*551A=) c.538+613A= (n.538+613A=) | |
| 12 | g.63146812C= | CA2041545377 | AVPR1A | c.*547G= (n.*547G=) c.538+609G= (n.538+609G=) | |
| 12 | g.63146812C>T | CA948470411 | AVPR1A | c.*547G>A (n.*547G>A) c.538+609G>A (n.538+609G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63146815G>C | CA2796277891 | AVPR1A | c.*544C>G (n.*544C>G) c.538+606C>G (n.538+606C>G) |